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

SH2D3C Gene

protein-coding   GIFtS: 59
GCID: GC09M130501

SH2 Domain Containing 3C

(Previous name: SH2 domain-containing 3C)
  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)
About This Section

Aliases
SH2 Domain Containing 3C1 2     SH2 Domain-Containing 3C1
Novel SH2-Containing Protein 32 3     CHAT2
NSP32 3     PRO340882
SHEP12 3     SH2 Domain-Containing Protein 3C2
SH2 Domain-Containing Eph Receptor-Binding Protein 12 3     

External Ids:    HGNC: 168841   Entrez Gene: 100442   Ensembl: ENSG000000953707   OMIM: 6047225   UniProtKB: Q8N5H73   

Export aliases for SH2D3C gene to outside databases

Previous GC identifers: GC09M121615 GC09M122147 GC09M123954 GC09M125876 GC09M127580 GC09M129540 GC09M100117


(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 SH2D3C Gene:
This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The
encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like
domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov
2011)

GeneCards Summary for SH2D3C Gene: 
SH2D3C (SH2 domain containing 3C) is a protein-coding gene. Diseases associated with SH2D3C include western equine encephalitis, and eastern equine encephalitis. GO annotations related to this gene include SH3/SH2 adaptor activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is SH2D3A.

UniProtKB/Swiss-Prot: SH2D3_HUMAN, Q8N5H7
Function: Eph receptor-binding protein which may be a positive regulator of TCR signaling. Binding to BCAR1 is
required to induce membrane ruffling and promote EGF-dependent cell migration (By similarity)

Gene Wiki entry for SH2D3C 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH2D3C gene promoter:
         p53   p300   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SH2D3C promoter sequence
   Search SABiosciences Chromatin IP Primers for SH2D3C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2D3C


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q33.1-q33.3

SH2D3C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D3C gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M130501:  view genomic region     (about GC identifiers)

Start:
130,500,596 bp from pter      End:
130,541,048 bp from pter
Size:
40,453 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SH2D3_HUMAN, Q8N5H7 (See protein sequence)
Recommended Name: SH2 domain-containing protein 3C  
Size: 860 amino acids; 94411 Da
Subunit: Interacts with PTK2B. Interacts with NEDD9/HEF1 (By similarity). Interacts (via C-terminus) with
BCAR1/CAS
Subcellular location: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity).
Note=Associated with the membrane when EGF-stimulated. Found at ruffling membranes (By similarity)
Sequence caution: Sequence=AAQ88456.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SH2D3C:
3T6G (3D)    
Secondary accessions: A8K5S8 E9PG48 Q5HYE5 Q5JU31 Q6UY42 Q8N6X3 Q9Y2X5
Alternative splicing: 6 isoforms:  Q8N5H7-1   Q8N5H7-2   Q8N5H7-3   Q8N5H7-4   Q8N5H7-5   Q8N5H7-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH2D3C: NX_Q8N5H7

Explore proteomics data for SH2D3C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N5H7

  • SH2D3C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH2D3C Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001136003.1  NP_001136004.1  NP_001136005.1  NP_001136006.1  NP_001239263.1  NP_005480.2  NP_733745.1  

    ENSEMBL proteins: 
     ENSP00000362374   ENSP00000388536   ENSP00000317817   ENSP00000401641   ENSP00000413760  
     ENSP00000362373   ENSP00000362371   ENSP00000394632  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SH2D3C 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IEA--

    SH2D3C for ontologies           About GeneDecksing



    SH2D3C Antibody Products: 
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    Cloud-Clone Corp. ELISAs for SH2D3C 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SH2D: SH2 domain containing

    3 InterPro protein domains:
     IPR000980 SH2
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25

    Graphical View of Domain Structure for InterPro Entry Q8N5H7

    ProtoNet protein and cluster: Q8N5H7

    2 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: SH2D3_HUMAN, Q8N5H7
    Domain: The C-terminal Cdc25-homology/Ras-GEF domain adopts a closed conformation rendering it incapable of
    carrying out canonical exchange factor function, this closed conformation is required for interaction with BCAR1
    Similarity: Contains 1 Ras-GEF domain
    Similarity: Contains 1 SH2 domain


    SH2D3C 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SH2D3_HUMAN, Q8N5H7
    Function: Eph receptor-binding protein which may be a positive regulator of TCR signaling. Binding to BCAR1 is
    required to induce membrane ruffling and promote EGF-dependent cell migration (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS10187783
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
         
    SH2D3C for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SH2D3C:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sh2d3c):
     behavior/neurological  cellular  endocrine/exocrine gland  hematopoietic system  immune system 
     mortality/aging  nervous system  no phenotypic analysis  reproductive system 

    SH2D3C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh2d3ctm1.1Ebp for SH2D3C

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SH2D3C 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SH2D3C 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SH2D3C 

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SH2D3C:
    hsa-miR-561 hsa-miR-324-3p hsa-miR-128 hsa-miR-3681* hsa-miR-548t hsa-miR-342-5p hsa-miR-493* hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidSH2D3C 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2D3C


