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SH2D1A Gene

protein-coding   GIFtS: 67
GCID: GC0XP123480

SH2 Domain Containing 1A

(Previous names: lymphoproliferative syndrome, SH2 domain protein 1A)
(Previous symbols: IMD5, LYP)
  See SH2D1A-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
SH2 Domain Containing 1A1 2     Duncan'S Disease1
IMD51 2 5     Lymphoproliferative Syndrome1
LYP1 2 5     SH2 Domain Protein 1A1
Signaling Lymphocytic Activation Molecule-Associated Protein2 3     EBVS2
DSHP2 3     MTCP12
SAP2 3     SAP/SH2D1A2
Duncan Disease SH2-Protein2 3     XLPD2
SLAM-Associated Protein2 3     SH2 Domain-Containing Protein 1A2
T-Cell Signal Transduction Molecule SAP2 3     Signaling Lymphocyte Activation Molecule-Associated Protein2
XLP2 5     SLAM Associated Protein/SH2 Domain Protein 1A2
XLPD12 5     T Cell Signal Transduction Molecule SAP2

External Ids:    HGNC: 108201   Entrez Gene: 40682   Ensembl: ENSG000001839187   OMIM: 3004905   UniProtKB: O608803   

Export aliases for SH2D1A gene to outside databases

Previous GC identifers: GC0XP118197 GC0XP120373 GC0XP121432 GC0XP122177 GC0XP123205 GC0XP123307 GC0XP112860


(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 SH2D1A Gene:
This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This
protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule,
thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the
SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other
related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal
transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1
or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr
virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SH2D1A Gene:
SH2D1A (SH2 domain containing 1A) is a protein-coding gene. Diseases associated with SH2D1A include x-linked lymphoproliferative syndrome 1, and mature b-cell neoplasm. GO annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is SH2D1B.

UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880
Function: Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing
signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between
FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3

Gene Wiki entry for SH2D1A 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_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH2D1A gene promoter:
         AML1a   AP-1   Brachyury   ATF-2   NF-kappaB   MEF-2A   Pax-3   aMEF-2   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2D1A promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH2D1A


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

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq25   HGNC cytogenetic band: Xq25

SH2D1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D1A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP123480:  view genomic region     (about GC identifiers)

Start:
123,480,132 bp from pter      End:
123,507,010 bp from pter
Size:
26,879 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880 (See protein sequence)
Recommended Name: SH2 domain-containing protein 1A  
Size: 128 amino acids; 14187 Da
Subunit: Interacts with NTRK1, NTRK2 and NTRK3 (By similarity). Interacts with CD84, CD244, LY9, SLAMF1 and FYN
6 PDB 3D structures from and Proteopedia for SH2D1A:
1D1Z (3D)        1D4T (3D)        1D4W (3D)        1KA6 (3D)        1KA7 (3D)        1M27 (3D)    
Secondary accessions: A8MSW0 O95383 O95384 O95385 O95386 Q6FGS6 Q9UNR0
Alternative splicing: 6 isoforms:  O60880-1   O60880-2   O60880-3   O60880-4   O60880-5   O60880-6   

Explore the universe of human proteins at neXtProt for SH2D1A: NX_O60880

Explore proteomics data for SH2D1A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH2D1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001108409.1  NP_002342.1  

    ENSEMBL proteins: 
     ENSP00000360181   ENSP00000353126   ENSP00000477094  

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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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    HGNC Gene Families:
    SH2D: SH2 domain containing

    2 InterPro protein domains:
     IPR017289 SH2_prot_1A
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry O60880

    ProtoNet protein and cluster: O60880

    1 Blocks protein domain: IPB000980 SH2 domain signature

    UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880
    Similarity: Contains 1 SH2 domain


    Find genes that share domains with SH2D1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: SH21A_HUMAN, O60880
    Function: Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing
    signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between
    FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3

         Genatlas biochemistry entry for SH2D1A:
    SH2 domain protein 1A,15kDa,T cell specific SLAM (signaling lymphocyte-activation molecule)-associated
    protein,putative regulator of the signal transduction pathways initiated by interactions between the SLAM
    molecules at the interface between T and B cells

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity NAS9774102
    GO:0005515protein binding IPI10549287
         
