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TMEM176A transmembrane protein 176A [ Homo sapiens (human) ]

Gene ID: 55365, updated on 12-Jun-2021

Summary

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Official Symbol
TMEM176Aprovided by HGNC
Official Full Name
transmembrane protein 176Aprovided by HGNC
Primary source
HGNC:HGNC:24930
See related
Ensembl:ENSG00000002933 MIM:610334
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
GS188; MS4B1; HCA112
Expression
Broad expression in liver (RPKM 172.7), kidney (RPKM 114.0) and 15 other tissues See more
Orthologs
mouse all
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Genomic context

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See TMEM176A in Genome Data Viewer
Location:
7q36.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (150800543..150805119)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150497857..150502206)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375566 Neighboring gene Bet1 golgi vesicular membrane trafficking protein pseudogene 1 Neighboring gene transmembrane protein 176B Neighboring gene uncharacterized LOC105375567 Neighboring gene amine oxidase copper containing 1 Neighboring gene Sharpr-MPRA regulatory region 11983

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Epigenetic silencing of TMEM176A activates ERK signaling in human hepatocellular carcinoma. Li H, et al. Clin Epigenetics, 2018 Nov 6. PMID 30400968, Free PMC Article
  2. Methylation of TMEM176A is an independent prognostic marker and is involved in human colorectal cancer development. Gao D, et al. Epigenetics, 2017 Jul 3. PMID 28678648, Free PMC Article
  3. TMEM176A and TMEM176B Are Candidate Regulators of Inhibition of Dendritic Cell Maturation and Function after Chronic Spinal Cord Injury. Picotto G, et al. J Neurotrauma, 2020 Feb 1. PMID 31354034, Free PMC Article
  4. Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance. Kos MZ, et al. Am J Med Genet B Neuropsychiatr Genet, 2017 Dec. PMID 28902459, Free PMC Article
  5. Abnormal accumulation of human transmembrane (TMEM)-176A and 176B proteins is associated with cancer pathology. Cuajungco MP, et al. Acta Histochem, 2012 Nov. PMID 22244448, Free PMC Article

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TMEM176A and TMEM176B Are Candidate Regulators of Inhibition of Dendritic Cell Maturation and Function after Chronic Spinal Cord Injury.
    Title: TMEM176A and TMEM176B Are Candidate Regulators of Inhibition of Dendritic Cell Maturation and Function after Chronic Spinal Cord Injury.
  2. The promoter region of TMEM176A is frequently methylated in human hepatocellular carcinoma (HCC), and the expression of TMEM176A is regulated by promoter region methylation. Methylation of the TMEM176A promoter may serve as a diagnostic and prognostic marker in HCC. TMEM176A suppresses HCC growth by inhibiting the ERK signaling pathway.
    Title: Epigenetic silencing of TMEM176A activates ERK signaling in human hepatocellular carcinoma.
  3. Single nucleotide polymorphism in TMEM176A gene is associated with schizophrenia risk loci with potential implications for neurocognitive performance.
    Title: Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.
  4. Expression of TMEM176A in colorectal cancer cells is regulated by promoter region methylation. Methylation of TMEM176A was associated with tumor metastasis and was an independent prognostic factor for 5-year overall survival.
    Title: Methylation of TMEM176A is an independent prognostic marker and is involved in human colorectal cancer development.
  5. Study characterized Tmem176a and b expression in RORgamma t+ lymphocytes at transcriptional and protein levels and present evidence that both genes exert a redundant ion channel function related to a colocalisation in close proximity to the Golgi apparatus.
    Title: RORγt+ cells selectively express redundant cation channels linked to the Golgi apparatus.
  6. human TMEM176A and 176B protein levels are significantly elevated in lymphoma, but not in normal tissues
    Title: Abnormal accumulation of human transmembrane (TMEM)-176A and 176B proteins is associated with cancer pathology.
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

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of dendritic cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 176A
Names
hepatocellular carcinoma-associated antigen 112
likley ortholog of mouse GS188

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_018487.3 → NP_060957.2  transmembrane protein 176A

    See identical proteins and their annotated locations for NP_060957.2

    Status: VALIDATED

    Source sequence(s)
    BC008303
    Consensus CDS
    CCDS5909.1
    UniProtKB/Swiss-Prot
    Q96HP8
    UniProtKB/TrEMBL
    A0A090N8H6
    Related
    ENSP00000004103.3, ENST00000004103.8
    Conserved Domains (1) summary
    pfam04103
    Location:56 → 194
    CD20; CD20-like 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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    150800543..150805119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012393.1 → XP_016867882.1  transmembrane protein 176A isoform X3

  2. XM_024446824.1 → XP_024302592.1  transmembrane protein 176A isoform X5

    Conserved Domains (1) summary
    pfam04103
    Location:56 → 186
    CD20; CD20-like family

  3. XM_011516376.3 → XP_011514678.1  transmembrane protein 176A isoform X1

    Conserved Domains (1) summary
    pfam04103
    Location:73 → 211
    CD20; CD20-like family

  4. XM_011516378.2 → XP_011514680.1  transmembrane protein 176A isoform X4

    Conserved Domains (1) summary
    pfam04103
    Location:73 → 203
    CD20; CD20-like family

  5. XM_011516377.2 → XP_011514679.1  transmembrane protein 176A isoform X2

    Conserved Domains (1) summary
    pfam04103
    Location:73 → 211
    CD20; CD20-like family
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96HP8.1 GenPept UniProtKB/Swiss-Prot:Q96HP8

Gene LinkOut

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