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SH2D3C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway


    1 BioSystems Pathway for SH2D3C
        EGFR1 Signaling Pathway



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH2D3C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for SH2D3C (Q8N5H72, 3 ENSP000003178174) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EFSO432812, 3, ENSP000002167334MINT-66753 I2D: score=5 STRING: ENSP00000216733
    SNCAIPQ9Y6H52, 3, ENSP000002613684MINT-64300 I2D: score=4 STRING: ENSP00000261368
    BCAR1P569453, ENSP000001623304I2D: score=2 STRING: ENSP00000162330
    NEDD9Q145113, ENSP000003687594I2D: score=2 STRING: ENSP00000368759
    CARD11Q9BXL73, ENSP000003801504I2D: score=1 STRING: ENSP00000380150
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007254JNK cascade TAS10187783
    GO:0007264small GTPase mediated signal transduction IEA--

    SH2D3C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SH2D3C (SH2D3)

    Search CenterWatch for drugs/clinical trials and news about SH2D3C / SH2D3

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SH2D3C gene (7 alternative transcripts): 
    NM_001142531.1  NM_001142532.1  NM_001142533.1  NM_001142534.1  NM_001252334.1  NM_005489.3  NM_170600.2  

    Unigene Cluster for SH2D3C:

    SH2 domain containing 3C
    Hs.306412  [show with all ESTs]
    Unigene Representative Sequence: NM_170600
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373277(uc004bsa.3) ENST00000420366(uc004bry.3) ENST00000314830(uc004bsd.1 uc004bsc.3)
    ENST00000468969 ENST00000484160 ENST00000471939 ENST00000440630 ENST00000464239
    ENST00000488685 ENST00000414380 ENST00000373276(uc004bsb.3) ENST00000373274(uc010mxo.3)
    ENST00000429553(uc004brz.4 uc011mak.2)
    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SH2D3C:
    hsa-miR-561 hsa-miR-324-3p hsa-miR-128 hsa-miR-3681* hsa-miR-548t hsa-miR-342-5p hsa-miR-493* hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidSH2D3C 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH2D3C
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    Additional mRNA sequence: 

    AF124251.1 AJ420431.1 AK000861.1 AK056068.1 AK096983.1 AK128287.1 AK291393.1 AK292041.1 
    AK292718.1 AK294386.1 AK311510.1 AY358089.1 AY358440.1 BC027962.1 BC032365.1 BX647905.1 

    16 DOTS entries:

    DT.40306903  DT.95089397  DT.100787946  DT.412045  DT.95089374  DT.101982497  DT.101956083  DT.121174286 
    DT.97799195  DT.121174248  DT.121174254  DT.121174275  DT.92421650  DT.92421651  DT.97839395  DT.91960749 

    24/109 AceView cDNA sequences (see all 109):

    BU738118 BQ693987 BX647905 BG757892 CB269008 BI833455 CA389145 AW264171 
    AI799905 AI239541 AI814519 BI821749 BM542752 AI676011 AI472242 BM457354 
    AK056068 BI821487 AA234642 AI658523 BC027962 BI489573 AK096983 NM_005489 

    GeneLoc Exon Structure

    5/19 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D3C (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^
    SP1:                          -     -                             -     -     -     -     -     -     -     -     -           -     -     -     -     -     -   
    SP2:                                                                                      -     -     -     -     -           -     -     -     -     -     -   
    SP3:                                                                                                                                                  -     -   
    SP4:                          -     -           -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:                                                                                                              -           -     -     -     -     -     -   

    ExUns: 13a · 13b · 13c ^ 14a · 14b · 14c · 14d · 14e · 14f · 14g ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
    SP1:  -           -                                         -                                                               
    SP2:  -           -                                         -                                                               
    SP3:  -           -                                         -                                                               
    SP4:  -     -     -     -     -     -     -     -     -     -     -     -     -                                             
    SP5:  -           -                                         -                                                               


    ECgene alternative splicing isoforms for SH2D3C

    (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

    SH2D3C expression in normal human tissues (normalized intensities)      SH2D3C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTCTTT
    SH2D3C Expression
    About this image


    SH2D3C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 19 entries
             PureStem endothelial progenitor 30-SM2-1
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
             Human Cardiac Microvascular Endothelial Cells (HCMEC)   
     
     Lymph (Cardiovascular System)    fully expand to see all 3 entries
             Human Lymphatic Endothelial Cells (HLEC)   
             LYMPH NODE   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Human Cardiac Microvascular Endothelial Cells (HCMEC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Human Umbilical Vein Endothelial Cells (HUVEC) (ScienceCell)   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             PureStem endothelial Progenitor 30-SM2-3

    See SH2D3C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH2D3C

    SOURCE GeneReport for Unigene cluster: Hs.306412

    UniProtKB/Swiss-Prot: SH2D3_HUMAN, Q8N5H7
    Tissue specificity: Ubiquitously expressed

