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] See more...

Aliases for MS4A4E Gene

Aliases for MS4A4E Gene

  • Membrane Spanning 4-Domains A4E 2 3 5
  • Putative Membrane-Spanning 4-Domains Subfamily A Member 4E 3 4
  • Membrane-Spanning 4-Domains, Subfamily A, Member 4E 2

External Ids for MS4A4E Gene

Previous GeneCards Identifiers for MS4A4E Gene

  • GC11U990623
  • GC11M059732
  • GC11M059969
  • GC11M056316
  • GC11M060201

Summaries for MS4A4E Gene

Entrez Gene Summary for MS4A4E Gene

  • 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]

GeneCards Summary for MS4A4E Gene

MS4A4E (Membrane Spanning 4-Domains A4E) is a Protein Coding gene. An important paralog of this gene is MS4A4A.

Additional gene information for MS4A4E Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MS4A4E Gene

Genomics for MS4A4E Gene

GeneHancer (GH) Regulatory Elements for MS4A4E Gene

Promoters and enhancers for MS4A4E Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J060243 Promoter/Enhancer 0.7 EPDnew ENCODE 750.6 +0.1 54 0.2 TEAD4 ZNF639 HDAC1 MS4A4E MIR6503 MS4A4A
GH11J060242 Promoter 0.4 Ensembl 750.6 +0.4 436 0.2 ZNF639 MS4A4E MIR6503 MS4A4A
GH11J060840 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -600.1 -600110 5.9 FOXK2 SIN3A ZBTB40 SP1 SIX5 MLX SMARCE1 RBPJ POLR2A TCF7L2 CCDC86 ENSG00000255959 TMEM109 CPSF7 TMEM138 RN7SL23P VPS37C CYB561A3 MS4A2 SDHAF2
GH11J059705 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 10.1 +535.8 535831 4.2 SMARCE1 TCF7L2 RUNX1 CC2D1A DACH1 TEAD4 ZC3H8 ZKSCAN8 ZNF148 MAFK STX3 RN7SKP192 lnc-OR10V1-2 FAM111A FAM111B MS4A4E MS4A6A lnc-STX3-3
GH11J059959 Enhancer 1.1 Ensembl ENCODE 10.1 +281.9 281925 2.7 SMARCE1 RUNX1 CC2D1A ELF1 HLF L3MBTL2 TEAD4 ZNF652 ZNF148 GTF2F1 TMEM132A TMEM109 FAM111A PATL1 FAM111B STX3 MS4A4E ENSG00000256196 OOSP4A NONHSAG008419.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MS4A4E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MS4A4E gene promoter:
  • MRF-2

Genomic Locations for MS4A4E Gene

Genomic Locations for MS4A4E Gene
42,868 bases
Minus strand
41,836 bases
Minus strand

Genomic View for MS4A4E Gene

Genes around MS4A4E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MS4A4E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MS4A4E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MS4A4E Gene

Proteins for MS4A4E Gene

  • Protein details for MS4A4E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative membrane-spanning 4-domains subfamily A member 4E
    Protein Accession:
    Secondary Accessions:
    • Q3C1W1
    • Q3C1W3
    • Q3C1W4

    Protein attributes for MS4A4E Gene

    132 amino acids
    Molecular mass:
    15209 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAL07363.1; Type=Miscellaneous discrepancy; Note=Intron retention. The entire sequence corresponds to part of an intron.; Evidence={ECO:0000305};

    Alternative splice isoforms for MS4A4E Gene


neXtProt entry for MS4A4E Gene

Post-translational modifications for MS4A4E Gene

No Post-translational modifications

No data available for DME Specific Peptides for MS4A4E Gene

Domains & Families for MS4A4E Gene

Gene Families for MS4A4E Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MS4A4E Gene


Suggested Antigen Peptide Sequences for MS4A4E Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59048 (B4DT89_HUMAN)
  • Putative membrane-spanning 4-domains subfamily A member 4E (M4A4E_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MS4A family.
  • Belongs to the MS4A family.
genes like me logo Genes that share domains with MS4A4E: view

Function for MS4A4E Gene

Phenotypes From GWAS Catalog for MS4A4E Gene

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MS4A4E Gene

Localization for MS4A4E Gene

Subcellular locations from UniProtKB/Swiss-Prot for MS4A4E Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for MS4A4E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MS4A4E: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for MS4A4E Gene

Pathways & Interactions for MS4A4E Gene

PathCards logo

SuperPathways for MS4A4E Gene

No Data Available

Interacting Proteins for MS4A4E Gene

Gene Ontology (GO) - Biological Process for MS4A4E Gene


No data available for Pathways by source and SIGNOR curated interactions for MS4A4E Gene

Drugs & Compounds for MS4A4E Gene

No Compound Related Data Available

Transcripts for MS4A4E Gene

mRNA/cDNA for MS4A4E Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for MS4A4E Gene

No ASD Table

Relevant External Links for MS4A4E Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MS4A4E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MS4A4E Gene

mRNA differential expression in normal tissues according to GTEx for MS4A4E Gene

This gene is overexpressed in Spleen (x5.8).

NURSA nuclear receptor signaling pathways regulating expression of MS4A4E Gene:


SOURCE GeneReport for Unigene cluster for MS4A4E Gene:

genes like me logo Genes that share expression patterns with MS4A4E: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MS4A4E Gene

Orthologs for MS4A4E Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for MS4A4E Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MS4A4E 33
  • 97 (a)
Species where no ortholog for MS4A4E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MS4A4E Gene

Gene Tree for MS4A4E (if available)
Gene Tree for MS4A4E (if available)
Evolutionary constrained regions (ECRs) for MS4A4E: view image

Paralogs for MS4A4E Gene

(2) SIMAP similar genes for MS4A4E Gene using alignment to 4 proteins:

  • B4DT89_HUMAN
genes like me logo Genes that share paralogs with MS4A4E: view

Variants for MS4A4E Gene

Sequence variations from dbSNP and Humsavar for MS4A4E Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000048184 -- 60,209,558(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000059646 -- 60,221,081(-) A/G intron_variant
rs1000074188 -- 60,220,812(-) G/A intron_variant
rs1000263393 -- 60,244,014(-) G/A upstream_transcript_variant
rs1000268898 -- 60,243,781(-) A/G upstream_transcript_variant

Variation tolerance for MS4A4E Gene

Gene Damage Index Score: 3.48; 55.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MS4A4E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MS4A4E Gene

Disorders for MS4A4E Gene

Additional Disease Information for MS4A4E

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MS4A4E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MS4A4E Gene

Publications for MS4A4E Gene

  1. Structural organization of the human MS4A gene cluster on Chromosome 11q12. (PMID: 11486273) Liang Y … Tedder TF (Immunogenetics 2001) 2 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. (PMID: 27781389) Bressler J … Boerwinkle E (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017) 3 56
  4. Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk. (PMID: 26449541) Ebbert MTW … Kauwe JSK (Alzheimer's & dementia : the journal of the Alzheimer's Association 2016) 3 56
  5. Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. (PMID: 23118302) Chu AY … Ridker PM (Circulation. Cardiovascular genetics 2012) 3 56

Products for MS4A4E Gene

Sources for MS4A4E Gene