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Gene: CREB3L2 (cAMP responsive element binding protein 3 like 2) Homo sapiens

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Symbol:

CREB3L2

Name:

cAMP responsive element binding protein 3 like 2

RGD ID:

1314429

HGNC Page

HGNC:23720

Description:

Enables cAMP response element binding activity. Involved in positive regulation of DNA-templated transcription and response to endoplasmic reticulum stress. Located in endoplasmic reticulum and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

B-ZIB transcription factor; basic transcription factor 2; BBF2 human homolog on chromosome 7; BBF2H7; cAMP responsive element binding protein 3-like 2; cAMP-responsive element-binding protein 3-like protein 2; cyclic AMP-responsive element-binding protein 3-like protein 2; FUS/BBF2H7 protein; MGC131709; MGC71006; TCAG_1951439

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	137,874,979 - 138,002,086 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	137,874,979 - 138,002,086 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	137,559,725 - 137,686,832 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	137,210,265 - 137,337,386 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	137,016,979 - 137,144,101	NCBI
Celera	7	132,298,692 - 132,425,654 (-)	NCBI		Celera
Cytogenetic Map	7	q33	NCBI
HuRef	7	131,867,554 - 131,994,857 (-)	NCBI		HuRef
CHM1_1	7	137,493,293 - 137,620,361 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	139,184,080 - 139,311,621 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	136,905,109 - 137,032,069 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	1,2-dimethylhydrazine	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of CREB3L2 mRNA	CTD	PMID:22206623
CREB3L2	Human	17alpha-ethynylestradiol	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of CREB3L2 mRNA	CTD	PMID:17555576
CREB3L2	Human	17beta-estradiol	multiple interactions	ISO	Creb3l2 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Estradiol] results in decreased expression of CREB3L2 mRNA	CTD	PMID:26496021
CREB3L2	Human	17beta-estradiol	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Estradiol results in increased expression of CREB3L2 mRNA	CTD	PMID:39298647
CREB3L2	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	EXP		6480464	Dihydrotestosterone results in increased expression of CREB3L2 mRNA	CTD	PMID:29581250
CREB3L2	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
CREB3L2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of CREB3L2 mRNA	CTD	PMID:24058054
CREB3L2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of CREB3L2 mRNA	CTD	PMID:33387578
CREB3L2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of CREB3L2 mRNA	CTD	PMID:32109520
CREB3L2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of CREB3L2 mRNA	CTD	PMID:26290441 and PMID:33956508
CREB3L2	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of CREB3L2 mRNA	CTD	PMID:25975270
CREB3L2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of CREB3L2 mRNA	CTD	PMID:21570461
CREB3L2	Human	2-butoxyethanol	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	n-butoxyethanol results in decreased expression of CREB3L2 mRNA	CTD	PMID:19812364
CREB3L2	Human	3,3',4,4',5-pentachlorobiphenyl	decreases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	3 more ...	CTD	PMID:23196670 and PMID:32119087
CREB3L2	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of CREB3L2 mRNA	CTD	PMID:20188158
CREB3L2	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	bisphenol S results in increased expression of CREB3L2 mRNA	CTD	PMID:30951980 and PMID:39298647
CREB3L2	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Fenretinide results in increased expression of CREB3L2 mRNA	CTD	PMID:28973697
CREB3L2	Human	6-propyl-2-thiouracil	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of CREB3L2 mRNA	CTD	PMID:30047161
CREB3L2	Human	acetamide	decreases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	acetamide results in decreased expression of CREB3L2 mRNA	CTD	PMID:31881176
CREB3L2	Human	all-trans-retinoic acid	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	[bisphenol F co-treated with Tretinoin] results in decreased expression of CREB3L2 mRNA	CTD	PMID:30951980
CREB3L2	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of CREB3L2 mRNA	CTD	PMID:33167477
CREB3L2	Human	amitrole	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Amitrole results in increased expression of CREB3L2 mRNA	CTD	PMID:30047161
CREB3L2	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of CREB3L2 mRNA	CTD	PMID:33212167
CREB3L2	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite inhibits the reaction [G3BP1 protein binds to CREB3L2 mRNA]	CTD	PMID:32406909
CREB3L2	Human	arsenous acid	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	Metformin inhibits the reaction [Arsenic Trioxide results in increased expression of CREB3L2 mRNA]	CTD	PMID:29095437
CREB3L2	Human	arsenous acid	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Arsenic Trioxide results in increased expression of CREB3L2 mRNA	CTD	PMID:29095437
CREB3L2	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of CREB3L2 mRNA	CTD	PMID:22378314
CREB3L2	Human	benzo[a]pyrene	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of CREB3L2 mRNA	CTD	PMID:19770486
CREB3L2	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of CREB3L2 3' UTR	CTD	PMID:27901495
CREB3L2	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of CREB3L2 mRNA	CTD	PMID:20106945 and PMID:21632981
CREB3L2	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:20018196
CREB3L2	Human	beta-lapachone	increases expression	EXP		6480464	beta-lapachone results in increased expression of CREB3L2 mRNA	CTD	PMID:38218311
CREB3L2	Human	bisphenol A	multiple interactions	ISO	Creb3l2 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Estradiol] results in decreased expression of CREB3L2 mRNA	CTD	PMID:26496021
CREB3L2	Human	bisphenol A	affects expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	bisphenol A affects the expression of CREB3L2 mRNA	CTD	PMID:32145629
CREB3L2	Human	bisphenol A	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	bisphenol A results in increased expression of CREB3L2 mRNA	CTD	PMID:30951980
CREB3L2	Human	bisphenol A	affects methylation	ISO	Creb3l2 (Mus musculus)	6480464	bisphenol A affects the methylation of CREB3L2 promoter	CTD	PMID:27334623
CREB3L2	Human	bisphenol A	decreases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of CREB3L2 mRNA	CTD	PMID:30816183 more ...
CREB3L2	Human	bisphenol A	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of CREB3L2 mRNA	CTD	PMID:25181051 and PMID:33296240
CREB3L2	Human	bisphenol F	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	[bisphenol F co-treated with Tretinoin] results in decreased expression of CREB3L2 mRNA	CTD	PMID:30951980
CREB3L2	Human	bisphenol F	increases methylation	EXP		6480464	bisphenol F results in increased methylation of CREB3L2 gene	CTD	PMID:31601247
CREB3L2	Human	bisphenol F	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	bisphenol F results in increased expression of CREB3L2 mRNA	CTD	PMID:30951980 and PMID:38685157
CREB3L2	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of CREB3L2 mRNA	CTD	PMID:35301059
CREB3L2	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of CREB3L2 mRNA	CTD	PMID:38568856
CREB3L2	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of CREB3L2 mRNA	CTD	PMID:35301059
CREB3L2	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of CREB3L2 protein	CTD	PMID:35688186
CREB3L2	Human	carbon nanotube	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Nanotubes and Carbon results in increased expression of CREB3L2 mRNA	CTD	PMID:25620056
CREB3L2	Human	ciguatoxin CTX1B	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	Ciguatoxins affects the expression of CREB3L2 mRNA	CTD	PMID:18353800
CREB3L2	Human	clofibrate	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	Clofibrate results in decreased expression of CREB3L2 mRNA	CTD	PMID:23811191
CREB3L2	Human	clotrimazole	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Clotrimazole results in increased expression of CREB3L2 mRNA	CTD	PMID:30047161
CREB3L2	Human	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of CREB3L2 mRNA	CTD	PMID:19320972
CREB3L2	Human	copper atom	multiple interactions	EXP		6480464	[Chelating Agents binds to Copper] which results in decreased expression of CREB3L2 mRNA and [Chelating Agents binds to Copper] which results in increased expression of CREB3L2 mRNA	CTD	PMID:30911355
CREB3L2	Human	copper(0)	multiple interactions	EXP		6480464	[Chelating Agents binds to Copper] which results in decreased expression of CREB3L2 mRNA and [Chelating Agents binds to Copper] which results in increased expression of CREB3L2 mRNA	CTD	PMID:30911355
CREB3L2	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of CREB3L2 mRNA	CTD	PMID:20106945
CREB3L2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of CREB3L2 mRNA	CTD	PMID:25562108
CREB3L2	Human	diallyl trisulfide	decreases expression	EXP		6480464	diallyl trisulfide results in decreased expression of CREB3L2 mRNA	CTD	PMID:34995734
CREB3L2	Human	diarsenic trioxide	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	Metformin inhibits the reaction [Arsenic Trioxide results in increased expression of CREB3L2 mRNA]	CTD	PMID:29095437
CREB3L2	Human	diarsenic trioxide	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Arsenic Trioxide results in increased expression of CREB3L2 mRNA	CTD	PMID:29095437
CREB3L2	Human	dibutyl phthalate	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Dibutyl Phthalate results in increased expression of CREB3L2 mRNA	CTD	PMID:21266533
CREB3L2	Human	dichloromethane	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	Methylene Chloride results in decreased expression of CREB3L2 mRNA	CTD	PMID:28392392
CREB3L2	Human	diclofenac	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Diclofenac results in increased expression of CREB3L2 mRNA	CTD	PMID:26934552
CREB3L2	Human	dicrotophos	increases expression	EXP		6480464	dicrotophos results in increased expression of CREB3L2 mRNA	CTD	PMID:28302478
CREB3L2	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
CREB3L2	Human	ethanol	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	Ethanol affects the expression of CREB3L2 mRNA	CTD	PMID:30319688
CREB3L2	Human	ethanol	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Ethanol results in increased expression of CREB3L2 mRNA	CTD	PMID:30319688
CREB3L2	Human	folic acid	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	Folic Acid results in decreased expression of CREB3L2 mRNA	CTD	PMID:25629700
CREB3L2	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of CREB3L2 protein	CTD	PMID:37730182
CREB3L2	Human	gentamycin	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of CREB3L2 mRNA	CTD	PMID:33387578
CREB3L2	Human	geraniol	increases expression	EXP		6480464	geraniol results in increased expression of CREB3L2 mRNA	CTD	PMID:27683099
CREB3L2	Human	glyphosate	decreases expression	EXP		6480464	Glyphosate results in decreased expression of CREB3L2 mRNA	CTD	PMID:31295307
CREB3L2	Human	isobutanol	multiple interactions	EXP		6480464	[[Gasoline co-treated with isobutyl alcohol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of CREB3L2 mRNA	CTD	PMID:29432896
CREB3L2	Human	lead diacetate	increases expression	EXP		6480464	lead acetate results in increased expression of CREB3L2 mRNA	CTD	PMID:38568856
CREB3L2	Human	lead(0)	multiple interactions	ISO	Creb3l2 (Rattus norvegicus)	6480464	Lead results in decreased expression of and results in increased methylation of CREB3L2 mRNA	CTD	PMID:37269892
CREB3L2	Human	metformin	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Metformin results in increased expression of CREB3L2 mRNA	CTD	PMID:31324951
CREB3L2	Human	metformin	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	Metformin inhibits the reaction [Arsenic Trioxide results in increased expression of CREB3L2 mRNA]	CTD	PMID:29095437
CREB3L2	Human	methimazole	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Methimazole results in increased expression of CREB3L2 mRNA	CTD	PMID:30047161
CREB3L2	Human	methotrexate	increases expression	EXP		6480464	Methotrexate results in increased expression of CREB3L2 mRNA	CTD	PMID:24449571
CREB3L2	Human	methoxychlor	affects methylation	ISO	Creb3l2 (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of CREB3L2 gene	CTD	PMID:35440735
CREB3L2	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of CREB3L2 mRNA	CTD	PMID:23649840
CREB3L2	Human	mono(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of CREB3L2 mRNA	CTD	PMID:38685446
CREB3L2	Human	paracetamol	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	Acetaminophen affects the expression of CREB3L2 mRNA	CTD	PMID:17562736
CREB3L2	Human	paracetamol	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of CREB3L2 mRNA	CTD	PMID:33387578
CREB3L2	Human	paraquat	decreases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Paraquat results in decreased expression of CREB3L2 mRNA	CTD	PMID:32680482
CREB3L2	Human	pirinixic acid	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CREB3L2 mRNA	CTD	PMID:19710929
CREB3L2	Human	pirinixic acid	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	pirinixic acid results in decreased expression of CREB3L2 mRNA	CTD	PMID:17426115 and PMID:23811191
CREB3L2	Human	propiconazole	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	propiconazole results in increased expression of CREB3L2 mRNA	CTD	PMID:21278054
CREB3L2	Human	quercetin	decreases expression	EXP		6480464	Quercetin results in decreased expression of CREB3L2 mRNA	CTD	PMID:21632981
CREB3L2	Human	resveratrol	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	Resveratrol inhibits the reaction [titanium dioxide results in increased expression of CREB3L2 mRNA]	CTD	PMID:31298478
CREB3L2	Human	rimonabant	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of CREB3L2 mRNA]	CTD	PMID:19030233
CREB3L2	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
CREB3L2	Human	silicon dioxide	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Silicon Dioxide results in increased expression of CREB3L2 mRNA	CTD	PMID:23221170
CREB3L2	Human	silver atom	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Silver results in increased expression of CREB3L2 mRNA	CTD	PMID:27131904
CREB3L2	Human	silver(0)	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Silver results in increased expression of CREB3L2 mRNA	CTD	PMID:27131904
CREB3L2	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of CREB3L2 mRNA	CTD	PMID:38568856
CREB3L2	Human	starch	multiple interactions	ISO	Creb3l2 (Rattus norvegicus)	6480464	Starch analog inhibits the reaction [Rapeseed Oil metabolite results in decreased expression of CREB3L2 mRNA]	CTD	PMID:27363782
CREB3L2	Human	sulfadimethoxine	increases expression	ISO	Creb3l2 (Rattus norvegicus)	6480464	Sulfadimethoxine results in increased expression of CREB3L2 mRNA	CTD	PMID:30047161
CREB3L2	Human	tamoxifen	affects expression	ISO	Creb3l2 (Mus musculus)	6480464	Tamoxifen affects the expression of CREB3L2 mRNA	CTD	PMID:17555576
CREB3L2	Human	temozolomide	decreases expression	EXP		6480464	Temozolomide results in decreased expression of CREB3L2 mRNA	CTD	PMID:31758290
CREB3L2	Human	tetrachloromethane	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Carbon Tetrachloride results in increased expression of CREB3L2 mRNA	CTD	PMID:31919559
CREB3L2	Human	thapsigargin	increases expression	EXP		6480464	Thapsigargin results in increased expression of CREB3L2 mRNA	CTD	PMID:22378314 and PMID:29453283
CREB3L2	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of CREB3L2 mRNA	CTD	PMID:38568856
CREB3L2	Human	titanium dioxide	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	titanium dioxide results in increased expression of CREB3L2 mRNA	CTD	PMID:31298478
CREB3L2	Human	titanium dioxide	increases methylation	ISO	Creb3l2 (Mus musculus)	6480464	titanium dioxide results in increased methylation of CREB3L2 promoter	CTD	PMID:35295148
CREB3L2	Human	titanium dioxide	decreases methylation	ISO	Creb3l2 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of CREB3L2 gene	CTD	PMID:35295148
CREB3L2	Human	titanium dioxide	multiple interactions	ISO	Creb3l2 (Mus musculus)	6480464	Resveratrol inhibits the reaction [titanium dioxide results in increased expression of CREB3L2 mRNA]	CTD	PMID:31298478
CREB3L2	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of CREB3L2 mRNA	CTD	PMID:24935251 and PMID:26272509
CREB3L2	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CREB3L2 mRNA	CTD	PMID:27188386
CREB3L2	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of CREB3L2 mRNA	CTD	PMID:37042841
CREB3L2	Human	tungsten	decreases expression	ISO	Creb3l2 (Mus musculus)	6480464	Tungsten results in decreased expression of CREB3L2 mRNA	CTD	PMID:30912803
CREB3L2	Human	tunicamycin	increases expression	ISO	Creb3l2 (Mus musculus)	6480464	Tunicamycin results in increased expression of CREB3L2 mRNA	CTD	PMID:17127020
CREB3L2	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of CREB3L2 mRNA	CTD	PMID:22378314 and PMID:29453283
CREB3L2	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of CREB3L2 mRNA	CTD	PMID:25979313
CREB3L2	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of CREB3L2 mRNA	CTD	PMID:23179753 more ...
CREB3L2	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CREB3L2 mRNA	CTD	PMID:27188386

