Advanced Search (OLGA)

Gene: TMEM250 (transmembrane protein 250) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

TMEM250

Name:

transmembrane protein 250

RGD ID:

1349018

HGNC Page

HGNC:31009

Description:

Involved in positive regulation of cell population proliferation and positive regulation of viral process. Located in cytoplasm and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bA83N9.1; C9orf69; chromosome 9 open reading frame 69; herpes virus UL25-binding protein; hypothetical protein LOC90120; uncharacterized protein LOC90120

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):	Tmem250 (transmembrane protein 250)	HGNC	HomoloGene, NCBI
Rattus norvegicus (Norway rat):	Tmem250 (transmembrane protein 250)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Tmem250 (transmembrane protein 250)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TMEM250 (transmembrane protein 250)	NCBI	Ortholog
Canis lupus familiaris (dog):	TMEM250 (transmembrane protein 250)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tmem250 (transmembrane protein 250)	NCBI	Ortholog
Sus scrofa (pig):	TMEM250 (transmembrane protein 250)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	TMEM250 (transmembrane protein 250)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tmem250 (transmembrane protein 250)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tmem250 (transmembrane protein 250)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tmem250 (transmembrane protein 250)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SHS1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	tmem250	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER)
Xenopus laevis (African clawed frog):	tmem250.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tmem250.S	Alliance	DIOPT (Xenbase)

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	9	136,114,589 - 136,118,875 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,114,581 - 136,118,875 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	139,006,435 - 139,010,721 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	138,146,248 - 138,150,552 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	109,524,655 - 109,528,958 (-)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	108,469,372 - 108,473,646 (-)	NCBI		HuRef
CHM1_1	9	139,154,725 - 139,159,029 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	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)
TMEM250	Human	Adams-Oliver Syndrome 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 5	ClinVar	PMID:28492532
TMEM250	Human	Adams-Oliver Syndrome 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 5	ClinVar	PMID:16025100 more ...
TMEM250	Human	Adams-Oliver Syndrome 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 5	ClinVar	PMID:28492532 and PMID:29907982
TMEM250	Human	Adams-Oliver Syndrome 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Adams-Oliver syndrome 5	ClinVar	PMID:19597493 and PMID:28492532
TMEM250	Human	autosomal dominant intellectual developmental disorder 8		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant	ClinVar	PMID:28492532
TMEM250	Human	autosomal dominant nocturnal frontal lobe epilepsy 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5	ClinVar	PMID:28492532
TMEM250	Human	developmental and epileptic encephalopathy 14		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14	ClinVar	PMID:19264732 more ...
TMEM250	Human	developmental and epileptic encephalopathy 14		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TMEM250	Human	developmental and epileptic encephalopathy 14		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14	ClinVar	PMID:16025100 more ...
TMEM250	Human	Ehlers-Danlos syndrome classic type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...	ClinVar	PMID:28492532 and PMID:29907982
TMEM250	Human	Joubert syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial aplasia of the vermis	ClinVar	PMID:16025100 more ...
TMEM250	Human	Kleefstra syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Kleefstra syndrome 1	ClinVar	PMID:19264732 more ...
TMEM250	Human	Kleefstra syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Kleefstra syndrome 1	ClinVar	PMID:22318994 more ...
TMEM250	Human	Leigh disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Leigh syndrome	ClinVar	PMID:28492532
TMEM250	Human	primary coenzyme Q10 deficiency 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	ClinVar	PMID:28492532
TMEM250	Human	Rafiq syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Rafiq syndrome	ClinVar	PMID:28492532
TMEM250	Human	tuberous sclerosis 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Tuberous sclerosis 1	ClinVar	PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TMEM250	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Tmem250 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of TMEM250 mRNA	CTD	PMID:36331819
TMEM250	Human	17beta-estradiol	increases expression	ISO	Tmem250 (Mus musculus)	6480464	Estradiol results in increased expression of TMEM250 mRNA	CTD	PMID:39298647
TMEM250	Human	2-deoxy-D-glucose	increases expression	EXP		6480464	Deoxyglucose results in increased expression of TMEM250 mRNA	CTD	PMID:33770205
TMEM250	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Tmem250 (Mus musculus)	6480464	bisphenol S results in increased expression of TMEM250 mRNA	CTD	PMID:39298647
TMEM250	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of TMEM250 intron and Aflatoxin B1 results in increased methylation of TMEM250 polyA tail	CTD	PMID:30157460
TMEM250	Human	avobenzone	decreases expression	EXP		6480464	avobenzone results in decreased expression of TMEM250 mRNA	CTD	PMID:31016361
TMEM250	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of TMEM250 promoter	CTD	PMID:27901495
TMEM250	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of TMEM250 intron	CTD	PMID:30157460
TMEM250	Human	bisphenol A	increases expression	ISO	Tmem250 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of TMEM250 mRNA	CTD	PMID:25181051
TMEM250	Human	bisphenol A	increases expression	ISO	Tmem250 (Mus musculus)	6480464	bisphenol A results in increased expression of TMEM250 mRNA	CTD	PMID:33221593
TMEM250	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of TMEM250 gene	CTD	PMID:31601247
TMEM250	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of TMEM250 gene	CTD	PMID:31601247
TMEM250	Human	bleomycin A2	increases expression	EXP		6480464	Bleomycin results in increased expression of TMEM250 mRNA	CTD	PMID:33770205
TMEM250	Human	buspirone	increases expression	ISO	Tmem250 (Rattus norvegicus)	6480464	Buspirone results in increased expression of TMEM250 mRNA	CTD	PMID:24136188
TMEM250	Human	cadmium dichloride	decreases expression	ISO	Tmem250 (Rattus norvegicus)	6480464	Cadmium Chloride results in decreased expression of TMEM250 mRNA	CTD	PMID:33453195
TMEM250	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of TMEM250 mRNA	CTD	PMID:26472689
TMEM250	Human	camptothecin	increases expression	EXP		6480464	Camptothecin results in increased expression of TMEM250 mRNA	CTD	PMID:33770205
TMEM250	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of TMEM250 mRNA	CTD	PMID:27594783
TMEM250	Human	cobalt dichloride	decreases expression	ISO	Tmem250 (Rattus norvegicus)	6480464	cobaltous chloride results in decreased expression of TMEM250 mRNA	CTD	PMID:24386269
TMEM250	Human	copper(II) chloride	increases expression	EXP		6480464	cupric chloride results in increased expression of TMEM250 mRNA	CTD	PMID:38568856
TMEM250	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of TMEM250 mRNA	CTD	PMID:37042841
TMEM250	Human	diuron	increases expression	ISO	Tmem250 (Rattus norvegicus)	6480464	Diuron results in increased expression of TMEM250 mRNA	CTD	PMID:21551480
TMEM250	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of TMEM250 mRNA	CTD	PMID:29803840
TMEM250	Human	fenthion	decreases expression	ISO	Tmem250 (Mus musculus)	6480464	Fenthion results in decreased expression of TMEM250 mRNA	CTD	PMID:34813904
TMEM250	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of TMEM250 gene	CTD	PMID:31601247
TMEM250	Human	gallic acid	decreases expression	EXP		6480464	Gallic Acid results in decreased expression of TMEM250 mRNA	CTD	PMID:34408198
TMEM250	Human	hydroxyurea	increases expression	EXP		6480464	Hydroxyurea results in increased expression of TMEM250 mRNA	CTD	PMID:33770205
TMEM250	Human	iron dichloride	decreases expression	EXP		6480464	ferrous chloride results in decreased expression of TMEM250 mRNA	CTD	PMID:35984750
TMEM250	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of TMEM250 intron	CTD	PMID:30157460
TMEM250	Human	methidathion	decreases expression	ISO	Tmem250 (Mus musculus)	6480464	methidathion results in decreased expression of TMEM250 mRNA	CTD	PMID:34813904
TMEM250	Human	nitrates	multiple interactions	ISO	Tmem250 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of TMEM250 mRNA	CTD	PMID:35964746
TMEM250	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of TMEM250 mRNA	CTD	PMID:29067470
TMEM250	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Tmem250 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of TMEM250 mRNA	CTD	PMID:36331819
TMEM250	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of TMEM250 mRNA	CTD	PMID:38568856
TMEM250	Human	tetrachloromethane	decreases expression	ISO	Tmem250 (Mus musculus)	6480464	Carbon Tetrachloride results in decreased expression of TMEM250 mRNA	CTD	PMID:31919559
TMEM250	Human	thioacetamide	decreases expression	ISO	Tmem250 (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of TMEM250 mRNA	CTD	PMID:34492290
TMEM250	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of TMEM250 mRNA	CTD	PMID:38568856
TMEM250	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of TMEM250 gene	CTD	PMID:29154799
TMEM250	Human	vinclozolin	affects expression	ISO	Tmem250 (Rattus norvegicus)	6480464	vinclozolin affects the expression of TMEM250 mRNA	CTD	PMID:19015723
TMEM250	Human	vinclozolin	decreases methylation	ISO	Tmem250 (Rattus norvegicus)	6480464	vinclozolin results in decreased methylation of TMEM250 gene	CTD	PMID:31682807

