TMEM8B (transmembrane protein 8B)

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General
Array IDs

Gene: TMEM8B (transmembrane protein 8B) Homo sapiens

Symbol:

TMEM8B

Name:

transmembrane protein 8B

Description:

INVOLVED IN cell-matrix adhesion; FOUND IN cell surface; plasma membrane; INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog); valproic acid (ortholog)

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

C9orf127; MGC120460; NAG-5; nasopharyngeal carcinoma expressed 6; nasopharyngeal carcinoma related protein; nasopharyngeal carcinoma-associated gene 6 protein; NGX6; OTTHUMP00000021354; OTTHUMP00000021355; OTTHUMP00000021362; protein NAG-5; Protein NGX6; RP11-112J3.10; transmembrane protein 8B

Orthologs:

Mus musculus : Tmem8b (transmembrane protein 8B) MGI
Rattus norvegicus : Tmem8b (transmembrane protein 8B)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	9	35,797,092 - 35,822,823	+	NCBI
Human Genome Assembly HuRef	9	35,785,163 - 35,810,849	+	NCBI
Human Genome Assembly GRCh37	9	35,829,222 - 35,854,844	+	NCBI
Human Genome Assembly Build 36	9	35,819,222 - 35,844,844	+	NCBI
Human Cytogenetic Map	9	p13.3		NCBI

Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)

Annotation (Toggle Detail/Summary View)

Gene-Chemical Interaction Annotations

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
3,4-methylenedioxymethamphetamine	increases expression	ISO	RGD:1618941	6480464	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of TMEM8B mRNA	CTD	PMID:20188158
C60 fullerene	affects expression	ISO	RGD:1310012	6480464	fullerene C60 affects the expression of TMEM8B mRNA	CTD	PMID:19167457
valproic acid	affects expression	ISO	RGD:1618941	6480464	Valproic Acid affects the expression of TMEM8B mRNA	CTD	PMID:17963808

Gene Ontology Annotations

Biological Process

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
cell-matrix adhesion		IMP		2290271	PMID:15498789	HGNC	PMID:15498789
regulation of growth		IEA	UniProtKB-KW:KW-0341	2290271	GO_REF:0000037	UniProtKB	GO_REF:0000037
regulation of mitotic cell cycle		TAS		2290271	PMID:15498789	HGNC	PMID:15498789

Cellular Component

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
cell surface		IDA		2290271	PMID:15498789	HGNC	PMID:15498789
endoplasmic reticulum		IEA	UniProtKB-SubCell:SL-0095	2290271	GO_REF:0000039	UniProtKB	GO_REF:0000039
integral to membrane		IEA	UniProtKB-KW:KW-0812	2290271	GO_REF:0000037	UniProtKB	GO_REF:0000037
mitochondrion		IEA	UniProtKB-SubCell:SL-0173	2290271	GO_REF:0000039	UniProtKB	GO_REF:0000039
nucleus		IEA	UniProtKB-SubCell:SL-0191	2290271	GO_REF:0000039	UniProtKB	GO_REF:0000039
plasma membrane		IDA		2290271	PMID:15498789	HGNC	PMID:15498789

Molecular Function

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
protein binding		IPI	UniProtKB:P15311	2290271	PMID:15498789	HGNC	PMID:15498789

Gene-Chemical Interaction Annotations

	3,4-methylenedioxymethamphetamine (ISO)
	C60 fullerene (ISO)

valproic acid (ISO)

Gene Ontology Annotations

Biological Process

	cell-matrix adhesion (IMP)
	regulation of growth (IEA)

regulation of mitotic cell cycle (TAS)

Cellular Component

	cell surface (IDA)
	endoplasmic reticulum (IEA)
	integral to membrane (IEA)

	mitochondrion (IEA)
	nucleus (IEA)
	plasma membrane (IDA)

Molecular Function

protein binding (IPI)

References - curated

1.	RGD automated import pipeline for gene-chemical interactions

References - uncurated

PubMed	11565907
	12474055
	12477932
	12918109
	15164053
	15489334
	15498789
	15723283
	16713569
	17270023
	17641538
	19499154
	19755717
	20423473
	20543461
	20705583
	20859756
	21464545
	22647848
	23053953
	8619474
	9110174

RGD Disease Portals

TMEM8B has been annotated in the following RGD Disease Portals.

