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

Gene ID: 932, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:7317
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
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Genomic context

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Location:
11q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60056665..60071115)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60007952..60022403)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59824138..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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. [Regulatory role of HTm4 gene in hematopoietic cell cycle]. Li J, et al. Sheng Li Xue Bao, 2005 Apr 25. PMID 15830103
  2. Cloning of the cDNA for a hematopoietic cell-specific protein related to CD20 and the beta subunit of the high-affinity IgE receptor: evidence for a family of proteins with four membrane-spanning regions. Adra CN, et al. Proc Natl Acad Sci U S A, 1994 Oct 11. PMID 7524084, Free PMC Article
  3. MS4A3 promotes differentiation in chronic myeloid leukemia by enhancing common β-chain cytokine receptor endocytosis. Zhao H, et al. Blood, 2022 Feb 3. PMID 34780648, Free PMC Article
  4. Identification of MS4A3 as a reliable marker for early myeloid differentiation in human hematopoiesis. Ishibashi T, et al. Biochem Biophys Res Commun, 2018 Jan 15. PMID 29274779
  5. EVI1 promotes tumor growth via transcriptional repression of MS4A3. Heller G, et al. J Hematol Oncol, 2015 Mar 21. PMID 25886616, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MS4A3 promotes differentiation in chronic myeloid leukemia by enhancing common beta-chain cytokine receptor endocytosis.
    Title: MS4A3 promotes differentiation in chronic myeloid leukemia by enhancing common β-chain cytokine receptor endocytosis.
  2. These results suggest that cell surface expression of MS4A3 is useful to distinguish granulocyte/macrophage lineage-committed progenitors from other lineage-related ones in early human hematopoiesis. In conclusion, MS4A3 is useful to monitor early stage of myeloid differentiation in human hematopoiesis.
    Title: Identification of MS4A3 as a reliable marker for early myeloid differentiation in human hematopoiesis.
  3. a 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8
    Title: A 7-Gene Signature Depicts the Biochemical Profile of Early Prefibrotic Myelofibrosis.
  4. Our data reveal MS4A3 as a novel direct target of EVI1 in human myeloid cells, and show that its repression plays a role in EVI1 mediated tumor aggressiveness.
    Title: EVI1 promotes tumor growth via transcriptional repression of MS4A3.
  5. The C-terminal domain is important for the function of HTm4 in cell cycle regulation.
    Title: [Regulatory role of HTm4 gene in hematopoietic cell cycle].
  6. High HTm4 is associated with neoplasms.
    Title: Characterization of the expression of HTm4 (MS4A3), a cell cycle regulator, in human peripheral blood cells and normal and malignant tissues.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  8. HTm4 binding to KAP.Cdk2.cyclin A complex enhances the phosphatase activity of KAP, dissociates cyclin A, and facilitates KAP dephosphorylation of Cdk2
    Title: Binding of HTm4 to cyclin-dependent kinase (Cdk)-associated phosphatase (KAP).Cdk2.cyclin A complex enhances the phosphatase activity of KAP, dissociates cyclin A, and facilitates KAP dephosphorylation of Cdk2.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in specific granule membrane TAS
Traceable Author Statement
more info
  

General protein information

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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)

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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_001031666.2 → NP_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_001031809.2 → NP_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:53 → 150
    CD20; CD20-like family

  3. NM_006138.5 → NP_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
    A8MTP8, Q8NHW2, Q96HJ5
    Related
    ENSP00000278865.3, ENST00000278865.8
    Conserved Domains (1) summary
    pfam04103
    Location:50 → 196
    CD20; CD20-like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    60056665..60071115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam04103
    Location:1 → 136
    CD20; CD20-like family

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805498.1 Reference GRCh38.p14 PATCHES

    Range
    150537..165004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332430.1 → XP_054188405.1  membrane-spanning 4-domains subfamily A member 3 isoform X2

  2. XM_054332431.1 → XP_054188406.1  membrane-spanning 4-domains subfamily A member 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    60007952..60022403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370530.1 → XP_054226505.1  membrane-spanning 4-domains subfamily A member 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96HJ5.1 GenPept UniProtKB/Swiss-Prot:Q96HJ5

Gene LinkOut

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