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)
TMEM250	Human	positive regulation of cell population proliferation	involved_in	IDA		150520179	PMID:21667337	UniProt	PMID:21667337
TMEM250	Human	positive regulation of viral process	involved_in	IDA		150520179	PMID:21667337	UniProt	PMID:21667337

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)
TMEM250	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TMEM250	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TMEM250	Human	cytoplasm	located_in	IDA		150520179	PMID:21667337	UniProt	PMID:21667337
TMEM250	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
TMEM250	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
TMEM250	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
TMEM250	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
TMEM250	Human	nucleus	is_active_in	IBA	PANTHER:PTN008360028 and UniProtKB:H0YL14	150520179		GO_Central	GO_REF:0000033
TMEM250	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
TMEM250	Human	nucleus	located_in	IDA		150520179	PMID:21667337	UniProt	PMID:21667337

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)
TMEM250	Human	protein binding	enables	IPI	UniProtKB:D3YP88	150520179	PMID:21667337	IntAct	PMID:21667337
TMEM250	Human	protein binding	enables	IPI	UniProtKB:P10209	150520179	PMID:21667337	UniProt	PMID:21667337

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

PMID:12477932	PMID:14702039	PMID:16344560	PMID:21667337	PMID:21873635	PMID:32513696

TMEM250
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	136,114,589 - 136,118,875 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,114,581 - 136,118,875 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	139,006,435 - 139,010,721 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	138,146,248 - 138,150,552 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	109,524,655 - 109,528,958 (-)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	108,469,372 - 108,473,646 (-)	NCBI		HuRef
CHM1_1	9	139,154,725 - 139,159,029 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	NCBI		T2T-CHM13v2.0

Tmem250
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	26,026,819 - 26,030,518 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	26,026,826 - 26,030,533 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	26,136,807 - 26,140,506 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	26,136,814 - 26,140,521 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	25,983,951 - 25,996,026 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	25,958,820 - 25,962,342 (-)	NCBI		MGSCv36	mm8
Celera	2	25,850,901 - 25,863,014 (-)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	18.35	NCBI

Tmem250
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	29,360,770 - 29,364,756 (-)	NCBI		GRCr8
mRatBN7.2	3	8,962,657 - 8,966,349 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	8,962,657 - 8,966,349 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	12,016,515 - 12,020,204 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	20,599,743 - 20,603,432 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	18,855,057 - 18,858,746 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	3,590,783 - 3,594,475 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	3,590,783 - 3,594,475 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	8,952,576 - 8,956,268 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	4,317,604 - 4,321,296 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	3,785,606 - 3,789,298 (-)	NCBI		Celera
Cytogenetic Map	3	p13	NCBI

Tmem250
(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_004955513	4,520,445 - 4,524,203 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	4,520,445 - 4,524,203 (+)	NCBI	ChiLan1.0	ChiLan1.0

TMEM250
(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	11	3,267,774 - 3,271,805 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	3,270,109 - 3,274,140 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	107,187,362 - 107,191,642 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	136,168,980 - 136,171,292 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	136,170,880 - 136,171,292 (-)	Ensembl	panpan1.1		panPan2

TMEM250
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	49,308,397 - 49,311,360 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	49,308,350 - 49,311,487 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	48,558,059 - 48,561,647 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	50,184,246 - 50,187,834 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	50,184,284 - 50,187,961 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	48,964,734 - 48,968,322 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	49,259,025 - 49,262,613 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	49,306,637 - 49,310,225 (+)	NCBI		UU_Cfam_GSD_1.0

Tmem250
(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_024404947	201,746,255 - 201,749,605 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936669	1,626,877 - 1,627,296 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936669	1,625,459 - 1,628,801 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TMEM250
(Sus scrofa - pig)

No map positions available.

