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MS4A5 Gene

protein-coding   GIFtS: 45
GCID: GC11P060197

Membrane-Spanning 4-Domains, Subfamily A, Member 5

  See related diseases
at  

(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 51 2     CD20 Antigen-Like 22 3
CD20L22 3 5     CD20-L22
TETM42 3 5     Membrane-Spanning 4-Domains Subfamily A Member 52
Testis-Expressed Transmembrane Protein 42 3     Testis-Expressed Transmembrane-4 Protein2

External Ids:    HGNC: 133741   Entrez Gene: 642322   Ensembl: ENSG000001669307   OMIM: 6064995   UniProtKB: Q9H3V23   

Export aliases for MS4A5 gene to outside databases

Previous GC identifers: GC11P062590 GC11P061710 GC11P060447 GC11P059972 GC11P059953 GC11P056544


(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 MS4A5 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. Though this member is not expressed in
hematopoietic cells specifically, it may be involved in signal transduction like many of its related family
members. The gene encoding this protein is localized to 11q12, among a cluster of family members. (provided by
RefSeq, Jul 2008)

GeneCards Summary for MS4A5 Gene:
MS4A5 (membrane-spanning 4-domains, subfamily A, member 5) is a protein-coding gene. Diseases associated with MS4A5 include breast and colorectal cancer, and hepatitis b. An important paralog of this gene is MS4A14.

UniProtKB/Swiss-Prot: MS4A5_HUMAN, Q9H3V2
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:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MS4A5 gene promoter:
         Sox5   AML1a   Olf-1   GATA-2   Meis-1b   Evi-1   POU2F1   POU2F1a   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMS4A5 promoter sequence
   Search Chromatin IP Primers for MS4A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MS4A5


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

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

MS4A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MS4A5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P060197:  view genomic region     (about GC identifiers)

Start:
60,197,062 bp from pter      End:
60,222,687 bp from pter
Size:
25,626 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MS4A5_HUMAN, Q9H3V2 (See protein sequence)
Recommended Name: Membrane-spanning 4-domains subfamily A member 5  
Size: 200 amino acids; 22283 Da
Secondary accessions: Q9BZH1

Explore the universe of human proteins at neXtProt for MS4A5: NX_Q9H3V2

REFSEQ proteins: NP_076434.2  
ENSEMBL proteins: 
 ENSP00000300190   ENSP00000435330   ENSP00000435192   ENSP00000433802   ENSP00000432836  

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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 Q9H3V2

ProtoNet protein and cluster: Q9H3V2

UniProtKB/Swiss-Prot: MS4A5_HUMAN, Q9H3V2
Similarity: Belongs to the MS4A family


MS4A5 for domains           About GeneDecksing


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: MS4A5_HUMAN, Q9H3V2
Function: May be involved in signal transduction as a component of a multimeric receptor complex

Phenotypes:
     2 GenomeRNAi human phenotypes for MS4A5:

 Decreased cilium length  Decreased cilium length after  

     1 MGI phenotypic allele for Ms4a5 (no phenotypes)

MS4A5 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Ms4a5tm1Lex for MS4A5

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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
MS4A5_HUMAN, Q9H3V2: 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--

MS4A5 for ontologies           About GeneDecksing


(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 MS4A5
Interactions:

    Search GeneGlobe Interaction Network for MS4A5

1 Interacting protein for MS4A5 (Q9H3V23) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CFTRP135693I2D: score=1 
About this table

(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 MS4A5



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MS4A5 gene: 
NM_023945.2  

Unigene Cluster for MS4A5:

Membrane-spanning 4-domains, subfamily A, member 5
Hs.178066  [show with all ESTs]
Unigene Representative Sequence: BU160183
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000300190(uc001npo.3) ENST00000533885 ENST00000534071 ENST00000531403
ENST00000528905 ENST00000528093
miRNA
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Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat MS4A5

Additional mRNA sequence: 

AB013103.1 AF237907.1 AF321127.1 BC029884.1 

3 DOTS entries:

DT.454916  DT.210380  DT.95285765 

Selected AceView cDNA sequences (see all 146):

AI568297 NM_152867 AW512599 AI253701 AA731893 AI864701 BX401902 AI080700 
BE045311 BC029884 AA814100 NM_152866 AA505051 AA714528 AA781801 AI864832 
X07204 BM909362 AA416972 CR617832 BQ006410 AA411806 NM_023945 BE675149 

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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MS4A5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATTCAAGCA
MS4A5 Expression
About this image

MS4A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.178066

UniProtKB/Swiss-Prot: MS4A5_HUMAN, Q9H3V2
Tissue specificity: Expressed at high level in the testis. Detected also in the pancreas, heart and in the brain

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A5

(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 mouse.

