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MS4A6E Gene

protein-coding   GIFtS: 46
GCID: GC11P060102

Membrane-Spanning 4-Domains, Subfamily A, Member 6E

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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 6E1 2
Membrane-Spanning 4-Domains Subfamily A Member 6E2

External Ids:    HGNC: 142851   Entrez Gene: 2458022   Ensembl: ENSG000001669267   OMIM: 6084025   UniProtKB: Q96DS63   

Export aliases for MS4A6E gene to outside databases

Previous GC identifers: GC11P062496 GC11P061615 GC11P060353 GC11P059877 GC11P059858 GC11P056449


(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 MS4A6E Gene:
This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent 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. The gene encoding this protein is
localized to 11q12.3, among a cluster of family members. (provided by RefSeq, Jul 2008)

GeneCards Summary for MS4A6E Gene:
MS4A6E (membrane-spanning 4-domains, subfamily A, member 6E) is a protein-coding gene. An important paralog of this gene is MS4A6A.

UniProtKB/Swiss-Prot: M4A6E_HUMAN, Q96DS6
Function: May be involved in signal transduction as a component of a multimeric receptor complex




(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  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MS4A6E gene promoter:
         POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Cdc5   POU3F2   Evi-1   S8   FOXO1a   En-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMS4A6E promoter sequence
   Search Chromatin IP Primers for MS4A6E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MS4A6E


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

MS4A6E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MS4A6E gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P060102:  view genomic region     (about GC identifiers)

Start:
60,102,304 bp from pter      End:
60,164,069 bp from pter
Size:
61,766 bases      Orientation:
plus 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: M4A6E_HUMAN, Q96DS6 (See protein sequence)
Recommended Name: Membrane-spanning 4-domains subfamily A member 6E  
Size: 147 amino acids; 15909 Da
Secondary accessions: Q3MIL2 Q8NE56 Q96PG4 Q96PG5

Explore the universe of human proteins at neXtProt for MS4A6E: NX_Q96DS6

Explore proteomics data for MS4A6E at MOPED


See MS4A6E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_640342.1  
ENSEMBL proteins: 
 ENSP00000300182   ENSP00000432963   ENSP00000436675  

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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 Q96DS6

ProtoNet protein and cluster: Q96DS6

UniProtKB/Swiss-Prot: M4A6E_HUMAN, Q96DS6
Similarity: Belongs to the MS4A family


Find genes that share domains with MS4A6E           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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: M4A6E_HUMAN, Q96DS6
Function: May be involved in signal transduction as a component of a multimeric receptor complex

Phenotypes:
     2 GenomeRNAi human phenotypes for MS4A6E:

 Decreased POU5F1-GFP protein e  Decreased viability with pacli 

Animal Models:
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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
M4A6E_HUMAN, Q96DS6: Membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3

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 MS4A6E           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 MS4A6E
Interactions:

    Search GeneGlobe Interaction Network for MS4A6E

(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 MS4A6E (M4A6E)



(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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REFSEQ mRNAs for MS4A6E gene: 
NM_139249.2  

Unigene Cluster for MS4A6E:

Membrane-spanning 4-domains, subfamily A, member 6E
Hs.662211  [show with all ESTs]
Unigene Representative Sequence: FY213022
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000300182(uc001npd.3) ENST00000532756 ENST00000530509
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Additional mRNA sequence: 

AF333758.1 AF354931.1 AF354932.1 AF354933.1 BC034588.1 BC069322.1 BC101783.1 

1 DOTS entry:

DT.100028273 

Selected AceView cDNA sequences (see all 30):

AI806247 BC069322 AI684553 BC034588 AA677863 AI699419 AI962642 NM_139249 
AI279944 AA909515 AF333758 AF354931 AI222355 BX094573 BG718110 AA382998 
BU852484 AF354932 AA883638 AW072561 AW951636 AF354933 AI743473 BU854314 

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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MS4A6E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGCTGGATA
MS4A6E Expression
About this image

MS4A6E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MS4A6E Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.662211

UniProtKB/Swiss-Prot: M4A6E_HUMAN, Q96DS6
Tissue specificity: Expressed by malignant and fetal tissue at very low levels

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A6E

(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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ENSEMBL Gene Tree for MS4A6E (if available)
TreeFam Gene Tree for MS4A6E (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MS4A6E gene
MS4A6A2  MS4A72  
2 SIMAP similar genes for MS4A6E using alignment to 3 protein entries:     M4A6E_HUMAN (see all proteins):
MS4A6A    MS4A7

Find genes that share paralogs with MS4A6E           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 MS4A6E (see all 221)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs28681191,2
C,F,A,H--60100359(+) ATGCCC/TGCATA 1 -- us2k1 tfbs310Minor allele frequency- T:0.35NA WA CSA EA 376
rs28681201,2
C,F,A,H--60100363(+) CCGCAT/GAAATC 1 -- us2k1 tfbs310Minor allele frequency- G:0.35NA WA CSA EA 376
rs1466911131,2
--60100375(+) GTCAGA/GACCAG 1 -- us2k10--------
rs28681211,2
C,F,A,H--60100429(+) CACACG/ACTTCA 1 -- us2k135Minor allele frequency- A:0.33NS EA NA WA CSA 3299
rs79456651,2
C,F,A,H--60100564(+) AATAGC/TTTATG 1 -- us2k133Minor allele frequency- T:0.25NS EA NA WA CSA 3404
rs108970491,2
C,F,A,H--60100581(+) ATTAGC/TCCTTC 1 -- us2k1 tfbs3 trp330Minor allele frequency- T:0.24NA NS EA WA CSA 2919
rs44774571,2
C,F,A,H--60100607(+) TGAATG/ACTGGA 1 -- us2k114Minor allele frequency- A:0.34NA WA CSA EA 514
rs107922651,2
C,F,A,H--60100619(+) TAGTTA/GCCAGG 1 -- us2k115Minor allele frequency- G:0.36NS EA NA WA CSA 748
rs676273821,2
C--60100717(+) GAATT-/ATTTTT 1 -- us2k10--------
rs2007343161,2
C--60100717(+) TGAATA/TTTTTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for MS4A6E (60102304 - 60164069 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for MS4A6E:    About this table    
Variant IDTypeSubtypePubMed ID
esv2744569CNV Deletion23290073

Human Gene Mutation Database (HGMD): MS4A6E
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MS4A6E
DNA2.0 Custom Variant and Variant Library Synthesis for MS4A6E

(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: 608402    OMIM disorders: --


Find genes that share disorders with MS4A6E           About GenesLikeMe

Genetic Association Database (GAD): MS4A6E

Export disorders for MS4A6E 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 MS4A6E gene integrated from 10 sources:
(articles sorted by number of sources associating them with MS4A6E)
    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, 9 Liang Y.... Tedder T.F. (Immunogenetics 2001)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PubMed id 21460841)1 Naj A.C....Schellenberg G.D. (Nat. Genet. 2011)
  4. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 245802 HGNC: 14285 AceView: MS4A6E Ensembl:ENSG00000166926 euGenes: HUgn245802
ECgene: MS4A6E H-InvDB: MS4A6E

(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 MS4A6E 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 MS4A6E gene:
Search GeneIP for patents involving MS4A6E

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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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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