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MS4A4E membrane spanning 4-domains A4E [ Homo sapiens (human) ]

Gene ID: 643680, updated on 5-Mar-2024

Summary

Official Symbol
MS4A4Eprovided by HGNC
Official Full Name
membrane spanning 4-domains A4Eprovided by HGNC
Primary source
HGNC:HGNC:14284
See related
Ensembl:ENSG00000214787 MIM:608401; AllianceGenome:HGNC:14284
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

Location:
11q12.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60200270..60243137, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60151543..60194426, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59967743..60010610, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2705 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:59935886-59937085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4763 Neighboring gene membrane spanning 4-domains A6A Neighboring gene CRISPRi-validated cis-regulatory element chr11.2530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4764 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:59968587-59969442 Neighboring gene microRNA 6503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3370 Neighboring gene membrane spanning 4-domains A4A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60086754-60087254 Neighboring gene Sharpr-MPRA regulatory region 5454 Neighboring gene membrane spanning 4-domains A6E

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

Phenotypes

EBI GWAS Catalog

Description
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
EBI GWAS Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
EBI GWAS Catalog

General protein information

Preferred Names
putative membrane-spanning 4-domains subfamily A member 4E

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_001351235.2NP_001338164.1  putative membrane-spanning 4-domains subfamily A member 4E isoform 1

    Status: VALIDATED

    Source sequence(s)
    AK300102, AP003970
    UniProtKB/TrEMBL
    B4DT89
  2. NM_001393391.1NP_001380320.1  putative membrane-spanning 4-domains subfamily A member 4E isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP003970
    Consensus CDS
    CCDS91480.1
    UniProtKB/TrEMBL
    A0A494C1L8
    Related
    ENSP00000499123.1, ENST00000651255.1
    Conserved Domains (1) summary
    pfam04103
    Location:61152
    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
    60200270..60243137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545416.3XP_011543718.1  putative membrane-spanning 4-domains subfamily A member 4E isoform X1

    Conserved Domains (1) summary
    pfam04103
    Location:61152
    CD20; CD20-like family
  2. XM_017018641.2XP_016874130.1  putative membrane-spanning 4-domains subfamily A member 4E isoform X2

RNA

  1. XR_007062493.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    60151543..60194426 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369644.1XP_054225619.1  putative membrane-spanning 4-domains subfamily A member 4E isoform X1

  2. XM_054369645.1XP_054225620.1  putative membrane-spanning 4-domains subfamily A member 4E isoform X2

RNA

  1. XR_008488423.1 RNA Sequence

  2. XR_008488424.1 RNA Sequence