Orthologs for MS4A5 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ms4a51 , 5 membrane-spanning 4-domains, subfamily A, member 51, 5 77.04(n)1
69.39(a)1
  19 (8.27 cM)5
2690631  NM_183190.21  NP_899013.11 
 112738665 


ENSEMBL Gene Tree for MS4A5 (if available)
TreeFam Gene Tree for MS4A5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MS4A5 gene
MS4A142  
4 SIMAP similar genes for MS4A5 using alignment to 4 protein entries:     MS4A5_HUMAN (see all proteins):
MS4A14    MS4A1    MS4A4A    MS4A8

MS4A5 for paralogs           About GeneDecksing



(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 MS4A5 (see all 521)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0364024
A colorectal cancer sample4--see VAR_0364022 L R mis40--------
rs1915904541,2
--60195115(+) ATCAAC/TAAAAA 1 -- us2k10--------
rs1831371851,2
--60195163(+) AAGTAA/TCTGCT 1 -- us2k10--------
rs1863230571,2
--60195206(+) TAATAC/TTTATT 1 -- us2k10--------
rs1426457111,2
--60195409(+) CTAGGC/TTTCTC 1 -- us2k10--------
rs1896458601,2
--60195449(+) CACCAA/GATTGC 1 -- us2k10--------
rs1460450011,2
--60195669(+) AACTTA/CGGGAA 1 -- us2k10--------
rs1822845491,2
--60195672(+) TTAGGA/GAATGC 1 -- us2k10--------
rs1399153431,2
C--60195744(+) AAACTA/GAACAA 1 -- us2k10--------
rs1879565851,2
--60195756(+) AGATGG/TATACG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for MS4A5 (60197062 - 60222687 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for MS4A5:    About this table    
Variant IDTypeSubtypePubMed ID
esv2744569CNV Deletion23290073
nsv508635CNV Loss20534489

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MS4A5
DNA2.0 Custom Variant and Variant Library Synthesis for MS4A5

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606499    OMIM disorders: --

5 diseases for MS4A5:    About MalaCards
breast and colorectal cancer    hepatitis b    cystic fibrosis    hepatitis
colorectal cancer


MS4A5 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: MS4A5 (1 document)

Export disorders for MS4A5 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 MS4A5 gene integrated from 10 sources:
(articles sorted by number of sources associating them with MS4A5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of a new multigene four-transmembrane family (MS4A) related to CD20, HTm4 and beta subunit of the high-affinity IgE receptor. (PubMed id 11245982)1, 2, 3 Ishibashi K.... Imai M. (Gene 2001)
  2. Identification of a CD20-, Fc-epsilon-RI-beta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse. (PubMed id 11401424)1, 2, 3 Liang Y. and Tedder T.F. (Genomics 2001)
  3. Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and Fc-epsilon-RI-beta. (PubMed id 11162526)1, 2, 9 Hulett M.D.... Parish C.R. (Biochem. Biophys. Res. Commun. 2001)
  4. 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)
  5. Structural organization of the human MS4A gene cluster on chromosome 11q12. (PubMed id 11486273)1, 9 Liang Y.... Tedder T.F. (Immunogenetics 2001)
  6. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
  7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
  8. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. (PubMed id 17110338)1 Wang X....Balch W.E. (Cell 2006)
  9. 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: 64232 HGNC: 13374 AceView: MS4A1andMS4A5 Ensembl:ENSG00000166930 euGenes: HUgn64232
ECgene: MS4A5 H-InvDB: MS4A5

(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 MS4A5 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 MS4A5 gene:
Search GeneIP for patents involving MS4A5

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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

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