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MS4A3 membrane spanning 4-domains A3 [ Homo sapiens (human) ]

Gene ID: 932, updated on 13-Mar-2020

Summary

Official Symbol
MS4A3provided by HGNC
Official Full Name
membrane spanning 4-domains A3provided by HGNC
Primary source
HGNC:HGNC:7317
See related
Ensembl:ENSG00000149516 MIM:606498
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
HTM4; CD20L
Summary
This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward bone marrow (RPKM 168.2) See more
Orthologs

Genomic context

See MS4A3 in Genome Data Viewer
Location:
11q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (60056628..60071116)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59824101..59838588)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene oocyte secreted protein family member 4B Neighboring gene oocyte secreted protein 2 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 9 Neighboring gene membrane spanning 4-domains A2

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.
NHGRI GWA Catalog
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
membrane-spanning 4-domains subfamily A member 3
Names
CD20 antigen homolog
CD20 antigen-like protein
IgE receptor beta chain
IgE receptor beta subunit
hematopoietic cell 4 transmembrane protein
hematopoietic-specific transmembrane protein 4
membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)

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_001031666.2NP_001026836.1  membrane-spanning 4-domains subfamily A member 3 isoform c

    See identical proteins and their annotated locations for NP_001026836.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons, compared to variant 1. These differences cause translation initiation at a downstream ATG and result in an isoform (c) with a shorter N-terminus compared to isoform a.
    Source sequence(s)
    BC008487, BF210971, L35848
    Consensus CDS
    CCDS41651.1
    UniProtKB/Swiss-Prot
    Q96HJ5
    Related
    ENSP00000378473.2, ENST00000395032.6
  2. NM_001031809.1NP_001026979.1  membrane-spanning 4-domains subfamily A member 3 isoform b

    See identical proteins and their annotated locations for NP_001026979.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, but maintains the reading frame. The resulting protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    BC008487, BE564041, BG495577, L35848
    Consensus CDS
    CCDS31568.1
    UniProtKB/Swiss-Prot
    Q96HJ5
    Related
    ENSP00000350872.2, ENST00000358152.6
    Conserved Domains (1) summary
    pfam04103
    Location:53150
    CD20; CD20-like family
  3. NM_006138.5NP_006129.4  membrane-spanning 4-domains subfamily A member 3 isoform a

    See identical proteins and their annotated locations for NP_006129.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL601630, BC008487, L35848
    Consensus CDS
    CCDS31567.1
    UniProtKB/Swiss-Prot
    Q96HJ5
    Related
    ENSP00000278865.3, ENST00000278865.8
    Conserved Domains (1) summary
    pfam04103
    Location:50196
    CD20; CD20-like family

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    60056628..60071116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545363.3XP_011543665.1  membrane-spanning 4-domains subfamily A member 3 isoform X1

    Conserved Domains (1) summary
    pfam04103
    Location:1136
    CD20; CD20-like family

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805498.1 Reference GRCh38.p13 PATCHES

    Range
    150500..165004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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