TMEM250
(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	12	2,081,265 - 2,085,553 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	2,083,261 - 2,083,680 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666058	3,125,343 - 3,129,621 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tmem250
(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 1.0	NW_004624760	1,383,478 - 1,386,722 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TMEM250
2 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	copy number gain	See cases [RCV000050604]	Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|See cases [RCV000051902]	Chr6:152376338..170583214 [GRCh38] Chr6:152697473..170892302 [GRCh37] Chr6:152739166..170734227 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	copy number loss	See cases [RCV000052207]	Chr6:154118058..170602152 [GRCh38] Chr6:154439193..170911240 [GRCh37] Chr6:154480885..170753165 [NCBI36] Chr6:6q25.2-27	pathogenic
NM_001130700.2(IPCEF1):c.413C>T (p.Ser138Leu)	single nucleotide variant	not specified [RCV004253555]	Chr6:154214256 [GRCh38] Chr6:154535390 [GRCh37] Chr6:6q25.2	likely benign
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	copy number loss	See cases [RCV000134896]	Chr6:154178964..159020369 [GRCh38] Chr6:154500098..159441401 [GRCh37] Chr6:154541790..159361389 [NCBI36] Chr6:6q25.2-25.3	likely pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	copy number loss	See cases [RCV000139578]	Chr6:150381239..159553952 [GRCh38] Chr6:150702375..159974984 [GRCh37] Chr6:150744068..159894974 [NCBI36] Chr6:6q25.1-25.3	pathogenic
GRCh38/hg38 6q25.2(chr6:153921611-154560027)x3	copy number gain	See cases [RCV000139799]	Chr6:153921611..154560027 [GRCh38] Chr6:154242746..154881161 [GRCh37] Chr6:154284439..154922853 [NCBI36] Chr6:6q25.2	uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	copy number loss	See cases [RCV000141880]	Chr6:152793402..170610394 [GRCh38] Chr6:153114537..170919482 [GRCh37] Chr6:153156230..170761407 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.2(chr6:154345608-154588138)x3	copy number gain	See cases [RCV000142880]	Chr6:154345608..154588138 [GRCh38] Chr6:154666742..154909272 [GRCh37] Chr6:154708434..154950964 [NCBI36] Chr6:6q25.2	uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	copy number gain	See cases [RCV000142594]	Chr6:152376338..170612001 [GRCh38] Chr6:152697473..170921089 [GRCh37] Chr6:152739166..170763014 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	copy number gain	See cases [RCV000143444]	Chr6:133537271..165875545 [GRCh38] Chr6:133858409..166289033 [GRCh37] Chr6:133900102..166209023 [NCBI36] Chr6:6q23.2-27	pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	copy number gain	See cases [RCV000449011]	Chr6:151214792..170892243 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6q25.2(chr6:154283654-154617461)x4	copy number gain	See cases [RCV000449473]	Chr6:154283654..154617461 [GRCh37] Chr6:6q25.2	likely benign
GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)x1	copy number loss	See cases [RCV000446757]	Chr6:153647248..158255989 [GRCh37] Chr6:6q25.2-25.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	complex	Coffin-Siris syndrome 1 [RCV000714957]	Chr6:151443333..171115067 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3	copy number gain	not provided [RCV000746100]	Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6q25.2(chr6:154614426-154621259)x1	copy number loss	not provided [RCV000746125]	Chr6:154614426..154621259 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q25.2(chr6:154616419-154621259)x0	copy number loss	not provided [RCV000746126]	Chr6:154616419..154621259 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q25.2(chr6:154620165-154621706)x0	copy number loss	not provided [RCV000746127]	Chr6:154620165..154621706 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	copy number gain	not provided [RCV000846496]	Chr6:148195086..160127254 [GRCh37] Chr6:6q24.3-25.3	pathogenic
NM_001130700.2(IPCEF1):c.553T>C (p.Ser185Pro)	single nucleotide variant	not provided [RCV000893994]	Chr6:154200025 [GRCh38] Chr6:154521159 [GRCh37] Chr6:6q25.2	benign
NM_001008503.3(OPRM1):c.1165-151G>A	single nucleotide variant	Tramadol response [RCV001028988]	Chr6:154246542 [GRCh38] Chr6:154567676 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.1165-182T>C	single nucleotide variant	Tramadol response [RCV001028173]	Chr6:154246511 [GRCh38] Chr6:154567645 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.1165-1G>A	single nucleotide variant	Tramadol response [RCV001028986]	Chr6:154246692 [GRCh38] Chr6:154567826 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.*39C>T	single nucleotide variant	Tramadol response [RCV001028982]	Chr6:154246824 [GRCh38] Chr6:154567958 [GRCh37] Chr6:6q25.2	drug response
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	copy number gain	See cases [RCV000136826]	Chr6:135358150..155455117 [GRCh38] Chr6:135679288..155776251 [GRCh37] Chr6:135720981..155817943 [NCBI36] Chr6:6q23.3-25.3	pathogenic
GRCh37/hg19 6q25.2-25.3(chr6:154648703-156904256)x1	copy number loss	not provided [RCV000847839]	Chr6:154648703..156904256 [GRCh37] Chr6:6q25.2-25.3	uncertain significance
NC_000006.12:g.154246874G>T	single nucleotide variant	Tramadol response [RCV001028980]	Chr6:154246874 [GRCh38] Chr6:154568008 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.*13C>T	single nucleotide variant	Tramadol response [RCV001028984]	Chr6:154246798 [GRCh38] Chr6:154567932 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.1165-161T>G	single nucleotide variant	Tramadol response [RCV001028989]	Chr6:154246532 [GRCh38] Chr6:154567666 [GRCh37] Chr6:6q25.2	drug response
NC_000006.12:g.154246905del	deletion	Tramadol response [RCV001028978]	Chr6:154246903 [GRCh38] Chr6:154568037 [GRCh37] Chr6:6q25.2	drug response