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	cartilage development	involved_in	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	cartilage development	involved_in	ISS	UniProtKB:Q8BH52	150520179		UniProt	GO_REF:0000024
CREB3L2	Human	chondrocyte differentiation	involved_in	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	chondrocyte differentiation	involved_in	ISS	UniProtKB:Q8BH52	150520179		UniProt	GO_REF:0000024
CREB3L2	Human	endoplasmic reticulum to Golgi vesicle-mediated transport	involved_in	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	positive regulation of DNA-templated transcription	involved_in	IDA		150520179	PMID:17178827	UniProt	PMID:17178827
CREB3L2	Human	positive regulation of DNA-templated transcription	involved_in	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	positive regulation of gene expression		ISO	Creb3l2 (Rattus norvegicus)	9068941		RGD	PMID:23842743 and REF_RGD_ID:13515084
CREB3L2	Human	positive regulation of neuron projection development		ISO	Creb3l2 (Rattus norvegicus)	9068941		RGD	PMID:23842743 and REF_RGD_ID:13515084
CREB3L2	Human	positive regulation of transcription by RNA polymerase II	involved_in	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	regulation of DNA-templated transcription	involved_in	IEA	InterPro:IPR004827 and InterPro:IPR046347	150520179		InterPro	GO_REF:0000002
CREB3L2	Human	regulation of transcription by RNA polymerase II	involved_in	IBA	FB:FBgn0004396 more ...	150520179		GO_Central	GO_REF:0000033
CREB3L2	Human	response to endoplasmic reticulum stress	involved_in	IEP		150520179	PMID:17178827	UniProt	PMID:17178827
CREB3L2	Human	response to endoplasmic reticulum stress		ISO	Creb3l2 (Rattus norvegicus)	9068941		RGD	PMID:19666046 and REF_RGD_ID:13515083
CREB3L2	Human	response to unfolded protein	involved_in	IEA	UniProtKB-KW:KW-0834	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	chromatin		ISO	Creb3l2 (Rattus norvegicus)	9068941		RGD	PMID:23842743 and REF_RGD_ID:13515084
CREB3L2	Human	chromatin	located_in	ISA	tfclass:1.1.7	150520179		NTNU_SB	GO_REF:0000113
CREB3L2	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
CREB3L2	Human	endoplasmic reticulum	located_in	IDA		150520179	PMID:17178827	HPA	GO_REF:0000052 and PMID:17178827
CREB3L2	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
CREB3L2	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
CREB3L2	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
CREB3L2	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
CREB3L2	Human	nucleus	located_in	IDA		150520179	PMID:17178827	UniProt	PMID:17178827
CREB3L2	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
CREB3L2	Human	perinuclear endoplasmic reticulum		ISO	Creb3l2 (Rattus norvegicus)	9068941		RGD	PMID:23842743 and REF_RGD_ID:13515084

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	cAMP response element binding	enables	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	cAMP response element binding	enables	IBA	MGI:1347062 more ...	150520179		GO_Central	GO_REF:0000033
CREB3L2	Human	cAMP response element binding	enables	IMP		150520179	PMID:17178827	UniProt	PMID:17178827
CREB3L2	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
CREB3L2	Human	DNA-binding transcription activator activity, RNA polymerase II-specific		ISO	Creb3l2 (Rattus norvegicus)	9068941		RGD	PMID:23842743 and REF_RGD_ID:13515084
CREB3L2	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	DNA-binding transcription factor activity	enables	IEA	InterPro:IPR004827 and InterPro:IPR046347	150520179		InterPro	GO_REF:0000002
CREB3L2	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	ISA	tfclass:1.1.7	150520179		NTNU_SB	GO_REF:0000113
CREB3L2	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	MGI:1347062 more ...	150520179		GO_Central	GO_REF:0000033
CREB3L2	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	transcription cis-regulatory region binding	enables	IEA	UniProtKB:Q8BH52 and ensembl:ENSMUSP00000040208	150520179		Ensembl	GO_REF:0000107
CREB3L2	Human	transcription cis-regulatory region binding	enables	IMP		150520179	PMID:17178827	UniProt	PMID:17178827

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	endoplasmic reticulum stress - the unfolded protein response pathway		TAS		10450872		RGD

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	Huntington's disease pathway		IEA		6907045		KEGG	hsa:05016
CREB3L2	Human	prostate cancer pathway		IEA		6907045		KEGG	hsa:05215
CREB3L2	Human	vasopressin signaling pathway via receptor type 2		IEA		6907045		KEGG	hsa:04962

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CREB3L2	Human	Pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	The impact of the unfolded protein response on human disease.	Wang S and Kaufman RJ, J Cell Biol. 2012 Jun 25;197(7):857-67. doi: 10.1083/jcb.201110131.

PMID:12477932	PMID:12690205	PMID:12915480	PMID:15146197	PMID:17117415	PMID:17178827	PMID:17721195	PMID:18255255	PMID:18757431	PMID:19212619	PMID:19274049	PMID:19322201
PMID:20360068	PMID:20379614	PMID:20471519	PMID:20878102	PMID:21041443	PMID:21536545	PMID:21873635	PMID:21988832	PMID:22495181	PMID:23955342	PMID:25720964	PMID:25955804
PMID:26186194	PMID:28500182	PMID:28514442	PMID:28611215	PMID:29117863	PMID:29536501	PMID:30804502	PMID:31914686	PMID:32296183	PMID:33618248	PMID:33803345	PMID:33961781
PMID:34611310	PMID:34917906	PMID:35696571

CREB3L2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	137,874,979 - 138,002,086 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	137,874,979 - 138,002,086 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	137,559,725 - 137,686,832 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	137,210,265 - 137,337,386 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	137,016,979 - 137,144,101	NCBI
Celera	7	132,298,692 - 132,425,654 (-)	NCBI		Celera
Cytogenetic Map	7	q33	NCBI
HuRef	7	131,867,554 - 131,994,857 (-)	NCBI		HuRef
CHM1_1	7	137,493,293 - 137,620,361 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	139,184,080 - 139,311,621 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	136,905,109 - 137,032,069 (-)	NCBI

Creb3l2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	37,307,956 - 37,419,083 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	37,304,190 - 37,419,081 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	37,327,255 - 37,442,276 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	37,327,255 - 37,442,146 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	37,281,021 - 37,392,148 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	37,260,627 - 37,371,747 (-)	NCBI		MGSCv36	mm8
Celera	6	37,307,243 - 37,429,201 (-)	NCBI		Celera
Cytogenetic Map	6	B1	NCBI
cM Map	6	16.18	NCBI

Creb3l2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	66,874,623 - 66,990,962 (-)	NCBI		GRCr8
mRatBN7.2	4	65,907,570 - 66,112,078 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	65,907,655 - 66,023,763 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	70,849,613 - 70,965,757 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	66,770,691 - 66,886,837 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	65,160,628 - 65,276,768 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	64,869,285 - 64,981,519 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	64,869,026 - 64,981,384 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	64,691,125 - 64,803,069 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	64,703,458 - 64,816,668 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	64,979,587 - 65,092,798 (-)	NCBI
Celera	4	60,932,138 - 61,044,664 (-)	NCBI		Celera
Cytogenetic Map	4	q22	NCBI

Creb3l2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955494	5,045,272 - 5,089,121 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955494	5,014,509 - 5,094,220 (+)	NCBI	ChiLan1.0	ChiLan1.0

CREB3L2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	6	174,688,367 - 174,816,921 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	26,698,619 - 26,827,174 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	129,833,446 - 129,960,145 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	142,326,266 - 142,452,438 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	142,331,759 - 142,452,438 (-)	Ensembl	panpan1.1		panPan2

CREB3L2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	10,683,169 - 10,803,071 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	10,682,935 - 11,248,029 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	11,696,999 - 11,817,077 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	10,643,987 - 10,764,606 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	16	10,644,016 - 10,760,664 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	16	11,106,597 - 11,226,365 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	10,209,275 - 10,329,400 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	10,351,793 - 10,471,726 (+)	NCBI		UU_Cfam_GSD_1.0

