Advanced Search (OLGA)

Gene: TSPAN9 (tetraspanin 9) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

TSPAN9

Name:

tetraspanin 9

RGD ID:

1602896

HGNC Page

HGNC:21640

Description:

Predicted to act upstream of or within several processes, including collagen-activated tyrosine kinase receptor signaling pathway; mitocytosis; and platelet aggregation. Located in tetraspanin-enriched microdomain.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

NET-5; NET5; new EST tetraspan 5; PP1057; tetraspan NET-5; tetraspanin-9; transmembrane 4 superfamily member tetraspan NET-5; tspan-9

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tspan9 (tetraspanin 9)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tspan9 (tetraspanin 9)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Tspan9 (tetraspanin 9)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TSPAN9 (tetraspanin 9)	NCBI	Ortholog
Canis lupus familiaris (dog):	TSPAN9 (tetraspanin 9)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tspan9 (tetraspanin 9)	NCBI	Ortholog
Sus scrofa (pig):	TSPAN9 (tetraspanin 9)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	LOC103218397 (tetraspanin-9)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tspan9 (tetraspanin 9)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tspan9 (tetraspanin 9)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tspan9 (tetraspanin 9)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tspan9a (tetraspanin 9a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	tspan9b (tetraspanin 9b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	tsp-6	Alliance	DIOPT (Ensembl Compara\|OMA\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Tsp5D	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tspan9.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tspan9.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tspan9	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	12	3,077,379 - 3,286,559 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	3,077,355 - 3,286,564 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	3,186,545 - 3,395,725 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	3,056,818 - 3,265,991 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	4,800,573 - 5,009,494 (+)	NCBI		Celera
Cytogenetic Map	12	p13.33-p13.32	NCBI
HuRef	12	3,043,244 - 3,251,902 (+)	NCBI		HuRef
CHM1_1	12	3,185,640 - 3,394,816 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSPAN9	Human	Hyperphosphatemic Familial Tumoral Calcinosis 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Tumoral calcinosis more ...	ClinVar	PMID:25378588 and PMID:29389098

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSPAN9	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Tspan9 (Rattus norvegicus)	6480464	[APC protein affects the susceptibility to 1 and 2-Dimethylhydrazine] which results in decreased expression of TSPAN9 mRNA	CTD	PMID:27840820
TSPAN9	Human	1,3,5-trinitro-1,3,5-triazinane	decreases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	cyclonite results in decreased expression of TSPAN9 mRNA	CTD	PMID:25559034
TSPAN9	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of TSPAN9 mRNA	CTD	PMID:31614463 more ...
TSPAN9	Human	17beta-estradiol	increases expression	ISO	Tspan9 (Mus musculus)	6480464	Estradiol results in increased expression of TSPAN9 mRNA	CTD	PMID:39298647
TSPAN9	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of TSPAN9 mRNA	CTD	PMID:22298810 and PMID:34747641
TSPAN9	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of TSPAN9 mRNA	CTD	PMID:26290441
TSPAN9	Human	2,4,6-tribromophenol	increases expression	EXP		6480464	2 more ...	CTD	PMID:31675489
TSPAN9	Human	2-bromohexadecanoic acid	multiple interactions	EXP		6480464	2-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of TSPAN9 protein]	CTD	PMID:38195004
TSPAN9	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	bisphenol S results in decreased expression of TSPAN9 mRNA	CTD	PMID:39298647
TSPAN9	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of TSPAN9 gene	CTD	PMID:31601247
TSPAN9	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Tspan9 (Mus musculus)	6480464	Fenretinide results in increased expression of TSPAN9 mRNA	CTD	PMID:28973697
TSPAN9	Human	6-propyl-2-thiouracil	decreases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of TSPAN9 mRNA	CTD	PMID:24780913
TSPAN9	Human	6-propyl-2-thiouracil	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of TSPAN9 mRNA	CTD	PMID:30047161
TSPAN9	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of TSPAN9 3' UTR and Aflatoxin B1 results in decreased methylation of TSPAN9 intron	CTD	PMID:30157460
TSPAN9	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of TSPAN9 intron	CTD	PMID:30157460
TSPAN9	Human	amitrole	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Amitrole results in increased expression of TSPAN9 mRNA	CTD	PMID:30047161
TSPAN9	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of TSPAN9 mRNA	CTD	PMID:24449571
TSPAN9	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of TSPAN9 protein	CTD	PMID:33212167
TSPAN9	Human	benzo[a]pyrene	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of TSPAN9 mRNA	CTD	PMID:19770486
TSPAN9	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of TSPAN9 3' UTR and Benzo(a)pyrene affects the methylation of TSPAN9 5' UTR	CTD	PMID:27901495 and PMID:30157460
TSPAN9	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of TSPAN9 3' UTR	CTD	PMID:27901495
TSPAN9	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of TSPAN9 mRNA	CTD	PMID:22316170 and PMID:32234424
TSPAN9	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of TSPAN9 intron	CTD	PMID:30157460
TSPAN9	Human	benzo[e]pyrene	affects methylation	EXP		6480464	benzo(e)pyrene affects the methylation of TSPAN9 3' UTR	CTD	PMID:30157460
TSPAN9	Human	beta-naphthoflavone	decreases expression	EXP		6480464	beta-Naphthoflavone results in decreased expression of TSPAN9 mRNA	CTD	PMID:32858204
TSPAN9	Human	bisphenol A	decreases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TSPAN9 mRNA	CTD	PMID:25181051 more ...
TSPAN9	Human	bisphenol A	increases expression	ISO	Tspan9 (Mus musculus)	6480464	bisphenol A results in increased expression of TSPAN9 mRNA	CTD	PMID:32156529
TSPAN9	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of TSPAN9 gene	CTD	PMID:31601247
TSPAN9	Human	bisphenol A	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of TSPAN9 mRNA	CTD	PMID:34947998
TSPAN9	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A analog results in decreased expression of TSPAN9 mRNA	CTD	PMID:32387340
TSPAN9	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of TSPAN9 mRNA	CTD	PMID:32387340
TSPAN9	Human	cadmium atom	multiple interactions	EXP		6480464	2-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of TSPAN9 protein] and [Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of TSPAN9 protein	CTD	PMID:38195004
TSPAN9	Human	cadmium dichloride	multiple interactions	EXP		6480464	2-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of TSPAN9 protein] and [Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of TSPAN9 protein	CTD	PMID:38195004
TSPAN9	Human	carbon nanotube	increases expression	ISO	Tspan9 (Mus musculus)	6480464	Nanotubes and Carbon results in increased expression of TSPAN9 mRNA	CTD	PMID:25554681
TSPAN9	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to TSPAN9 gene]	CTD	PMID:28238834
TSPAN9	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of TSPAN9 mRNA	CTD	PMID:19561079
TSPAN9	Human	clofibrate	multiple interactions	ISO	Tspan9 (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of TSPAN9 mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TSPAN9 mRNA]	CTD	PMID:17585979
TSPAN9	Human	clofibrate	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	Clofibrate results in decreased expression of TSPAN9 mRNA	CTD	PMID:17585979 and PMID:23811191
TSPAN9	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of TSPAN9 mRNA	CTD	PMID:25562108
TSPAN9	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of TSPAN9 mRNA	CTD	PMID:37042841
TSPAN9	Human	dibutyl phthalate	decreases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Dibutyl Phthalate results in decreased expression of TSPAN9 mRNA	CTD	PMID:21266533
TSPAN9	Human	epoxiconazole	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	epoxiconazole results in decreased expression of TSPAN9 mRNA	CTD	PMID:35436446
TSPAN9	Human	ethanol	affects expression	ISO	Tspan9 (Mus musculus)	6480464	Ethanol affects the expression of TSPAN9 mRNA	CTD	PMID:30319688
TSPAN9	Human	ethanol	affects splicing	ISO	Tspan9 (Mus musculus)	6480464	Ethanol affects the splicing of TSPAN9 mRNA	CTD	PMID:30319688
TSPAN9	Human	ethanol	increases expression	ISO	Tspan9 (Mus musculus)	6480464	Ethanol results in increased expression of TSPAN9 mRNA	CTD	PMID:30319688
TSPAN9	Human	gallic acid	decreases expression	EXP		6480464	Gallic Acid results in decreased expression of TSPAN9 mRNA	CTD	PMID:34408198
TSPAN9	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 TSPAN9 mRNA	CTD	PMID:29432896
TSPAN9	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine co-treated with Lipopolysaccharides] results in decreased expression of TSPAN9 mRNA	CTD	PMID:35811015
TSPAN9	Human	methapyrilene	affects methylation	EXP		6480464	Methapyrilene affects the methylation of TSPAN9 3' UTR	CTD	PMID:30157460
TSPAN9	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of TSPAN9 intron	CTD	PMID:30157460
TSPAN9	Human	methimazole	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Methimazole results in increased expression of TSPAN9 mRNA	CTD	PMID:30047161
TSPAN9	Human	methoxychlor	affects methylation	ISO	Tspan9 (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of TSPAN9 gene	CTD	PMID:35440735
TSPAN9	Human	nitrates	multiple interactions	ISO	Tspan9 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of TSPAN9 mRNA	CTD	PMID:35964746
TSPAN9	Human	paracetamol	affects expression	ISO	Tspan9 (Mus musculus)	6480464	Acetaminophen affects the expression of TSPAN9 mRNA	CTD	PMID:17562736
TSPAN9	Human	paracetamol	multiple interactions	ISO	Tspan9 (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of TSPAN9 mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TSPAN9 mRNA]	CTD	PMID:17585979
TSPAN9	Human	perfluorohexanesulfonic acid	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	perfluorohexanesulfonic acid results in decreased expression of TSPAN9 mRNA	CTD	PMID:37995155
TSPAN9	Human	perfluorooctanoic acid	decreases expression	EXP		6480464	perfluorooctanoic acid results in decreased expression of TSPAN9 protein	CTD	PMID:26879310
TSPAN9	Human	phenobarbital	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Phenobarbital results in increased expression of TSPAN9 mRNA	CTD	PMID:30047161
TSPAN9	Human	pirinixic acid	multiple interactions	EXP		6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of TSPAN9 mRNA	CTD	PMID:19710929
TSPAN9	Human	pirinixic acid	decreases expression	ISO	Tspan9 (Mus musculus)	6480464	pirinixic acid results in decreased expression of TSPAN9 mRNA	CTD	PMID:23811191
TSPAN9	Human	potassium chromate	increases expression	EXP		6480464	potassium chromate(VI) results in increased expression of TSPAN9 mRNA	CTD	PMID:22714537
TSPAN9	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine co-treated with Lipopolysaccharides] results in decreased expression of TSPAN9 mRNA	CTD	PMID:35811015
TSPAN9	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide analog results in decreased expression of TSPAN9 mRNA	CTD	PMID:25895662
TSPAN9	Human	silicon dioxide	decreases methylation	EXP		6480464	Silicon Dioxide results in decreased methylation of TSPAN9 gene	CTD	PMID:34973136
TSPAN9	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of TSPAN9 mRNA	CTD	PMID:38568856
TSPAN9	Human	sulfadimethoxine	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	Sulfadimethoxine results in increased expression of TSPAN9 mRNA	CTD	PMID:30047161
TSPAN9	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of TSPAN9 mRNA	CTD	PMID:31533062
TSPAN9	Human	tert-butyl hydroperoxide	increases expression	ISO	Tspan9 (Mus musculus)	6480464	tert-Butylhydroperoxide results in increased expression of TSPAN9 mRNA	CTD	PMID:15003993
TSPAN9	Human	titanium dioxide	affects expression	ISO	Tspan9 (Mus musculus)	6480464	titanium dioxide affects the expression of TSPAN9 mRNA	CTD	PMID:17656681
TSPAN9	Human	titanium dioxide	decreases methylation	ISO	Tspan9 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of TSPAN9 gene	CTD	PMID:35295148
TSPAN9	Human	triadimefon	increases expression	ISO	Tspan9 (Rattus norvegicus)	6480464	triadimefon results in increased expression of TSPAN9 mRNA	CTD	PMID:30047161
TSPAN9	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of TSPAN9 mRNA	CTD	PMID:37042841
TSPAN9	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of TSPAN9 gene	CTD	PMID:29154799
TSPAN9	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of TSPAN9 mRNA	CTD	PMID:23179753

