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Aliases for SH2D3C Gene

Aliases for SH2D3C Gene

  • SH2 Domain Containing 3C 2 3 5
  • SH2 Domain-Containing Eph Receptor-Binding Protein 1 3 4
  • Novel SH2-Containing Protein 3 3 4
  • SHEP1 3 4
  • NSP3 3 4
  • SH2 Domain-Containing Protein 3C 3
  • SH2 Domain-Containing 3C 2
  • PRO34088 3
  • ChAT 3

External Ids for SH2D3C Gene

Previous GeneCards Identifiers for SH2D3C Gene

  • GC09M121615
  • GC09M122147
  • GC09M123954
  • GC09M125876
  • GC09M127580
  • GC09M129540
  • GC09M130501
  • GC09M100117

Summaries for SH2D3C Gene

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. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and SH3/SH2 adaptor activity. An important paralog of this gene is BCAR3.

UniProtKB/Swiss-Prot for SH2D3C Gene

  • 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

Additional gene information for SH2D3C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2D3C Gene

Genomics for SH2D3C Gene

GeneHancer (GH) Regulatory Elements for SH2D3C Gene

Promoters and enhancers for SH2D3C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I127761 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.1 +18.3 18325 11.3 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZBTB7B YY1 TCF12 ZNF121 SH2D3C FPGS ENG LOC102723566 AK1 ST6GALNAC6 ST6GALNAC4 PIP5KL1 FAM129B SWI5
GH09I127775 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.5 +2.3 2260 13.9 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 SH2D3C CDK9 FPGS LOC102723566 SNORA65 RPL12 URM1 ZNF79 ZBTB34 TOR2A
GH09I127753 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.3 +30.2 30222 1.9 ZNF76 SIN3A ZNF335 GLIS2 ATF7 SP3 NFYC REST ZNF398 ZEB2 SH2D3C FPGS PTRH1 LOC102723566 TOR2A
GH09I127760 Promoter 0.5 EPDnew 550.3 +24.5 24508 0.1 SH2D3C AK1 ST6GALNAC6 LOC102723566 FPGS NAIF1 SLC25A25 TOR2A
GH09I127860 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 3.7 -76.8 -76759 3.7 HDGF PKNOX1 SMAD1 MLX ARNT ZNF766 E2F8 ZNF263 REST MEF2D NAIF1 ZNF79 ODF2 GLE1 SNORA65 ST6GALNAC6 LOC102723566 FPGS PTRH1 TTC16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SH2D3C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH2D3C gene promoter:

Genomic Locations for SH2D3C Gene

Genomic Locations for SH2D3C Gene
chr9:127,738,317-127,785,159
(GRCh38/hg38)
Size:
46,843 bases
Orientation:
Minus strand
chr9:130,500,596-130,541,048
(GRCh37/hg19)

Genomic View for SH2D3C Gene

Genes around SH2D3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2D3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH2D3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2D3C Gene

Proteins for SH2D3C Gene

  • Protein details for SH2D3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5H7-SH2D3_HUMAN
    Recommended name:
    SH2 domain-containing protein 3C
    Protein Accession:
    Q8N5H7
    Secondary Accessions:
    • A8K5S8
    • E9PG48
    • Q5HYE5
    • Q5JU31
    • Q6UY42
    • Q8N6X3
    • Q9Y2X5

    Protein attributes for SH2D3C Gene

    Size:
    860 amino acids
    Molecular mass:
    94411 Da
    Quaternary structure:
    • Interacts with PTK2B. Interacts with NEDD9/HEF1 (By similarity). Interacts (via C-terminus) with BCAR1/CAS.
    SequenceCaution:
    • Sequence=AAQ88456.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SH2D3C Gene

    Alternative splice isoforms for SH2D3C Gene

neXtProt entry for SH2D3C Gene

Post-translational modifications for SH2D3C Gene

No Post-translational modifications

No data available for DME Specific Peptides for SH2D3C Gene

Domains & Families for SH2D3C Gene

Gene Families for SH2D3C Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5H7

UniProtKB/Swiss-Prot:

SH2D3_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with SH2D3C: view

Function for SH2D3C Gene

Molecular function for SH2D3C Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for SH2D3C Gene

Gene Ontology (GO) - Molecular Function for SH2D3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 10187783
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 24728074
genes like me logo Genes that share ontologies with SH2D3C: view
genes like me logo Genes that share phenotypes with SH2D3C: view

Animal Models for SH2D3C Gene

MGI Knock Outs for SH2D3C:

Animal Model Products

CRISPR Products

miRNA for SH2D3C Gene

miRTarBase miRNAs that target SH2D3C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH2D3C Gene

Localization for SH2D3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH2D3C Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Associated with the membrane when EGF-stimulated. Found at ruffling membranes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH2D3C gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for SH2D3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SH2D3C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SH2D3C Gene