Creb3l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	16,806,312 - 16,916,844 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936592	2,308,156 - 2,413,510 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936592	2,302,921 - 2,413,486 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CREB3L2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	11,533,183 - 11,666,113 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	11,533,184 - 11,666,132 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	12,205,340 - 12,338,168 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CREB3L2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	106,572,893 - 106,705,080 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	106,578,422 - 106,705,089 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666072	3,436,572 - 3,563,264 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Creb3l2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624765	18,157,132 - 18,276,029 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624765	18,152,099 - 18,275,614 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in CREB3L2
56 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	copy number gain	See cases [RCV000050876]	Chr7:129310166..159282390 [GRCh38] Chr7:128950007..159075079 [GRCh37] Chr7:128737243..158767840 [NCBI36] Chr7:7q32.1-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	copy number gain	See cases [RCV000051101]	Chr7:132850196..159325876 [GRCh38] Chr7:132534956..159118566 [GRCh37] Chr7:132185496..158811327 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	copy number gain	See cases [RCV000053576]	Chr7:136309982..159307523 [GRCh38] Chr7:135994730..159100212 [GRCh37] Chr7:135645270..158792973 [NCBI36] Chr7:7q33-36.3	pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]\|See cases [RCV000054172]	Chr7:132023155..149309794 [GRCh38] Chr7:131707914..149006885 [GRCh37] Chr7:131358454..148637818 [NCBI36] Chr7:7q32.3-36.1	pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	copy number loss	See cases [RCV000054173]	Chr7:135414108..144140219 [GRCh38] Chr7:135098857..143837312 [GRCh37] Chr7:134749397..143468245 [NCBI36] Chr7:7q33-35	pathogenic
GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	copy number loss	See cases [RCV000054174]	Chr7:137741740..139688885 [GRCh38] Chr7:137426486..139373631 [GRCh37] Chr7:137077026..139024171 [NCBI36] Chr7:7q33-34	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	copy number gain	See cases [RCV000136592]	Chr7:137751200..154815582 [GRCh38] Chr7:137435946..154607292 [GRCh37] Chr7:137086486..154238225 [NCBI36] Chr7:7q33-36.2	pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	copy number loss	See cases [RCV000138120]	Chr7:134666829..158591882 [GRCh38] Chr7:134351581..158384574 [GRCh37] Chr7:134002121..158077335 [NCBI36] Chr7:7q33-36.3	pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	copy number gain	See cases [RCV000138847]	Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3	pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	copy number loss	See cases [RCV000138903]	Chr7:135017687..148807400 [GRCh38] Chr7:134702438..148504492 [GRCh37] Chr7:134352978..148135425 [NCBI36] Chr7:7q33-36.1	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	copy number gain	See cases [RCV000139654]	Chr7:132444095..159335866 [GRCh38] Chr7:132128854..159128556 [GRCh37] Chr7:131779394..158821317 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	copy number gain	See cases [RCV000141413]	Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	copy number gain	See cases [RCV000142802]	Chr7:131228764..159335866 [GRCh38] Chr7:130913523..159128556 [GRCh37] Chr7:130564063..158821317 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	copy number gain	See cases [RCV000143754]	Chr7:131171478..159327017 [GRCh38] Chr7:130856237..159119707 [GRCh37] Chr7:130506777..158812468 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	copy number gain	See cases [RCV000143707]	Chr7:132438072..159327017 [GRCh38] Chr7:132122831..159119707 [GRCh37] Chr7:131773371..158812468 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	copy number gain	not provided [RCV000767558]	Chr7:128312450..159119220 [GRCh37] Chr7:7q32.1-36.3	pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3	copy number gain	See cases [RCV000449264]	Chr7:137589621..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3	copy number gain	See cases [RCV000447709]	Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	copy number loss	See cases [RCV000448552]	Chr7:131642114..139107211 [GRCh37] Chr7:7q32.3-34	pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1	copy number loss	See cases [RCV000448836]	Chr7:133799185..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1	copy number loss	See cases [RCV000447722]	Chr7:127295698..139524358 [GRCh37] Chr7:7q32.1-34	pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3	copy number gain	See cases [RCV000447956]	Chr7:128276078..159119707 [GRCh37] Chr7:7q32.1-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	copy number gain	See cases [RCV000510490]	Chr7:136758593..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_194071.4(CREB3L2):c.1354G>A (p.Gly452Ser)	single nucleotide variant	not specified [RCV004299069]	Chr7:137882545 [GRCh38] Chr7:137567291 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1331C>T (p.Pro444Leu)	single nucleotide variant	not specified [RCV004289836]	Chr7:137882568 [GRCh38] Chr7:137567314 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.722G>A (p.Arg241Gln)	single nucleotide variant	not specified [RCV004293963]	Chr7:137908298 [GRCh38] Chr7:137593044 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1044G>C (p.Arg348Ser)	single nucleotide variant	not specified [RCV004315214]	Chr7:137885502 [GRCh38] Chr7:137570248 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	copy number gain	See cases [RCV000512176]	Chr7:137434852..140349546 [GRCh37] Chr7:7q33-34	uncertain significance
GRCh37/hg19 7q33(chr7:133230189-137972605)x1	copy number loss	not provided [RCV000682906]	Chr7:133230189..137972605 [GRCh37] Chr7:7q33	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	copy number gain	not provided [RCV000682911]	Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
Single allele	complex	Renal transitional cell carcinoma [RCV000754611]	Chr7:129367205..140482957 [GRCh37] Chr7:7q32.2-34	likely pathogenic
GRCh37/hg19 7q33(chr7:137493265-137562834)x1	copy number loss	not provided [RCV000747062]	Chr7:137493265..137562834 [GRCh37] Chr7:7q33	benign
GRCh37/hg19 7q33(chr7:137573134-137573661)x1	copy number loss	not provided [RCV000747063]	Chr7:137573134..137573661 [GRCh37] Chr7:7q33	benign
GRCh37/hg19 7q33(chr7:137573134-137573662)x1	copy number loss	not provided [RCV000747064]	Chr7:137573134..137573662 [GRCh37] Chr7:7q33	benign
GRCh37/hg19 7q33(chr7:137573134-137580565)x1	copy number loss	not provided [RCV000747065]	Chr7:137573134..137580565 [GRCh37] Chr7:7q33	benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q33(chr7:137183506-137611567)x3	copy number gain	not provided [RCV000849444]	Chr7:137183506..137611567 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33(chr7:137180374-137611567)x3	copy number gain	not provided [RCV000848803]	Chr7:137180374..137611567 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	copy number loss	not provided [RCV001006019]	Chr7:135677938..139810886 [GRCh37] Chr7:7q33-34	pathogenic
GRCh37/hg19 7q33(chr7:134648448-137942208)x1	copy number loss	not provided [RCV000849809]	Chr7:134648448..137942208 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	copy number loss	not provided [RCV000846410]	Chr7:137675423..139084024 [GRCh37] Chr7:7q33-34	uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	copy number gain	not provided [RCV000849569]	Chr7:130592554..159119707 [GRCh37] Chr7:7q32.3-36.3	pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	copy number gain	not provided [RCV001005994]	Chr7:109251060..159119707 [GRCh37] Chr7:7q31.1-36.3	pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	copy number loss	See cases [RCV001007432]	Chr7:131414604..159126310 [GRCh37] Chr7:7q32.3-36.3	pathogenic
GRCh37/hg19 7q33(chr7:137658677-137982831)x3	copy number gain	not provided [RCV001258972]	Chr7:137658677..137982831 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33(chr7:137179553-137624697)x3	copy number gain	not provided [RCV001258976]	Chr7:137179553..137624697 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	copy number loss	Hypertelorism [RCV001801200]	Chr7:133848099..145814115 [GRCh37] Chr7:7q33-35	pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	copy number gain	not provided [RCV001834520]	Chr7:133851002..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7q33-34(chr7:137633442-138213453)x3	copy number gain	not provided [RCV001834197]	Chr7:137633442..138213453 [GRCh37] Chr7:7q33-34	uncertain significance
GRCh37/hg19 7q33(chr7:136876370-137804126)	copy number loss	not specified [RCV002053735]	Chr7:136876370..137804126 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	copy number loss	not specified [RCV002053727]	Chr7:127295698..139524358 [GRCh37] Chr7:7q32.1-34	pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del	deletion	not provided [RCV003116360]	Chr7:130781014..150301047 [GRCh37] Chr7:7q32.3-36.1	pathogenic
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	copy number loss	not provided [RCV002472560]	Chr7:131779213..149042734 [GRCh37] Chr7:7q32.3-36.1	pathogenic
NM_194071.4(CREB3L2):c.1165G>A (p.Val389Ile)	single nucleotide variant	not specified [RCV004128969]	Chr7:137885100 [GRCh38] Chr7:137569846 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.452C>A (p.Thr151Asn)	single nucleotide variant	not specified [RCV004196682]	Chr7:137915880 [GRCh38] Chr7:137600626 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1313C>T (p.Pro438Leu)	single nucleotide variant	not specified [RCV004191191]	Chr7:137882586 [GRCh38] Chr7:137567332 [GRCh37] Chr7:7q33	likely benign
NM_194071.4(CREB3L2):c.415G>A (p.Val139Ile)	single nucleotide variant	not specified [RCV004111493]	Chr7:137915917 [GRCh38] Chr7:137600663 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1490T>A (p.Val497Asp)	single nucleotide variant	not specified [RCV004227096]	Chr7:137880549 [GRCh38] Chr7:137565295 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1304A>G (p.His435Arg)	single nucleotide variant	not specified [RCV004151196]	Chr7:137882595 [GRCh38] Chr7:137567341 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1312C>A (p.Pro438Thr)	single nucleotide variant	not specified [RCV004133978]	Chr7:137882587 [GRCh38] Chr7:137567333 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.620C>T (p.Pro207Leu)	single nucleotide variant	not specified [RCV004091709]	Chr7:137908400 [GRCh38] Chr7:137593146 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.92T>A (p.Met31Lys)	single nucleotide variant	not specified [RCV004207228]	Chr7:138001614 [GRCh38] Chr7:137686360 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.707C>G (p.Ser236Cys)	single nucleotide variant	not specified [RCV004187873]	Chr7:137908313 [GRCh38] Chr7:137593059 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1103C>T (p.Thr368Ile)	single nucleotide variant	not specified [RCV004108199]	Chr7:137885443 [GRCh38] Chr7:137570189 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1193A>G (p.Tyr398Cys)	single nucleotide variant	not specified [RCV004084586]	Chr7:137885072 [GRCh38] Chr7:137569818 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.278C>G (p.Ser93Trp)	single nucleotide variant	not specified [RCV004271602]	Chr7:137928191 [GRCh38] Chr7:137612937 [GRCh37] Chr7:7q33	uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	copy number gain	Neurodevelopmental disorder [RCV003327609]	Chr7:137463392..159345973 [GRCh38] Chr7:7q33-36.3	pathogenic
NM_194071.4(CREB3L2):c.268C>T (p.Arg90Trp)	single nucleotide variant	not specified [RCV004337155]	Chr7:137928201 [GRCh38] Chr7:137612947 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1267G>A (p.Val423Met)	single nucleotide variant	not specified [RCV004356005]	Chr7:137884998 [GRCh38] Chr7:137569744 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	copy number loss	not provided [RCV003482988]	Chr7:135639005..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	copy number loss	not specified [RCV003986721]	Chr7:120582003..137699953 [GRCh37] Chr7:7q31.31-33	pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	copy number gain	not specified [RCV003986713]	Chr7:137456457..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