NC_000006.12:g.154246891C>T	single nucleotide variant	Tramadol response [RCV001028979]	Chr6:154246891 [GRCh38] Chr6:154568025 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.1201C>T (p.Arg401Ter)	single nucleotide variant	Tramadol response [RCV001028985]	Chr6:154246729 [GRCh38] Chr6:154567863 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.1164+74814C>T	single nucleotide variant	not provided [RCV001690438]	Chr6:154166286 [GRCh38] Chr6:154487421 [GRCh37] Chr6:6q25.2	benign
NM_001008503.3(OPRM1):c.*48G>T	single nucleotide variant	Tramadol response [RCV001028981]	Chr6:154246833 [GRCh38] Chr6:154567967 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.*38C>T	single nucleotide variant	Tramadol response [RCV001028983]	Chr6:154246823 [GRCh38] Chr6:154567957 [GRCh37] Chr6:6q25.2	drug response
NM_001008503.3(OPRM1):c.1165-147C>T	single nucleotide variant	Tramadol response [RCV001028987]	Chr6:154246546 [GRCh38] Chr6:154567680 [GRCh37] Chr6:6q25.2	drug response
GRCh37/hg19 6q25.2(chr6:154240326-154902834)x3	copy number gain	not provided [RCV001005860]	Chr6:154240326..154902834 [GRCh37] Chr6:6q25.2	uncertain significance
GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	copy number gain	not provided [RCV001258753]	Chr6:151472860..154839846 [GRCh37] Chr6:6q25.1-25.2	likely pathogenic
GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1	copy number loss	not provided [RCV001834309]	Chr6:153584880..157203309 [GRCh37] Chr6:6q25.2-25.3	pathogenic
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	copy number loss	not specified [RCV002053640]	Chr6:153207930..164322346 [GRCh37] Chr6:6q25.2-26	pathogenic
GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	copy number loss	not specified [RCV002053641]	Chr6:153647248..158255989 [GRCh37] Chr6:6q25.2-25.3	pathogenic
GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	copy number loss	not specified [RCV002053639]	Chr6:153180239..156377315 [GRCh37] Chr6:6q25.2-25.3	uncertain significance
NM_001130700.2(IPCEF1):c.436A>T (p.Thr146Ser)	single nucleotide variant	not specified [RCV004237489]	Chr6:154214233 [GRCh38] Chr6:154535367 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.421A>C (p.Ile141Leu)	single nucleotide variant	not specified [RCV004231250]	Chr6:154214248 [GRCh38] Chr6:154535382 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.923T>G (p.Val308Gly)	single nucleotide variant	not specified [RCV004150850]	Chr6:154168101 [GRCh38] Chr6:154489236 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.1312A>G (p.Ile438Val)	single nucleotide variant	not specified [RCV004206371]	Chr6:154159833 [GRCh38] Chr6:154480968 [GRCh37] Chr6:6q25.2	uncertain significance
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	copy number loss	Coffin-Siris syndrome 1 [RCV003327723]	Chr6:150905553..158511926 [GRCh38] Chr6:6q25.1-25.3	pathogenic
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	copy number gain	not specified [RCV003986631]	Chr6:119840686..156623091 [GRCh37] Chr6:6q22.31-25.3	pathogenic
NC_000006.12:g.(?_150381239)_(159553952_?)del	deletion	Chromosome 6q24-q25 deletion syndrome [RCV003884000]	Chr6:150381239..159553952 [GRCh38] Chr6:6q25.1-25.3	pathogenic
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	copy number loss	See cases [RCV004442824]	Chr6:152853218..170914297 [GRCh37] Chr6:6q25.2-27	pathogenic
NM_001130700.2(IPCEF1):c.719C>T (p.Thr240Met)	single nucleotide variant	not specified [RCV004630913]	Chr6:154199859 [GRCh38] Chr6:154520993 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.783C>A (p.Asn261Lys)	single nucleotide variant	not specified [RCV004626432]	Chr6:154199795 [GRCh38] Chr6:154520929 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.508C>G (p.Pro170Ala)	single nucleotide variant	not specified [RCV004630914]	Chr6:154212799 [GRCh38] Chr6:154533933 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.1080C>G (p.Ile360Met)	single nucleotide variant	not specified [RCV004630917]	Chr6:154167944 [GRCh38] Chr6:154489079 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.610A>G (p.Thr204Ala)	single nucleotide variant	not specified [RCV004630916]	Chr6:154199968 [GRCh38] Chr6:154521102 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.509C>T (p.Pro170Leu)	single nucleotide variant	not specified [RCV004630912]	Chr6:154212798 [GRCh38] Chr6:154533932 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.1007C>T (p.Thr336Ile)	single nucleotide variant	not specified [RCV004931918]	Chr6:154168017 [GRCh38] Chr6:154489152 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.425A>G (p.His142Arg)	single nucleotide variant	not specified [RCV004931922]	Chr6:154214244 [GRCh38] Chr6:154535378 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.321T>G (p.His107Gln)	single nucleotide variant	not specified [RCV004931919]	Chr6:154221328 [GRCh38] Chr6:154542462 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.790G>A (p.Val264Ile)	single nucleotide variant	not specified [RCV004931920]	Chr6:154199788 [GRCh38] Chr6:154520922 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.1151C>T (p.Pro384Leu)	single nucleotide variant	not specified [RCV004931921]	Chr6:154159994 [GRCh38] Chr6:154481129 [GRCh37] Chr6:6q25.2	uncertain significance
NM_001130700.2(IPCEF1):c.1063G>A (p.Glu355Lys)	single nucleotide variant	not specified [RCV004931923]	Chr6:154167961 [GRCh38] Chr6:154489096 [GRCh37] Chr6:6q25.2	uncertain significance
GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3	copy number gain	not provided [RCV004819303]	Chr6:144561123..170919482 [GRCh37] Chr6:6q24.2-27	pathogenic
GRCh37/hg19 6q25.2-27(chr6:153777725-170919482)x1	copy number loss	not provided [RCV004819349]	Chr6:153777725..170919482 [GRCh37] Chr6:6q25.2-27	pathogenic
NM_001130700.2(IPCEF1):c.517G>A (p.Ala173Thr)	single nucleotide variant	not specified [RCV004626431]	Chr6:154212790 [GRCh38] Chr6:154533924 [GRCh37] Chr6:6q25.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3324
Count of miRNA genes:	773
Interacting mature miRNAs:	898
Transcripts:	ENST00000418388, ENST00000447934, ENST00000448040, ENST00000557985, ENST00000561457
Prediction methods:	Microtar, 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.