    Find genes that share ontologies with SH2D1A           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Sh2d1a):
     hematopoietic system  homeostasis/metabolism  immune system 

    Find genes that share phenotypes with SH2D1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SH2D1A: Sh2d1atm1Pls Sh2d1atm2.1Vei Sh2d1atm1Cpt Sh2d1atm1Lyin

       genOway: Develop your customized and physiologically relevant rodent model for SH2D1A

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    SwitchGear 3'UTR luciferase reporter plasmidSH2D1A 3' UTR sequence
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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
    SH21A_HUMAN, O60880: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA9774102

    Find genes that share ontologies with SH2D1A           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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    SuperPaths for SH2D1A About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Measles0.34
    2Immune response Role of DAP12 receptors in NK cells
    Natural killer cell mediated cytotoxicity0.31
    3Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    4Lymphocyte Signaling
    Lymphocyte Signaling
    5Direct p53 effectors
    Direct p53 effectors


    Find genes that share SuperPaths with SH2D1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for SH2D1A
        Lymphocyte Signaling
    Tyrosine Kinases / Adaptors

    1 BioSystems Pathway for SH2D1A
        Direct p53 effectors



    2 Kegg Pathways  (Kegg details for SH2D1A):
        Natural killer cell mediated cytotoxicity
    Measles

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SH2D1A: 
              Type I Interferon Response in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SH2D1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for SH2D1A (O608801, 2, 3 ENSP000003601814) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLAMF1Q132911, 2, 3, ENSP000003061904EBI-6983382,EBI-4315002 MINT-8031819 MINT-8031894 MINT-8031924 MINT-59435 MINT-8031803 MINT-8031939 MINT-8031784 MINT-8031668 MINT-8031709 MINT-8031694 MINT-8031879 MINT-8031909 MINT-8027270 I2D: score=8 STRING: ENSP00000306190
    ARHGEF7Q141551, 2, 3, ENSP000003648934EBI-6983382,EBI-717515 MINT-3371844 MINT-3371676 MINT-3371742 MINT-3371897 MINT-3371714 MINT-3374885 I2D: score=2 STRING: ENSP00000364893
    FYNP062411, 2, 3, ENSP000003576564EBI-6983382,EBI-515315 MINT-3371929 MINT-3371954 I2D: score=6 STRING: ENSP00000357656
    ARHGEF6Q150521, 2, 3, ENSP000002506174EBI-6983382,EBI-1642523 MINT-3371695 MINT-3371874 I2D: score=2 STRING: ENSP00000250617
    DOK1Q997042, 3, ENSP000002336684MINT-8037441 MINT-8037456 I2D: score=4 STRING: ENSP00000233668
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006959humoral immune response IEA--
    GO:0006968cellular defense response NAS9774102
    GO:0007267cell-cell signaling IDA9774102
    GO:0009967positive regulation of signal transduction NAS9774102
    GO:0045954positive regulation of natural killer cell mediated cytotoxicity IEA--

    Find genes that share ontologies with SH2D1A           About GenesLikeMe



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for SH2D1A (SH21A)

    6 Novoseek inferred chemical compound relationships for SH2D1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 50.9 7 10549287 (2), 11258422 (1), 11689425 (1), 10607564 (1) (see all 5)
    tyrosine 45 38 16847311 (2), 11806999 (2), 11313386 (2), 11477403 (2) (see all 22)
    inositol 19.9 5 11313386 (1), 15315965 (1)
    fluconazole 19.6 6 10203490 (2), 19685156 (1), 10395861 (1)
    calcium 0 7 19150402 (3), 16983070 (1)
    threonine 0 1 11806999 (1)



    Find genes that share compounds with SH2D1A           About GenesLikeMe



    (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 SH2D1A gene (2 alternative transcripts): 
    NM_001114937.2  NM_002351.4  

    Unigene Cluster for SH2D1A:

    SH2 domain containing 1A
    Hs.349094  [show with all ESTs]
    Unigene Representative Sequence: AL023657
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371139(uc004euf.4 uc004euh.4 uc004eug.4 uc010nqw.3 uc004eui.4 uc010nqx.3)
    ENST00000360027 ENST00000491950 ENST00000494073 ENST00000477673
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    Additional mRNA sequence: 