NM_194071.4(CREB3L2):c.290A>G (p.His97Arg)	single nucleotide variant	not specified [RCV004367201]	Chr7:137928179 [GRCh38] Chr7:137612925 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1067A>G (p.Lys356Arg)	single nucleotide variant	not specified [RCV004367196]	Chr7:137885479 [GRCh38] Chr7:137570225 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1406C>T (p.Pro469Leu)	single nucleotide variant	not specified [RCV004367197]	Chr7:137882493 [GRCh38] Chr7:137567239 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1492A>G (p.Ser498Gly)	single nucleotide variant	not specified [RCV004367199]	Chr7:137880547 [GRCh38] Chr7:137565293 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.269G>A (p.Arg90Gln)	single nucleotide variant	not specified [RCV004367200]	Chr7:137928200 [GRCh38] Chr7:137612946 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.325G>A (p.Val109Met)	single nucleotide variant	not specified [RCV004367202]	Chr7:137916007 [GRCh38] Chr7:137600753 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1441G>A (p.Glu481Lys)	single nucleotide variant	not specified [RCV004367198]	Chr7:137882458 [GRCh38] Chr7:137567204 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.758C>T (p.Thr253Met)	single nucleotide variant	not specified [RCV004367204]	Chr7:137908262 [GRCh38] Chr7:137593008 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.49A>G (p.Lys17Glu)	single nucleotide variant	not specified [RCV004613257]	Chr7:138001657 [GRCh38] Chr7:137686403 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.593A>G (p.Asp198Gly)	single nucleotide variant	not specified [RCV004613258]	Chr7:137908427 [GRCh38] Chr7:137593173 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.673C>T (p.His225Tyr)	single nucleotide variant	not specified [RCV004613255]	Chr7:137908347 [GRCh38] Chr7:137593093 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1174G>A (p.Gly392Ser)	single nucleotide variant	not specified [RCV004613259]	Chr7:137885091 [GRCh38] Chr7:137569837 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.896G>A (p.Arg299Gln)	single nucleotide variant	not specified [RCV004613261]	Chr7:137905721 [GRCh38] Chr7:137590467 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.911A>G (p.Asn304Ser)	single nucleotide variant	not specified [RCV004613260]	Chr7:137905706 [GRCh38] Chr7:137590452 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-36.1(chr7:136304444-148292957)x1	copy number loss	not provided [RCV004819355]	Chr7:136304444..148292957 [GRCh37] Chr7:7q33-36.1	pathogenic
NM_194071.4(CREB3L2):c.493G>A (p.Gly165Arg)	single nucleotide variant	not specified [RCV004913017]	Chr7:137915839 [GRCh38] Chr7:137600585 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1014G>C (p.Lys338Asn)	single nucleotide variant	not specified [RCV004913027]	Chr7:137901383 [GRCh38] Chr7:137586129 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q31.32-36.1(chr7:122190535-149944340)x1	copy number loss	not provided [RCV004819354]	Chr7:122190535..149944340 [GRCh37] Chr7:7q31.32-36.1	pathogenic
NM_194071.4(CREB3L2):c.517A>G (p.Ile173Val)	single nucleotide variant	not specified [RCV004913023]	Chr7:137913057 [GRCh38] Chr7:137597803 [GRCh37] Chr7:7q33	likely benign
NM_194071.4(CREB3L2):c.472C>A (p.Pro158Thr)	single nucleotide variant	not specified [RCV004913026]	Chr7:137915860 [GRCh38] Chr7:137600606 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.520A>C (p.Ile174Leu)	single nucleotide variant	not specified [RCV004913018]	Chr7:137913054 [GRCh38] Chr7:137597800 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.1512T>A (p.Asn504Lys)	single nucleotide variant	not specified [RCV004913021]	Chr7:137880527 [GRCh38] Chr7:137565273 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.689C>T (p.Pro230Leu)	single nucleotide variant	not specified [RCV004913019]	Chr7:137908331 [GRCh38] Chr7:137593077 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.276G>T (p.Gln92His)	single nucleotide variant	not specified [RCV004913024]	Chr7:137928193 [GRCh38] Chr7:137612939 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.397G>A (p.Glu133Lys)	single nucleotide variant	not specified [RCV004913020]	Chr7:137915935 [GRCh38] Chr7:137600681 [GRCh37] Chr7:7q33	uncertain significance
NM_194071.4(CREB3L2):c.361C>A (p.Pro121Thr)	single nucleotide variant	not specified [RCV004913022]	Chr7:137915971 [GRCh38] Chr7:137600717 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-34(chr7:137682885-140654909)x3	copy number gain	not provided [RCV004819526]	Chr7:137682885..140654909 [GRCh37] Chr7:7q33-34	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3482
Count of miRNA genes:	1298
Interacting mature miRNAs:	1640
Transcripts:	ENST00000330387, ENST00000420629, ENST00000452463, ENST00000456390, ENST00000458726, ENST00000468127
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407095619	GWAS744595_H	low density lipoprotein cholesterol measurement QTL GWAS744595 (human)		9e-08	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
406918595	GWAS567571_H	low density lipoprotein cholesterol measurement QTL GWAS567571 (human)		8e-09	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597044884	GWAS1140958_H	Abnormality of refraction QTL GWAS1140958 (human)		2e-09	Abnormality of refraction		7	137920089	137920090	Human
597084316	GWAS1180390_H	monocyte count QTL GWAS1180390 (human)		1e-10	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	7	137915944	137915945	Human
597620117	GWAS1676977_H	total cholesterol measurement QTL GWAS1676977 (human)		1e-14	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875574	137875575	Human
597580565	GWAS1637425_H	low density lipoprotein cholesterol measurement QTL GWAS1637425 (human)		1e-16	low density lipoprotein cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875574	137875575	Human
597596946	GWAS1653806_H	low density lipoprotein cholesterol measurement QTL GWAS1653806 (human)		3e-21	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875574	137875575	Human
597324182	GWAS1420256_H	BMI-adjusted waist circumference QTL GWAS1420256 (human)		2e-12	body size trait (VT:0100005)		7	137919234	137919235	Human
597243925	GWAS1339999_H	IGF-1 measurement QTL GWAS1339999 (human)		6e-13	IGF-1 measurement	blood insulin-like growth factor 1 level (CMO:0001297)	7	137926820	137926821	Human
597136388	GWAS1232462_H	diastolic blood pressure, systolic blood pressure QTL GWAS1232462 (human)		0.0000008	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	7	137914629	137914630	Human
597324169	GWAS1420243_H	BMI-adjusted waist circumference QTL GWAS1420243 (human)		1e-08	body size trait (VT:0100005)		7	137929823	137929824	Human
597265293	GWAS1361367_H	low density lipoprotein cholesterol measurement QTL GWAS1361367 (human)		8e-22	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137877115	137877116	Human
406893524	GWAS542500_H	pulse pressure measurement QTL GWAS542500 (human)		3e-08	pulse pressure measurement	pulse pressure (CMO:0000292)	7	137915944	137915945	Human
596979202	GWAS1098721_H	body height QTL GWAS1098721 (human)		3e-22	body height		7	137926820	137926821	Human
597032843	GWAS1128917_H	smoking status measurement, low density lipoprotein cholesterol measurement QTL GWAS1128917 (human)		1e-09	smoking status measurement, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597597246	GWAS1654106_H	low density lipoprotein cholesterol measurement QTL GWAS1654106 (human)		2e-19	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875574	137875575	Human
597274299	GWAS1370373_H	low density lipoprotein cholesterol measurement QTL GWAS1370373 (human)		6e-22	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137877998	137877999	Human
597032881	GWAS1128955_H	low density lipoprotein cholesterol measurement QTL GWAS1128955 (human)		0.000004	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597032880	GWAS1128954_H	low density lipoprotein cholesterol measurement QTL GWAS1128954 (human)		0.000001	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597580470	GWAS1637330_H	low density lipoprotein cholesterol measurement QTL GWAS1637330 (human)		2e-11	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875574	137875575	Human
597259697	GWAS1355771_H	total cholesterol measurement QTL GWAS1355771 (human)		2e-27	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137877115	137877116	Human
597316149	GWAS1412223_H	diastolic blood pressure, systolic blood pressure QTL GWAS1412223 (human)		5e-08	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	7	137914629	137914630	Human
597032869	GWAS1128943_H	smoking status measurement, low density lipoprotein cholesterol measurement QTL GWAS1128943 (human)		1e-14	smoking status measurement, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597109927	GWAS1206001_H	total cholesterol measurement QTL GWAS1206001 (human)		0.000002	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137877922	137877923	Human
597111079	GWAS1207153_H	total cholesterol measurement QTL GWAS1207153 (human)		2e-08	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137877922	137877923	Human
597607466	GWAS1664326_H	total cholesterol measurement QTL GWAS1664326 (human)		1e-24	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875574	137875575	Human
597032867	GWAS1128941_H	smoking status measurement, low density lipoprotein cholesterol measurement QTL GWAS1128941 (human)		6e-10	smoking status measurement, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597269539	GWAS1365613_H	BMI-adjusted hip circumference QTL GWAS1365613 (human)		6e-09	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	7	137926550	137926551	Human
597334948	GWAS1431022_H	total cholesterol measurement QTL GWAS1431022 (human)		2e-10	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137877998	137877999	Human
597620058	GWAS1676918_H	total cholesterol measurement QTL GWAS1676918 (human)		1e-20	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875574	137875575	Human
597253727	GWAS1349801_H	alkaline phosphatase measurement QTL GWAS1349801 (human)		2e-12	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	7	137912259	137912260	Human
407095556	GWAS744532_H	low density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS744532 (human)		8e-15	low density lipoprotein cholesterol measurement, alcohol drinking	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597580119	GWAS1636979_H	low density lipoprotein cholesterol measurement QTL GWAS1636979 (human)		4e-18	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875574	137875575	Human
597140039	GWAS1236113_H	total cholesterol measurement QTL GWAS1236113 (human)		0.0000008	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875053	137875054	Human
597222472	GWAS1318546_H	BMI-adjusted waist circumference QTL GWAS1318546 (human)		3e-08	body size trait (VT:0100005)		7	137919234	137919235	Human
597342795	GWAS1438869_H	high density lipoprotein cholesterol measurement QTL GWAS1438869 (human)		4e-13	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	7	137875053	137875054	Human
407085201	GWAS734177_H	low density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS734177 (human)		3e-10	low density lipoprotein cholesterol measurement, alcohol drinking	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597619914	GWAS1676774_H	total cholesterol measurement QTL GWAS1676774 (human)		4e-22	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875574	137875575	Human
597339471	GWAS1435545_H	total cholesterol measurement QTL GWAS1435545 (human)		9e-32	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137877115	137877116	Human
597027266	GWAS1123340_H	low density lipoprotein cholesterol measurement QTL GWAS1123340 (human)		0.0000006	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597142602	GWAS1238676_H	COVID-19 QTL GWAS1238676 (human)		0.000007	COVID-19		7	137910192	137910193	Human
407082909	GWAS731885_H	low density lipoprotein cholesterol measurement QTL GWAS731885 (human)		0.000002	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597167303	GWAS1263377_H	alkaline phosphatase measurement QTL GWAS1263377 (human)		1e-08	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	7	137907270	137907271	Human
597223033	GWAS1319107_H	BMI-adjusted waist circumference QTL GWAS1319107 (human)		8e-10	body size trait (VT:0100005)		7	137929801	137929802	Human
597027191	GWAS1123265_H	low density lipoprotein cholesterol measurement QTL GWAS1123265 (human)		8e-08	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875053	137875054	Human
597597304	GWAS1654164_H	low density lipoprotein cholesterol measurement QTL GWAS1654164 (human)		4e-13	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	7	137875574	137875575	Human
597323252	GWAS1419326_H	high density lipoprotein cholesterol measurement QTL GWAS1419326 (human)		2e-09	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	7	137879333	137879334	Human
597056230	GWAS1152304_H	BMI-adjusted waist circumference QTL GWAS1152304 (human)		2e-18	body size trait (VT:0100005)		7	137914629	137914630	Human
597056231	GWAS1152305_H	BMI-adjusted waist circumference QTL GWAS1152305 (human)		4e-12	body size trait (VT:0100005)		7	137941542	137941543	Human
597056229	GWAS1152303_H	BMI-adjusted waist circumference QTL GWAS1152303 (human)		3e-08	body size trait (VT:0100005)		7	137899174	137899175	Human
597267053	GWAS1363127_H	high density lipoprotein cholesterol measurement QTL GWAS1363127 (human)		2e-09	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	7	137877115	137877116	Human
597607657	GWAS1664517_H	total cholesterol measurement QTL GWAS1664517 (human)		2e-25	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137875574	137875575	Human
597215727	GWAS1311801_H	pulse pressure measurement QTL GWAS1311801 (human)		0.0000002	pulse pressure measurement	pulse pressure (CMO:0000292)	7	137915944	137915945	Human
597258980	GWAS1355054_H	total cholesterol measurement QTL GWAS1355054 (human)		5e-26	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	7	137877115	137877116	Human