Pathways & Interactions for SH2D3C Gene

SuperPathways for SH2D3C Gene

No Data Available

Gene Ontology (GO) - Biological Process for SH2D3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007254 JNK cascade TAS 10187783
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0009967 positive regulation of signal transduction IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with SH2D3C: view

No data available for Pathways by source and SIGNOR curated interactions for SH2D3C Gene

Drugs & Compounds for SH2D3C Gene

No Compound Related Data Available

Transcripts for SH2D3C Gene

Unigene Clusters for SH2D3C Gene

SH2 domain containing 3C:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH2D3C Gene

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: - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - -
SP8: -
SP9: - - -
SP10: - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - -
SP14: - - - - -
SP15: - - -
SP16: -
SP17: -
SP18:
SP19: - - - - - - - - - - - - - - - -

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: - - -
SP6: -
SP7: - -
SP8: - -
SP9:
SP10:
SP11: -
SP12: - -
SP13: - -
SP14: -
SP15: - -
SP16: - -
SP17:
SP18:
SP19: - - - - - - - - - - -

Relevant External Links for SH2D3C Gene

GeneLoc Exon Structure for
SH2D3C
ECgene alternative splicing isoforms for
SH2D3C

Expression for SH2D3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH2D3C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH2D3C Gene

This gene is overexpressed in Whole Blood (x9.1).

Protein differential expression in normal tissues from HIPED for SH2D3C Gene

This gene is overexpressed in Lymph node (16.3), Peripheral blood mononuclear cells (14.7), CD8 Tcells (9.7), and Plasma (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SH2D3C Gene



Protein tissue co-expression partners for SH2D3C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH2D3C Gene:

SH2D3C

SOURCE GeneReport for Unigene cluster for SH2D3C Gene:

Hs.306412

mRNA Expression by UniProt/SwissProt for SH2D3C Gene:

Q8N5H7-SH2D3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SH2D3C Gene

  • Nervous system(4.7)
  • Pancreas(4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SH2D3C: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2D3C Gene

Orthologs for SH2D3C Gene

This gene was present in the common ancestor of animals.

Orthologs for SH2D3C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH2D3C 33 34
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia SH2D3C 33 34
  • 88.99 (n)
dog
(Canis familiaris)
Mammalia SH2D3C 33 34
  • 88.81 (n)
mouse
(Mus musculus)
Mammalia Sh2d3c 33 16 34
  • 85.5 (n)
rat
(Rattus norvegicus)
Mammalia Sh2d3c 33
  • 85.32 (n)
oppossum
(Monodelphis domestica)
Mammalia SH2D3C 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH2D3C 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH2D3C 33 34
  • 71.42 (n)
lizard
(Anolis carolinensis)
Reptilia SH2D3C 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh2d3c 33
  • 65.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia sh2d3c-prov 33
zebrafish
(Danio rerio)
Actinopterygii sh2d3ca 33 34
  • 64.43 (n)
sh2d3cb 34
  • 48 (a)
OneToMany
zgc56490 33
fruit fly
(Drosophila melanogaster)
Insecta CG9098 35 34
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10354 34
  • 25 (a)
OneToMany
Species where no ortholog for SH2D3C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SH2D3C Gene

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

Paralogs for SH2D3C Gene

Paralogs for SH2D3C Gene

(3) SIMAP similar genes for SH2D3C Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SH2D3C: view

Variants for SH2D3C Gene

Sequence variations from dbSNP and Humsavar for SH2D3C Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000112329 -- 127,753,032(-) T/C 5_prime_UTR_variant, intron_variant
rs1000138694 -- 127,777,958(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000254093 -- 127,746,424(-) C/T intron_variant
rs1000365933 -- 127,775,538(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000371394 -- 127,762,320(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SH2D3C Gene

Variant ID Type Subtype PubMed ID
dgv12879n54 CNV loss 21841781
esv3891727 CNV gain 25118596
nsv466571 CNV loss 19166990
nsv466573 CNV loss 19166990
nsv466575 CNV loss 19166990
nsv471323 CNV loss 18288195
nsv615369 CNV loss 21841781
nsv615371 CNV loss 21841781
nsv615373 CNV loss 21841781
nsv615374 CNV loss 21841781
nsv825094 CNV gain 20364138

Variation tolerance for SH2D3C Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH2D3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH2D3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2D3C Gene

Disorders for SH2D3C Gene

Additional Disease Information for SH2D3C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SH2D3C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH2D3C Gene

Publications for SH2D3C Gene

  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. (PMID: 10187783) Lu Y … Stewart TA (The Journal of biological chemistry 1999) 2 3 4 58
  2. NSP-Cas protein structures reveal a promiscuous interaction module in cell signaling. (PMID: 22081014) Mace PD … Riedl SJ (Nature structural & molecular biology 2011) 3 4 58
  3. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58

Products for SH2D3C Gene

Sources for SH2D3C Gene

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