    AB586694.1 AF072930.1 AF073019.1 AF100541.1 AF100542.1 AF100543.1 AK311645.1 AK311911.1 
    AL023657.1 BC020732.1 CR542031.1 CR542043.1 JX512648.1 

    2 DOTS entries:

    DT.409997  DT.121297086 

    Selected AceView cDNA sequences (see all 48):

    CR542031 AW183584 AF100539 NM_002351 AI399641 AF072930 AF100541 AF100543 
    BF056252 AU185696 CR542043 AL023657 BC020732 AF100542 AF100540 AI215447 
    BX105118 AI338791 BX456820 N89899 CD640907 BP432686 BG547181 AI377357 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SH2D1A (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
    SP1:                    -                                                                     
    SP2:                                                                                          
    SP3:                                                              -                           
    SP4:                                -           -                                             
    SP5:                                            -                                             


    ECgene alternative splicing isoforms for SH2D1A

    (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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    SH2D1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SH2D1A Expression
    About this image


    SH2D1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
    SH2D1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH2D1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.349094

    UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880
    Tissue specificity: Expressed at a high level in thymus and lung, with a lower level of expression in spleen and
    liver. Expressed in peripheral blood leukocytes, including T lymphocytes. Tends to be expressed at lower levels
    in peripheral blood leukocytes in patients with rheumatoid arthritis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SH2D1A: 
              Type I Interferon Response in human mouse rat
              Notch Signaling Pathway in human mouse rat

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SH2D1A gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2d1a1 , 5 SH2 domain protein 1A1, 5 85.98(n)1
    88.89(a)1
      X (23.20 cM)5
    204001  NM_011364.31  NP_035494.11 
     425024535 
    chicken
    (Gallus gallus)
    Aves LOC1008578691 SH2 domain-containing protein 1A-like 70.03(n)
    69.75(a)
      100857869  XM_003641119.2  XP_003641167.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.288712 Xenopus laevis signal transduction regulatory protein more 75.99(n)    AF401351.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sh2d1ab1 SH2 domain containing 1A duplicate b 63.24(n)
    63.55(a)
      100148259  XM_001920613.3  XP_001920648.3 


    ENSEMBL Gene Tree for SH2D1A (if available)
    TreeFam Gene Tree for SH2D1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH2D1A gene
    SH2D1B2  
    9 SIMAP similar genes for SH2D1A using alignment to 4 protein entries:     SH21A_HUMAN (see all proteins):
    SH2D1B    INPP5D    CHN2    INPPL1    CSK    BCR-ABL1 e19a2
    BCR-ABL1    BCR/ABL fusion    ABL2

    Find genes that share paralogs with SH2D1A           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 SH2D1A (see all 419)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0480054
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480052 Y C mis40--------
    VAR_0480184
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480182 F S mis40--------
    VAR_0480174
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480172 I T mis40--------
    VAR_0480064
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480062 H D mis40--------
    VAR_0480074
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480072 G D mis40--------
    VAR_0480124
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480122 C W mis40--------
    VAR_0480154
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480152 Y C mis40--------
    rs289351841,2,4
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0056142 mis40--------
    VAR_0056134
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0056132 T I mis40--------
    VAR_0480094
    Lymphoproliferative syndrome, X-linked, 1 (XLP1)4--see VAR_0480092 S R mis40--------

    HapMap Linkage Disequilibrium report for SH2D1A (123480132 - 123507010 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SH2D1A: --
    Human Gene Mutation Database (HGMD): SH2D1A
    Locus Specific Mutation Databases (LSDB): SH2D1A

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH2D1A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300490   
    OMIM disorders: 308240  
    UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880
  • Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by
    extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal
    mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 17 diseases for SH2D1A:    
    About MalaCards
    x-linked lymphoproliferative syndrome 1    mature b-cell neoplasm    lymphocytic vasculitis    vaginitis
    dysgammaglobulinemia    x-linked lymphoproliferative syndrome 2    lymphoproliferative disease, x-linked    infectious mononucleosis
    x-linked hyper igm syndrome    burkitt's lymphoma    oral candidiasis    hemophagocytic lymphohistiocytosis
    common variable immunodeficiency    chediak-higashi syndrome    limbic encephalitis    candidiasis
    vasculitis

    9 diseases from the University of Copenhagen DISEASES database for SH2D1A:
    Infectious mononucleosis     Hemophagocytic lymphohistiocytosis     Agammaglobulinemia     Dysgammaglobulinemia
    Lymphoma     Autoimmune lymphoproliferative syndrome     Chediak-Higashi syndrome     X-linked hyper IgM syndrome
    Wiskott-Aldrich syndrome

    Find genes that share disorders with SH2D1A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SH2D1A gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoproliferative syndrome 98.2 72 12629654 (3), 11159547 (2), 19570996 (2), 16720617 (2) (see all 54)
    x-linked lymphoproliferative syndrome 96.5 24 19595300 (2), 12545174 (1), 15992610 (1), 10975798 (1) (see all 17)
    dysgammaglobulinemia 91.1 2 16105760 (1), 11520777 (1)
    ebv infections 86 26 11493483 (3), 12224001 (2), 11049992 (2), 10598819 (1) (see all 17)
    infectious mononucleosis 85.5 8 11493483 (2), 15841490 (1), 16105760 (1), 11213803 (1) (see all 6)
    hypogammaglobulinemia 80.8 5 15761493 (1), 16788096 (1), 19903677 (1), 11493483 (1) (see all 5)
    lymphohistiocytosis hemophagocytic 77.1 1 11159547 (1)
    common variable immunodeficiency 70.4 5 15320910 (1), 18223336 (1), 18051214 (1), 12894850 (1)
    immunodeficiency 67 35 18212118 (1), 18815745 (1), 10203490 (1), 10898506 (1) (see all 25)
    familial hemophagocytic lymphohistiocytosis 66.9 2 18000860 (2)

    GeneTests: SH2D1A
    GeneReviews: SH2D1A
    Genetic Association Database (GAD): SH2D1A
    Human Genome Epidemiology (HuGE) Navigator: SH2D1A (3 documents)

    Export disorders for SH2D1A 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 SH2D1A gene, integrated from 10 sources (see all 188):
    (articles sorted by number of sources associating them with SH2D1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SH2D1A mutations in Japanese males with severe Epstein-Barr virus- associated illnesses. (PubMed id 11493483)1, 2, 4, 9 Sumazaki R.... Miyawaki T. (Blood 2001)
    2. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. (PubMed id 9774102)1, 2, 3, 9 Sayos J.... Terhorst C. (Nature 1998)
    3. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. (PubMed id 9771704)1, 2, 3, 9 Coffey A.J.... Bentley D.R. (Nat. Genet. 1998)
    4. Decreased expression of signaling lymphocytic-activation molecule- associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis. (PubMed id 11282995)1, 2, 9 Takei M.... Sawada S. (Int. Immunol. 2001)
    5. Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. (PubMed id 11477068)1, 2, 9 Morra M.... Terhorst C. (J. Biol. Chem. 2001)
    6. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. (PubMed id 15320910)1, 4, 9 Eastwood D....Gaspar H.B. (Clin. Exp. Immunol. 2004)
    7. SAP couples Fyn to SLAM immune receptors. (PubMed id 12545174)1, 2, 9 Chan B.... Eck M.J. (Nat. Cell Biol. 2003)
    8. Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. (PubMed id 10549287)1, 2, 9 Poy F.... Eck M.J. (Mol. Cell 1999)
    9. Defective NK cell activation in X-linked lymphoproliferative disease. (PubMed id 11034354)1, 2, 9 Benoit L.... Tan R. (J. Immunol. 2000)
    10. Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country. (PubMed id 19859091)1, 4 Ameratunga R. and Woon S.T. (N. Z. Med. J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4068 HGNC: 10820 AceView: SH2D1A Ensembl:ENSG00000183918 euGenes: HUgn4068
    ECgene: SH2D1A Kegg: 4068 H-InvDB: SH2D1A

    (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 SH2D1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SH2D1A Genetics and Cytogenetics in Oncology and Haematology
    SH2D1Abasehttp://bioinf.uta.fi/SH2D1Abase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SH2D1A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SH2D1A gene:
    Search GeneIP for patents involving SH2D1A

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



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