TMEM47 transmembrane protein 47 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM47provided by HGNC
Official Full Name: transmembrane protein 47provided by HGNC
Primary source: HGNC:HGNC:18515
See related: Ensembl:ENSG00000147027 MIM:300698; AllianceGenome:HGNC:18515
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BCMP1; VAB-9; TM4SF10
Summary: This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 31.0), urinary bladder (RPKM 27.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (34627075..34657285, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (34221708..34251928, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (34645192..34675402, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of TMEM47 Induces Tamoxifen Resistance in Human Breast Cancer Cells.
Title: Overexpression of TMEM47 Induces Tamoxifen Resistance in Human Breast Cancer Cells.
Clinical significance and functional role of transmembrane protein 47 (TMEM47) in chemoresistance of hepatocellular carcinoma.
Title: Clinical significance and functional role of transmembrane protein 47 (TMEM47) in chemoresistance of hepatocellular carcinoma.
TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
TM4SF10, possibly through ADAP, may regulate Fyn activity
Title: TM4SF10 and ADAP interaction in podocytes: role in Fyn activity and nephrin phosphorylation.
Single nucleotide polymorphisms, but no disease-associated mutations, were identified in X-linked mental retardation patients.
Title: TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
A 4-transmembrane protein, related to PMP22/EMPs and the Claudins, localizes to the plasma membrane and the ER. The mRNA is present in high amounts in brain.
Title: Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of brain lesion distribution in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67914 (e-PCR)
- UniSTS:57613

SHGC-54257 (e-PCR)
- UniSTS:52507

DXS8190 (e-PCR)
- UniSTS:38480

STS-N41007 (e-PCR)
- UniSTS:81748

STS-T48038 (e-PCR)
- UniSTS:18374

SHGC-132877 (e-PCR)
- UniSTS:185051

Clone Names

FLJ18096, MGC32949, DKFZp564E153, DKFZp761J17121

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: transmembrane protein 47

Names: brain cell membrane protein 1; transmembrane 4 superfamily member 10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.