The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for... See more...

Aliases for MS4A12 Gene

Aliases for MS4A12 Gene

  • Membrane Spanning 4-Domains A12 2 3 5
  • Membrane-Spanning 4-Domains Subfamily A Member 12 3 4
  • Membrane-Spanning 4-Domains, Subfamily A, Member 12 2
  • Ms4a10 3

External Ids for MS4A12 Gene

Previous GeneCards Identifiers for MS4A12 Gene

  • GC11P062654
  • GC11P061773
  • GC11P060035
  • GC11P060016
  • GC11P060260
  • GC11P056606

Summaries for MS4A12 Gene

Entrez Gene Summary for MS4A12 Gene

  • The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

GeneCards Summary for MS4A12 Gene

MS4A12 (Membrane Spanning 4-Domains A12) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include store-operated calcium channel activity. An important paralog of this gene is MS4A8.

UniProtKB/Swiss-Prot Summary for MS4A12 Gene

  • May be involved in signal transduction as a component of a multimeric receptor complex.

Additional gene information for MS4A12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MS4A12 Gene

Genomics for MS4A12 Gene

GeneHancer (GH) Regulatory Elements for MS4A12 Gene

Promoters and enhancers for MS4A12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J060492 Promoter 0.3 EPDnew 750.6 +0.0 17 0.1 MS4A12 piR-32677-072 piR-45471-083 piR-56451-022 piR-55655-090 LOC105369320
GH11J060498 Enhancer 0.8 Ensembl ENCODE dbSUPER 21.1 +6.3 6266 4.8 ETV6 SP1 ATF7 PKNOX1 EBF1 ATF2 NANOG MS4A12 MS4A14 MS4A7 LOC105369320
GH11J060363 Promoter/Enhancer 1.3 EPDnew FANTOM5 ENCODE dbSUPER 10.9 -128.8 -128787 1.7 CTCF ZBTB6 HLF MAX RAD21 REST TRIM22 ZNF143 SMC3 SMARCA5 MS4A7 HSALNG0084460 MS4A14 MS4A6E MS4A5 MS4A12 MS4A18 MS4A6A MS4A4A lnc-MS4A7-1
GH11J060366 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 10.9 -125.3 -125263 1.7 ZNF24 RELA MLLT1 IKZF1 TRIM22 IKZF2 ZNF143 EED ELF1 BCL11A MS4A14 MS4A7 MS4A6E MS4A5 MS4A12 MS4A4A MS4A13 MS4A18 MS4A6A HSALNG0084460
GH11J060305 Enhancer 0.9 Ensembl ENCODE 10.2 -181.5 -181498 11.5 ZNF24 SREBF1 JUND RELA SP1 ZNF687 CREM IKZF1 BACH1 TRIM22 MS4A6E MS4A13 MS4A12 MS4A18 MS4A6A piR-43105-088 NONHSAG008427.2 MS4A4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MS4A12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MS4A12 gene promoter:
  • Evi-1
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • STAT3
  • STAT5A
  • STAT5B

Genomic Locations for MS4A12 Gene

Genomic Locations for MS4A12 Gene
chr11:60,492,742-60,507,430
(GRCh38/hg38)
Size:
14,689 bases
Orientation:
Plus strand
chr11:60,260,251-60,274,903
(GRCh37/hg19)
Size:
14,653 bases
Orientation:
Plus strand

Genomic View for MS4A12 Gene

Genes around MS4A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MS4A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MS4A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MS4A12 Gene

Proteins for MS4A12 Gene

  • Protein details for MS4A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXJ0-M4A12_HUMAN
    Recommended name:
    Membrane-spanning 4-domains subfamily A member 12
    Protein Accession:
    Q9NXJ0
    Secondary Accessions:
    • F5GX98
    • Q8N6L4

    Protein attributes for MS4A12 Gene

    Size:
    267 amino acids
    Molecular mass:
    28069 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MS4A12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MS4A12 Gene

Post-translational modifications for MS4A12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MS4A12 Gene

No data available for DME Specific Peptides for MS4A12 Gene

Domains & Families for MS4A12 Gene

Gene Families for MS4A12 Gene

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

Protein Domains for MS4A12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MS4A12 Gene

GenScript: Design optimal peptide antigens:
  • Membrane-spanning 4-domains subfamily A member 12 (M4A12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NXJ0

UniProtKB/Swiss-Prot:

M4A12_HUMAN :
  • Belongs to the MS4A family.
Family:
  • Belongs to the MS4A family.
genes like me logo Genes that share domains with MS4A12: view

Function for MS4A12 Gene

Molecular function for MS4A12 Gene

UniProtKB/Swiss-Prot Function:
May be involved in signal transduction as a component of a multimeric receptor complex.

Phenotypes From GWAS Catalog for MS4A12 Gene

Gene Ontology (GO) - Molecular Function for MS4A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MS4A12: view
genes like me logo Genes that share phenotypes with MS4A12: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MS4A12 Gene

Localization for MS4A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MS4A12 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MS4A12 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for MS4A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MS4A12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MS4A12 Gene

Pathways & Interactions for MS4A12 Gene

PathCards logo

SuperPathways for MS4A12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MS4A12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MS4A12 Gene

Drugs & Compounds for MS4A12 Gene

No Compound Related Data Available

Transcripts for MS4A12 Gene

mRNA/cDNA for MS4A12 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MS4A12 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2: - - -
SP3:

Relevant External Links for MS4A12 Gene

GeneLoc Exon Structure for
MS4A12
ECgene alternative splicing isoforms for
MS4A12

Expression for MS4A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MS4A12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MS4A12 Gene

This gene is overexpressed in Colon - Transverse (x51.2).

NURSA nuclear receptor signaling pathways regulating expression of MS4A12 Gene:

MS4A12

SOURCE GeneReport for Unigene cluster for MS4A12 Gene:

Hs.272789

Evidence on tissue expression from TISSUES for MS4A12 Gene

  • Intestine(4.4)
  • Kidney(4)
  • Stomach(4)
genes like me logo Genes that share expression patterns with MS4A12: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MS4A12 Gene

Orthologs for MS4A12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MS4A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MS4A12 33 32
  • 98.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ms4a12 17 32
  • 67.32 (n)
rat
(Rattus norvegicus)
Mammalia Ms4a12 32
  • 66.54 (n)
oppossum
(Monodelphis domestica)
Mammalia MS4A12 33
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 37 (a)
ManyToMany
-- 33
  • 32 (a)
ManyToMany
-- 33
  • 32 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ms4a17c.1 33
  • 28 (a)
ManyToMany
ms4a17a.14 33
  • 28 (a)
ManyToMany
ms4a17a.11 33
  • 27 (a)
ManyToMany
si:dkey-238j22.1 33
  • 27 (a)
ManyToMany
si:dkey-77f5.10 33
  • 26 (a)
ManyToMany
ms4a17a.6 33
  • 26 (a)
ManyToMany
FP015791.1 33
  • 26 (a)
ManyToMany
ms4a17a.5 33
  • 25 (a)
ManyToMany
ms4a17a.1 33
  • 25 (a)
ManyToMany
si:ch73-56d11.4 33
  • 25 (a)
ManyToMany
si:dkey-174k12.3 33
  • 25 (a)
ManyToMany
ms4a17a.8 33
  • 24 (a)
ManyToMany
ms4a17a.9 33
  • 24 (a)
ManyToMany
ms4a17a.10 33
  • 24 (a)
ManyToMany
ms4a17a.4 33
  • 24 (a)
ManyToMany
ms4a17c.2 33
  • 24 (a)
ManyToMany
ms4a17a.7 33
  • 24 (a)
ManyToMany
si:ch73-56d11.3 33
  • 23 (a)
ManyToMany
ms4a17a.17 33
  • 22 (a)
ManyToMany
ms4a17a.2 33
  • 22 (a)
ManyToMany
ms4a17a.3 33
  • 22 (a)
ManyToMany
Species where no ortholog for MS4A12 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for MS4A12 Gene

ENSEMBL:
Gene Tree for MS4A12 (if available)
TreeFam:
Gene Tree for MS4A12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MS4A12: view image

Paralogs for MS4A12 Gene

(4) SIMAP similar genes for MS4A12 Gene using alignment to 3 proteins:

  • M4A12_HUMAN
  • E9PIX5_HUMAN
  • E9PNI3_HUMAN
genes like me logo Genes that share paralogs with MS4A12: view

Variants for MS4A12 Gene

Sequence variations from dbSNP and Humsavar for MS4A12 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000079688 -- 60,492,036(+) G/T upstream_transcript_variant
rs1000278311 -- 60,500,402(+) A/G intron_variant
rs1000505605 -- 60,506,498(+) T/C intron_variant
rs1000600994 -- 60,501,684(+) AAAAAAA/AAAAAA/AAAAAAAA intron_variant
rs1000811143 -- 60,491,128(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MS4A12 Gene

Variant ID Type Subtype PubMed ID
nsv337 CNV insertion 18451855

Variation tolerance for MS4A12 Gene

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.99; 98.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MS4A12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MS4A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MS4A12 Gene

Disorders for MS4A12 Gene

Additional Disease Information for MS4A12

No disorders were found for MS4A12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MS4A12 Gene

Publications for MS4A12 Gene

  1. Structural organization of the human MS4A gene cluster on Chromosome 11q12. (PMID: 11486273) Liang Y … Tedder TF (Immunogenetics 2001) 2 3 23 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse. (PMID: 11401424) Liang Y … Tedder TF (Genomics 2001) 2 3 56
  5. Decreased expression of MS4A12 inhibits differentiation and predicts early stage survival in colon cancer. (PMID: 27881006) He L … C Wang X (Neoplasma 2017) 3 56

Products for MS4A12 Gene

Sources for MS4A12 Gene