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)
TSPAN9	Human	collagen-activated tyrosine kinase receptor signaling pathway	acts_upstream_of_or_within	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	mitocytosis	acts_upstream_of_or_within	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	neutrophil homeostasis	acts_upstream_of_or_within	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	platelet aggregation	acts_upstream_of_or_within	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	positive regulation of peptidyl-tyrosine phosphorylation	acts_upstream_of_or_within	ISO	MGI:4027164	9068941	PMID:28032533	MGI	PMID:28032533
TSPAN9	Human	receptor diffusion trapping	acts_upstream_of_or_within	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	regulation of mitochondrial membrane potential	acts_upstream_of_or_within	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107

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)
TSPAN9	Human	focal adhesion	located_in	HDA		150520179	PMID:21423176	UniProt	PMID:21423176
TSPAN9	Human	membrane	located_in	IEA	InterPro:IPR000301 more ...	150520179		InterPro	GO_REF:0000002
TSPAN9	Human	membrane	located_in	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
TSPAN9	Human	membrane	located_in	IEA	UniRule:UR000049408	150520179		UniProt	GO_REF:0000104
TSPAN9	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
TSPAN9	Human	migrasome	located_in	IEA	UniProtKB:Q8BJU2 and ensembl:ENSMUSP00000107796	150520179		Ensembl	GO_REF:0000107
TSPAN9	Human	plasma membrane	is_active_in	IBA	FB:FBgn0024361 more ...	150520179		GO_Central	GO_REF:0000033
TSPAN9	Human	plasma membrane	located_in	IDA		150520179	PMID:18795891	UniProt	PMID:18795891
TSPAN9	Human	tetraspanin-enriched microdomain	located_in	IDA		150520179	PMID:18795891	UniProt	PMID:18795891

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8125298	PMID:10719184	PMID:11739647	PMID:12477932	PMID:15489334	PMID:17192395	PMID:18795891	PMID:18799160	PMID:19204726	PMID:19322201	PMID:19851296	PMID:20198315
PMID:21423176	PMID:21873635	PMID:23746317	PMID:24529757	PMID:26760575	PMID:26865714	PMID:27177197	PMID:28611215	PMID:28986522	PMID:29180619	PMID:31242895	PMID:33961781
PMID:36215168

TSPAN9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	3,077,355 - 3,286,564 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	3,186,545 - 3,395,725 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	3,056,818 - 3,265,991 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	4,800,573 - 5,009,494 (+)	NCBI		Celera
Cytogenetic Map	12	p13.33-p13.32	NCBI
HuRef	12	3,043,244 - 3,251,902 (+)	NCBI		HuRef
CHM1_1	12	3,185,640 - 3,394,816 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI		T2T-CHM13v2.0

Tspan9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	127,938,359 - 128,120,541 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	127,938,359 - 128,120,557 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	127,961,396 - 128,143,578 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	127,961,396 - 128,143,594 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	127,911,418 - 128,093,596 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	127,927,019 - 128,109,197 (-)	NCBI		MGSCv36	mm8
Celera	6	129,634,256 - 129,815,522 (-)	NCBI		Celera
Cytogenetic Map	6	F3	NCBI
cM Map	6	62.73	NCBI

Tspan9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	162,500,029 - 162,681,699 (-)	NCBI		GRCr8
mRatBN7.2	4	160,813,879 - 160,995,574 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	160,813,879 - 160,995,501 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	167,043,850 - 167,118,214 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	162,826,769 - 162,901,133 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	161,460,829 - 161,535,196 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	160,530,726 - 160,725,056 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	160,530,720 - 160,662,974 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	230,893,933 - 231,085,237 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	164,416,321 - 164,490,755 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	164,662,142 - 164,735,595 (-)	NCBI
Celera	4	149,521,883 - 149,596,105 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Tspan9
(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	NW_004955429	18,696,528 - 18,772,593 (+)	NCBI	ChiLan1.0	ChiLan1.0

TSPAN9
(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	10	8,608,855 - 8,840,601 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	8,607,257 - 8,837,357 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	3,190,897 - 3,410,042 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	3,135,211 - 3,334,244 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

TSPAN9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	41,526,757 - 41,684,909 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	41,529,151 - 41,611,686 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	4,956,399 - 5,155,923 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	41,884,395 - 42,084,481 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	41,884,402 - 42,084,443 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	41,821,703 - 42,021,388 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	41,796,674 - 41,996,298 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	4,316,539 - 4,516,244 (+)	NCBI		UU_Cfam_GSD_1.0

