MS4A12 membrane spanning 4-domains A12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MS4A12provided by HGNC
Official Full Name: membrane spanning 4-domains A12provided by HGNC
Primary source: HGNC:HGNC:13370
See related: Ensembl:ENSG00000071203 MIM:606550; AllianceGenome:HGNC:13370
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: Ms4a10
Summary: The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Expression: Restricted expression toward colon (RPKM 119.7) See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60492778..60507430)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60443950..60458574)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (60260251..60274903)

Chromosome 11 - NC_000011.10 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 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?

CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer.
Title: CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer.
In early stage colon cancer, the patients with low MS4A12 expression had a poor survival, while in advanced stage colon cancer MS412 had little prognostic value.
Title: Decreased expression of MS4A12 inhibits differentiation and predicts early stage survival in colon cancer.
RNA interference of CDX1 and CDX2 and chromatin immunoprecipitation in colon cancer cells revealed that MS4A12 transcript and protein expression is essentially dependent on the presence of endogenous CDX2.
Title: Selective activation of tumor growth-promoting Ca2+ channel MS4A12 in colon cancer by caudal type homeobox transcription factor CDX2.
MS4A12 is a colon-selective store-operated calcium channel promoting malignant cell processes.
Title: MS4A12 is a colon-selective store-operated calcium channel promoting malignant cell processes.

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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

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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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 cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: membrane-spanning 4-domains subfamily A member 12

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_001164470.2 → NP_001157942.1 membrane-spanning 4-domains subfamily A member 12 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK000224, BP262076, BP262976

Consensus CDS

CCDS53638.1

UniProtKB/Swiss-Prot

Q9NXJ0

Related

ENSP00000440424.1, ENST00000537076.5

Conserved Domains (1) summary

pfam04103
Location:93 → 175

CD20; CD20-like family
NM_017716.3 → NP_060186.2 membrane-spanning 4-domains subfamily A member 12 isoform 1

See identical proteins and their annotated locations for NP_060186.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK000224, BP262076

Consensus CDS

CCDS7988.1

UniProtKB/Swiss-Prot

F5GX98, Q8N6L4, Q9NXJ0

Related

ENSP00000016913.4, ENST00000016913.8

Conserved Domains (1) summary

pfam04103
Location:90 → 221

CD20; CD20-like family