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

Summary

Official Symbol: TMEM176Aprovided by HGNC
Official Full Name: transmembrane protein 176Aprovided by HGNC
Primary source: HGNC:HGNC:24930
See related: Ensembl:ENSG00000002933 MIM:610334; AllianceGenome:HGNC:24930
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
Summary: Predicted to act upstream of or within negative regulation of dendritic cell differentiation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
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

Location:: 7q36.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (150800769..150805118)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (151973144..151977889)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150497857..150502206)

Chromosome 7 - NC_000007.14 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?

Methylation of TMEM176A, a key ERK signaling regulator, is a novel synthetic lethality marker of ATM inhibitors in human lung cancer.
Title: Methylation of TMEM176A, a key ERK signaling regulator, is a novel synthetic lethality marker of ATM inhibitors in human lung cancer.
TMEM176A acts as a tumor suppressor gene in pancreatic cancer by inhibiting ERK signaling.
Title: TMEM176A acts as a tumor suppressor gene in pancreatic cancer by inhibiting ERK signaling.
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.
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.
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.
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.
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.
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.

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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
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. 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

D7S2901 (e-PCR)
- UniSTS:24320

WI-20421 (e-PCR)
- UniSTS:10105

D1S3699 (e-PCR)
- UniSTS:474277

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	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in 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)

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

D3DX00, Q96HP8, Q9NYC7

UniProtKB/TrEMBL

A0A090N8H6

Related

ENSP00000004103.3, ENST00000004103.8

Conserved Domains (1) summary

pfam04103
Location:56 → 194

CD20; CD20-like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

150800769..150805118

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516376.4 → XP_011514678.1 transmembrane protein 176A isoform X3

Conserved Domains (1) summary

pfam04103
Location:73 → 211

CD20; CD20-like family
XM_011516378.3 → XP_011514680.1 transmembrane protein 176A isoform X1

Conserved Domains (1) summary

pfam04103
Location:73 → 203

CD20; CD20-like family
XM_024446824.2 → XP_024302592.1 transmembrane protein 176A isoform X2

Conserved Domains (1) summary

pfam04103
Location:56 → 186

CD20; CD20-like family
XM_047420570.1 → XP_047276526.1 transmembrane protein 176A isoform X4