Tspan9
(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_024404945	105,594,518 - 105,785,420 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936606	3,506,357 - 3,586,849 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936606	3,398,745 - 3,589,647 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TSPAN9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	66,913,769 - 67,106,233 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	66,913,750 - 67,106,303 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	69,219,141 - 69,394,409 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103218397
(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	11	3,138,764 - 3,347,796 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	3,145,015 - 3,347,849 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	4,948,875 - 5,159,692 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tspan9
(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_004624860	493,668 - 575,138 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624860	392,163 - 575,138 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TSPAN9
62 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	copy number loss	See cases [RCV000050637]	Chr12:121255..3968447 [GRCh38] Chr12:282465..4077613 [GRCh37] Chr12:100682..3947874 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	copy number loss	See cases [RCV000052777]	Chr12:2492728..4829842 [GRCh38] Chr12:2601894..4939008 [GRCh37] Chr12:2472155..4809269 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3	copy number gain	See cases [RCV000053663]	Chr12:121055..7272606 [GRCh38] Chr12:282465..7425202 [GRCh37] Chr12:100482..7316469 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|See cases [RCV000053664]	Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	copy number gain	See cases [RCV000053665]	Chr12:199896..3284963 [GRCh38] Chr12:309062..3394129 [GRCh37] Chr12:179323..3264390 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]\|See cases [RCV000053669]	Chr12:1764264..4231744 [GRCh38] Chr12:1873430..4340910 [GRCh37] Chr12:1743691..4211171 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	copy number gain	See cases [RCV000135350]	Chr12:45740..6945196 [GRCh38] Chr12:147099..7054359 [GRCh37] Chr12:17360..6924620 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	copy number loss	See cases [RCV000136848]	Chr12:199896..5807366 [GRCh38] Chr12:309062..5916532 [GRCh37] Chr12:179323..5786793 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	copy number gain	See cases [RCV000137694]	Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	copy number loss	See cases [RCV000138558]	Chr12:80412..4420585 [GRCh38] Chr12:282465..4529751 [GRCh37] Chr12:59839..4400012 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	copy number loss	See cases [RCV000141250]	Chr12:54427..3639603 [GRCh38] Chr12:282465..3748769 [GRCh37] Chr12:33854..3619030 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	copy number loss	See cases [RCV000140991]	Chr12:54427..4004912 [GRCh38] Chr12:282465..4114078 [GRCh37] Chr12:33854..3984339 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3	copy number gain	See cases [RCV000141599]	Chr12:2619985..3489688 [GRCh38] Chr12:2729151..3598854 [GRCh37] Chr12:2599412..3469115 [NCBI36] Chr12:12p13.33-13.32	uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3	copy number gain	See cases [RCV000141614]	Chr12:2188620..3361190 [GRCh38] Chr12:2297786..3470356 [GRCh37] Chr12:2168047..3340617 [NCBI36] Chr12:12p13.33-13.32	uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	copy number gain	See cases [RCV000143357]	Chr12:418421..6235914 [GRCh38] Chr12:527587..6345080 [GRCh37] Chr12:397848..6215341 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	copy number loss	See cases [RCV000239873]	Chr12:222888..3931052 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1	copy number loss	See cases [RCV000447106]	Chr12:173786..6378954 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1	copy number loss	See cases [RCV000446628]	Chr12:173786..5737510 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3	copy number gain	See cases [RCV000446749]	Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3233294-3847662)x3	copy number gain	See cases [RCV000447873]	Chr12:3233294..3847662 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3	copy number gain	See cases [RCV000511901]	Chr12:2245848..3614555 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	copy number loss	See cases [RCV000511740]	Chr12:3256714..4980727 [GRCh37] Chr12:12p13.33-13.32	likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	copy number gain	See cases [RCV000510853]	Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
NM_006675.5(TSPAN9):c.60C>G (p.Phe20Leu)	single nucleotide variant	not specified [RCV004304986]	Chr12:3201253 [GRCh38] Chr12:3310419 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582)	copy number loss	Global developmental delay [RCV000626500]	Chr12:3288857..4004582 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3206887-3735847)x3	copy number gain	not provided [RCV000683441]	Chr12:3206887..3735847 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33(chr12:2989329-3299002)x3	copy number gain	not provided [RCV000683420]	Chr12:2989329..3299002 [GRCh37] Chr12:12p13.33	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	copy number loss	not provided [RCV000683471]	Chr12:173786..4105910 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	copy number gain	not provided [RCV000683477]	Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	copy number loss	not provided [RCV000683475]	Chr12:173786..6039841 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	copy number loss	not provided [RCV000683474]	Chr12:173786..5952112 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	copy number loss	not provided [RCV000683476]	Chr12:173786..6201932 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.32(chr12:3374920-3403999)x3	copy number gain	not provided [RCV000737742]	Chr12:3374920..3403999 [GRCh37] Chr12:12p13.32	benign
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
NM_006675.5(TSPAN9):c.165C>A (p.Asn55Lys)	single nucleotide variant	not specified [RCV004315058]	Chr12:3278522 [GRCh38] Chr12:3387688 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	copy number gain	not provided [RCV000767818]	Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	copy number gain	not provided [RCV000767819]	Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del	deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697]	Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31	pathogenic\|not provided
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	copy number gain	not provided [RCV000846343]	Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3112502-3318440)x3	copy number gain	not provided [RCV001006478]	Chr12:3112502..3318440 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	copy number loss	not provided [RCV001259134]	Chr12:191242..4683495 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	copy number gain	not provided [RCV001537906]	Chr12:189145..7730395 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	copy number gain	Obesity [RCV001801197]	Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	copy number loss	not specified [RCV002052963]	Chr12:2790077..5325700 [GRCh37] Chr12:12p13.33-13.32	pathogenic
NM_006675.5(TSPAN9):c.245T>G (p.Leu82Arg)	single nucleotide variant	not specified [RCV004322075]	Chr12:3278602 [GRCh38] Chr12:3387768 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	copy number gain	not provided [RCV002472514]	Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3282099-3845523)x3	copy number gain	not provided [RCV002472691]	Chr12:3282099..3845523 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
NM_006675.5(TSPAN9):c.617G>T (p.Gly206Val)	single nucleotide variant	not specified [RCV004116104]	Chr12:3281786 [GRCh38] Chr12:3390952 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.166C>A (p.Leu56Met)	single nucleotide variant	not specified [RCV004218655]	Chr12:3278523 [GRCh38] Chr12:3387689 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.94A>G (p.Ile32Val)	single nucleotide variant	not specified [RCV004091058]	Chr12:3278451 [GRCh38] Chr12:3387617 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.641T>C (p.Ile214Thr)	single nucleotide variant	not specified [RCV004216439]	Chr12:3281810 [GRCh38] Chr12:3390976 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_006675.5(TSPAN9):c.661G>A (p.Ala221Thr)	single nucleotide variant	not specified [RCV004252198]	Chr12:3283057 [GRCh38] Chr12:3392223 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.437G>A (p.Arg146Gln)	single nucleotide variant	not specified [RCV004249816]	Chr12:3281202 [GRCh38] Chr12:3390368 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	copy number loss	not provided [RCV003483146]	Chr12:191243..5332596 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	copy number loss	not specified [RCV003986988]	Chr12:2246103..5406692 [GRCh37] Chr12:12p13.33-13.31	likely pathogenic
NM_006675.5(TSPAN9):c.343G>A (p.Ala115Thr)	single nucleotide variant	not specified [RCV004680470]	Chr12:3280394 [GRCh38] Chr12:3389560 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:2235941-3602821)x1	copy number loss	not provided [RCV004819843]	Chr12:2235941..3602821 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	copy number gain	not provided [RCV004819308]	Chr12:173787..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_006675.5(TSPAN9):c.620C>T (p.Thr207Met)	single nucleotide variant	not specified [RCV004875861]	Chr12:3281789 [GRCh38] Chr12:3390955 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.473C>T (p.Pro158Leu)	single nucleotide variant	not specified [RCV004680474]	Chr12:3281238 [GRCh38] Chr12:3390404 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	copy number loss	not provided [RCV000847821]	Chr12:173786..6346092 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3282098-3845523)x3	copy number gain	not provided [RCV001259135]	Chr12:3282098..3845523 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
NM_006675.5(TSPAN9):c.164A>C (p.Asn55Thr)	single nucleotide variant	not specified [RCV004310298]	Chr12:3278521 [GRCh38] Chr12:3387687 [GRCh37] Chr12:12p13.32	uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:3112503-3318440)x3	copy number gain	not provided [RCV002475553]	Chr12:3112503..3318440 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_006675.5(TSPAN9):c.179T>C (p.Ile60Thr)	single nucleotide variant	not specified [RCV004476670]	Chr12:3278536 [GRCh38] Chr12:3387702 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.22T>C (p.Cys8Arg)	single nucleotide variant	not specified [RCV004476671]	Chr12:3201215 [GRCh38] Chr12:3310381 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.260T>G (p.Phe87Cys)	single nucleotide variant	not specified [RCV004476672]	Chr12:3278996 [GRCh38] Chr12:3388162 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.541G>A (p.Ala181Thr)	single nucleotide variant	not specified [RCV004476673]	Chr12:3281306 [GRCh38] Chr12:3390472 [GRCh37] Chr12:12p13.32	likely benign
NM_006675.5(TSPAN9):c.630G>A (p.Met210Ile)	single nucleotide variant	not specified [RCV004476674]	Chr12:3281799 [GRCh38] Chr12:3390965 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.175G>A (p.Ala59Thr)	single nucleotide variant	not specified [RCV004476669]	Chr12:3278532 [GRCh38] Chr12:3387698 [GRCh37] Chr12:12p13.32	uncertain significance
NM_006675.5(TSPAN9):c.274G>A (p.Val92Ile)	single nucleotide variant	not specified [RCV004680471]	Chr12:3279010 [GRCh38] Chr12:3388176 [GRCh37] Chr12:12p13.32	likely benign
NM_006675.5(TSPAN9):c.503G>A (p.Arg168His)	single nucleotide variant	not specified [RCV004680473]	Chr12:3281268 [GRCh38] Chr12:3390434 [GRCh37] Chr12:12p13.32	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	5682
Count of miRNA genes:	1188
Interacting mature miRNAs:	1512
Transcripts:	ENST00000011898, ENST00000407263, ENST00000431374, ENST00000444315, ENST00000492305, ENST00000537971, ENST00000539631
Prediction methods:	Miranda, Rnahybrid
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
597059350	GWAS1155424_H	vital capacity QTL GWAS1155424 (human)		6e-12	vital capacity		12	3232344	3232345	Human
596975509	GWAS1095028_H	body height QTL GWAS1095028 (human)		7e-15	body height		12	3283934	3283935	Human
407080258	GWAS729234_H	unipolar depression, neuroticism measurement QTL GWAS729234 (human)		0.000008	unipolar depression, neuroticism measurement		12	3243377	3243378	Human
597059349	GWAS1155423_H	vital capacity QTL GWAS1155423 (human)		5e-09	vital capacity		12	3103092	3103093	Human
407112527	GWAS761503_H	waist-hip ratio QTL GWAS761503 (human)		5e-08	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	12	3279766	3279767	Human
597102104	GWAS1198178_H	erythrocyte count QTL GWAS1198178 (human)		3e-09	erythrocyte count	red blood cell count (CMO:0000025)	12	3122550	3122551	Human
597081881	GWAS1177955_H	neutrophil count QTL GWAS1177955 (human)		7e-14	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	12	3278531	3278532	Human
597292297	GWAS1388371_H	size QTL GWAS1388371 (human)		4e-14	size		12	3283934	3283935	Human
597052034	GWAS1148108_H	erythrocyte count QTL GWAS1148108 (human)		3e-10	erythrocyte count	red blood cell count (CMO:0000025)	12	3122550	3122551	Human
406944727	GWAS593703_H	hematocrit QTL GWAS593703 (human)		9e-10	hematocrit	hematocrit (CMO:0000037)	12	3122586	3122587	Human
597051648	GWAS1147722_H	hematocrit QTL GWAS1147722 (human)		8e-11	hematocrit	hematocrit (CMO:0000037)	12	3128976	3128977	Human
597327234	GWAS1423308_H	vital capacity QTL GWAS1423308 (human)		3e-10	vital capacity		12	3209092	3209093	Human
597196418	GWAS1292492_H	memory performance QTL GWAS1292492 (human)		0.000007	memory performance		12	3171080	3171081	Human
597196419	GWAS1292493_H	memory performance QTL GWAS1292493 (human)		0.000007	memory performance		12	3179143	3179144	Human
597181571	GWAS1277645_H	educational attainment QTL GWAS1277645 (human)		0.000007	educational attainment		12	3199130	3199131	Human
596960143	GWAS1079662_H	glomerular filtration rate QTL GWAS1079662 (human)		1e-18	glomerular filtration rate		12	3265509	3265510	Human
597269380	GWAS1365454_H	BMI-adjusted waist circumference QTL GWAS1365454 (human)		1e-08	body size trait (VT:0100005)		12	3279766	3279767	Human
596952330	GWAS1071849_H	size QTL GWAS1071849 (human)		4e-14	size		12	3283934	3283935	Human
597619134	GWAS1675994_H	body weight QTL GWAS1675994 (human)		1e-12	body mass (VT:0001259)	body weight (CMO:0000012)	12	3244396	3244397	Human
597316411	GWAS1412485_H	white matter lesion progression measurement QTL GWAS1412485 (human)		0.00001	central nervous system integrity trait (VT:0010772)		12	3236451	3236452	Human
597327547	GWAS1423621_H	vital capacity QTL GWAS1423621 (human)		7e-10	vital capacity		12	3281031	3281032	Human
597146293	GWAS1242367_H	smoking initiation QTL GWAS1242367 (human)		4e-12	smoking initiation		12	3256260	3256261	Human
597098932	GWAS1195006_H	diverticular disease QTL GWAS1195006 (human)		0.000001	diverticular disease		12	3109418	3109419	Human
597264695	GWAS1360769_H	cup-to-disc ratio measurement QTL GWAS1360769 (human)		4e-09	cup-to-disc ratio measurement		12	3255474	3255493	Human
597029156	GWAS1125230_H	BMI-adjusted waist-hip ratio QTL GWAS1125230 (human)		8e-08	body size trait (VT:0100005)		12	3278115	3278116	Human
597114917	GWAS1210991_H	DNA methylation QTL GWAS1210991 (human)		1e-09	DNA methylation		12	3088513	3088514	Human
597221418	GWAS1317492_H	BMI-adjusted waist-hip ratio QTL GWAS1317492 (human)		2e-11	body size trait (VT:0100005)		12	3255529	3255530	Human
597348014	GWAS1444088_H	lean body mass QTL GWAS1444088 (human)		3e-10	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	12	3182980	3182981	Human
597185199	GWAS1281273_H	forced expiratory volume QTL GWAS1281273 (human)		3e-11	forced expiratory volume	forced expiratory volume (CMO:0000254)	12	3269973	3269974	Human
596980397	GWAS1099916_H	memory performance QTL GWAS1099916 (human)		0.000007	memory performance		12	3179143	3179144	Human
597105071	GWAS1201145_H	aspartate aminotransferase measurement QTL GWAS1201145 (human)		4e-08	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	12	3231491	3231492	Human
596980396	GWAS1099915_H	memory performance QTL GWAS1099915 (human)		0.000007	memory performance		12	3171080	3171081	Human
597349795	GWAS1445869_H	myocardial infarction QTL GWAS1445869 (human)		0.000006	myocardial infarction		12	3266466	3266467	Human
407061502	GWAS710478_H	heel bone mineral density QTL GWAS710478 (human)		1e-14	heel bone mineral density	bone mineral density (CMO:0001226)	12	3098592	3098593	Human
597035048	GWAS1131122_H	heel bone mineral density QTL GWAS1131122 (human)		6e-16	heel bone mineral density	bone mineral density (CMO:0001226)	12	3100328	3100329	Human
407049212	GWAS698188_H	temporomandibular joint disorder QTL GWAS698188 (human)		0.000008	temporomandibular joint disorder		12	3178113	3178114	Human
597074089	GWAS1170163_H	coronary artery disease QTL GWAS1170163 (human)		0.000001	coronary artery disease		12	3262065	3262066	Human
597102248	GWAS1198322_H	neutrophil count QTL GWAS1198322 (human)		8e-12	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	12	3283185	3283186	Human
597617628	GWAS1674488_H	body weight QTL GWAS1674488 (human)		9e-13	body mass (VT:0001259)	body weight (CMO:0000012)	12	3244396	3244397	Human
597175515	GWAS1271589_H	vital capacity QTL GWAS1271589 (human)		2e-12	vital capacity		12	3242003	3242004	Human
597168720	GWAS1264794_H	aspartate aminotransferase measurement QTL GWAS1264794 (human)		7e-10	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	12	3230643	3230644	Human
597145693	GWAS1241767_H	posterior thigh muscle fat infiltration measurement QTL GWAS1241767 (human)		2e-10	posterior thigh muscle fat infiltration measurement		12	3280755	3280756	Human
407179150	GWAS828126_H	response to mepolizumab, Glucocorticoid use measurement QTL GWAS828126 (human)		0.000009	response to xenobiotic stimulus trait (VT:0010487)		12	3248826	3248827	Human
407078540	GWAS727516_H	BMI-adjusted waist-hip ratio QTL GWAS727516 (human)		4e-09	body size trait (VT:0100005)		12	3278838	3278839	Human
597109188	GWAS1205262_H	platelet component distribution width QTL GWAS1205262 (human)		2e-09	platelet size trait (VT:0010457)	platelet distribution width (CMO:0001350)	12	3279547	3279548	Human
597109187	GWAS1205261_H	platelet component distribution width QTL GWAS1205261 (human)		1e-21	platelet size trait (VT:0010457)	platelet distribution width (CMO:0001350)	12	3279356	3279357	Human
597109186	GWAS1205260_H	platelet component distribution width QTL GWAS1205260 (human)		5e-10	platelet size trait (VT:0010457)	platelet distribution width (CMO:0001350)	12	3136560	3136561	Human
597109185	GWAS1205259_H	platelet component distribution width QTL GWAS1205259 (human)		4e-46	platelet size trait (VT:0010457)	platelet distribution width (CMO:0001350)	12	3130001	3130002	Human
596959437	GWAS1078956_H	glomerular filtration rate QTL GWAS1078956 (human)		2e-34	glomerular filtration rate		12	3265509	3265510	Human
407079448	GWAS728424_H	waist-hip ratio QTL GWAS728424 (human)		5e-08	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	12	3278838	3278839	Human
596974026	GWAS1093545_H	neuroticism measurement, major depressive disorder QTL GWAS1093545 (human)		0.000008	neuroticism measurement, major depressive disorder		12	3243377	3243378	Human
597621116	GWAS1677976_H	body weight QTL GWAS1677976 (human)		2e-11	body mass (VT:0001259)	body weight (CMO:0000012)	12	3244396	3244397	Human
596975730	GWAS1095249_H	body height QTL GWAS1095249 (human)		2e-15	body height		12	3229754	3229755	Human
407071396	GWAS720372_H	urinary albumin to creatinine ratio QTL GWAS720372 (human)		2e-08	urine albumin amount (VT:0002871)	urine albumin level to urine creatinine level ratio (CMO:0000384)	12	3258927	3258928	Human
597081470	GWAS1177544_H	neutrophil count QTL GWAS1177544 (human)		2e-13	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	12	3278531	3278532	Human
406977323	GWAS626299_H	platelet component distribution width QTL GWAS626299 (human)		1e-18	platelet size trait (VT:0010457)	platelet distribution width (CMO:0001350)	12	3126673	3126674	Human
597235060	GWAS1331134_H	appendicular lean mass QTL GWAS1331134 (human)		7e-22	appendicular lean mass		12	3119908	3119909	Human
406961199	GWAS610175_H	gut microbiome measurement, taxonomic microbiome measurement QTL GWAS610175 (human)		1e-08	gut microbiome measurement, taxonomic microbiome measurement		12	3273397	3273398	Human
406970416	GWAS619392_H	sporadic amyotrophic lateral sclerosis QTL GWAS619392 (human)		0.000003	sporadic amyotrophic lateral sclerosis		12	3218001	3218002	Human
597235308	GWAS1331382_H	appendicular lean mass QTL GWAS1331382 (human)		2e-55	appendicular lean mass		12	3283934	3283935	Human
597321958	GWAS1418032_H	cup-to-disc ratio measurement QTL GWAS1418032 (human)		6e-10	cup-to-disc ratio measurement		12	3244190	3244191	Human

