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

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; 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: all
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Genomic context

Location:: 11q12.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60056665..60071115)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60007952..60022403)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (59824138..59838588)

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
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?

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.
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.
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.
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.
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].
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
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.

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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

EBI GWAS Catalog

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

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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Markers

MS4A3_941 (e-PCR)
- UniSTS:277507

MS4A3_V223 (e-PCR)
- UniSTS:277507

GDB:437690 (e-PCR)
- UniSTS:157250

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)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

60056665..60071115

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NW_019805498.1 Reference GRCh38.p14 PATCHES

Range

150537..165004

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332430.1 → XP_054188405.1 membrane-spanning 4-domains subfamily A member 3 isoform X2
XM_054332431.1 → XP_054188406.1 membrane-spanning 4-domains subfamily A member 3 isoform X1