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

Gene ID: 54860, updated on 26-Nov-2021

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
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
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Genomic context

See MS4A12 in Genome Data Viewer
Location:
11q12.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (60492743..60507430)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60260251..60274903)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A5 Neighboring gene membrane spanning 4-domains A1 Neighboring gene uncharacterized LOC105369320 Neighboring gene membrane spanning 4-domains A13 Neighboring gene membrane spanning 4-domains A19, pseudogene Neighboring gene uncharacterized LOC105369321

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cell surface receptor signaling pathway 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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

  1. NM_001164470.2NP_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:93175
    CD20; CD20-like family
  2. NM_017716.3NP_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
    Q9NXJ0
    Related
    ENSP00000016913.4, ENST00000016913.8
    Conserved Domains (1) summary
    pfam04103
    Location:90221
    CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    60492743..60507430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545117.2XP_011543419.1  membrane-spanning 4-domains subfamily A member 12 isoform X1

    See identical proteins and their annotated locations for XP_011543419.1

    UniProtKB/Swiss-Prot
    Q9NXJ0
    Conserved Domains (1) summary
    pfam04103
    Location:90221
    CD20; CD20-like family
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