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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 SH2D3C gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2d3c1 , 5 SH2 domain containing 3C1, 5 85.6(n)1
    87(a)1
      2 (22.09 cM)5
    273871  NM_013781.31  NP_038809.11 
     327210555 
    chicken
    (Gallus gallus)
    Aves SH2D3C1 SH2 domain containing 3C 71.86(n)
    71.58(a)
      417225  XM_415508.3  XP_415508.3 
    lizard
    (Anolis carolinensis)
    Reptilia SH2D3C6
    SH2 domain containing 3C
    58(a)
    1 ↔ 1
    GL344184.1(2372-52076)
    African clawed frog
    (Xenopus laevis)
    Amphibia sh2d3c-prov2 SH2 domain containing 3C 74.88(n)    BC041733.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564902 similar to SH2 domain containing 3C 72.3(n)   394051  BC049321.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90981 , 3 SH3/SH2 adaptor protein3
    CG90981
    35(a)3
    46.86(n)1
    37.4(a)1
      26B33
    338401  NM_135135.31  NP_608979.21 


    ENSEMBL Gene Tree for SH2D3C (if available)
    TreeFam Gene Tree for SH2D3C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH2D3C gene
    SH2D3A2  BCAR32  
    3 SIMAP similar genes for SH2D3C using alignment to 4 protein entries:     SH2D3_HUMAN (see all proteins):
    SHC3    BCAR3    SH2D3A

    SH2D3C 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) 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

    10/829 SNPs in SH2D3C are shown (see all 829)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405101631,2
    C--100136420(+) ACCCA-/GATGAT
    GATGATGAT
    GATGA
    5 -- int10--------
    rs120022691,2
    C,H--100136453(+) atgatG/Tatgat 5 -- int10--------
    rs592746901,2
    C--100136453(+) ATGAT-/ATT   
      ATT
    /GA
    TGATG
    10 -- int1 cds10--------
    rs107604961,2
    C,A,H--100136462(+) ATGATT/GATTAT 5 -- int13Minor allele frequency- G:0.20NA CSA 5
    rs668275621,2
    C--130501437(+) TTTTTT/-CTTTT 7 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs1885108371,2
    --130513638(+) CTCACA/TGCAAG 7 -- ds50010--------
    rs1181315761,2
    F--130513643(+) AGCAAG/AGCTTT 7 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1127737771,2
    F--130513757(+) TCTTGG/ATAAAT 7 -- ds50012Minor allele frequency- A:0.07CSA WA 120
    rs1450055121,2
    --130513867(+) TTCTAC/GCCCAG 7 -- ds50010--------
    rs1487339791,2
    C--130513878(+) GAGCCC/TGAGAG 7 -- ds50010--------

    HapMap Linkage Disequilibrium report for SH2D3C (130500596 - 130541048 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for SH2D3C (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893870CNV Loss21882294
    nsv466571CNV Loss19166990
    dgv8288n71CNV Loss21882294
    nsv893868CNV Loss21882294
    nsv893865CNV Loss21882294
    nsv466573CNV Loss19166990
    nsv471323CNV Loss18288195
    nsv893867CNV Loss21882294
    dgv8287n71CNV Loss21882294
    nsv466575CNV Loss19166990

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    (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.)
    About This Section
    OMIM gene information: 604722    OMIM disorders: --

    11 diseases for SH2D3C:    About MalaCards
    western equine encephalitis    eastern equine encephalitis    venezuelan equine encephalitis    chikungunya
    encephalitis    gastroenteritis    cleft lip    diarrhea
    amyotrophic lateral sclerosis    lateral sclerosis    breast cancer

    6 diseases from the University of Copenhagen DISEASES database for SH2D3C:
    Venezuelan equine encephalitis     Chikungunya     Severe acute respiratory syndrome     Gastroenteritis
    Eastern equine encephalitis     Diarrhea

    SH2D3C for disorders           About GeneDecksing

    Genetic Association Database (GAD): SH2D3C
    Human Genome Epidemiology (HuGE) Navigator: SH2D3C (1 document)

    Export disorders for SH2D3C 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 SH2D3C gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with SH2D3C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NSP1 defines a novel family of adaptor proteins linking integrin and tyrosine kinase receptors to the c-Jun N-terminal kinase/stress- activated protein kinase signaling pathway. (PubMed id 10187783)1, 2, 3 Lu Y.... Stewart T.A. (1999)
    2. NSP-Cas protein structures reveal a promiscuous inter action module in cell signaling. (PubMed id 22081014)1, 2 Mace P.D....Riedl S.J. (2011)
    3. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1, 4 Letra A....Vieira A.R. (2010)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Genetic variants associated with disordered eating. (PubMed id 23568457)1 Wade T.D....Martin N.G. (2013)
    9. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
    10. AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology. (PubMed id 17427198)1 Near R.I....Lerner A. (2007)

    (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: 10044 HGNC: 16884 AceView: SH2D3C Ensembl:ENSG00000095370 euGenes: HUgn10044
    ECgene: SH2D3C H-InvDB: SH2D3C

    (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 SH2D3C 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 SH2D3C gene:
    Search GeneIP for patents involving SH2D3C

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



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