Biological Process

Genomics

Comparative Map Data

TMEM8B (Homo sapiens)

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	9	35,797,092 - 35,822,823	+	NCBI
Human Genome Assembly HuRef	9	35,785,163 - 35,810,849	+	NCBI
Human Genome Assembly GRCh37	9	35,829,222 - 35,854,844	+	NCBI
Human Genome Assembly Build 36	9	35,819,222 - 35,844,844	+	NCBI
Human Cytogenetic Map	9	p13.3		NCBI

Tmem8b (Mus musculus)

Map	Chr	Position	Strand	Source
Mouse Genome Assembly GRCm38	4	43,668,971 - 43,692,668	+	NCBI
Mouse cM Map	4		+	NCBI
Mouse Celera Assembly	4	43,703,576 - 43,727,192	+	NCBI
Mouse Genome Assembly Build 37	4	43,681,843 - 43,705,540	+	NCBI
Mouse Genome Assembly Build 36.1	4	43,689,777 - 43,713,768	+	NCBI
Mouse Cytogenetic Map	4	B1		NCBI

Tmem8b (Rattus norvegicus)

Map	Chr	Position	Strand	Source
Rat Cytogenetic Map	5	q22		NCBI
RGSC Genome Assembly v5.0	5	63,690,155 - 63,718,938	+	NCBI
RGSC Genome Assembly v3.4	5	60,146,431 - 60,173,161	+	NCBI
Rat Celera Assembly	5	56,500,100 - 56,528,796	+	NCBI
Genome Assembly 3.1	5	60,146,190 - 60,172,805	+	NCBI

Position Markers

RH103949

Map	Chr	Position	Source
Human GeneMap99-GB4 RH Map	9	157.64	UniSTS
Human Genome Assembly HuRef	9	35,810,194 - 35,810,354	UniSTS
Human Genome Assembly GRCh37	9	35,854,189 - 35,854,349	UniSTS
Human Celera Assembly	9	35,787,724 - 35,787,884	RGD
Human Genome Assembly Build 36	9	35,844,189 - 35,844,349	RGD
Human Cytogenetic Map	9	p13.3	UniSTS

RH11958

Map	Chr	Position	Source
Human GeneMap99-GB4 RH Map	9	155.72	UniSTS
Human Genome Assembly HuRef	9	35,802,955 - 35,803,101	UniSTS
Human Genome Assembly GRCh37	9	35,846,951 - 35,847,097	UniSTS
Human Celera Assembly	9	35,780,486 - 35,780,632	RGD
Human Genome Assembly Build 36	9	35,836,951 - 35,837,097	RGD
Human Cytogenetic Map	9	p13.3	UniSTS

D9S1165

Map	Chr	Position	Source
Human Genome Assembly HuRef	9	35,784,121 - 35,784,634	UniSTS
Human Genome Assembly GRCh37	9	35,828,181 - 35,828,693	UniSTS
Human Celera Assembly	9	35,761,713 - 35,762,225	RGD
Human Genome Assembly Build 36	9	35,818,181 - 35,818,693	RGD
Human Cytogenetic Map	9	p13.3	UniSTS

MARC_12861-12862:1000493489:1

Map	Chr	Position	Source
Human Genome Assembly HuRef	9	35,790,540 - 35,791,177	UniSTS
Human Genome Assembly GRCh37	9	35,834,536 - 35,835,173	UniSTS
Human Celera Assembly	9	35,768,071 - 35,768,708	RGD
Human Genome Assembly Build 36	9	35,824,536 - 35,825,173	RGD