D12S1626

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,295,633 - 3,295,818	UniSTS	GRCh37
Build 36	12	3,165,894 - 3,166,079	RGD	NCBI36
Celera	12	4,909,814 - 4,909,989	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,152,192 - 3,152,367	UniSTS
Marshfield Genetic Map	12	7.12	RGD
Marshfield Genetic Map	12	7.12	UniSTS
Genethon Genetic Map	12	7.0	UniSTS
deCODE Assembly Map	12	7.07	UniSTS
GeneMap99-G3 RH Map	12	171.0	UniSTS

D12S1569

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,395,607 - 3,395,678	UniSTS	GRCh37
Build 36	12	3,265,868 - 3,265,939	RGD	NCBI36
Celera	12	5,009,371 - 5,009,442	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,251,779 - 3,251,850	UniSTS
GeneMap99-GB4 RH Map	12	20.63	UniSTS

RH65872

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,215,467 - 3,215,586	UniSTS	GRCh37
Build 36	12	3,085,728 - 3,085,847	RGD	NCBI36
Celera	12	4,829,597 - 4,829,716	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,072,123 - 3,072,242	UniSTS
GeneMap99-GB4 RH Map	12	20.63	UniSTS

RH76323

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,271,235 - 3,271,464	UniSTS	GRCh37
Build 36	12	3,141,496 - 3,141,725	RGD	NCBI36
Celera	12	4,885,412 - 4,885,641	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,127,790 - 3,128,019	UniSTS

G42637

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,349,978 - 3,350,203	UniSTS	GRCh37
Build 36	12	3,220,239 - 3,220,464	RGD	NCBI36
Celera	12	4,963,743 - 4,963,968	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,206,772 - 3,206,997	UniSTS

G42638

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,348,246 - 3,348,355	UniSTS	GRCh37
Build 36	12	3,218,507 - 3,218,616	RGD	NCBI36
Celera	12	4,962,010 - 4,962,119	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,205,039 - 3,205,148	UniSTS

D12S961

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,268,060 - 3,268,207	UniSTS	GRCh37
Build 36	12	3,138,321 - 3,138,468	RGD	NCBI36
Celera	12	4,882,237 - 4,882,384	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,124,615 - 3,124,762	UniSTS

SHGC-132370

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,395,602 - 3,395,725	UniSTS	GRCh37
Build 36	12	3,265,863 - 3,265,986	RGD	NCBI36
Celera	12	5,009,366 - 5,009,489	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,251,774 - 3,251,897	UniSTS
TNG Radiation Hybrid Map	12	1342.0	UniSTS

SHGC-150872

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,295,648 - 3,295,842	UniSTS	GRCh37
Build 36	12	3,165,909 - 3,166,103	RGD	NCBI36
Celera	12	4,909,829 - 4,910,013	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,152,207 - 3,152,391	UniSTS
TNG Radiation Hybrid Map	12	1395.0	UniSTS
TNG Radiation Hybrid Map	2	13115.0	UniSTS

SHGC-146253

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,225,544 - 3,225,830	UniSTS	GRCh37
Build 36	12	3,095,805 - 3,096,091	RGD	NCBI36
Celera	12	4,839,695 - 4,839,981	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,082,174 - 3,082,460	UniSTS
TNG Radiation Hybrid Map	12	1429.0	UniSTS

SHGC-24138

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,395,602 - 3,395,692	UniSTS	GRCh37
Build 36	12	3,265,863 - 3,265,953	RGD	NCBI36
Celera	12	5,009,366 - 5,009,456	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,251,774 - 3,251,864	UniSTS
Stanford-G3 RH Map	12	176.0	UniSTS
GeneMap99-G3 RH Map	12	176.0	UniSTS

SHGC-154079

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,219,296 - 3,219,609	UniSTS	GRCh37
Build 36	12	3,089,557 - 3,089,870	RGD	NCBI36
Celera	12	4,833,448 - 4,833,761	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,075,926 - 3,076,239	UniSTS
TNG Radiation Hybrid Map	12	1441.0	UniSTS