STS-T50077

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	139,006,454 - 139,006,645	UniSTS	GRCh37
Build 36	9	138,146,275 - 138,146,466	RGD	NCBI36
Celera	9	109,524,682 - 109,524,873	RGD
Cytogenetic Map	9	q34.3	UniSTS
HuRef	9	108,469,399 - 108,469,590	UniSTS
GeneMap99-GB4 RH Map	9	419.63	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	2253	4973	1726	2351	6	624	1948	465	2269	7303	6469	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001256526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_134506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054364145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007061370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007061371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK023162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC021231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC084549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC092490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA203953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA685158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000418388 ⟹ ENSP00000453019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,114,589 - 136,118,875 (-)	Ensembl

Ensembl Acc Id:

ENST00000447934 ⟹ ENSP00000455849

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,116,786 - 136,118,274 (-)	Ensembl

Ensembl Acc Id:

ENST00000448040 ⟹ ENSP00000458020

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,116,804 - 136,118,438 (-)	Ensembl

Ensembl Acc Id:

ENST00000557985 ⟹ ENSP00000457272

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,114,589 - 136,118,534 (-)	Ensembl

Ensembl Acc Id:

ENST00000561457 ⟹ ENSP00000452750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,114,581 - 136,118,431 (-)	Ensembl

RefSeq Acc Id:

NM_001256526 ⟹ NP_001243455

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,438 (-)	NCBI
GRCh37	9	139,006,427 - 139,010,731 (-)	NCBI
HuRef	9	108,469,372 - 108,473,646 (-)	NCBI
CHM1_1	9	139,154,725 - 139,158,575 (-)	NCBI
T2T-CHM13v2.0	9	148,343,992 - 148,347,841 (-)	NCBI

Sequence:

show sequence

GCAACGCGCGGCGCGGGACCCGGAAGTGGCTCCGGCAGGGGCTCTGCAGCCAGGGGGCCCGGCGCGGCGCGGCGCAGGCCCGGTGCTCACGCGGAGTTGGCCGGGGCCCGTTGCGTCTCTGCGGCCCC
GAGGAAACAGTCCTGGGTCCATGGGCCGGGCCGAGCGGGCGTCTGCAGAAACGCAGGGACCCGGATGGAGCCGCGGGCCGCGAGACCCTGCGGGGACACAGCTCCGCCGAGTCGCGTTTGAGTGGCAC
CGCCATGGCCGGGGTCCCGGCCGGGGCGAGCTCCAGGCCAAGGCCGGCCTTAAATAGGGCCGCTCTGGCCCCTGCACCCCGTGGAGGAGCCGGGCGGAGGGAGAGGGCGAGGCCGACGCCTCCCCCCA
GGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCCCTACGCCAACAGCCGCCTGGACACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGCCCAATGCCGGTCATGCCCATTCCG
CGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCCTGCATGCGGCCTGCGGGCCCGTGCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGACGTGTACATCAAGACGCGCTGGCT
GTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGCCTGTTCACTGCGGCGCTCTGGGGTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTCGCGTCCTGCTGCGCTTCCAGCGCA
AGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGTGGACTTCCGCCTGGTGAACGAGCTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGGGGCCTGGGCTGGTGCTTCATGGTC
TTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTATCGTCCCGGCCTGTGGCTGTGTTCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCATCCCCCAGGCAGTCGCTGCTGCCC
GGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTGATGGGGGCGCGGACACCACCCCTAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCAGGGGCAGCGCCCACCTGCCGGTGG
CTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGCCCTCCGTTCCGCCTCTCTGTGGGCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCACCCTGGGAGGCCCCTGGACACAGA
GGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCCTGGCTGCACAGCCCCTTCTGCGTGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCCCCTCGCTGACACACCACACTGCCA
CAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGCACTGCCCGCGGACCACCCTGTGTGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCCAGCCTTCAGGGTCCCCTTGGATTG
TGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGGTGGGAGGGGCCTCAGCAGGCTCCCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGGGCTGACTCCAGCAACACTGGCCTG
TCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGATGCTCTGGATTTCTGCGGAGGCACCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGGGCCTCTTTCTTTGAGGGAACACCG
TCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGGATGGAAACGCGTGTCCCAAGTGTCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCCCCAGAGCCTGTGTGGCACCAGCAG
CATCTTAGAGCCCCAGGTATATGCTGAGATCTTATCTCACGCTGTCCTCCAGTGTCTGGGGGGCCCAAATGATGGCACAGGGGCAGGTGGGCTGGAGGGGCGCAGATGCCTGTGTTCAGGGAGGGTGG
CCACCATGGGCCGAGGTCTCACCCAGGACCCCTTGCTCTGCTCCTCAGCCTTGCAGTCACGGCAGCACTATGGTGGACTGCCCATGGCCGTGTGACTTTGGGGGCAAGTGGGAGGGCGCCCTGAATAA
TGATTGCAAGGACAACAGGCAGAGGCTACCCTAGAGCAGGACACAGGGTGTGGTACTGACAACCCTAGTGTCACCTCAAATCCATGTCCCCACACTCTGGGCATGGGTGGGACTTGTGACCCTACCCT
GTCAGGCGGACCAGTGGCCCAGGAGCCATGAGGACAGTTGTGTGCCACTGGAAGAGAAACTTTTTGAAAAACCCTAAATCAGGTAGAGAAAGCAAAAAATCTCTGGCCGTAAACCGTGCTCTCTAATT
TATCGGCAGCTTCTGTGGATGACCTCTGATGAGCCCGGGCTGCGTCCACGCCCTGGGCAGGTAGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGAGAATCTTTTGCACTAAGTCATGCT
GTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACGTATTACTCAGAGTCACCCAAGCCTCTTGGCTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGGTGCCGCTCGTGCGGTGTCAACGCT
GCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAGCACCTGGCCGCCTGCTGTCCCCGGTGCCTGTGAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATTTTTTTAATGTG

hide sequence

RefSeq Acc Id:

NM_152833 ⟹ NP_690046

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,875 (-)	NCBI
GRCh37	9	139,006,427 - 139,010,731 (-)	RGD
Build 36	9	138,146,248 - 138,150,552 (-)	NCBI Archive
Celera	9	109,524,655 - 109,528,958 (-)	RGD
HuRef	9	108,469,372 - 108,473,646 (-)	RGD
CHM1_1	9	139,154,725 - 139,159,029 (-)	NCBI
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	NCBI

Sequence:

show sequence

ACGCACGCCCTCGGGAAGCGACGAGTCCGGGACGCCCAGCGCGGGCCCGGAGCAGGGGGAAGGGAAGTGCGGCTCGGTCGGCGCGGGTGGAGGGGGCGTGAGGCCGCCCTACGGTGGCCGTCGAGGGA
CGGCGCTACGGCTCCCACGCTAGGCCAAACGCCTCCGGCGGCCGCGCCCGAGAGCCCCTTCACCTGCAGGGCGACCCCAGCCGGCGACGCGTGAACCACGCCCTCAGCCGCCTTGCCAGCGCCCCCAG
CCGCGCGCCCCAGCACCATGCGGCCGCCCTGCGCACGGAGCCCCGAGGGACAGGGGCACCCGCAGGCCCGGCCCCTAGCACCGCCGGCCGGCCCCGAGGTCCGGGACGCCGGCGCCGCCGCGGAGAGG
GCACCGGGCCGACGCCTCCCCCCAGGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCCCTACGCCAACAGCCGCCTGGACACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGC
CCAATGCCGGTCATGCCCATTCCGCGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCCTGCATGCGGCCTGCGGGCCCGTGCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGA
CGTGTACATCAAGACGCGCTGGCTGTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGCCTGTTCACTGCGGCGCTCTGGGGTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTC
GCGTCCTGCTGCGCTTCCAGCGCAAGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGTGGACTTCCGCCTGGTGAACGAGCTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGG
GGCCTGGGCTGGTGCTTCATGGTCTTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTATCGTCCCGGCCTGTGGCTGTGTTCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCA
TCCCCCAGGCAGTCGCTGCTGCCCGGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTGATGGGGGCGCGGACACCACCCCTAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCA
GGGGCAGCGCCCACCTGCCGGTGGCTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGCCCTCCGTTCCGCCTCTCTGTGGGCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCA
CCCTGGGAGGCCCCTGGACACAGAGGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCCTGGCTGCACAGCCCCTTCTGCGTGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCC
CCTCGCTGACACACCACACTGCCACAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGCACTGCCCGCGGACCACCCTGTGTGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCC
AGCCTTCAGGGTCCCCTTGGATTGTGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGGTGGGAGGGGCCTCAGCAGGCTCCCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGG
GCTGACTCCAGCAACACTGGCCTGTCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGATGCTCTGGATTTCTGCGGAGGCACCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGG
GCCTCTTTCTTTGAGGGAACACCGTCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGGATGGAAACGCGTGTCCCAAGTGTCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCC
CCAGAGCCTGTGTGGCACCAGCAGCATCTTAGAGCCCCAGGTATATGCTGAGATCTTATCTCACGCTGTCCTCCAGTGTCTGGGGGGCCCAAATGATGGCACAGGGGCAGGTGGGCTGGAGGGGCGCA
GATGCCTGTGTTCAGGGAGGGTGGCCACCATGGGCCGAGGTCTCACCCAGGACCCCTTGCTCTGCTCCTCAGCCTTGCAGTCACGGCAGCACTATGGTGGACTGCCCATGGCCGTGTGACTTTGGGGG
CAAGTGGGAGGGCGCCCTGAATAATGATTGCAAGGACAACAGGCAGAGGCTACCCTAGAGCAGGACACAGGGTGTGGTACTGACAACCCTAGTGTCACCTCAAATCCATGTCCCCACACTCTGGGCAT
GGGTGGGACTTGTGACCCTACCCTGTCAGGCGGACCAGTGGCCCAGGAGCCATGAGGACAGTTGTGTGCCACTGGAAGAGAAACTTTTTGAAAAACCCTAAATCAGGTAGAGAAAGCAAAAAATCTCT
GGCCGTAAACCGTGCTCTCTAATTTATCGGCAGCTTCTGTGGATGACCTCTGATGAGCCCGGGCTGCGTCCACGCCCTGGGCAGGTAGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGA
GAATCTTTTGCACTAAGTCATGCTGTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACGTATTACTCAGAGTCACCCAAGCCTCTTGGCTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGG
TGCCGCTCGTGCGGTGTCAACGCTGCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAGCACCTGGCCGCCTGCTGTCCCCGGTGCCTGTGAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATT
TTTTTAATGTG

hide sequence

RefSeq Acc Id:

NR_134506

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,875 (-)	NCBI
CHM1_1	9	139,154,725 - 139,159,027 (-)	NCBI
T2T-CHM13v2.0	9	148,343,992 - 148,348,278 (-)	NCBI

Sequence:

show sequence

ACGCACGCCCTCGGGAAGCGACGAGTCCGGGACGCCCAGCGCGGGCCCGGAGCAGGGGGAAGGG
AAGTGCGGCTCGGTCGGCGCGGGTGGAGGGGGCGTGAGGCCGCCCTACGGTGGCCGTCGAGGGACGGCGCTACGGCTCCCACGCTAGGCCAAACGCCTCCGGCGGCCGCGCCCGAGAGCCCCTTCACC
TGCAGGGCGACCCCAGCCGGCGACGCGTGAACCACGCCCTCAGCCGCCTTGCCAGCGCCCCCAGCCGCGCGCCCCAGCACCATGCGGCCGCCCTGCGCACGGAGCCCCGAGGGACAGGGGCACCCGCA
GGCCCGGCCCCTAGCACCGCCGGCCGGCCCCGAGGTCCGGGACGCCGGCGCCGCCGCGGAGAGGGCACCGGGCCGACGCCTCCCCCCAGGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCC
CTACGCCAACAGCCGCCTGGACACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGCCCAATGCCGGTCATGCCCATTCCGCGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCC
TGCATGCGGCCTGCGGGCCCGTGCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGACGTGTACATCAAGACGCGCTGGCTGTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGC
CTGTTCACTGCGGCGCTCTGGGGTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTCGCGTCCTGCTGCGCTTCCAGCGCAAGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGT
GGACTTCCGCCTGGTGAACGAGCTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGGGGCCTGGGCTGGTGCTTCATGGTCTTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTA
TCGTCCCGGCCTGTGGCTGTGTTCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCATCCCCCAGGCAGTCGCTGCTGCCCGGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTG
ATGGGGGCGCGGACACCACCCCTAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCAGGGGCAGCGCCCACCTGCCGGTGGCTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGC
CCTCCGTTCCGCCTCTCTGTGGGCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCACCCTGGGAGGCCCCTGGACACAGAGGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCC
TGGCTGCACAGCCCCTTCTGCGTGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCCCCTCGCTGACACACCACACTGCCACAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGC
ACTGCCCGCGGACCACCCTGTGTGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCCAGCCTTCAGGGTCCCCTTGGATTGTGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGG
TGGGAGGGGCCTCAGCAGGCTCCCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGGGCTGACTCCAGCAACACTGGCCTGTCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGAT
GCTCTGGATTTCTGCGGAGGCACCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGGGCCTCTTTCTTTGAGGGAACACCGTCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGG
ATGGAAACGCGTGTCCCAAGTGTCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCCCCAGAGCCTGTGTGGCACCAGCAGCATCTTAGAGCCCCAGCTTCTGTGGATGACCTCTGATGAG
CCCGGGCTGCGTCCACGCCCTGGGCAGGTAGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGAGAATCTTTTGCACTAAGTCATGCTGTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACG
TATTACTCAGAGTCACCCAAGCCTCTTGGCTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGGTGCCGCTCGTGCGGTGTCAACGCTGCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAG
CACCTGGCCGCCTGCTGTCCCCGGTGCCTGTGAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATTTTTTTAATGTG

hide sequence

RefSeq Acc Id:

XM_024447712 ⟹ XP_024303480

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,439 (-)	NCBI

Sequence:

show sequence

GCGGGACCCGGAAGTGGCTCCGGCAGGGGCTCTGCAGCCAGGGGGCCCGGCGCGGCGCGGCGCAGGCCCGGTGCTCACGCGGAGTTGGCCGGGGCCCGTTGCGTCTCTGCGGCCCCGAGGAAACAGTC
CTGGGTCCATGGGCCGGGCCGAGCGGGCGTCTGCAGAAACGCAGGGACCCGGATGGAGCCGCGGGCCGCGAGACCCTGCGGGGACACAGCTCCGCCGAGTCGCGTTTGAGTGGCACCGCCATGGCCGG
GGTCCCGGCCGGGGCGAGCTCCAGGCCAAGGCCGGCCTTAAATAGGGCCGCTCTGGCCCCTGCACCCCGTGGAGGAGCCGGGCGGAGGGAGAGGGCGAGGTCGGGCCCCTGCGGGCACGGGAGGGTCA
GGCGGCCCCGGCCCCTCCCTCCTCCGCCCTGGCCAGGTCCCCACGGCAGGGCCCCAGGCTGAATCTGAAGGCAGGCGAAGCTCTTGGCAACAGTCCCCTGTAATGTTACCAACTTTCCTGCTCAGATT
TTATTTCCTGACCTTTGAGTTCATTCCGTCTACAGATTATTTCGGCAAGGCCGACGCCTCCCCCCAGGGTCAGCTGCGGGCTCCCAGGCCTAGGCGCCCATGACCCCTACGCCAACAGCCGCCTGGAC
ACCGCCGCCGCCACTGCGACCTAGCGCCGCCGCCGCCGGGGCCCAATGCCGGTCATGCCCATTCCGCGGCGGGTGCGCTCCTTCCACGGCCCGCACACCACCTGCCTGCATGCGGCCTGCGGGCCCGT
GCGCGCCTCCCACCTGGCCCGCACCAAGTACAACAACTTCGACGTGTACATCAAGACGCGCTGGCTGTACGGCTTCATCCGCTTCCTACTCTACTTTAGCTGCAGCCTGTTCACTGCGGCGCTCTGGG
GTGCGCTGGCCGCCCTCTTCTGCCTACAGTACCTGGGCGTTCGCGTCCTGCTGCGCTTCCAGCGCAAGCTGTCGGTGCTGCTGCTGCTGCTGGGCCGCCGGCGCGTGGACTTCCGCCTGGTGAACGAG
CTGCTCGTCTATGGCATCCACGTCACCATGCTGCTGGTCGGGGGCCTGGGCTGGTGCTTCATGGTCTTCGTGGACATGTGAGGGCCGTGGGTGCGAGCTTGATGTATCGTCCCGGCCTGTGGCTGTGT
TCTCTCCATGGGTGGGGTCGGCCAGCGCCTTCCCTTCGCCCATCCCCCAGGCAGTCGCTGCTGCCCGGCGCCCACGGAGAGAAAAGAAAGGGCTGAGACTTCTGTGATGGGGGCGCGGACACCACCCC
TAGGCTGGCTTCCTGGACCCACCCTCCCCGTATGCACTCTCAGGGGCAGCGCCCACCTGCCGGTGGCTCCTGCTCACATGTCTTCGGGTCGTACTGCGGGGTGGGCCCTCCGTTCCGCCTCTCTGTGG
GCCTCTCTCCAGGACCACAGCTGCCAGGGACTTTAGACATCACCCTGGGAGGCCCCTGGACACAGAGGGCTGTGTGCCCAGGAGCAATTCCGGAGGGGGGCCCTCCTGGCTGCACAGCCCCTTCTGCG
TGCCCTGGCCCCAGCCCCAGCCAACGGGACACGGAAGGCTCCCCTCGCTGACACACCACACTGCCACAAAGCTGCTTACTCTGCCCTGGGCCGCCTGAGGCCTGGCACTGCCCGCGGACCACCCTGTG
TGTGTCATCCTGAGGGGCTGTGTGGGTCCTGAGTCCCCAGCCAGCCTTCAGGGTCCCCTTGGATTGTGTAGATGCAGTCTAGCGGGGGGCCGGAGAAGGGCTCAGGTGGGAGGGGCCTCAGCAGGCTC
CCAGCTCAGGGGCTGGCCTGGGGGGAACCCTGGGAGCCAGGGGCTGACTCCAGCAACACTGGCCTGTCTGCCTGTTCTGGGAGGGCTGTGAGGATGTCTTGCAGATGCTCTGGATTTCTGCGGAGGCA
CCTCCATTCCTTTCTGGCTTTTTTTGCGGGGGAGGGCTTTGGGCCTCTTTCTTTGAGGGAACACCGTCAAAGAAAGCCTGGGAGATCGAGGCTTCAGTGAGCCAGGATGGAAACGCGTGTCCCAAGTG
TCCGGAGCAGGCGGCAGAGGCCTCAGTGCGGCAAACACAGCCCCAGAGCCTGTGTGGCACCAGCAGCATCTTAGAGCCCCAGGTATATGCTGAGATCTTATCTCACGCTGTCCTCCAGTGTCTGGGGG
GCCCAAATGATGGCACAGGGGCAGGTGGGCTGGAGGGGCGCAGATGCCTGTGTTCAGGGAGGGTGGCCACCATGGGCCGAGGTCTCACCCAGGACCCCTTGCTCTGCTCCTCAGCCTTGCAGTCACGG
CAGCACTATGGTGGACTGCCCATGGCCGTGTGACTTTGGGGGCAAGTGGGAGGGCGCCCTGAATAATGATTGCAAGGACAACAGGCAGAGGCTACCCTAGAGCAGGACACAGGGTGTGGTACTGACAA
CCCTAGTGTCACCTCAAATCCATGTCCCCACACTCTGGGCATGGGTGGGACTTGTGACCCTACCCTGTCAGGCGGACCAGTGGCCCAGGAGCCATGAGGACAGTTGTGTGCCACTGGAAGAGAAACTT
TTTGAAAAACCCTAAATCAGGTAGAGAAAGCAAAAAATCTCTGGCCGTAAACCGTGCTCTCTAATTTATCGGCAGCTTCTGTGGATGACCTCTGATGAGCCCGGGCTGCGTCCACGCCCTGGGCAGGT
AGGCGGGAGCTTCCCTGCGTGGGCCTCATTTCTTGCTGCAGAGAATCTTTTGCACTAAGTCATGCTGTTTCCTCAAAGAAGCTTTGTTTTTTGTTAACGTATTACTCAGAGTCACCCAAGCCTCTTGG
CTGAGGGTGAAGGTGGGACGGGAGGCGGGAGGGGGCTGGTGGTGCCGCTCGTGCGGTGTCAACGCTGCAGGGAGTTGTGGCACCTTGGTGCCCTCTGAGCACCTGGCCGCCTGCTGTCCCCGGTGCCT
GTGAAATTCGTCATGCCATGACCCACCTGCATTAAACCTATTTTTTTAATGTGTTGATGGA

hide sequence

RefSeq Acc Id:

XM_054364145 ⟹ XP_054220120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	148,343,992 - 148,347,842 (-)	NCBI

RefSeq Acc Id:

XR_007061371

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,114,589 - 136,118,439 (-)	NCBI

RefSeq Acc Id:

XR_008488103

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	148,343,992 - 148,347,842 (-)	NCBI


Protein RefSeqs	NP_001243455	(Get FASTA)	NCBI Sequence Viewer
	NP_690046	(Get FASTA)	NCBI Sequence Viewer
	XP_024303480	(Get FASTA)	NCBI Sequence Viewer
	XP_054220120	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000452750
	ENSP00000452750.2
	ENSP00000453019
	ENSP00000453019.1
	ENSP00000457272.1
GenBank Protein	H0YL14	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_690046 ⟸ NM_152833
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVMPIPRRVRSFHGPHTTCLHAACGPVRASHLARTKYNNFDVYIKTRWLYGFIRFLLYFSCSLFTAALWGALAALFCLQYLGVRVLLRFQRKLSVLLLLLGRRRVDFRLVNELLVYGIHVTMLLVGG LGWCFMVFVDM hide sequence

RefSeq Acc Id:	NP_001243455 ⟸ NM_001256526
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVMPIPRRVRSFHGPHTTCLHAACGPVRASHLARTKYNNFDVYIKTRWLYGFIRFLLYFSCSL FTAALWGALAALFCLQYLGVRVLLRFQRKLSVLLLLLGRRRVDFRLVNELLVYGIHVTMLLVGGLGWCFMVFVDM hide sequence

RefSeq Acc Id:	XP_024303480 ⟸ XM_024447712
- Peptide Label:	isoform X1
- UniProtKB:	H0YL14 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVMPIPRRVRSFHGPHTTCLHAACGPVRASHLARTKYNNFDVYIKTRWLYGFIRFLLYFSCSLFTAALWGALAALFCLQYLGVRVLLRFQRKLSVLLLLLGRRRVDFRLVNELLVYGIHVTMLLVGG LGWCFMVFVDM hide sequence

Ensembl Acc Id:

ENSP00000457272 ⟸ ENST00000557985

Ensembl Acc Id:

ENSP00000453019 ⟸ ENST00000418388

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-H0YL14-F1-model_v2	AlphaFold	H0YL14	1-139	view protein structure

RGD ID:

7216625

Promoter ID:

EPDNEW_H14059

Type:

initiation region

Name:

C9orf69_2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14060

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,118,608 - 136,118,668	EPDNEW

RGD ID:

7216627

Promoter ID:

EPDNEW_H14060

Type:

initiation region

Name:

C9orf69_1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14059

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,118,875 - 136,118,935	EPDNEW

RGD ID:

6807337

Promoter ID:

HG_KWN:65568

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000055044

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	138,147,026 - 138,148,427 (-)	MPROMDB

RGD ID:

6808385

Promoter ID:

HG_KWN:65569

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_152833, OTTHUMT00000055042, OTTHUMT00000055045, UC004CGY.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	138,149,536 - 138,151,322 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	TMEM250	COSMIC
Ensembl Genes	ENSG00000238227	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000418388	ENTREZGENE
	ENST00000418388.6	UniProtKB/Swiss-Prot
	ENST00000557985.2	UniProtKB/Swiss-Prot
	ENST00000561457	ENTREZGENE
	ENST00000561457.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000238227	GTEx
HGNC ID	HGNC:31009	ENTREZGENE
Human Proteome Map	TMEM250	Human Proteome Map
InterPro	DUF5533	UniProtKB/Swiss-Prot
KEGG Report	hsa:90120	UniProtKB/Swiss-Prot
NCBI Gene	TMEM250	ENTREZGENE
PANTHER	TRANSMEMBRANE PROTEIN 250	UniProtKB/Swiss-Prot
	TRANSMEMBRANE PROTEIN 250	UniProtKB/Swiss-Prot
Pfam	DUF5533	UniProtKB/Swiss-Prot
PharmGKB	PA134944430	PharmGKB
UniProt	H0YL14	ENTREZGENE
	H3BQM9_HUMAN	UniProtKB/TrEMBL
	H3BVA3_HUMAN	UniProtKB/TrEMBL
	TM250_HUMAN	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-14	TMEM250	transmembrane protein 250	C9orf69	chromosome 9 open reading frame 69	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
		Excel (Download)

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

Send us a Message

Imported Disease Annotations - ClinVar