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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MS4A4E Gene

protein-coding   GIFtS: 31
GCID: GC11M059969          (predicted)

membrane-spanning 4-domains, subfamily A, member 4E

 Explore 2 diseases affiliated with
MS4A4E via our new
 Human Malady Compendium 
Biological research products
for MS4A4E
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MS4A4E:
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)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MS4A4E gene promoter:
         MRF-2   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
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

MS4A4E Protein expression data from MOPED and PaxDb:    About this image 
MS4A4E Protein Expression

ENSEMBL proteins: 
 ENSP00000435345   ENSP00000436124   ENSP00000389556   ENSP00000435601   ENSP00000436446  
 ENSP00000415222   ENSP00000381956   ENSP00000381954  

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Uscn Proteins for MS4A4E

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--

MS4A4E for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MS4A4E for domains           About GeneDecksing

1 InterPro domain/family:
 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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004872receptor activity ----
     
MS4A4E for ontologies           About GeneDecksing


Animal Models:
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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MS4A4E

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MS4A4E
Search CenterWatch for drugs/clinical trials and news about MS4A4E / M4A4E 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)

miRNA
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Clone
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Additional cDNA 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MS4A4E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAATAATAA
MS4A4E Expression
About this image
See MS4A4E Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.559934
    SABiosciences Custom PCR Arrays for MS4A4E

Primer
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In Situ
Assay Products:
 

 
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(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)
About This Section
  --

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)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/326 NCBI SNPs in MS4A4E are shown (see all 326    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs743217141,2
F--56327125(+) TACCTG/AACTCC 1 -- ds50011Minor allele frequency- A:0.02EA 120
rs1123924381,2
--56327231(+) CTCCCC/TTAAAC 1 -- ds50012Minor allele frequency- T:0.05CSA WA 119
rs1165446891,2
C,F--56327411(+) CTGGTG/AATATT 1 -- ut311Minor allele frequency- A:0.03WA 118
rs795609101,2
--56328813(+) TATACC/GCTGGC 1 -- int10--------
rs729208291,2
C,F--56329085(+) TCCCAG/AAAAGA 1 -- int11Minor allele frequency- A:0.02NA 120
rs580881981,2
C--56329574(+) AAATAC/ACCAGA 1 -- int11Minor allele frequency- A:0.50WA 2
rs758829191,2
F--56329662(+) AAAATA/GCATCA 1 -- int11Minor allele frequency- G:0.06WA 118
rs122812491,2
--56329728(+) taataT/Catata 1 -- int12Minor allele frequency- C:0.10CSA WA 119
rs601408001,2
--56329754(+) AAAAAC/TGTTAC 1 -- int10--------
rs1114925281,2
--56329962(+) AAAATA/CAAGAT 1 -- int11Minor allele frequency- C:0.00CSA 1

HapMap Linkage Disequilibrium report for MS4A4E (59968726 - 60010561 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for MS4A4E: --

SABiosciences Cancer Mutation PCR Assays
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(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.)
About This Section

MS4A4E for disorders           About GeneDecksing

OMIM gene information: 608401    OMIM disorders: --

2 diseases for MS4A4E:    About MalaCards
tay-sachs disease    alzheimer's disease

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)
About This Section

PubMed articles for MS4A4E gene integrated from 9 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. (2001)
  2. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. (PubMed id 21460840)1 Hollingworth P....Williams J. (2011)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 643680 HGNC: 14284 Ensembl:ENSG00000214787 euGenes: HUgn643680 ECgene: MS4A4E
H-InvDB: MS4A4E

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

 
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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