SHGC-172085

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,393,666 - 3,393,986	UniSTS	GRCh37
Build 36	12	3,263,927 - 3,264,247	RGD	NCBI36
Celera	12	5,007,430 - 5,007,750	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,249,838 - 3,250,158	UniSTS
TNG Radiation Hybrid Map	12	1351.0	UniSTS

NET-_5_9188

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,392,257 - 3,392,901	UniSTS	GRCh37
Build 36	12	3,262,518 - 3,263,162	RGD	NCBI36
Celera	12	5,006,021 - 5,006,665	RGD
HuRef	12	3,248,429 - 3,249,073	UniSTS

D12S1403

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,395,595 - 3,395,724	UniSTS	GRCh37
Build 36	12	3,265,856 - 3,265,985	RGD	NCBI36
Celera	12	5,009,359 - 5,009,488	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,251,767 - 3,251,896	UniSTS
GeneMap99-GB4 RH Map	12	20.63	UniSTS
Whitehead-RH Map	12	54.0	UniSTS
NCBI RH Map	12	53.9	UniSTS

SHGC-32621

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,240,136 - 3,240,286	UniSTS	GRCh37
Build 36	12	3,110,397 - 3,110,547	RGD	NCBI36
Celera	12	4,854,316 - 4,854,466	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
Stanford-G3 RH Map	12	171.0	UniSTS
GeneMap99-GB4 RH Map	12	20.43	UniSTS
Whitehead-RH Map	12	53.6	UniSTS
NCBI RH Map	12	49.8	UniSTS
GeneMap99-G3 RH Map	12	171.0	UniSTS

G41249

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,340,904 - 3,341,117	UniSTS	GRCh37
Build 36	12	3,211,165 - 3,211,378	RGD	NCBI36
Celera	12	4,954,668 - 4,954,881	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,197,711 - 3,197,924	UniSTS

WI-10035

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	3,263,554 - 3,263,829	UniSTS	GRCh37
Build 36	12	3,133,815 - 3,134,090	RGD	NCBI36
Celera	12	4,877,731 - 4,878,006	RGD
Cytogenetic Map	12	p13.33-p13.32	UniSTS
HuRef	12	3,120,105 - 3,120,380	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	2248	4972	1726	2351	5	624	1895	465	2269	7254	6420	52	3733	1	852	1744	1617	174	1


RefSeq Transcripts	NM_001168320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011520912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011520913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428124	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370838	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001748559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC125807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF089749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF217967	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW025505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY523992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR542109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000011898 ⟹ ENSP00000011898

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,077,379 - 3,286,559 (+)	Ensembl

Ensembl Acc Id:

ENST00000407263 ⟹ ENSP00000384488

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,201,177 - 3,282,108 (+)	Ensembl

Ensembl Acc Id:

ENST00000431374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,215,251 - 3,281,281 (+)	Ensembl

Ensembl Acc Id:

ENST00000444315 ⟹ ENSP00000412908

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,077,377 - 3,279,006 (+)	Ensembl

Ensembl Acc Id:

ENST00000492305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,272,912 - 3,280,471 (+)	Ensembl

Ensembl Acc Id:

ENST00000537971 ⟹ ENSP00000444799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,077,355 - 3,286,564 (+)	Ensembl

Ensembl Acc Id:

ENST00000539631

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,077,428 - 3,084,210 (+)	Ensembl

Ensembl Acc Id:

ENST00000640568 ⟹ ENSP00000491848

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,199,984 - 3,278,612 (+)	Ensembl

Ensembl Acc Id:

ENST00000649909 ⟹ ENSP00000497370

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	3,077,385 - 3,281,756 (+)	Ensembl

RefSeq Acc Id:

NM_001168320 ⟹ NP_001161792

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI
GRCh37	12	3,186,521 - 3,395,730 (+)	RGD
Celera	12	4,800,573 - 5,009,494 (+)	RGD
HuRef	12	3,043,244 - 3,251,902 (+)	ENTREZGENE
CHM1_1	12	3,309,626 - 3,394,816 (+)	NCBI
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

Sequence:

show sequence

GTTTCCGCTGGCGGCGGCGGCGGCGGCGGTGCCGGAGCGCGAGCAGAGCGGAGACCCCCAGGTCCTGCGGGCGCGAATTTAAGAAGTGCAACATGGCCAGGGGCTGCCTCTGCTGCTTGAAGTACATG
ATGTTCCTCTTCAATTTGATATTCTGGCTCTGTGGCTGTGGGCTGCTGGGAGTGGGCATCTGGCTCTCCGTGTCCCAAGGCAACTTTGCCACCTTCTCCCCCAGCTTCCCTTCGTTGTCTGCAGCCAA
CCTGGTCATTGCCATAGGCACCATTGTCATGGTGACGGGCTTCCTCGGCTGCCTGGGGGCCATCAAGGAAAACAAGTGCCTCCTCCTCAGCTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGC
TGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTGAACGAGAACGCCAAGAAGGACCTGAAGGAAGGCCTGCTGCTGTACCACACCGAGAACAACGTGGGGCTGAAGAACGCCTGGAACATC
ATCCAGGCTGAGATGCGATGCTGTGGTGTCACTGACTACACAGACTGGTACCCAGTGCTGGGGGAGAACACGGTTCCCGACCGCTGCTGCATGGAGAACTCCCAGGGCTGCGGGCGCAACGCCACCAC
GCCTTTGTGGAGAACGGGCTGCTATGAAAAGGTGAAGATGTGGTTCGATGACAATAAGCACGTGCTGGGCACGGTGGGGATGTGCATCCTCATCATGCAGATCCTGGGCATGGCCTTCTCCATGACCC
TCTTCCAGCACATCCACCGGACTGGTAAGAAGTACGACGCATGAGCGGGCTGGCCGGGAGTGCCCACCCCGCCCTGCTGCCCTGTGGAGGGAAGAGGATTGAGCTTTGTGTCACCTGCCTGCGCTCTC
CAGATATGACCCCTGCACCCACCCCCCACAGCCTGCCCTACCCCACCTACCCTGCCTCAGCCTCGGACTTCTCAGTGGGTGGAGTGCCAGGGAGGAGGAGGCACACGGAGACCTGGGGCTCGGGGCCC
CTGGATTCCTGCATCTGCATATGCGTATTTGCCAAAGACGACAGGGTGGGCTGGGGTGCGCTCCGGAGGAACCCCCGGCACTGATGGGCTTCTGCCCCTGCCCTTCCTCACACTGACACTTTGTCCCC
ACATGGGGTGGGGAGCAGAGTGCCCGCCCCGTGGAGATACCGCCCCAGCGGGGGCTGCGACATCCATGGCCACCATGGGGCACCTGGCGGGGCGGGGGTCTGCCGGCCTCTGGGCAAGGCCCCTGGAG
CATCTCGCCCAGGCTTTTTATACCTTACAATGTAACTTTTTTATTTTATTTTACTCTATGATTATTCAGGAATATTATCTCTCAGATAAGTTTAGGGTTAGATTTCTGATTTGTAACTTTTTACTGTG
TTGATTTCTTTAATGGTTTGACTTTTTTTCCCTGAGGGTGAGGGATGGGTGGGAAGAGAGGACATCTGTCCAGTCTCAATCAGGACAGACCACCGTGCGACACCCAGGAGGCTCTCGGATGGGGCGCG
CCTGCGCCCTCAGAACGTGTGGGAAGGAGGGGGCGTGGACAGGACACGGGACCTTGCCAGGCCTGGTGTCTGAGGACAGGAGCCTGGGAGAGGCGGGTGGAGCGTGAAGCAGGCTGGAGGTGCCCCTG
CACGGGAGGTGGCGTTTGCTAACCAATCGAGCTGGAAATGCCAGGGCAGGGGGGCCCCACGGTGCTGTGGCAGAGCTAGAGGGGTCCTTAGACTTTTCACTGATGAGCAGTTGTTGGTTTTTTCTTTC
TCCCTTCCTCCCGCTCTCTGCTGGCACGCGAGGCTTCCCCTTCCACCCCATGTGGGTATTCCCACAACAGGTTCTGCACACCCCAGTTATTTCACAGACATTCCTGCTAGAAACTGTCAGACAAATAC
CTCTCTAGTTCGGATGCTGCTCACTTTCCCCCTTGCTTCTGGAAGGGGAAGCAGTCCTTAGGTTTTGCTGTGCTGGGACAGTGGCAGGGGACCCACAGGGGTGAGGACCCACGGTCCTCCCCGCCAGC
CTTGCTCAGCTGTGGGTTGCCCTGCTGGGAAGGAGGGAATCACGTCCACCTGGGTCCCAAGATCTTCGCCTCCTTCCCTGGGGCCACGGACATCAGCAGTGGGTTGGGTGGCGATTATATCATCTGTG
ATCCCAAGGAGAAGAAATACAGAAAACCCAAGAGAGGTCAGACTGGCTCTTGTTACCGGAGCCACGGGAAGAAAGCAGCCGGAGTCACGCACGTGCAGAGCTGGGCATGGGAGAGAAACGGGCTGGGG
AGTGAGGCCAGGAGTGGGATTCAGCTGCAGCAGGGCGCCCCCTCCAAACTGCAGCTGGTCTGGCTTACTGTTTTGCCGTTCAAAAAGGTCGCGAATCCGTGGGACTGAGCACGGGGACCTCACCCGCT
AGCCAGCGTCTGCTGCACTTGATCAGGTGGGGCCTTGGTGGGCGGCTGCCTTTCCTATACAGTTTGTCTTGTCACCCTGGTTTCCCACTGGGGCCAGGTCTCTTCTCCAGCCTCCACCTGCCTGTCTG
ATCCAAGAGCTGAGACACGGCCACCCAGCACCAGTCACTCCTCTGTTCACCTTAAGTAACACACAAATCGGGAACAGGAGGACAGAACCGTTGGCATTATCAGGATTCGTGTTTTGTGGGGGTGGGAG
TGGAGAGTAGGGTGGTCTTGTGAGTTGTGCAGGGTGAAGACCGCTTCCCTGAGACAGGGGCAGTGGTGCTGATGGAATGTGGGGGAGGCCCACATTTGAGCAAAGCTGCCCTGCCCTTGTCCCCTGGC
CTGGCTTCCTGGTAAGGAGTTTCAGCCGCCTCCGCAGGAACCCCCAAAGTGCAGATTCCGGAGCAGACACATCCGGGCGGAGAGACTCAGCAGACAAGTGCTGCAGTTGCACGGTGGGACCCGGGGCC
TCGTGCGTTTTTTGCTGTGGGTGGGGTGGGTGGGTTGGTTTATGCCTATCAATGCAATTTTTAATTTTTGTTAATATCAACAGCAAAAGCCTAGTGCATTGGGAGATGTGCAACCTCCCTGAAAATCT
TTTCTGTTTCTGGAGTACTTCAGGGGTGGCCTCTGGCCCCAGAGCCTTTGCCACAGTGCTCCCACCAGCCCCCACCTCATCCGTCTGTTTGCAGAGCCTCATCTACAGGTCCCCACGCTGCCTTCTTT
ACTCACTCTGCGCTTGGCCGTTTTGTTATTTGGCTTAGTCTACATTGGGCGGAAGTCTGTGTGCACAGAGTGGGTGTTCCTTCGAGCCCCTTCCACTCAGAGGGCCACACCCAGCGATGCCAGTGAAG
GTGGCACAGCCTCTCTTCAGTTTCTCCTGACTGTGATCTCACTGGGGTAGAATTCCCCTGAGAGAATTCCCTCACTCACGGCTCCCTTTGCCAGAGTCAGTTCAATCAGGTCTGATGTGAGCAATTTA
CACACTTGTCTCAGAAAGTCCCTCAGGGTTTGTAGAGGACTGCAGGGGGGCATCCGCTGCAGACTCAGCCTTTCTCTGCAGCCATCCTGCAGTGGGGGTGAGCGGGCACAGGCTGAGAACTGCTCTTG
GGTGGTGGAAGCAGGTGTCACGGTGCAAGTCTCCCCCTGCACCCCTCCCCCAGCTTGAGCCGTGTCACCCCCCTCTCCCTCCAGCATGGGCCTGTGTCTCAGGCTCTCTGGAAGGTGGCCCTGCCCCG
GACCCTCTTGCAGGTGTCCTGGTTTGACTTGGAACTAGATGGCCATCTTTCCAGGCTTTGGTGGCCCAAGAGCAGTCTGGGTGGATGGAAGTGGCTGTCCCCTCCTCTCCAGCCCCTGCCCACCCACT
GGTGGAGGTGCTAACTAGCAGGGACGTGGCATAGGATGGGAGCTGGGCGTGAGGTGCTTGGGGTCCATTCTTTGTCCCTCAGCTTCTCAGAGTCCGGCCAGCCCTTGTGTTCCCGTGCCCCACACTTT
CCTCCTCCCCACTGCAGTGAGTCAATAGTCCAGGGTGGGGCCTGGCCTCCCTGCCCTGATTGGGGACTCAGGAGGTGAGGCCTGGGGGGCTTCCTGCCCCCTCCTTGCCCACCTGCCTGCCCCCGGGC
AGCACGGGAGGGAGAGCAGGGTGAGCACGCTTGTTGGTTTCAGATGCACTTTCTGCTTGCATTGCCGTATCTGTGCGTTCCTTCATCCTGGTCCTGGCTTTATGGAACACCATGTTTTTAGCATGTTT
TTAAATAAAAACGGATAAAGTGTCAAAAGCA

