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TMEM50B transmembrane protein 50B [ Homo sapiens (human) ]

Gene ID: 757, updated on 13-Mar-2020

Summary

Official Symbol
TMEM50Bprovided by HGNC
Official Full Name
transmembrane protein 50Bprovided by HGNC
Primary source
HGNC:HGNC:1280
See related
Ensembl:ENSG00000142188 MIM:617894
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C21orf4; HCVP7TP3
Expression
Ubiquitous expression in thyroid (RPKM 53.6), gall bladder (RPKM 21.3) and 24 other tissues See more
Orthologs

Genomic context

See TMEM50B in Genome Data Viewer
Location:
21q22.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (33432486..33480009, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34804793..34852316, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene interleukin 10 receptor subunit beta Neighboring gene interferon alpha and beta receptor subunit 1 Neighboring gene upstream transcription factor 1 pseudogene 1 Neighboring gene interferon gamma receptor 2 Neighboring gene RPS5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28

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

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26146, DKFZp686C2482

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
late endosome to vacuole transport via multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane HDA PubMed 

General protein information

Preferred Names
transmembrane protein 50B
Names
HCV p7-trans-regulated protein 3
HCV p7-transregulated protein 3

NCBI Reference Sequences (RefSeq)

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_006134.7NP_006125.2  transmembrane protein 50B

    See identical proteins and their annotated locations for NP_006125.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.
    Source sequence(s)
    AL355685, BC000569, BF696480, DA286739
    Consensus CDS
    CCDS13625.1
    UniProtKB/Swiss-Prot
    P56557
    Related
    ENSP00000439768.2, ENST00000542230.7
    Conserved Domains (1) summary
    pfam05255
    Location:4157
    UPF0220; Uncharacterized protein family (UPF0220)

RNA

  1. NR_040016.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes several additional 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP000300, BX537378, DA286739

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    33432486..33480009 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529746.2XP_011528048.1  transmembrane protein 50B isoform X1

    See identical proteins and their annotated locations for XP_011528048.1

    UniProtKB/Swiss-Prot
    P56557
    Related
    ENSP00000397773.1, ENST00000420455.5
    Conserved Domains (1) summary
    pfam05255
    Location:4157
    UPF0220; Uncharacterized protein family (UPF0220)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315970.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    27058..84138 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_038211.1: Suppressed sequence

    Description
    NR_038211.1: This RefSeq was temporarily suppressed because it is 5'' partial compared to available transcript evidence.
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