QTLs in Region (Human Genome Assembly GRCh37)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1558689	SCL2_H	Serum cholesterol level QTL 2 (human)	2.4		Lipid level	HDL cholesterol	9	31925500	90290742	Human
1558712	SCL1_H	Serum cholesterol level QTL 1 (human)	3.4	.00004	Lipid level	HDL cholesterol	9	12975149	37222493	Human
1643306	BW230_H	Body weight QTL 230 (human)	1.18		Body weight	body mass index	9	18925421	44925421	Human
2292860	PRSTS32_H	Prostate tumor susceptibility QTL 32 (human)			Prostate tumor susceptibility		9	18925421	44925421	Human
2314568	GLUCO38_H	Glucose level QTL 38 (human)	1.9	.00156	Glucose level		9	20859756	46859756	Human
2316055	GLUCO207_H	Glucose level QTL 207 (human)		.000119	Glucose level		9	11534298	37534298	Human

Sequence

Nucleotide Sequences

Nucleotide RefSeqs	NM_001042589	(Get FASTA)	Search GEO for Microarray Profiles
	NM_001042590	(Get FASTA)	Search GEO for Microarray Profiles
	NM_016446	(Get FASTA)	Search GEO for Microarray Profiles
GenBank Nucleotide	ABBA01064982	(Get FASTA)	Search GEO for Microarray Profiles
	ABBA01064983	(Get FASTA)	Search GEO for Microarray Profiles
	AF070572	(Get FASTA)	Search GEO for Microarray Profiles
	AF188239	(Get FASTA)	Search GEO for Microarray Profiles
	AK074844	(Get FASTA)	Search GEO for Microarray Profiles
	AL133410	(Get FASTA)	Search GEO for Microarray Profiles
	AMYH01019347	(Get FASTA)	Search GEO for Microarray Profiles
	BC041377	(Get FASTA)	Search GEO for Microarray Profiles
	BC043384	(Get FASTA)	Search GEO for Microarray Profiles
	BC064951	(Get FASTA)	Search GEO for Microarray Profiles
	BC082765	(Get FASTA)	Search GEO for Microarray Profiles
	BC098265	(Get FASTA)	Search GEO for Microarray Profiles
	BC098296	(Get FASTA)	Search GEO for Microarray Profiles
	BC099733	(Get FASTA)	Search GEO for Microarray Profiles
	CH471071	(Get FASTA)	Search GEO for Microarray Profiles
	CQ783981	(Get FASTA)	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

NM_016446

RefSeq Status:

VALIDATED

Type:

CODING

Protein Acc Id:

NP_057530

Peptide Label:

isoform b

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	9	35,797,092 - 35,822,823	+	NCBI
Human Genome Assembly HuRef	9	35,785,163 - 35,810,849	+	ENTREZGENE
Human Genome Assembly GRCh37	9	35,829,222 - 35,854,844	+	ENTREZGENE
Human Genome Assembly Build 36	9	35,819,222 - 35,837,232	+	NCBI Archive

RefSeq Acc Id:

NM_001042589

RefSeq Status:

VALIDATED

Type:

CODING

Protein Acc Id:

NP_001036054

Peptide Label:

isoform a

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	9	35,797,092 - 35,822,823	+	NCBI
Human Genome Assembly HuRef	9	35,785,163 - 35,810,849	+	ENTREZGENE
Human Genome Assembly GRCh37	9	35,829,222 - 35,854,844	+	ENTREZGENE
Human Genome Assembly Build 36	9	35,819,229 - 35,844,844	+	NCBI Archive

RefSeq Acc Id:

NM_001042590

RefSeq Status:

VALIDATED

Type:

CODING

Protein Acc Id:

NP_001036055

Peptide Label:

isoform a

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	9	35,797,092 - 35,822,823	+	NCBI
Human Genome Assembly HuRef	9	35,785,163 - 35,810,849	+	ENTREZGENE
Human Genome Assembly GRCh37	9	35,829,222 - 35,854,844	+	ENTREZGENE
Human Genome Assembly Build 36	9	35,819,513 - 35,844,844	+	NCBI Archive

Protein Sequences

Protein RefSeqs	NP_001036054	(Get FASTA)
	NP_001036055	(Get FASTA)
	NP_057530	(Get FASTA)
GenBank Protein	A6NDV4	(Get FASTA)
	AAC28644	(Get FASTA)
	AAG29055	(Get FASTA)
	AAH98265	(Get FASTA)
	AAH98296	(Get FASTA)
	AAH99733	(Get FASTA)
	BAG52015	(Get FASTA)
	CAF86955	(Get FASTA)
	EAW58325	(Get FASTA)
	EAW58326	(Get FASTA)
	EAW58327	(Get FASTA)
	EAW58328	(Get FASTA)