hide sequence

RefSeq Acc Id:

NM_006675 ⟹ NP_006666

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI
GRCh37	12	3,186,521 - 3,395,730 (+)	RGD
Build 36	12	3,056,818 - 3,265,991 (+)	NCBI Archive
Celera	12	4,800,573 - 5,009,494 (+)	RGD
HuRef	12	3,043,244 - 3,251,902 (+)	ENTREZGENE
CHM1_1	12	3,185,640 - 3,394,816 (+)	NCBI
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

Sequence:

show sequence

GTTTCCGCTGGCGGCGGCGGCGGCGGCGGTGCCGGAGCGCGAGCAGAGCGGAGACCCCCAGGTC
CTGCGGGCGCGGAATATCCTGGAACCTTCTTTTGTTTGTCAGCAGCCAAGGTGTTTCCAGGAAGTTCAGAGAGAACAGAATTTAAGAAGTGCAACATGGCCAGGGGCTGCCTCTGCTGCTTGAAGTAC
ATGATGTTCCTCTTCAATTTGATATTCTGGCTCTGTGGCTGTGGGCTGCTGGGAGTGGGCATCTGGCTCTCCGTGTCCCAAGGCAACTTTGCCACCTTCTCCCCCAGCTTCCCTTCGTTGTCTGCAGC
CAACCTGGTCATTGCCATAGGCACCATTGTCATGGTGACGGGCTTCCTCGGCTGCCTGGGGGCCATCAAGGAAAACAAGTGCCTCCTCCTCAGCTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAG
AGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTGAACGAGAACGCCAAGAAGGACCTGAAGGAAGGCCTGCTGCTGTACCACACCGAGAACAACGTGGGGCTGAAGAACGCCTGGAAC
ATCATCCAGGCTGAGATGCGATGCTGTGGTGTCACTGACTACACAGACTGGTACCCAGTGCTGGGGGAGAACACGGTTCCCGACCGCTGCTGCATGGAGAACTCCCAGGGCTGCGGGCGCAACGCCAC
CACGCCTTTGTGGAGAACGGGCTGCTATGAAAAGGTGAAGATGTGGTTCGATGACAATAAGCACGTGCTGGGCACGGTGGGGATGTGCATCCTCATCATGCAGATCCTGGGCATGGCCTTCTCCATGA
CCCTCTTCCAGCACATCCACCGGACTGGTAAGAAGTACGACGCATGAGCGGGCTGGCCGGGAGTGCCCACCCCGCCCTGCTGCCCTGTGGAGGGAAGAGGATTGAGCTTTGTGTCACCTGCCTGCGCT
CTCCAGATATGACCCCTGCACCCACCCCCCACAGCCTGCCCTACCCCACCTACCCTGCCTCAGCCTCGGACTTCTCAGTGGGTGGAGTGCCAGGGAGGAGGAGGCACACGGAGACCTGGGGCTCGGGG
CCCCTGGATTCCTGCATCTGCATATGCGTATTTGCCAAAGACGACAGGGTGGGCTGGGGTGCGCTCCGGAGGAACCCCCGGCACTGATGGGCTTCTGCCCCTGCCCTTCCTCACACTGACACTTTGTC
CCCACATGGGGTGGGGAGCAGAGTGCCCGCCCCGTGGAGATACCGCCCCAGCGGGGGCTGCGACATCCATGGCCACCATGGGGCACCTGGCGGGGCGGGGGTCTGCCGGCCTCTGGGCAAGGCCCCTG
GAGCATCTCGCCCAGGCTTTTTATACCTTACAATGTAACTTTTTTATTTTATTTTACTCTATGATTATTCAGGAATATTATCTCTCAGATAAGTTTAGGGTTAGATTTCTGATTTGTAACTTTTTACT
GTGTTGATTTCTTTAATGGTTTGACTTTTTTTCCCTGAGGGTGAGGGATGGGTGGGAAGAGAGGACATCTGTCCAGTCTCAATCAGGACAGACCACCGTGCGACACCCAGGAGGCTCTCGGATGGGGC
GCGCCTGCGCCCTCAGAACGTGTGGGAAGGAGGGGGCGTGGACAGGACACGGGACCTTGCCAGGCCTGGTGTCTGAGGACAGGAGCCTGGGAGAGGCGGGTGGAGCGTGAAGCAGGCTGGAGGTGCCC
CTGCACGGGAGGTGGCGTTTGCTAACCAATCGAGCTGGAAATGCCAGGGCAGGGGGGCCCCACGGTGCTGTGGCAGAGCTAGAGGGGTCCTTAGACTTTTCACTGATGAGCAGTTGTTGGTTTTTTCT
TTCTCCCTTCCTCCCGCTCTCTGCTGGCACGCGAGGCTTCCCCTTCCACCCCATGTGGGTATTCCCACAACAGGTTCTGCACACCCCAGTTATTTCACAGACATTCCTGCTAGAAACTGTCAGACAAA
TACCTCTCTAGTTCGGATGCTGCTCACTTTCCCCCTTGCTTCTGGAAGGGGAAGCAGTCCTTAGGTTTTGCTGTGCTGGGACAGTGGCAGGGGACCCACAGGGGTGAGGACCCACGGTCCTCCCCGCC
AGCCTTGCTCAGCTGTGGGTTGCCCTGCTGGGAAGGAGGGAATCACGTCCACCTGGGTCCCAAGATCTTCGCCTCCTTCCCTGGGGCCACGGACATCAGCAGTGGGTTGGGTGGCGATTATATCATCT
GTGATCCCAAGGAGAAGAAATACAGAAAACCCAAGAGAGGTCAGACTGGCTCTTGTTACCGGAGCCACGGGAAGAAAGCAGCCGGAGTCACGCACGTGCAGAGCTGGGCATGGGAGAGAAACGGGCTG
GGGAGTGAGGCCAGGAGTGGGATTCAGCTGCAGCAGGGCGCCCCCTCCAAACTGCAGCTGGTCTGGCTTACTGTTTTGCCGTTCAAAAAGGTCGCGAATCCGTGGGACTGAGCACGGGGACCTCACCC
GCTAGCCAGCGTCTGCTGCACTTGATCAGGTGGGGCCTTGGTGGGCGGCTGCCTTTCCTATACAGTTTGTCTTGTCACCCTGGTTTCCCACTGGGGCCAGGTCTCTTCTCCAGCCTCCACCTGCCTGT
CTGATCCAAGAGCTGAGACACGGCCACCCAGCACCAGTCACTCCTCTGTTCACCTTAAGTAACACACAAATCGGGAACAGGAGGACAGAACCGTTGGCATTATCAGGATTCGTGTTTTGTGGGGGTGG
GAGTGGAGAGTAGGGTGGTCTTGTGAGTTGTGCAGGGTGAAGACCGCTTCCCTGAGACAGGGGCAGTGGTGCTGATGGAATGTGGGGGAGGCCCACATTTGAGCAAAGCTGCCCTGCCCTTGTCCCCT
GGCCTGGCTTCCTGGTAAGGAGTTTCAGCCGCCTCCGCAGGAACCCCCAAAGTGCAGATTCCGGAGCAGACACATCCGGGCGGAGAGACTCAGCAGACAAGTGCTGCAGTTGCACGGTGGGACCCGGG
GCCTCGTGCGTTTTTTGCTGTGGGTGGGGTGGGTGGGTTGGTTTATGCCTATCAATGCAATTTTTAATTTTTGTTAATATCAACAGCAAAAGCCTAGTGCATTGGGAGATGTGCAACCTCCCTGAAAA
TCTTTTCTGTTTCTGGAGTACTTCAGGGGTGGCCTCTGGCCCCAGAGCCTTTGCCACAGTGCTCCCACCAGCCCCCACCTCATCCGTCTGTTTGCAGAGCCTCATCTACAGGTCCCCACGCTGCCTTC
TTTACTCACTCTGCGCTTGGCCGTTTTGTTATTTGGCTTAGTCTACATTGGGCGGAAGTCTGTGTGCACAGAGTGGGTGTTCCTTCGAGCCCCTTCCACTCAGAGGGCCACACCCAGCGATGCCAGTG
AAGGTGGCACAGCCTCTCTTCAGTTTCTCCTGACTGTGATCTCACTGGGGTAGAATTCCCCTGAGAGAATTCCCTCACTCACGGCTCCCTTTGCCAGAGTCAGTTCAATCAGGTCTGATGTGAGCAAT
TTACACACTTGTCTCAGAAAGTCCCTCAGGGTTTGTAGAGGACTGCAGGGGGGCATCCGCTGCAGACTCAGCCTTTCTCTGCAGCCATCCTGCAGTGGGGGTGAGCGGGCACAGGCTGAGAACTGCTC
TTGGGTGGTGGAAGCAGGTGTCACGGTGCAAGTCTCCCCCTGCACCCCTCCCCCAGCTTGAGCCGTGTCACCCCCCTCTCCCTCCAGCATGGGCCTGTGTCTCAGGCTCTCTGGAAGGTGGCCCTGCC
CCGGACCCTCTTGCAGGTGTCCTGGTTTGACTTGGAACTAGATGGCCATCTTTCCAGGCTTTGGTGGCCCAAGAGCAGTCTGGGTGGATGGAAGTGGCTGTCCCCTCCTCTCCAGCCCCTGCCCACCC
ACTGGTGGAGGTGCTAACTAGCAGGGACGTGGCATAGGATGGGAGCTGGGCGTGAGGTGCTTGGGGTCCATTCTTTGTCCCTCAGCTTCTCAGAGTCCGGCCAGCCCTTGTGTTCCCGTGCCCCACAC
TTTCCTCCTCCCCACTGCAGTGAGTCAATAGTCCAGGGTGGGGCCTGGCCTCCCTGCCCTGATTGGGGACTCAGGAGGTGAGGCCTGGGGGGCTTCCTGCCCCCTCCTTGCCCACCTGCCTGCCCCCG
GGCAGCACGGGAGGGAGAGCAGGGTGAGCACGCTTGTTGGTTTCAGATGCACTTTCTGCTTGCATTGCCGTATCTGTGCGTTCCTTCATCCTGGTCCTGGCTTTATGGAACACCATGTTTTTAGCATG
TTTTTAAATAAAAACGGATAAAGTGTCAAAAGCA

hide sequence

RefSeq Acc Id:

XM_011520912 ⟹ XP_011519214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI

Sequence:

show sequence

CTGTTTCCGCTGGCGGCGGCGGCGGCGGCGGTGCCGGAGCGCGAGCAGAGCGGAGACCCCCAGG
TCCTGCGGGCGCGGAATATCCTGGAACCTTCTTTTGTTTGTCAGCAGCCAAGGTGTTTCCAGGAAGTTCAGAGAGAACAGAATTTAAGAAGTGCAACATGGCCAGGGGCTGCCTCTGCTGCTTGAAGT
ACATGATGTTCCTCTTCAATTTGATATTCTGGGATCCTCCAGTTGGTGAGAATGGGCTGACTGGGCTCGCAGAGGGCGGATCAGTTTTCTCGTGCCAGGAAGTCGTGGAATCGGGAGGTCATCTGGCT
CGTCCTGCGCTGAGCATTTGAACACAGGGCTGTCAAGGGAGAGCTCTGTGGCTGTGGGCTGCTGGGAGTGGGCATCTGGCTCTCCGTGTCCCAAGGCAACTTTGCCACCTTCTCCCCCAGCTTCCCTT
CGTTGTCTGCAGCCAACCTGGTCATTGCCATAGGCACCATTGTCATGGTGACGGGCTTCCTCGGCTGCCTGGGGGCCATCAAGGAAAACAAGTGCCTCCTCCTCAGCTTTTTCATCGTCCTGTTGGTC
ATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTGAACGAGAACGCCAAGAAGGACCTGAAGGAAGGCCTGCTGCTGTACCACACCGAGAACAACGTGGGGCTGAA
GAACGCCTGGAACATCATCCAGGCTGAGATGCGATGCTGTGGTGTCACTGACTACACAGACTGGTACCCAGTGCTGGGGGAGAACACGGTTCCCGACCGCTGCTGCATGGAGAACTCCCAGGGCTGCG
GGCGCAACGCCACCACGCCTTTGTGGAGAACGGGCTGCTATGAAAAGGTGAAGATGTGGTTCGATGACAATAAGCACGTGCTGGGCACGGTGGGGATGTGCATCCTCATCATGCAGATCCTGGGCATG
GCCTTCTCCATGACCCTCTTCCAGCACATCCACCGGACTGGTAAGAAGTACGACGCATGAGCGGGCTGGCCGGGAGTGCCCACCCCGCCCTGCTGCCCTGTGGAGGGAAGAGGATTGAGCTTTGTGTC
ACCTGCCTGCGCTCTCCAGATATGACCCCTGCACCCACCCCCCACAGCCTGCCCTACCCCACCTACCCTGCCTCAGCCTCGGACTTCTCAGTGGGTGGAGTGCCAGGGAGGAGGAGGCACACGGAGAC
CTGGGGCTCGGGGCCCCTGGATTCCTGCATCTGCATATGCGTATTTGCCAAAGACGACAGGGTGGGCTGGGGTGCGCTCCGGAGGAACCCCCGGCACTGATGGGCTTCTGCCCCTGCCCTTCCTCACA
CTGACACTTTGTCCCCACATGGGGTGGGGAGCAGAGTGCCCGCCCCGTGGAGATACCGCCCCAGCGGGGGCTGCGACATCCATGGCCACCATGGGGCACCTGGCGGGGCGGGGGTCTGCCGGCCTCTG
GGCAAGGCCCCTGGAGCATCTCGCCCAGGCTTTTTATACCTTACAATGTAACTTTTTTATTTTATTTTACTCTATGATTATTCAGGAATATTATCTCTCAGATAAGTTTAGGGTTAGATTTCTGATTT
GTAACTTTTTACTGTGTTGATTTCTTTAATGGTTTGACTTTTTTTCCCTGAGGGTGAGGGATGGGTGGGAAGAGAGGACATCTGTCCAGTCTCAATCAGGACAGACCACCGTGCGACACCCAGGAGGC
TCTCGGATGGGGCGCGCCTGCGCCCTCAGAACGTGTGGGAAGGAGGGGGCGTGGACAGGACACGGGACCTTGCCAGGCCTGGTGTCTGAGGACAGGAGCCTGGGAGAGGCGGGTGGAGCGTGAAGCAG
GCTGGAGGTGCCCCTGCACGGGAGGTGGCGTTTGCTAACCAATCGAGCTGGAAATGCCAGGGCAGGGGGGCCCCACGGTGCTGTGGCAGAGCTAGAGGGGTCCTTAGACTTTTCACTGATGAGCAGTT
GTTGGTTTTTTCTTTCTCCCTTCCTCCCGCTCTCTGCTGGCACGCGAGGCTTCCCCTTCCACCCCATGTGGGTATTCCCACAACAGGTTCTGCACACCCCAGTTATTTCACAGACATTCCTGCTAGAA
ACTGTCAGACAAATACCTCTCTAGTTCGGATGCTGCTCACTTTCCCCCTTGCTTCTGGAAGGGGAAGCAGTCCTTAGGTTTTGCTGTGCTGGGACAGTGGCAGGGGACCCACAGGGGTGAGGACCCAC
GGTCCTCCCCGCCAGCCTTGCTCAGCTGTGGGTTGCCCTGCTGGGAAGGAGGGAATCACGTCCACCTGGGTCCCAAGATCTTCGCCTCCTTCCCTGGGGCCACGGACATCAGCAGTGGGTTGGGTGGC
GATTATATCATCTGTGATCCCAAGGAGAAGAAATACAGAAAACCCAAGAGAGGTCAGACTGGCTCTTGTTACCGGAGCCACGGGAAGAAAGCAGCCGGAGTCACGCACGTGCAGAGCTGGGCATGGGA
GAGAAACGGGCTGGGGAGTGAGGCCAGGAGTGGGATTCAGCTGCAGCAGGGCGCCCCCTCCAAACTGCAGCTGGTCTGGCTTACTGTTTTGCCGTTCAAAAAGGTCGCGAATCCGTGGGACTGAGCAC
GGGGACCTCACCCGCTAGCCAGCGTCTGCTGCACTTGATCAGGTGGGGCCTTGGTGGGCGGCTGCCTTTCCTATACAGTTTGTCTTGTCACCCTGGTTTCCCACTGGGGCCAGGTCTCTTCTCCAGCC
TCCACCTGCCTGTCTGATCCAAGAGCTGAGACACGGCCACCCAGCACCAGTCACTCCTCTGTTCACCTTAAGTAACACACAAATCGGGAACAGGAGGACAGAACCGTTGGCATTATCAGGATTCGTGT
TTTGTGGGGGTGGGAGTGGAGAGTAGGGTGGTCTTGTGAGTTGTGCAGGGTGAAGACCGCTTCCCTGAGACAGGGGCAGTGGTGCTGATGGAATGTGGGGGAGGCCCACATTTGAGCAAAGCTGCCCT
GCCCTTGTCCCCTGGCCTGGCTTCCTGGTAAGGAGTTTCAGCCGCCTCCGCAGGAACCCCCAAAGTGCAGATTCCGGAGCAGACACATCCGGGCGGAGAGACTCAGCAGACAAGTGCTGCAGTTGCAC
GGTGGGACCCGGGGCCTCGTGCGTTTTTTGCTGTGGGTGGGGTGGGTGGGTTGGTTTATGCCTATCAATGCAATTTTTAATTTTTGTTAATATCAACAGCAAAAGCCTAGTGCATTGGGAGATGTGCA
ACCTCCCTGAAAATCTTTTCTGTTTCTGGAGTACTTCAGGGGTGGCCTCTGGCCCCAGAGCCTTTGCCACAGTGCTCCCACCAGCCCCCACCTCATCCGTCTGTTTGCAGAGCCTCATCTACAGGTCC
CCACGCTGCCTTCTTTACTCACTCTGCGCTTGGCCGTTTTGTTATTTGGCTTAGTCTACATTGGGCGGAAGTCTGTGTGCACAGAGTGGGTGTTCCTTCGAGCCCCTTCCACTCAGAGGGCCACACCC
AGCGATGCCAGTGAAGGTGGCACAGCCTCTCTTCAGTTTCTCCTGACTGTGATCTCACTGGGGTAGAATTCCCCTGAGAGAATTCCCTCACTCACGGCTCCCTTTGCCAGAGTCAGTTCAATCAGGTC
TGATGTGAGCAATTTACACACTTGTCTCAGAAAGTCCCTCAGGGTTTGTAGAGGACTGCAGGGGGGCATCCGCTGCAGACTCAGCCTTTCTCTGCAGCCATCCTGCAGTGGGGGTGAGCGGGCACAGG
CTGAGAACTGCTCTTGGGTGGTGGAAGCAGGTGTCACGGTGCAAGTCTCCCCCTGCACCCCTCCCCCAGCTTGAGCCGTGTCACCCCCCTCTCCCTCCAGCATGGGCCTGTGTCTCAGGCTCTCTGGA
AGGTGGCCCTGCCCCGGACCCTCTTGCAGGTGTCCTGGTTTGACTTGGAACTAGATGGCCATCTTTCCAGGCTTTGGTGGCCCAAGAGCAGTCTGGGTGGATGGAAGTGGCTGTCCCCTCCTCTCCAG
CCCCTGCCCACCCACTGGTGGAGGTGCTAACTAGCAGGGACGTGGCATAGGATGGGAGCTGGGCGTGAGGTGCTTGGGGTCCATTCTTTGTCCCTCAGCTTCTCAGAGTCCGGCCAGCCCTTGTGTTC
CCGTGCCCCACACTTTCCTCCTCCCCACTGCAGTGAGTCAATAGTCCAGGGTGGGGCCTGGCCTCCCTGCCCTGATTGGGGACTCAGGAGGTGAGGCCTGGGGGGCTTCCTGCCCCCTCCTTGCCCAC
CTGCCTGCCCCCGGGCAGCACGGGAGGGAGAGCAGGGTGAGCACGCTTGTTGGTTTCAGATGCACTTTCTGCTTGCATTGCCGTATCTGTGCGTTCCTTCATCCTGGTCCTGGCTTTATGGAACACCA
TGTTTTTAGCATGTTTTTAAATAAAAACGGATAAAGTGTCAAAAGCACA

hide sequence

RefSeq Acc Id:

XM_047428124 ⟹ XP_047284080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,200,351 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_047428125 ⟹ XP_047284081

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_047428126 ⟹ XP_047284082

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,104,025 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_047428127 ⟹ XP_047284083

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_047428128 ⟹ XP_047284084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_047428129 ⟹ XP_047284085

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,273,101 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_047428130 ⟹ XP_047284086

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,215,314 - 3,286,559 (+)	NCBI

RefSeq Acc Id:

XM_054370833 ⟹ XP_054226808

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

RefSeq Acc Id:

XM_054370834 ⟹ XP_054226809

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

RefSeq Acc Id:

XM_054370835 ⟹ XP_054226810

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,110,029 - 3,293,033 (+)	NCBI

RefSeq Acc Id:

XM_054370836 ⟹ XP_054226811

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

RefSeq Acc Id:

XM_054370837 ⟹ XP_054226812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

RefSeq Acc Id:

XM_054370838 ⟹ XP_054226813

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,083,510 - 3,293,033 (+)	NCBI

RefSeq Acc Id:

XM_054370839 ⟹ XP_054226814

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,207,408 - 3,279,545 (+)	NCBI

RefSeq Acc Id:

XR_008488508

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	3,207,408 - 3,285,040 (+)	NCBI


Protein RefSeqs	NP_001161792	(Get FASTA)	NCBI Sequence Viewer
	NP_006666	(Get FASTA)	NCBI Sequence Viewer
	XP_011519214	(Get FASTA)	NCBI Sequence Viewer
	XP_047284080	(Get FASTA)	NCBI Sequence Viewer
	XP_047284081	(Get FASTA)	NCBI Sequence Viewer
	XP_047284082	(Get FASTA)	NCBI Sequence Viewer
	XP_047284083	(Get FASTA)	NCBI Sequence Viewer
	XP_047284084	(Get FASTA)	NCBI Sequence Viewer
	XP_047284085	(Get FASTA)	NCBI Sequence Viewer
	XP_047284086	(Get FASTA)	NCBI Sequence Viewer
	XP_054226808	(Get FASTA)	NCBI Sequence Viewer
	XP_054226809	(Get FASTA)	NCBI Sequence Viewer
	XP_054226810	(Get FASTA)	NCBI Sequence Viewer
	XP_054226811	(Get FASTA)	NCBI Sequence Viewer
	XP_054226812	(Get FASTA)	NCBI Sequence Viewer
	XP_054226813	(Get FASTA)	NCBI Sequence Viewer
	XP_054226814	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC35859	(Get FASTA)	NCBI Sequence Viewer
	AAG17210	(Get FASTA)	NCBI Sequence Viewer
	AAH71881	(Get FASTA)	NCBI Sequence Viewer
	AAT01541	(Get FASTA)	NCBI Sequence Viewer
	BAD96899	(Get FASTA)	NCBI Sequence Viewer
	BAG51307	(Get FASTA)	NCBI Sequence Viewer
	CAG46906	(Get FASTA)	NCBI Sequence Viewer
	EAW88867	(Get FASTA)	NCBI Sequence Viewer
	EAW88868	(Get FASTA)	NCBI Sequence Viewer
	EAW88869	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000011898
	ENSP00000011898.5
	ENSP00000444799
	ENSP00000444799.1
GenBank Protein	O75954	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_006666 ⟸ NM_006675

- UniProtKB:

Q53FV2 (UniProtKB/Swiss-Prot), D3DUQ7 (UniProtKB/Swiss-Prot), Q6FGJ8 (UniProtKB/Swiss-Prot), O75954 (UniProtKB/Swiss-Prot), B5MD23 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENKCLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHT
ENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA

hide sequence

RefSeq Acc Id:	NP_001161792 ⟸ NM_001168320
- UniProtKB:	Q53FV2 (UniProtKB/Swiss-Prot), D3DUQ7 (UniProtKB/Swiss-Prot), Q6FGJ8 (UniProtKB/Swiss-Prot), O75954 (UniProtKB/Swiss-Prot), B5MD23 (UniProtKB/TrEMBL)
- Sequence:	show sequence MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENKCLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHT ENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA hide sequence

RefSeq Acc Id:	XP_011519214 ⟸ XM_011520912
- Peptide Label:	isoform X3
- Sequence:	show sequence MVTGFLGCLGAIKENKCLLLSFFIVLLVILLAELILLILFFVYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYE KVKMWFDDNKHVLGTVGMCILIMQILGMAFSMTLFQHIHRTGKKYDA hide sequence

Ensembl Acc Id:

ENSP00000497370 ⟸ ENST00000649909

Ensembl Acc Id:

ENSP00000412908 ⟸ ENST00000444315

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75954-F1-model_v2	AlphaFold	O75954	1-239	view protein structure

RGD ID:

6790574

Promoter ID:

HG_KWN:14743

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_001168320, UC001QLP.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	3,056,351 - 3,056,927 (+)	MPROMDB

RGD ID:

7222779

Promoter ID:

EPDNEW_H17135

Type:

initiation region

Name:

TSPAN9_2

Description:

tetraspanin 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17136 EPDNEW_H17137

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,071,233 - 3,071,293	EPDNEW

RGD ID:

7222781

Promoter ID:

EPDNEW_H17136

Type:

initiation region

Name:

TSPAN9_1

Description:

tetraspanin 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17135 EPDNEW_H17137

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,077,379 - 3,077,439	EPDNEW

RGD ID:

7222785

Promoter ID:

EPDNEW_H17137

Type:

initiation region

Name:

TSPAN9_3

Description:

tetraspanin 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17135 EPDNEW_H17136

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	3,200,351 - 3,200,411	EPDNEW

Database	Acc Id	Source(s)
COSMIC	TSPAN9	COSMIC
Ensembl Genes	ENSG00000011105	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000011898	ENTREZGENE
	ENST00000011898.10	UniProtKB/Swiss-Prot
	ENST00000537971	ENTREZGENE
	ENST00000537971.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.1450.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000011105	GTEx
HGNC ID	HGNC:21640	ENTREZGENE
Human Proteome Map	TSPAN9	Human Proteome Map
InterPro	Tetraspanin	UniProtKB/Swiss-Prot
	Tetraspanin/Peripherin	UniProtKB/Swiss-Prot
	Tetraspanin_CS	UniProtKB/Swiss-Prot
	Tetraspanin_EC2_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:10867	UniProtKB/Swiss-Prot
NCBI Gene	10867	ENTREZGENE
OMIM	613137	OMIM
PANTHER	PTHR19282	UniProtKB/Swiss-Prot
	TETRASPANIN-9	UniProtKB/Swiss-Prot
Pfam	Tetraspanin	UniProtKB/Swiss-Prot
PharmGKB	PA142670694	PharmGKB
PIRSF	Tetraspanin	UniProtKB/Swiss-Prot
PRINTS	TMFOUR	UniProtKB/Swiss-Prot
PROSITE	TM4_1	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48652	UniProtKB/Swiss-Prot
UniProt	A0A1W2PQ04_HUMAN	UniProtKB/TrEMBL
	A0A3B3IST1_HUMAN	UniProtKB/TrEMBL
	B5MD23	ENTREZGENE, UniProtKB/TrEMBL
	D3DUQ7	ENTREZGENE
	E9PHL0_HUMAN	UniProtKB/TrEMBL
	O75954	ENTREZGENE
	Q53FV2	ENTREZGENE
	Q6FGJ8	ENTREZGENE
	TSN9_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	D3DUQ7	UniProtKB/Swiss-Prot
	Q53FV2	UniProtKB/Swiss-Prot
	Q6FGJ8	UniProtKB/Swiss-Prot

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
		Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Send us a Message

Imported Disease Annotations - ClinVar