STS-N24079

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,597,620 - 137,597,824	UniSTS	GRCh37
Build 36	7	137,248,160 - 137,248,364	RGD	NCBI36
Celera	7	132,336,594 - 132,336,798	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,905,448 - 131,905,652	UniSTS
CRA_TCAGchr7v2	7	136,943,005 - 136,943,209	UniSTS
GeneMap99-GB4 RH Map	7	632.58	UniSTS

SHGC-37420

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,563,924 - 137,564,024	UniSTS	GRCh37
Build 36	7	137,214,464 - 137,214,564	RGD	NCBI36
Celera	7	132,302,889 - 132,302,989	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,871,750 - 131,871,850	UniSTS
CRA_TCAGchr7v2	7	136,909,307 - 136,909,407	UniSTS

GDB:4585629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,567,661 - 137,567,723	UniSTS	GRCh37
Build 36	7	137,218,201 - 137,218,263	RGD	NCBI36
Celera	7	132,306,626 - 132,306,688	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,875,487 - 131,875,549	UniSTS
CRA_TCAGchr7v2	7	136,913,044 - 136,913,106	UniSTS

SHGC-52613

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,655,325 - 137,655,561	UniSTS	GRCh37
Build 36	7	137,305,865 - 137,306,101	RGD	NCBI36
Celera	7	132,394,139 - 132,394,375	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,963,552 - 131,963,788	UniSTS
CRA_TCAGchr7v2	7	137,000,554 - 137,000,790	UniSTS
TNG Radiation Hybrid Map	7	60568.0	UniSTS

G20729

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,559,806 - 137,559,925	UniSTS	GRCh37
Build 36	7	137,210,346 - 137,210,465	RGD	NCBI36
Celera	7	132,298,773 - 132,298,892	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,867,635 - 131,867,754	UniSTS
CRA_TCAGchr7v2	7	136,905,190 - 136,905,309	UniSTS

A006D34

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,559,806 - 137,559,925	UniSTS	GRCh37
Build 36	7	137,210,346 - 137,210,465	RGD	NCBI36
Celera	7	132,298,773 - 132,298,892	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,867,635 - 131,867,754	UniSTS
CRA_TCAGchr7v2	7	136,905,190 - 136,905,309	UniSTS
GeneMap99-GB4 RH Map	7	632.58	UniSTS

SHGC-132011

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,598,470 - 137,598,743	UniSTS	GRCh37
GRCh37	11	63,527,419 - 63,527,692	UniSTS	GRCh37
Build 36	7	137,249,010 - 137,249,283	RGD	NCBI36
Celera	11	60,853,293 - 60,853,566	UniSTS
Celera	7	132,337,444 - 132,337,717	RGD
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	59,857,110 - 59,857,383	UniSTS
HuRef	7	131,906,298 - 131,906,571	UniSTS
CRA_TCAGchr7v2	7	136,943,855 - 136,944,128	UniSTS
TNG Radiation Hybrid Map	7	60758.0	UniSTS

D7S737

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,624,666 - 137,624,868	UniSTS	GRCh37
Build 36	7	137,275,206 - 137,275,408	RGD	NCBI36
Celera	7	132,363,601 - 132,363,803	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,932,909 - 131,933,111	UniSTS
CRA_TCAGchr7v2	7	136,970,012 - 136,970,214	UniSTS

GDB:1318288

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,641,501 - 137,641,568	UniSTS	GRCh37
Build 36	7	137,292,041 - 137,292,108	RGD	NCBI36
Celera	7	132,380,317 - 132,380,384	RGD
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,949,730 - 131,949,797	UniSTS
CRA_TCAGchr7v2	7	136,986,728 - 136,986,795	UniSTS

D7S1898

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,575,058 - 137,575,140	UniSTS	GRCh37
Build 36	7	137,225,598 - 137,225,680	RGD	NCBI36
Celera	7	132,314,023 - 132,314,105	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,882,884 - 131,882,966	UniSTS
CRA_TCAGchr7v2	7	136,920,441 - 136,920,523	UniSTS

SHGC-32616

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,660,292 - 137,660,419	UniSTS	GRCh37
Build 36	7	137,310,832 - 137,310,959	RGD	NCBI36
Celera	7	132,399,100 - 132,399,227	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,968,514 - 131,968,641	UniSTS
CRA_TCAGchr7v2	7	137,005,517 - 137,005,644	UniSTS
TNG Radiation Hybrid Map	7	60514.0	UniSTS
GeneMap99-GB4 RH Map	7	633.31	UniSTS
Whitehead-RH Map	7	606.1	UniSTS
GeneMap99-G3 RH Map	7	7492.0	UniSTS

D7S2910

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,559,895 - 137,560,039	UniSTS	GRCh37
Build 36	7	137,210,435 - 137,210,579	RGD	NCBI36
Celera	7	132,298,862 - 132,299,006	RGD
Cytogenetic Map	7	q34	UniSTS
HuRef	7	131,867,724 - 131,867,868	UniSTS
CRA_TCAGchr7v2	7	136,905,279 - 136,905,423	UniSTS
TNG Radiation Hybrid Map	7	60702.0	UniSTS
Stanford-G3 RH Map	7	6987.0	UniSTS
NCBI RH Map	7	1223.7	UniSTS
GeneMap99-G3 RH Map	7	7488.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2250	4974	1726	2351	6	624	1944	465	2270	7302	6468	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001253775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001318246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_194071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005250541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC022173	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ549092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ549387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK131517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC046181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110813	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC131723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ711676	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX649143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN394705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000330387 ⟹ ENSP00000329140

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,874,979 - 138,002,086 (-)	Ensembl

Ensembl Acc Id:

ENST00000420629 ⟹ ENSP00000402889

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,912,834 - 137,928,269 (-)	Ensembl

Ensembl Acc Id:

ENST00000452463 ⟹ ENSP00000410314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,912,811 - 138,002,047 (-)	Ensembl

Ensembl Acc Id:

ENST00000456390 ⟹ ENSP00000403550

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,884,267 - 138,002,067 (-)	Ensembl

Ensembl Acc Id:

ENST00000458726 ⟹ ENSP00000388917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,912,824 - 137,933,890 (-)	Ensembl

Ensembl Acc Id:

ENST00000468127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,999,659 - 138,002,047 (-)	Ensembl

Ensembl Acc Id:

ENST00000616381 ⟹ ENSP00000478432

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,874,981 - 138,001,827 (-)	Ensembl

Ensembl Acc Id:

ENST00000620715 ⟹ ENSP00000478809

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	137,878,841 - 138,001,866 (-)	Ensembl

RefSeq Acc Id:

NM_001253775 ⟹ NP_001240704

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	137,912,824 - 138,002,086 (-)	NCBI
GRCh37	7	137,559,725 - 137,686,847 (-)	NCBI
HuRef	7	131,867,554 - 131,994,857 (-)	NCBI
CHM1_1	7	137,531,158 - 137,620,361 (-)	NCBI
T2T-CHM13v2.0	7	139,221,934 - 139,311,621 (-)	NCBI
CRA_TCAGchr7v2	7	136,905,109 - 137,032,069 (-)	NCBI

Sequence:

show sequence

AGAGCCGAGGAGCCCTGGGGTCCCTCAAAGTTTGTGTCTGGAGCCGTAGCGGCAAGTGGGCTTGCGGCTAAGGGATTTTCCTGGGATGAGAGCGGGTCTTCTGCCTTCATTTTGGATGCACATCCCGC
TTTAGCCCCGGCAGCCTTTGGTCCGGCTCGTGTCCCTGGGGATTCTCGGATCTCCGAGGACACCGGACGGGAGCGCTTGGCCATCCTCTCTCCGGCAGAGGAGCAGACGTTTGCTTTCCAAGTGCAAA
ACTACAGACACGCGCGCGCACACACGCAAGCACACGCGGAGAGAGAGGAACCTTGCCGGTCCGAGGCAGCTCTGCGCGTCCCCTCCTGCGCTTAGCATCCTCGGCCCAGCGCGGCCCGCACCGCCATG
GAGGTGCTGGAGAGCGGGGAGCAGGGCGTGCTGCAGTGGGACCGCAAGCTGAGCGAGCTGTCAGAGCCCGGGGACGGCGAGGCCCTCATGTACCACACGCACTTCTCAGAACTTCTGGATGAGTTTTC
CCAGAACGTCTTGGGTCAGCTCCTGAATGATCCTTTCCTCTCAGAGAAGAGTGTGTCAATGGAGGTGGAACCTTCCCCGACGTCCCCGGCGCCTCTCATCCAGGCTGAGCACAGCTACTCCCTGTGCG
AGGAGCCTCGGGCCCAGTCGCCCTTCACCCACATTACCACCAGTGACAGCTTCAATGACGATGAGGTGGAAAGTGAGAAATGGTACCTGTCTACAGACTTCCCTTCAACATCCATCAAGACAGAGCCA
GTTACAGACGAACCACCCCCAGGACTCGTTCCGTCTGTCACTCTGACCATCACAGCCATCTCCACCCCGTTGGAAAAGGAGGAACCTCCTCTGGAAATGAACACTGGGGTTGATTCCTCGTGCCAGAC
CATTATTCCTAAAATTAAGCTGGAGCCTCATGAAGTGGATCAGTTTCTAAACTTCTCTCCTAAAGAAGGTCTGTCTGCCCTCCCTGTGTCCCTTTGGGTTATGGATATGGTCTCTGGGTCTACAGAGA
GGGAATATGGCGAGAGAGCTGGGATGAGTTTGTACCACAGATGTTGTAGCTGGCTTTATGAAATAGCTCTGTTCTTAAAAAATAAAAATTTTGCTTCCAAATAAAAA

hide sequence

RefSeq Acc Id:

NM_001318246 ⟹ NP_001305175

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	137,874,979 - 137,932,988 (-)	NCBI
CHM1_1	7	137,493,293 - 137,551,334 (-)	NCBI
T2T-CHM13v2.0	7	139,184,080 - 139,242,067 (-)	NCBI

Sequence:

show sequence

AGCGTTACCTGGGAGCTGATGAAAAATGCAGAATCTCGGGCCTGCTTAGACCTGTGAGTCAGAAGCGACGGCTTAGGAGCCCCAGCACTTCTCAGAACTTCTGGATGAGTTTTCCCAGAACGTCTTGG
GTCAGCTCCTGAATGATCCTTTCCTCTCAGAGAAGAGTGTGTCAATGGAGGTGGAACCTTCCCCGACGTCCCCGGCGCCTCTCATCCAGGCTGAGCACAGCTACTCCCTGTGCGAGGAGCCTCGGGCC
CAGTCGCCCTTCACCCACATTACCACCAGTGACAGCTTCAATGACGATGAGGTGGAAAGTGAGAAATGGTACCTGTCTACAGACTTCCCTTCAACATCCATCAAGACAGAGCCAGTTACAGACGAACC
ACCCCCAGGACTCGTTCCGTCTGTCACTCTGACCATCACAGCCATCTCCACCCCGTTGGAAAAGGAGGAACCTCCTCTGGAAATGAACACTGGGGTTGATTCCTCGTGCCAGACCATTATTCCTAAAA
TTAAGCTGGAGCCTCATGAAGTGGATCAGTTTCTAAACTTCTCTCCTAAAGAAGCCCCAGTGGACCACCTGCATTTGCCGCCCACCCCTCCGAGCAGTCACGGCAGTGACTCAGAGGGCAGCCTGAGT
CCCAACCCACGCCTGCACCCCTTCAGCCTGCCTCAGACCCACAGCCCCTCCAGAGCTGCACCCCGGGCCCCCTCCGCCCTCTCCAGCTCCCCTCTCCTCACGGCTCCTCATAAACTGCAGGGATCAGG
CCCTCTGGTCCTGACAGAGGAGGAGAAGAGGACCCTGATCGCTGAGGGCTATCCCATCCCCACCAAATTGCCCCTGTCAAAATCAGAGGAGAAGGCCCTGAAGAAAATTCGGAGGAAGATCAAGAATA
AGATTTCTGCTCAGGAAAGTAGGAGAAAGAAGAAAGAATACATGGACAGCCTGGAGAAAAAAGTGGAGTCTTGTTCAACTGAGAACTTGGAGCTTCGGAAGAAGGTAGAGGTTCTAGAGAACACTAAT
AGGACTCTCCTTCAGCAACTCCAGAAGCTTCAGACTTTGGTGATGGGCAAGGTTTCTCGAACCTGCAAGTTAGCTGGCACGCAGACTGGCACCTGCCTCATGGTTGTGGTGCTGTGCTTTGCCGTTGC
ATTCGGCAGCTTCTTTCAAGGCTACGGGCCCTATCCTTCTGCCACCAAGATGGCTCTGCCCAGCCAGCATTCCCTGCAGGAGCCCTACACAGCCTCCGTGGTGAGATCCAGAAACCTGCTGATCTACG
AGGAACATTCTCCCCCAGAGGAGTCATCCAGCCCGGGCTCGGCTGGGGAGCTGGGGGGCTGGGATAGAGGTTCCTCCCTGCTCAGGGTGTCAGGGCTGGAGTCCAGGCCGGATGTGGATCTTCCCCAT
TTCATTATCTCGAATGAGACCAGCCTGGAGAAGTCAGTGCTTTTGGAGCTGCAGCAGCACCTGGTCAGCGCCAAACTGGAGGGGAATGAAACACTAAAAGTTGTAGAACTCGACAGAAGAGTGAACAC
CACTTTCTAAAGAGGCTGCCTGCACCCCCTCCCTTTCCCTTAACTCTACTTTTACATCCCCAAACCACCTTTGTCATCAGCTTTTCCTCTTTGCCACTGGATCTTCATGGAGACATGGGCAAGCATTA
GTGGCTTCAGATTGGAGACCAGCCTGGGACTTCCCTGCAGTGAGAGAGCATCTCCCCCTGGTCCATGCCCCTCCTGTGCAGAAGGGAGCCTGCATCCCTCCCTTCCTTTCTCTTACTGCCATAGGAAA
TTATTTTAGGGGTTGGAGGTGGGACAAGCAGGCTTGTTTCCACCAATAGTGCCAAAAAGATATTGCCTAATGTGCACCTGTGAGGTGTAACCCCCCGCTTTGGAGACGAGATGGCTCTTGTTCAGTCA
AGACCCCAGACTCTGGCCACAAAAATGCCATAATGCCTGTTGGTATTTGGCAAAGCACTGACCCGTGTCCTCCGTTGCTCGCACTGGGGTCTCTGGTGTGAACACCCCCGACAGCAGCCCTCCGCCCA
CTCTGCCCCCTGGGAGCCCTCGCTGGATCGTCTCGTCTCCTGCAGCAGCACTGGCAGGCGAGGGCTCTCGTTCATATTCTCAGGCCGCAAGTGCAATGCCTGAGGGGATCAGGCTTTTCTACTCCAGG
CAAACCTGCCCCATCTTGTCGCTTTTAGGACCTCCCACAACCTGGTTCCCCACACATCCATAGTTCTGCCTCCCCAGCTTCTCCTCCCCAGTTGTAAATAGTATTTATTAGCTTGCCGAGGCTTCCTG
CTAGCAACCACACTGAAGAGATCGATGCCTCCTTTCAAGCTAGCCAAGTTTTCTGCGAGCCTTCAGAGCTAGGAGGGCACCCTAGGCTCTGGGATCCCGTGTCTTTCCAGACAATGTTTTGTTTCCTT
TCCTTTGTTTTTTCTTTTAACTGGAATAATTACCATTGAAAAAGAAGTTCCTTTGAGCATGTATGTGTCTGCCTCTAGGATGAGCTCAGAGCGAGAGATGACACAATGCCTCACTCAGGCCCCGGGCT
CCCTGGCCACAAGCTTTTTCTATCCTGTTTTCATGACAGAGAAGGGGAAGCCCTGTTCTGACAACAGACATTTCAGACAACCTTGCTGGCTTTCCACACCTGCCTGGCCCCCTCCTCCCTCCACACTT
CCACTTTGTCCTCCTCGTCCCCTACCTCAACAAAGCAGGGTGGGGTAGGTGACATTTGTGTATCCACATTCTTACCTTTGGTAGTCAGGTTTGGCTACTTTGCAGCTCGCCCAAAGAGATACAACCTA
ATCCCCAACCTACTTTTAGTTTTTTTGTTTTTTTTTTATGGTTAAAAGTAACTTTTGTAGTTTAAAAAAATCTTTCCTCTTTCATATAAATAAGAAGTGGAAATTGCCTTTTTATTGTGTAATGTAGA
AAACCCTCAAGTGTTTTTTCCGAGCTTGGGAAAGATTTTGTGTAGGAAATGTGCATAGAGTTTGTATTTTATTTTTATTAGCAGCTGAAATGCCTTTGGTTTTGGCTTCTCTCTCTCCCTCTCTCTCT
CTGTCTCTCCTTCTCTCTCTCCCCCCACCACCCACCCCCACACACGTCATCTGCATTGTTATTGGAGCCTGTACTTAGAGGGATTAAGCCCACACCCTGGCTTCCATTCCATATCAGGTACAGGATTT
GATGTTATTAACATTTGTCGTCATACCTCATAAGTCGGTCCCTGCCTTGTCTGTCTAGGCCCATTTGGGGCTCCCTGTGAGTGATTCCCCTCTCTCTGCTATGCTGGAGACGGTTCCAGCCTGGAAAG
CGGCCAAGTTCATCTTCTCACTGTGAGTGGAAGCTGGATCGGGCCCCCGTAGTCCTGGCAGCCCTGTTGTCTGGAGGGTTCTTGTTGTCCCTCCCATTAGCCAGGGCGGAGACTGTCTGAGCTGTGCA
GGAGGAGGGTTGCTAGTAGGTTCTGCTTCTGCTTCTCTCTGCTCCACTGTCTGCAGCCCAGATCCTGTTGGGCCTGGCTGGTGTCTGGTAACCATGGGCCTCCACTGACCCATCCCTCTCTTTTAAAC
TGTCAGGTCATTATCAGGCATAGGCAGCCTATAGGGCCCAAAGAAGGCAAAAAGATAAGATTTACTCAAGTAGCATTTGGGCAATGAGGAAGGAAAGGTTTCAAATTTAGGGGCAGAAGTGAGAGAAT
GAGCCAACCCATGTACCTGCTGCAACTGAACCAGACTGGGTTTTCAAGGCTCCCAGACGTAGAGTAGGAAACGTGCTCTTCTAAATGAGGAGGGAGAAGATAAAGGAAACTTCTAGCCCCTGTCCTTA
GTGCTTTGAGGATTTTATTTTCTCCCTTACTACGCTTGCTTGACGTCACTCTCTCTCGACCTCCAAACAGCAGGACTCTTTCTCTGGGAAACCATCCTTCCAAAACGGAATCTATGTAGACAATGGGA
CGTTAGGCAGAGAGCTCAGATGGCCCTTTTAAGGGGGCTCCAAGAACCAACATCACTGCTCTTTTAGATAAACCTCTGCCCTCCACTCCTTGCTTGAGTGGGTTAAAGGAACTAACAGTTGTCCCTTT
AGGAGGACAAAATGGGGTCAAGAGGACACAGAAGAGTTGTATAGCACCAGATTGGTTCCAAATAGTTAATGGATGTGTGCACATTTTCTGTTCAGGGATTAAGACCAGAATATCAGTGGATTTGTTTT
CCCCACCAAGTGGCCTCTTAGACTAGTCATTAACTTATGATTAGCTCTAAAGATTTCAAATAGTGGCAGACAGTGTCTTCTGAATGTAAGTTTTGAGAAATACGAGTCTGTCAGAGCGGCCATAAGCC
ATAAAGAGTCAATCTCTTAATTATATTTTTCATCATGTAAACAAGTTTCCCATTTCCCTTTCTTAGATTGCACCAGTGAAGGAGATGTTTTGCAAAGATTCAGAGAACTAATTTTTCACTGGATAAGA
CCTGAGTAACCCAGACCCCCCACCGTGGTTCTTTTCACAGCCCTCGACTTTGCACTTAAAAAGGGATATTGTAAATGAAAGGCTGCAGTGCCAGTTTTAAGAAAGAATTTCTGTGAAGTGTGAGGACT
CTGGAGTCTAGCTCACATAAAGAGAGTGTTATATAAAAATCCGACAGCTGAACTAGGTTGCTCTTTTTTGGCAGGGAGTGGGGATGAGATTTGACACCAATATGGGCAAAATTAGATAACCTTTTGGT
TAATATAAATGATTTTGATTTGGAGGCCTAATTTGTAGATTGTGAAAGCAGCTTTTAGTTTAACTTATTCACAGACCCCTTATAATTACCATGTTTTTTTTTTTCTTCCTAAATCTCTTGGTTCAGCT
TGTGAATCTTACGTGCCCGTAAAGTTGGGATGTTGAATTGGCTCTTCTTTGTTCTGGCAGTGAGTCAAGTGTCCAGCATTTTTTCATAAGTGTTTTTTAAAATTGTTCTCCAGCATTTTATGGCTCCT
CCCTCCCATGTCCTCAGACCCAGCAAAAGCGTAGAGGCAGAATTAGAGGCCTCTCCAGGCCAGCTCCTCTGCCCACATGTCATACAAGGTGTGAATTTGAGCACAGTCCAGAAATGGAGACATCCCAC
CCCCAGTTGAATAATGGCCCATTCATGCCAACCTTGCCAACACGGAGAGGGCAGAGATGCACTAGAAGACCTTCATCCTCCCCTTCCTCTGCCCCAAGTCACTACAGTTGGTTCTATTGAAGCCAGTC
TTTAAGAAACCTGGGTTAAAGACACCAGCACTTCTGCTTGCTGGGCTGGCTGGACCTGTGAAGCCATGGGCAGGTAGTGCCCTCTTGAGAGTCATTTTATTTGGCCACCTTCAGGTGAGACTATCCAT
AGACACATGCTAGGATAGGCCCCGCTGGGAGGGCAGTTACAGGAGAGAGTAGGTGGTGGTGACGTGAGGGCTGTGAAGGATCCAGAGACAAGACTTAGATGTTTCGTTCATTCACTCACTCATTCAGT
TACTCCTAAGACTTTTCAGTTTCATAAGGAAGAGTGTTGCCTGAGGCCCTAGGGAATATTGGGGAATAGAAGGGATTGAGGAAACATTAATAATAGTTATTCAAAAGACCCAAATGCTTATACTTCTC
TCTCCCTTCTTCTCTCTCTGACACACACACACACACACACACACACACACACACACACGTGCACATTCCTCCCTTACATGCTCATTTGTGCCTTAAATGTGCCTTATAGGTAAATCCAGGATGACTGA
GGAATCCCTCGTCACTGGGAGATTTTGTATATATTCTTTTATTATTAGATTGAGTTGGGTGTGGGGAAAAATTTTTTTCTGAAGGCTCAAAAGTGGTTTCCTAAAAGTGAGCCACTATCAGATTTGCA
CATCAGGAGAAAAGAAATAGGGTTACGTCCATTAGGAAAATCCCAGTTTGCAGGAGTGCAATCACATCAAAAAAACAACCAGCCAGGATTAAAGGTATTATAAATCCTCATAGCGGAACATTTCTCAG
GGCAAAGGAACCTGGCTCATTTGAAGATTAATGTTCCATGCCTTTGTGGTCAAAGGGTCAGCACTTAACACAGGAAAAAACTAGGTGTTGTTTTGTTTTGTTATTTTGGACAACATAAAATTCAGGAA
TGTTTTATTTAGCCTTGGTTTCTAGAAGGAAGGGAAATAATATTTCTTGAGCATTTACTAGGGTGTTGCGTGCTGTGCTAAGTAAATTTTAAGTCTTTCAGTTTTATAGATACGGAAAACAAGGGTGA
CTCTTTACCACAGGATGAATAAAGAACTAAGTAATATGGGAAATGCAGCAATTTCTGGACTAGCTGAGCCGATTCCTTCCTGTGAGCACACTGTAAGCTTTCAAGTTCTCTGGGCAGGAATTACAGCA
CCTGTCCCCTGCAATGGCCCTGCTGTGTGATGCTCATCGCTTCCCTTCGTGCTGGAGCAGTCCCCCAGGTGTCCATCTCCTATCTTTTTGTTCCAATCTTCTGTGAGTTCCAGCTAGCAGGCTTTACA
TCTGGGGAAAGGAAAACCAGGGGTTTTAGCTCTGTTCTCTGCTCCCATCCTTCGCTCACCAGCTGAGTGAGAACATGAACTTTTTGCACCATGTACCCATGGCTTACACTACTTAGAAAATCACCTTT
TCAGATAAAACAGTTTATGAGTTCATAGAGAACACCAGCACTCTTTGACAAAACTGTGAGTGACCCTTTTTAAACAATGCTGAGCAGGCCCTGAGCTATAATCAACGGTGAGCTTTAATGTCTATGCT
GACAGTTAGGTTTTGCTCTCTTTTGTAACAGGTTACGTAGACCAGCAGTGTTTAAATCTAAATACGTTGTGAGTCTGTTATCTGTCCTATCGCGTTTTTTAAATGACTTTTTATTCTTTATCATAGCT
AAGTAAATACCAAAAAAAAAAAAAAGCTTTGTAGGACACTTGTACTTAGTTTGGGAAAAAAAAATAAATTGAAATTGTTATGCTTTTGTATTTCCATTTCTTGCAAATAAATATTTTTTCTTAAATAG
TAA

hide sequence

RefSeq Acc Id:

NM_194071 ⟹ NP_919047

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	137,874,979 - 138,002,086 (-)	NCBI
GRCh37	7	137,559,725 - 137,686,847 (-)	NCBI
Build 36	7	137,210,265 - 137,337,386 (-)	NCBI Archive
HuRef	7	131,867,554 - 131,994,857 (-)	NCBI
CHM1_1	7	137,493,293 - 137,620,361 (-)	NCBI
T2T-CHM13v2.0	7	139,184,080 - 139,311,621 (-)	NCBI
CRA_TCAGchr7v2	7	136,905,109 - 137,032,069 (-)	NCBI

Sequence:

show sequence

AGAGCCGAGGAGCCCTGGGGTCCCTCAAAGTTTGTGTCTGGAGCCGTAGCGGCAAGTGGGCTTG
CGGCTAAGGGATTTTCCTGGGATGAGAGCGGGTCTTCTGCCTTCATTTTGGATGCACATCCCGCTTTAGCCCCGGCAGCCTTTGGTCCGGCTCGTGTCCCTGGGGATTCTCGGATCTCCGAGGACACC
GGACGGGAGCGCTTGGCCATCCTCTCTCCGGCAGAGGAGCAGACGTTTGCTTTCCAAGTGCAAAACTACAGACACGCGCGCGCACACACGCAAGCACACGCGGAGAGAGAGGAACCTTGCCGGTCCGA
GGCAGCTCTGCGCGTCCCCTCCTGCGCTTAGCATCCTCGGCCCAGCGCGGCCCGCACCGCCATGGAGGTGCTGGAGAGCGGGGAGCAGGGCGTGCTGCAGTGGGACCGCAAGCTGAGCGAGCTGTCAG
AGCCCGGGGACGGCGAGGCCCTCATGTACCACACGCACTTCTCAGAACTTCTGGATGAGTTTTCCCAGAACGTCTTGGGTCAGCTCCTGAATGATCCTTTCCTCTCAGAGAAGAGTGTGTCAATGGAG
GTGGAACCTTCCCCGACGTCCCCGGCGCCTCTCATCCAGGCTGAGCACAGCTACTCCCTGTGCGAGGAGCCTCGGGCCCAGTCGCCCTTCACCCACATTACCACCAGTGACAGCTTCAATGACGATGA
GGTGGAAAGTGAGAAATGGTACCTGTCTACAGACTTCCCTTCAACATCCATCAAGACAGAGCCAGTTACAGACGAACCACCCCCAGGACTCGTTCCGTCTGTCACTCTGACCATCACAGCCATCTCCA
CCCCGTTGGAAAAGGAGGAACCTCCTCTGGAAATGAACACTGGGGTTGATTCCTCGTGCCAGACCATTATTCCTAAAATTAAGCTGGAGCCTCATGAAGTGGATCAGTTTCTAAACTTCTCTCCTAAA
GAAGCCCCAGTGGACCACCTGCATTTGCCGCCCACCCCTCCGAGCAGTCACGGCAGTGACTCAGAGGGCAGCCTGAGTCCCAACCCACGCCTGCACCCCTTCAGCCTGCCTCAGACCCACAGCCCCTC
CAGAGCTGCACCCCGGGCCCCCTCCGCCCTCTCCAGCTCCCCTCTCCTCACGGCTCCTCATAAACTGCAGGGATCAGGCCCTCTGGTCCTGACAGAGGAGGAGAAGAGGACCCTGATCGCTGAGGGCT
ATCCCATCCCCACCAAATTGCCCCTGTCAAAATCAGAGGAGAAGGCCCTGAAGAAAATTCGGAGGAAGATCAAGAATAAGATTTCTGCTCAGGAAAGTAGGAGAAAGAAGAAAGAATACATGGACAGC
CTGGAGAAAAAAGTGGAGTCTTGTTCAACTGAGAACTTGGAGCTTCGGAAGAAGGTAGAGGTTCTAGAGAACACTAATAGGACTCTCCTTCAGCAACTCCAGAAGCTTCAGACTTTGGTGATGGGCAA
GGTTTCTCGAACCTGCAAGTTAGCTGGCACGCAGACTGGCACCTGCCTCATGGTTGTGGTGCTGTGCTTTGCCGTTGCATTCGGCAGCTTCTTTCAAGGCTACGGGCCCTATCCTTCTGCCACCAAGA
TGGCTCTGCCCAGCCAGCATTCCCTGCAGGAGCCCTACACAGCCTCCGTGGTGAGATCCAGAAACCTGCTGATCTACGAGGAACATTCTCCCCCAGAGGAGTCATCCAGCCCGGGCTCGGCTGGGGAG
CTGGGGGGCTGGGATAGAGGTTCCTCCCTGCTCAGGGTGTCAGGGCTGGAGTCCAGGCCGGATGTGGATCTTCCCCATTTCATTATCTCGAATGAGACCAGCCTGGAGAAGTCAGTGCTTTTGGAGCT
GCAGCAGCACCTGGTCAGCGCCAAACTGGAGGGGAATGAAACACTAAAAGTTGTAGAACTCGACAGAAGAGTGAACACCACTTTCTAAAGAGGCTGCCTGCACCCCCTCCCTTTCCCTTAACTCTACT
TTTACATCCCCAAACCACCTTTGTCATCAGCTTTTCCTCTTTGCCACTGGATCTTCATGGAGACATGGGCAAGCATTAGTGGCTTCAGATTGGAGACCAGCCTGGGACTTCCCTGCAGTGAGAGAGCA
TCTCCCCCTGGTCCATGCCCCTCCTGTGCAGAAGGGAGCCTGCATCCCTCCCTTCCTTTCTCTTACTGCCATAGGAAATTATTTTAGGGGTTGGAGGTGGGACAAGCAGGCTTGTTTCCACCAATAGT
GCCAAAAAGATATTGCCTAATGTGCACCTGTGAGGTGTAACCCCCCGCTTTGGAGACGAGATGGCTCTTGTTCAGTCAAGACCCCAGACTCTGGCCACAAAAATGCCATAATGCCTGTTGGTATTTGG
CAAAGCACTGACCCGTGTCCTCCGTTGCTCGCACTGGGGTCTCTGGTGTGAACACCCCCGACAGCAGCCCTCCGCCCACTCTGCCCCCTGGGAGCCCTCGCTGGATCGTCTCGTCTCCTGCAGCAGCA
CTGGCAGGCGAGGGCTCTCGTTCATATTCTCAGGCCGCAAGTGCAATGCCTGAGGGGATCAGGCTTTTCTACTCCAGGCAAACCTGCCCCATCTTGTCGCTTTTAGGACCTCCCACAACCTGGTTCCC
CACACATCCATAGTTCTGCCTCCCCAGCTTCTCCTCCCCAGTTGTAAATAGTATTTATTAGCTTGCCGAGGCTTCCTGCTAGCAACCACACTGAAGAGATCGATGCCTCCTTTCAAGCTAGCCAAGTT
TTCTGCGAGCCTTCAGAGCTAGGAGGGCACCCTAGGCTCTGGGATCCCGTGTCTTTCCAGACAATGTTTTGTTTCCTTTCCTTTGTTTTTTCTTTTAACTGGAATAATTACCATTGAAAAAGAAGTTC
CTTTGAGCATGTATGTGTCTGCCTCTAGGATGAGCTCAGAGCGAGAGATGACACAATGCCTCACTCAGGCCCCGGGCTCCCTGGCCACAAGCTTTTTCTATCCTGTTTTCATGACAGAGAAGGGGAAG
CCCTGTTCTGACAACAGACATTTCAGACAACCTTGCTGGCTTTCCACACCTGCCTGGCCCCCTCCTCCCTCCACACTTCCACTTTGTCCTCCTCGTCCCCTACCTCAACAAAGCAGGGTGGGGTAGGT
GACATTTGTGTATCCACATTCTTACCTTTGGTAGTCAGGTTTGGCTACTTTGCAGCTCGCCCAAAGAGATACAACCTAATCCCCAACCTACTTTTAGTTTTTTTGTTTTTTTTTTATGGTTAAAAGTA
ACTTTTGTAGTTTAAAAAAATCTTTCCTCTTTCATATAAATAAGAAGTGGAAATTGCCTTTTTATTGTGTAATGTAGAAAACCCTCAAGTGTTTTTTCCGAGCTTGGGAAAGATTTTGTGTAGGAAAT
GTGCATAGAGTTTGTATTTTATTTTTATTAGCAGCTGAAATGCCTTTGGTTTTGGCTTCTCTCTCTCCCTCTCTCTCTCTGTCTCTCCTTCTCTCTCTCCCCCCACCACCCACCCCCACACACGTCAT
CTGCATTGTTATTGGAGCCTGTACTTAGAGGGATTAAGCCCACACCCTGGCTTCCATTCCATATCAGGTACAGGATTTGATGTTATTAACATTTGTCGTCATACCTCATAAGTCGGTCCCTGCCTTGT
CTGTCTAGGCCCATTTGGGGCTCCCTGTGAGTGATTCCCCTCTCTCTGCTATGCTGGAGACGGTTCCAGCCTGGAAAGCGGCCAAGTTCATCTTCTCACTGTGAGTGGAAGCTGGATCGGGCCCCCGT
AGTCCTGGCAGCCCTGTTGTCTGGAGGGTTCTTGTTGTCCCTCCCATTAGCCAGGGCGGAGACTGTCTGAGCTGTGCAGGAGGAGGGTTGCTAGTAGGTTCTGCTTCTGCTTCTCTCTGCTCCACTGT
CTGCAGCCCAGATCCTGTTGGGCCTGGCTGGTGTCTGGTAACCATGGGCCTCCACTGACCCATCCCTCTCTTTTAAACTGTCAGGTCATTATCAGGCATAGGCAGCCTATAGGGCCCAAAGAAGGCAA
AAAGATAAGATTTACTCAAGTAGCATTTGGGCAATGAGGAAGGAAAGGTTTCAAATTTAGGGGCAGAAGTGAGAGAATGAGCCAACCCATGTACCTGCTGCAACTGAACCAGACTGGGTTTTCAAGGC
TCCCAGACGTAGAGTAGGAAACGTGCTCTTCTAAATGAGGAGGGAGAAGATAAAGGAAACTTCTAGCCCCTGTCCTTAGTGCTTTGAGGATTTTATTTTCTCCCTTACTACGCTTGCTTGACGTCACT
CTCTCTCGACCTCCAAACAGCAGGACTCTTTCTCTGGGAAACCATCCTTCCAAAACGGAATCTATGTAGACAATGGGACGTTAGGCAGAGAGCTCAGATGGCCCTTTTAAGGGGGCTCCAAGAACCAA
CATCACTGCTCTTTTAGATAAACCTCTGCCCTCCACTCCTTGCTTGAGTGGGTTAAAGGAACTAACAGTTGTCCCTTTAGGAGGACAAAATGGGGTCAAGAGGACACAGAAGAGTTGTATAGCACCAG
ATTGGTTCCAAATAGTTAATGGATGTGTGCACATTTTCTGTTCAGGGATTAAGACCAGAATATCAGTGGATTTGTTTTCCCCACCAAGTGGCCTCTTAGACTAGTCATTAACTTATGATTAGCTCTAA
AGATTTCAAATAGTGGCAGACAGTGTCTTCTGAATGTAAGTTTTGAGAAATACGAGTCTGTCAGAGCGGCCATAAGCCATAAAGAGTCAATCTCTTAATTATATTTTTCATCATGTAAACAAGTTTCC
CATTTCCCTTTCTTAGATTGCACCAGTGAAGGAGATGTTTTGCAAAGATTCAGAGAACTAATTTTTCACTGGATAAGACCTGAGTAACCCAGACCCCCCACCGTGGTTCTTTTCACAGCCCTCGACTT
TGCACTTAAAAAGGGATATTGTAAATGAAAGGCTGCAGTGCCAGTTTTAAGAAAGAATTTCTGTGAAGTGTGAGGACTCTGGAGTCTAGCTCACATAAAGAGAGTGTTATATAAAAATCCGACAGCTG
AACTAGGTTGCTCTTTTTTGGCAGGGAGTGGGGATGAGATTTGACACCAATATGGGCAAAATTAGATAACCTTTTGGTTAATATAAATGATTTTGATTTGGAGGCCTAATTTGTAGATTGTGAAAGCA
GCTTTTAGTTTAACTTATTCACAGACCCCTTATAATTACCATGTTTTTTTTTTTCTTCCTAAATCTCTTGGTTCAGCTTGTGAATCTTACGTGCCCGTAAAGTTGGGATGTTGAATTGGCTCTTCTTT
GTTCTGGCAGTGAGTCAAGTGTCCAGCATTTTTTCATAAGTGTTTTTTAAAATTGTTCTCCAGCATTTTATGGCTCCTCCCTCCCATGTCCTCAGACCCAGCAAAAGCGTAGAGGCAGAATTAGAGGC
CTCTCCAGGCCAGCTCCTCTGCCCACATGTCATACAAGGTGTGAATTTGAGCACAGTCCAGAAATGGAGACATCCCACCCCCAGTTGAATAATGGCCCATTCATGCCAACCTTGCCAACACGGAGAGG
GCAGAGATGCACTAGAAGACCTTCATCCTCCCCTTCCTCTGCCCCAAGTCACTACAGTTGGTTCTATTGAAGCCAGTCTTTAAGAAACCTGGGTTAAAGACACCAGCACTTCTGCTTGCTGGGCTGGC
TGGACCTGTGAAGCCATGGGCAGGTAGTGCCCTCTTGAGAGTCATTTTATTTGGCCACCTTCAGGTGAGACTATCCATAGACACATGCTAGGATAGGCCCCGCTGGGAGGGCAGTTACAGGAGAGAGT
AGGTGGTGGTGACGTGAGGGCTGTGAAGGATCCAGAGACAAGACTTAGATGTTTCGTTCATTCACTCACTCATTCAGTTACTCCTAAGACTTTTCAGTTTCATAAGGAAGAGTGTTGCCTGAGGCCCT
AGGGAATATTGGGGAATAGAAGGGATTGAGGAAACATTAATAATAGTTATTCAAAAGACCCAAATGCTTATACTTCTCTCTCCCTTCTTCTCTCTCTGACACACACACACACACACACACACACACAC
ACACACACGTGCACATTCCTCCCTTACATGCTCATTTGTGCCTTAAATGTGCCTTATAGGTAAATCCAGGATGACTGAGGAATCCCTCGTCACTGGGAGATTTTGTATATATTCTTTTATTATTAGAT
TGAGTTGGGTGTGGGGAAAAATTTTTTTCTGAAGGCTCAAAAGTGGTTTCCTAAAAGTGAGCCACTATCAGATTTGCACATCAGGAGAAAAGAAATAGGGTTACGTCCATTAGGAAAATCCCAGTTTG
CAGGAGTGCAATCACATCAAAAAAACAACCAGCCAGGATTAAAGGTATTATAAATCCTCATAGCGGAACATTTCTCAGGGCAAAGGAACCTGGCTCATTTGAAGATTAATGTTCCATGCCTTTGTGGT
CAAAGGGTCAGCACTTAACACAGGAAAAAACTAGGTGTTGTTTTGTTTTGTTATTTTGGACAACATAAAATTCAGGAATGTTTTATTTAGCCTTGGTTTCTAGAAGGAAGGGAAATAATATTTCTTGA
GCATTTACTAGGGTGTTGCGTGCTGTGCTAAGTAAATTTTAAGTCTTTCAGTTTTATAGATACGGAAAACAAGGGTGACTCTTTACCACAGGATGAATAAAGAACTAAGTAATATGGGAAATGCAGCA
ATTTCTGGACTAGCTGAGCCGATTCCTTCCTGTGAGCACACTGTAAGCTTTCAAGTTCTCTGGGCAGGAATTACAGCACCTGTCCCCTGCAATGGCCCTGCTGTGTGATGCTCATCGCTTCCCTTCGT
GCTGGAGCAGTCCCCCAGGTGTCCATCTCCTATCTTTTTGTTCCAATCTTCTGTGAGTTCCAGCTAGCAGGCTTTACATCTGGGGAAAGGAAAACCAGGGGTTTTAGCTCTGTTCTCTGCTCCCATCC
TTCGCTCACCAGCTGAGTGAGAACATGAACTTTTTGCACCATGTACCCATGGCTTACACTACTTAGAAAATCACCTTTTCAGATAAAACAGTTTATGAGTTCATAGAGAACACCAGCACTCTTTGACA
AAACTGTGAGTGACCCTTTTTAAACAATGCTGAGCAGGCCCTGAGCTATAATCAACGGTGAGCTTTAATGTCTATGCTGACAGTTAGGTTTTGCTCTCTTTTGTAACAGGTTACGTAGACCAGCAGTG
TTTAAATCTAAATACGTTGTGAGTCTGTTATCTGTCCTATCGCGTTTTTTAAATGACTTTTTATTCTTTATCATAGCTAAGTAAATACCAAAAAAAAAAAAAAGCTTTGTAGGACACTTGTACTTAGT
TTGGGAAAAAAAAATAAATTGAAATTGTTATGCTTTTGTATTTCCATTTCTTGCAAATAAATATTTTTTCTTAAATAGTAA

