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MS4A4A membrane spanning 4-domains A4A [ Homo sapiens (human) ]

Gene ID: 51338, updated on 11-Sep-2019

Summary

Official Symbol
MS4A4Aprovided by HGNC
Official Full Name
membrane spanning 4-domains A4Aprovided by HGNC
Primary source
HGNC:HGNC:13371
See related
Ensembl:ENSG00000110079 MIM:606547
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
MS4A4; MS4A7; 4SPAN1; CD20L1; CD20-L1; HDCME31P
Summary
This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Broad expression in placenta (RPKM 28.4), gall bladder (RPKM 18.9) and 20 other tissues See more
Orthologs

Genomic context

See MS4A4A in Genome Data Viewer
Location:
11q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (60280666..60308970)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60048014..60076445)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A6A Neighboring gene membrane spanning 4-domains A4E Neighboring gene microRNA 6503 Neighboring gene membrane spanning 4-domains A6E Neighboring gene membrane spanning 4-domains A7

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
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • MGC22311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
membrane-spanning 4-domains subfamily A member 4A
Names
CD20 antigen-like 1
Fc epsilon receptor beta subunit homolog
epididymis secretory sperm binding protein
four-span transmembrane protein 1
membrane-spanning 4-domains, subfamily A, member 4

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_001243266.2NP_001230195.1  membrane-spanning 4-domains subfamily A member 4A isoform 3

    See identical proteins and their annotated locations for NP_001230195.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (3) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AP003127, AP003970
    Consensus CDS
    CCDS58135.1
    UniProtKB/Swiss-Prot
    Q96JQ5
    Related
    ENSP00000434506.1, ENST00000532114.5
    Conserved Domains (1) summary
    pfam04103
    Location:65157
    CD20; CD20-like family
  2. NM_024021.4NP_076926.2  membrane-spanning 4-domains subfamily A member 4A isoform 2

    See identical proteins and their annotated locations for NP_076926.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional exon at the 5' end compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AP003127, AP003970
    UniProtKB/Swiss-Prot
    Q96JQ5
    UniProtKB/TrEMBL
    Q4JF27
    Conserved Domains (1) summary
    pfam04103
    Location:46188
    CD20; CD20-like family
  3. NM_148975.3NP_683876.1  membrane-spanning 4-domains subfamily A member 4A isoform 1

    See identical proteins and their annotated locations for NP_683876.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longest isoform (1).
    Source sequence(s)
    AP003127, AP003970
    Consensus CDS
    CCDS7982.1
    UniProtKB/Swiss-Prot
    Q96JQ5
    Related
    ENSP00000338648.4, ENST00000337908.5
    Conserved Domains (1) summary
    pfam04103
    Location:65207
    CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    60280666..60308970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017909.2XP_016873398.1  membrane-spanning 4-domains subfamily A member 4A isoform X1

    UniProtKB/Swiss-Prot
    Q96JQ5
    Conserved Domains (1) summary
    pfam04103
    Location:46188
    CD20; CD20-like family
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