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TMEM47 transmembrane protein 47 [ Homo sapiens (human) ]

Gene ID: 83604, updated on 11-Jun-2021

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
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
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Genomic context

See TMEM47 in Genome Data Viewer
Location:
Xp21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (34627075..34657285, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (34645192..34675402, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985674 Neighboring gene SRSF2 pseudogene 1 Neighboring gene family with sequence similarity 47 member B Neighboring gene MAGE family member B18 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of brain lesion distribution in multiple sclerosis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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.

mRNA and Protein(s)

  1. NM_031442.4NP_113630.1  transmembrane protein 47

    See identical proteins and their annotated locations for NP_113630.1

    Status: REVIEWED

    Source sequence(s)
    AL596285, BC039242, CX788638
    Consensus CDS
    CCDS14235.1
    UniProtKB/Swiss-Prot
    Q9BQJ4
    UniProtKB/TrEMBL
    A0A024RBY7
    Related
    ENSP00000275954.3, ENST00000275954.4
    Conserved Domains (1) summary
    cl21598
    Location:21170
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    34627075..34657285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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