hide sequence


Protein RefSeqs	NP_001240704	(Get FASTA)	NCBI Sequence Viewer
	NP_001305175	(Get FASTA)	NCBI Sequence Viewer
	NP_919047	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH46181	(Get FASTA)	NCBI Sequence Viewer
	AAH63666	(Get FASTA)	NCBI Sequence Viewer
	AAI10814	(Get FASTA)	NCBI Sequence Viewer
	AAI31724	(Get FASTA)	NCBI Sequence Viewer
	BAD18659	(Get FASTA)	NCBI Sequence Viewer
	BAF85737	(Get FASTA)	NCBI Sequence Viewer
	CAD79342	(Get FASTA)	NCBI Sequence Viewer
	CAD79347	(Get FASTA)	NCBI Sequence Viewer
	CAH18360	(Get FASTA)	NCBI Sequence Viewer
	EAL24050	(Get FASTA)	NCBI Sequence Viewer
	EAW83878	(Get FASTA)	NCBI Sequence Viewer
	EAW83879	(Get FASTA)	NCBI Sequence Viewer
	EAW83880	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000329140
	ENSP00000329140.6
	ENSP00000403550.1
	ENSP00000410314
	ENSP00000410314.1
GenBank Protein	Q70SY1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_919047 ⟸ NM_194071
- Peptide Label:	isoform 1
- UniProtKB:	Q6P454 (UniProtKB/Swiss-Prot), Q6ZMR6 (UniProtKB/Swiss-Prot), Q70SY1 (UniProtKB/Swiss-Prot), A8KAI3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSMEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTE PVTDEPPPGLVPSVTLTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEAPVDHLHLPPTPPSSHGSDSEGSLSPNPRLHPFSLPQTHSPSRAAPRAPSALSSSPLLTAPH KLQGSGPLVLTEEEKRTLIAEGYPIPTKLPLSKSEEKALKKIRRKIKNKISAQESRRKKKEYMDSLEKKVESCSTENLELRKKVEVLENTNRTLLQQLQKLQTLVMGKVSRTCKLAGTQTGTCLMVVV LCFAVAFGSFFQGYGPYPSATKMALPSQHSLQEPYTASVVRSRNLLIYEEHSPPEESSSPGSAGELGGWDRGSSLLRVSGLESRPDVDLPHFIISNETSLEKSVLLELQQHLVSAKLEGNETLKVVEL DRRVNTTF hide sequence

RefSeq Acc Id:	NP_001240704 ⟸ NM_001253775
- Peptide Label:	isoform 2
- UniProtKB:	Q86VD4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSM EVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVTLTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSP KEGLSALPVSLWVMDMVSGSTEREYGERAGMSLYHRCCSWLYEIALFLKNKNFASK hide sequence

RefSeq Acc Id:	NP_001305175 ⟸ NM_001318246
- Peptide Label:	isoform 3
- UniProtKB:	A8KAI3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKT EPVTDEPPPGLVPSVTLTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEAPVDHLHLPPTPPSSHGSDSEGSLSPNPRLHPFSLPQTHSPSRAAPRAPSALSSSPLLTAP HKLQGSGPLVLTEEEKRTLIAEGYPIPTKLPLSKSEEKALKKIRRKIKNKISAQESRRKKKEYMDSLEKKVESCSTENLELRKKVEVLENTNRTLLQQLQKLQTLVMGKVSRTCKLAGTQTGTCLMVV VLCFAVAFGSFFQGYGPYPSATKMALPSQHSLQEPYTASVVRSRNLLIYEEHSPPEESSSPGSAGELGGWDRGSSLLRVSGLESRPDVDLPHFIISNETSLEKSVLLELQQHLVSAKLEGNETLKVVE LDRRVNTTF hide sequence

Ensembl Acc Id:

ENSP00000478809 ⟸ ENST00000620715

Ensembl Acc Id:

ENSP00000410314 ⟸ ENST00000452463

Protein Domains

bZIP

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q70SY1-F1-model_v2	AlphaFold	Q70SY1	1-520	view protein structure

RGD ID:

6805410

Promoter ID:

HG_KWN:59872

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000341467

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	137,263,546 - 137,264,046 (-)	MPROMDB

RGD ID:

6805409

Promoter ID:

HG_KWN:59873

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC003VTV.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	137,268,386 - 137,269,017 (-)	MPROMDB

RGD ID:

6805407

Promoter ID:

HG_KWN:59874

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000341466

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	137,269,769 - 137,270,269 (-)	MPROMDB

RGD ID:

6813164

Promoter ID:

HG_ACW:74572

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid, NB4

Transcripts:

CREB3L2.CAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	137,271,076 - 137,271,576 (-)	MPROMDB

RGD ID:

6805579

Promoter ID:

HG_KWN:59876

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000378408, NM_194071, OTTHUMT00000341465, OTTHUMT00000341641, UC003VTX.1, UC003VTY.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	137,336,821 - 137,337,427 (-)	MPROMDB

RGD ID:

7212019

Promoter ID:

EPDNEW_H11754

Type:

initiation region

Name:

CREB3L2_1

Description:

cAMP responsive element binding protein 3 like 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	138,002,060 - 138,002,120	EPDNEW

Database	Acc Id	Source(s)
COSMIC	CREB3L2	COSMIC
Ensembl Genes	ENSG00000182158	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000330387	ENTREZGENE
	ENST00000330387.11	UniProtKB/Swiss-Prot
	ENST00000452463	ENTREZGENE
	ENST00000452463.5	UniProtKB/Swiss-Prot
	ENST00000456390.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.5.170	UniProtKB/Swiss-Prot
GTEx	ENSG00000182158	GTEx
HGNC ID	HGNC:23720	ENTREZGENE
Human Proteome Map	CREB3L2	Human Proteome Map
InterPro	bZIP	UniProtKB/Swiss-Prot
	bZIP_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:64764	UniProtKB/Swiss-Prot
NCBI Gene	64764	ENTREZGENE
OMIM	608834	OMIM
PANTHER	CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN A	UniProtKB/Swiss-Prot
	PTHR46004:SF2	UniProtKB/Swiss-Prot
Pfam	bZIP_1	UniProtKB/Swiss-Prot
PharmGKB	PA134914841	PharmGKB
PROSITE	BZIP	UniProtKB/Swiss-Prot
	BZIP_BASIC	UniProtKB/Swiss-Prot
SMART	BRLZ	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF57959	UniProtKB/Swiss-Prot
UniProt	A2RRN1_HUMAN	UniProtKB/TrEMBL
	A8KAI3	ENTREZGENE, UniProtKB/TrEMBL
	C9JPH0_HUMAN	UniProtKB/TrEMBL
	CR3L2_HUMAN	UniProtKB/Swiss-Prot
	H7C1W8_HUMAN	UniProtKB/TrEMBL
	Q68D60_HUMAN	UniProtKB/TrEMBL
	Q6P454	ENTREZGENE
	Q6ZMR6	ENTREZGENE
	Q70SY1	ENTREZGENE
	Q86VD4	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	Q6P454	UniProtKB/Swiss-Prot
	Q6ZMR6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-07	CREB3L2	cAMP responsive element binding protein 3 like 2		cAMP responsive element binding protein 3-like 2	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar