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MS4A4E Gene

protein-coding   GIFtS: 33
GCID: GC11M059969          (predicted)

Membrane-Spanning 4-Domains, Subfamily A, Member 4E

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane-Spanning 4-Domains, Subfamily A, Member 4E1 2

External Ids:    HGNC: 142841   Entrez Gene: 6436802   Ensembl: ENSG000002147877   OMIM: 6084015   UniProtKB: Q96PG13   

Export aliases for MS4A4E gene to outside databases

Previous GC identifers: GC11U990623 GC11M059732 GC11M056316


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, subfamily A, member 4E) is a protein-coding gene.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MS4A4E gene promoter:
         MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MS4A4E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MS4A4E


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12.2

MS4A4E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MS4A4E gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M059969:  view genomic region     (about GC identifiers)

Start:
59,968,726 bp from pter      End:
60,010,561 bp from pter
Size:
41,836 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: M4A4E_HUMAN, Q96PG1 (See protein sequence)
Recommended Name: Putative membrane-spanning 4-domains subfamily A member 4E  
Size: 132 amino acids; 15209 Da
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Sequence caution: Sequence=AAL07363.1; Type=Miscellaneous discrepancy; Note=Intron retention. The entire sequence
corresponds to part of an intron;
Secondary accessions: Q3C1W1 Q3C1W3 Q3C1W4
Alternative splicing: 3 isoforms:  Q96PG1-1   Q96PG1-2   Q96PG1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MS4A4E: NX_Q96PG1

Explore proteomics data for MS4A4E at MOPED


See MS4A4E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000435345   ENSP00000436124   ENSP00000389556   ENSP00000435601   ENSP00000436446  
 ENSP00000415222   ENSP00000381956   ENSP00000381954  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR007237 CD20-like

Graphical View of Domain Structure for InterPro Entry Q96PG1

ProtoNet protein and cluster: Q96PG1

UniProtKB/Swiss-Prot: M4A4E_HUMAN, Q96PG1
Similarity: Belongs to the MS4A family


Find genes that share domains with MS4A4E           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MS4A4E
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
M4A4E_HUMAN, Q96PG1: Membrane; Multi-pass membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane2
cytosol1
endoplasmic reticulum1
extracellular1
golgi apparatus1
mitochondrion1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with MS4A4E           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MS4A4E
Interactions:

    Search GeneGlobe Interaction Network for MS4A4E

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MS4A4E (M4A4E)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Unigene Cluster for MS4A4E:

Membrane-spanning 4-domains, subfamily A, member 4E
Hs.559934
Unigene Representative Sequence: AK300102
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000532442 ENST00000526153(uc001now.2) ENST00000425663(uc001nox.2)
ENST00000526086(uc009ymw.2) ENST00000528394(uc001noy.2) ENST00000427611
ENST00000398986 ENST00000398984(uc001nov.2)
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Additional mRNA sequence: 

AB231725.1 AB231726.1 AB231727.1 AB231728.1 AB231729.1 AB231730.1 AB231731.1 AK300102.1 
XM_003119183.1 

1 DOTS entry:

DT.120678560 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MS4A4E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGAATAATAA
MS4A4E Expression
About this image

MS4A4E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MS4A4E Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.559934
    Custom PCR Arrays for MS4A4E
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A4E

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for MS4A4E gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia MS4A4E6
membrane-spanning 4-domains, subfamily A, member 4...
97(a)
1 ↔ 1
11(57997905-58014767)


ENSEMBL Gene Tree for MS4A4E (if available)
TreeFam Gene Tree for MS4A4E (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MS4A4E gene
2 SIMAP similar genes for MS4A4E using alignment to 4 protein entries:     M4A4E_HUMAN (see all proteins):
C2CD3    MS4A4A

Find genes that share paralogs with MS4A4E           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MS4A4E (see all 378)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs356902961,2
C--56331730(+) GCCAG-/AAAAAA 1 -- int10--------
rs777323211,2
C--56334267(+) AGAAT-/GGCATA 1 -- int10--------
rs57921751,2
C--56338161(+) CCTTGT/-GATTG 1 -- int11Minor allele frequency- -:0.00NA 2
rs1836274171,2
--59900673(+) GTGTCC/TGGCTG 1 -- ds50010--------
rs6369881,2
C,F,A,H--59900760(+) AAACAG/TAAAAA 1 -- ds500118Minor allele frequency- T:0.13NS EA NA WA CSA 795
rs1894040841,2
--59900882(+) AGATGA/TGTACC 1 -- ds50010--------
rs1815966141,2
C--59900887(+) TGTACC/TTGACT 1 -- ds50010--------
rs743217141,2
F--59900889(+) TACCTG/AACTCC 1 -- ds50011Minor allele frequency- A:0.02EA 120
rs1866709331,2
--59900900(+) TAAATA/GAAAGA 1 -- ds50010--------
rs112301941,2
C,F--59900911(+) TTATTC/GTATTT 1 -- ds50013Minor allele frequency- G:0.27WA NA EA 358

HapMap Linkage Disequilibrium report for MS4A4E (59968726 - 60010561 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for MS4A4E: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MS4A4E
DNA2.0 Custom Variant and Variant Library Synthesis for MS4A4E

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608401    OMIM disorders: --


Find genes that share disorders with MS4A4E           About GenesLikeMe

Genetic Association Database (GAD): MS4A4E
Human Genome Epidemiology (HuGE) Navigator: MS4A4E (1 document)

Export disorders for MS4A4E gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for MS4A4E gene integrated from 10 sources:
(articles sorted by number of sources associating them with MS4A4E)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Structural organization of the human MS4A gene cluster on chromosome 11q12. (PubMed id 11486273)1, 2, 3 Liang Y.... Tedder T.F. (Immunogenetics 2001)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  3. Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. (PubMed id 23118302)1 Chu A.Y....Ridker P.M. (Circ Cardiovasc Genet 2012)
  4. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. (PubMed id 21627779)4 AntA_nez C....Ruiz A. (Genome Med 2011)
  5. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. (PubMed id 21460840)1 Hollingworth P....Williams J. (Nat. Genet. 2011)
  6. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PubMed id 21460841)4 Naj A.C....Schellenberg G.D. (Nat. Genet. 2011)
  7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 643680 HGNC: 14284 Ensembl:ENSG00000214787 euGenes: HUgn643680 ECgene: MS4A4E
H-InvDB: MS4A4E

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MS4A4E Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MS4A4E gene:
Search GeneIP for patents involving MS4A4E

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for MS4A4E
 Browse SwitchGear Promoter luciferase reporter plasmids for MS4A4E
 Search ThermoFisher Antibodies for MS4A4E
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MS4A4E
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MS4A4E
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MS4A4E
 Search LSBio for Antibodies for MS4A4E
Customized transgenic rodents for:
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 Browse compounds at ApexBio
 Search Addgene for plasmids for MS4A4E
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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