Promoters

RGD ID:

6807317

Promoter ID:

HG_KWN:63121

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:

ENST00000358856, ENST00000360192, ENST00000388950, NM_001012446, NM_001042589, NM_001042590, NM_016446, OTTHUMT00000052368, OTTHUMT00000052369, OTTHUMT00000052370, OTTHUMT00000052371, OTTHUMT00000052373, UC003ZYL.1, UC003ZYN.1

Position:

Map	Chr	Position	Strand	Source
Human Genome Assembly Build 36	9	35,818,641 - 35,819,752	+	MPROMDB

RGD ID:

7212521

Promoter ID:

EPDNEW_H12007

Type:

initiation region

Name:

TMEM8B_1

Description:

transmembrane protein 8B

SO ACC ID:

SO:0000170

Source:

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

Position:

Map	Chr	Position	Strand	Source
Human Genome Assembly Build 36	9	35,829,264 - 35,829,324		EPDNEW

RGD ID:

7212523

Promoter ID:

EPDNEW_H12008

Type:

initiation region

Name:

TMEM8B_2

Description:

transmembrane protein 8B

SO ACC ID:

SO:0000170

Source:

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

Position:

Map	Chr	Position	Strand	Source
Human Genome Assembly Build 36	9	35,829,505 - 35,829,565		EPDNEW

RGD ID:

6813754

Promoter ID:

HG_ACW:80244

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

C9ORF127.JAPR07

Position:

Map	Chr	Position	Strand	Source
Human Genome Assembly Build 36	9	35,835,776 - 35,836,276	+	MPROMDB

RGD ID:

6862516

Promoter ID:

EPDNEW_H4423

Type:

initiation region

Name:

MLPH_8

Description:

melanophilin

SO ACC ID:

SO:0000170

Source:

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

Position:

Map	Chr	Position	Strand	Source
Human Genome Assembly Build 36	2	238,449,056 - 238,449,116		EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	TMEM8B	COSMIC
Ensembl Genes	ENSG00000137103	ENTREZGENE
Ensembl Protein	ENSP00000367227	ENTREZGENE
	ENSP00000367230	ENTREZGENE
	ENSP00000395810	ENTREZGENE
Ensembl Transcript	ENST00000377988	ENTREZGENE
	ENST00000377991	ENTREZGENE
	ENST00000439587	ENTREZGENE
Entrez Gene	51754	ENTREZGENE
HGNC ID	21427	ENTREZGENE
HomoloGene Group ID	72894	ENTREZGENE
HPRD ID	16674	ENTREZGENE
InterPro	DUF3522	UniProtKB/Swiss-Prot
	EG-like_dom	UniProtKB/Swiss-Prot
	EGF-like_reg_CS	UniProtKB/Swiss-Prot
IPI	IPI00415061	UniProtKB/Swiss-Prot
	IPI00513780	UniProtKB/Swiss-Prot
	IPI00894263	UniProtKB/Swiss-Prot
KEGG Report	hsa:51754	ENTREZGENE, UniProtKB/Swiss-Prot
Pfam	DUF3522	UniProtKB/Swiss-Prot
PharmGKB	PA165586305	PharmGKB
PROSITE	EGF_1	UniProtKB/Swiss-Prot
	EGF_2	UniProtKB/Swiss-Prot
	EGF_3; FALSE_NEG	UniProtKB/Swiss-Prot
SMART	EGF	UniProtKB/Swiss-Prot
UniGene	Hs.493808	ENTREZGENE
UniProt	TMM8B_HUMAN	UniProtKB/Swiss-Prot

More on TMEM8B

Entrez Gene

Ensembl Gene

Genome Browser:

(hg18) (hg19)

RGD Object Information
RGD ID:	1320668
Created:	2005-01-12
Species:	Homo sapiens
Last Modified:	2013-04-16
Status:	ACTIVE