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

SH2D4A Gene

protein-coding   GIFtS: 48
GCID: GC08P019215

SH2 domain containing 4A

  Search for SH2D4A
in our new
 Human Malady Compendium 
Biological research products
for SH2D4A
    

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

Aliases
SH2 Domain Containing 4A1 2     FLJ209671
PPP1R381 2 3     Protein Phosphatase 1, Regulatory Subunit 382
SH2A1 2 3     SH2 Domain-Containing Protein 4A2
Protein SH(2)A2 3     Protein Phosphatase 1 Regulatory Subunit 383

External Ids:    HGNC: 261021   Entrez Gene: 638982   Ensembl: ENSG000001046117   OMIM: 6149685   UniProtKB: Q9H7883   

Export aliases for SH2D4A gene to outside databases

Previous GC identifers: GC08P019182 GC08P017711


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

UniProtKB/Swiss-Prot: SH24A_HUMAN, Q9H788
Function: Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect
of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function

Gene Wiki entry for SH2D4A


(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_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH2D4A gene promoter:
         p53   FOXD1   HNF-1A   SRY   FOXC1   FOXJ2 (long isoform)   HNF-1   HFH-1   Sox9   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2D4A promoter sequence
   Search SABiosciences Chromatin IP Primers for SH2D4A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2D4A


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

Entrez Gene cytogenetic band: 8p21.2   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21

SH2D4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D4A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P019215:  view genomic region     (about GC identifiers)

Start:
19,171,081 bp from pter      End:
19,253,729 bp from pter
Size:
82,649 bases      Orientation:
plus 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: SH24A_HUMAN, Q9H788 (See protein sequence)
Recommended Name: SH2 domain-containing protein 4A  
Size: 454 amino acids; 52727 Da
Subunit: Interacts with ESR1
Subcellular location: Cytoplasm. Note=Located at podocyte foot processes (By similarity)
Sequence caution: Sequence=AAH67117.1; Type=Frameshift; Positions=392; Sequence=AAO41715.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAO41715.1; Type=Erroneous termination; Positions=455;
Note=Translated as stop; Sequence=BAB14935.1; Type=Erroneous initiation;
Secondary accessions: B4DDR1 Q5XKC1 Q6NXE9 Q86YM2 Q96C88 Q9H7F7
Alternative splicing: 2 isoforms:  Q9H788-1   Q9H788-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH2D4A: NX_Q9H788

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H788

  • SH2D4A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001167630.1  NP_001167631.1  NP_071354.2  

    ENSEMBL proteins: 
     ENSP00000265807   ENSP00000429482   ENSP00000428684   ENSP00000428048  

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    Uscn Proteins for SH2D4A

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--


    SH2D4A 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

    SH2D4A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q9H788

    ProtoNet protein and cluster: Q9H788

    1 Blocks protein family: IPB000980 SH2 domain signature

    UniProtKB/Swiss-Prot: SH24A_HUMAN, Q9H788
    Similarity: Contains 1 SH2 domain


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

    Function Summary:

         UniProtKB/Swiss-Prot: SH24A_HUMAN, Q9H788
    Function: Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect
    of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19389623
    GO:0019902phosphatase binding IDA19389623


    SH2D4A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Sh2d4atm1.1Pdk for SH2D4A
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh2d4a):
     no phenotypic analysis  normal 

    SH2D4A for phenotypes           About GeneDecksing


    (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 SH2D4A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/15 Interacting proteins for SH2D4A (Q9H7881, 2, 3 ENSP000002658074) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DBNLQ9UJU61, 2, 3EBI-2558037,EBI-751783 MINT-68272 I2D: score=5 
    MAGEA11P433641, 2, 3, ENSP000003473584EBI-2558037,EBI-739552 MINT-67945 I2D: score=6 STRING: ENSP00000347358
    SH3GL1Q999611, 3, ENSP000002698864EBI-2558037,EBI-697911 I2D: score=4 STRING: ENSP00000269886
    HCLS1P143172, 3, ENSP000003201764MINT-67768 I2D: score=5 STRING: ENSP00000320176
    PPP1CBP621403, ENSP000002961224I2D: score=2 STRING: ENSP00000296122
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010923negative regulation of phosphatase activity IDA19389623


    SH2D4A for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for SH2D4A
    Search CenterWatch for drugs/clinical trials and news about SH2D4A / SH24A 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SH2D4A gene (3 alternative transcripts): 
    NM_001174159.1  NM_001174160.1  NM_022071.3  

    Unigene Cluster for SH2D4A:

    SH2 domain containing 4A
    Hs.303208  [show with all ESTs]
    Unigene Representative Sequence: NM_022071
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265807(uc003wzb.3 uc011kym.2 uc003wzc.3) ENST00000518040
    ENST00000519207 ENST00000523736 ENST00000518093 ENST00000522328

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    Additional cDNA sequence: 

    AK024620.1 AK024799.1 AK225052.1 AK293301.1 AY190323.1 BC014525.2 BC067117.1 BC082982.1 

    6 DOTS entries:

    DT.305655  DT.97791812  DT.101970436  DT.97840908  DT.100774810  DT.120649743 

    24/118 AceView cDNA sequences (see all 118):

    CB124498 BM709025 CB243542 BX484872 BC014525 CA418381 AA977843 BM827287 
    BU625855 BP364899 AW673002 C00748 BU732479 BM714882 BE898238 CD723532 
    BM856853 BM826296 BU543213 CA446151 BX431828 AW951924 CB164021 BU521838 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D4A    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b
    SP1:        -                                               -                                   -               
    SP2:                                                        -                                   -               
    SP3:                                      -                                                                     
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for SH2D4A

    (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

    SH2D4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SH2D4A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH2D4A

    SOURCE GeneReport for Unigene cluster: Hs.303208

    UniProtKB/Swiss-Prot: SH24A_HUMAN, Q9H788
    Tissue specificity: Ubiquitously expressed. Aberrantly expressed in some cancers

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    In Situ
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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

    This gene was present in the common ancestor of animals.

    Orthologs for SH2D4A gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SH2D4A1 SH2 domain containing 4A 63.5(n)
    59.28(a)
      422487  XM_420452.3  XP_420452.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH2D4A6
    --
    54(a)
    1 ↔ 1
    6(58980229-59017286)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc561862 hypothetical protein MGC56186 74.88(n)   393219  BC047841.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F13B12.66
    --
    25(a)
    possible ortholog
    IV(10414052-10417868)


    ENSEMBL Gene Tree for SH2D4A (if available)
    TreeFam Gene Tree for SH2D4A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH2D4A gene
    HSH2D2  SH2D2A2  SH2D4B2  
    1 SIMAP similar gene for SH2D4A using alignment to 2 protein entries:     SH24A_HUMAN (see all proteins):
    SH2D4B

    SH2D4A for paralogs           About GeneDecksing



    (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

    10/1783 NCBI SNPs in SH2D4A are shown (see all 1783    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1846078151,2
    --19169087(+) TGAACC/TCAGGA 2 -- us2k10--------
    rs96930571,2
    C,--19169192(+) AATTCG/AAATTG 2 -- us2k14Minor allele frequency- A:0.34NA WA EA 360
    rs1870876001,2
    --19169314(+) GAGGAC/GAGGGG 2 -- us2k10--------
    rs356676781,2
    C,F,--19169374(+) AAGAGT/ATCATG 2 -- us2k16Minor allele frequency- A:0.14NA CSA WA EA 363
    rs1454017621,2
    --19169400(+) AGCCAC/TGAGAC 2 -- us2k10--------
    rs1918838991,2
    --19169408(+) GACAAC/GAAGGA 2 -- us2k10--------
    rs1158599441,2
    C,--19169445(+) GAAGAA/GAGTCT 2 -- us2k10--------
    rs1388786181,2
    --19169512(+) TATTAC/TTTCAA 3 -- us2k10--------
    rs1420125791,2
    --19169557(+) CTGAAA/GTGGCA 3 -- us2k10--------
    rs1843635511,2
    --19169628(+) GGGAGC/GTATGC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SH2D4A (19171081 - 19253729 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SH2D4A
         1 CNV: 48003
         1 Indel: 28886

    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

    SH2D4A for disorders           About MalaCards

    SH2D4A for disorders           About GeneDecksing

    OMIM gene information: 614968    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: SH2D4A (1 document)

    Export disorders for SH2D4A 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 SH2D4A gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SH2D4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SH2D4A regulates cell proliferation via the ERalpha/PLC-gamma/PKC pathway. (PubMed id 19712589)1, 2 Li T.... Zhao Y. (2009)
    2. Genetic analysis of SH2D4A, a novel adapter protein related to T cell-specific adapter and adapter protein in lymphocytes of unknown function, reveals a redundant function in T cells. (PubMed id 18641339)1, 2 Lapinski P.E....King P.D. (2008)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. 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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. A novel member of SH(2) signaling protein family: cloning and characterization of SH(2)A gene. (PubMed id 12476414)1, 2 Dai S.... Ding Q. (2002)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

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    Entrez Gene: 63898 HGNC: 26102 AceView: SH2D4A Ensembl:ENSG00000104611 euGenes: HUgn63898
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