Aliases for SHC4 Gene

Aliases for SHC4 Gene

  • SHC Adaptor Protein 4 2 3 5
  • Rai-Like Protein 2 3 4
  • Src Homology 2 Domain-Containing-Transforming Protein C4 3 4
  • SHC (Src Homology 2 Domain Containing) Family, Member 4 2 3
  • SHC-Transforming Protein 4 3 4
  • SHC-Transforming Protein D 3 4
  • SH2 Domain Protein C4 3 4
  • HShcD 3 4
  • RaLP 3 4
  • SHCD 3 4

External Ids for SHC4 Gene

Previous GeneCards Identifiers for SHC4 Gene

  • GC15M046904
  • GC15M049115
  • GC15M025948

Summaries for SHC4 Gene

GeneCards Summary for SHC4 Gene

SHC4 (SHC Adaptor Protein 4) is a Protein Coding gene. Diseases associated with SHC4 include Obsessive-Compulsive Personality Disorder and Fibrous Meningioma. Among its related pathways are Ras signaling pathway and Gastric cancer. Gene Ontology (GO) annotations related to this gene include protein kinase binding and receptor tyrosine kinase binding. An important paralog of this gene is SHC1.

UniProtKB/Swiss-Prot Summary for SHC4 Gene

  • Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1.

Additional gene information for SHC4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHC4 Gene

Genomics for SHC4 Gene

GeneHancer (GH) Regulatory Elements for SHC4 Gene

Promoters and enhancers for SHC4 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
GH15J048962 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 451 2.1 JUND FOS CTCF ZNF10 ZBTB26 MXI1 OSR2 DEK WT1 NFIC SHC4 FAM227B ENSG00000259602
GH15J048925 Enhancer 1.3 FANTOM5 Ensembl ENCODE 29.7 +38.0 37983 1.1 RBAK JUND FOS ZNF639 ZNF10 REST ZNF623 AFF1 TARDBP CTBP1 SHC4 ENSG00000259602 piR-50444-128
GH15J048878 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.9 +85.1 85118 3.2 ZNF217 EP300 SIN3A MYC NRF1 PHF8 TEAD4 ZFX ZNF639 ZNF10 EID1 lnc-CEP152-1 lnc-CEP152-2 SHC4
GH15J049043 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -81.5 -81482 4 HNRNPK FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A POLR2G SP1 PHF8 SECISBP2L lnc-COPS2-6 SHC4 ENSG00000259488 DTWD1 FAM227B RN7SL577P RF00017-1780 lnc-COPS2-5
GH15J048939 Enhancer 1 Ensembl ENCODE 12.3 +23.6 23590 2.7 SP1 JUND FOS ZNF639 EP300 TRIM22 ATF2 BCL11A TCF12 CREB1 SHC4 SECISBP2L ENSG00000259602
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHC4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHC4

Top Transcription factor binding sites by QIAGEN in the SHC4 gene promoter:
  • Bach2
  • E47
  • HOXA9
  • HOXA9B
  • HSF1 (long)
  • HSF1short
  • Meis-1
  • Meis-1b
  • RP58
  • Tal-1beta

Genomic Locations for SHC4 Gene

Genomic Locations for SHC4 Gene
chr15:48,823,737-48,963,919
(GRCh38/hg38)
Size:
140,183 bases
Orientation:
Minus strand
chr15:49,115,932-49,255,641
(GRCh37/hg19)
Size:
139,710 bases
Orientation:
Minus strand

Genomic View for SHC4 Gene

Genes around SHC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHC4 Gene

Proteins for SHC4 Gene

  • Protein details for SHC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6S5L8-SHC4_HUMAN
    Recommended name:
    SHC-transforming protein 4
    Protein Accession:
    Q6S5L8
    Secondary Accessions:
    • Q6UXQ3
    • Q8IYW3

    Protein attributes for SHC4 Gene

    Size:
    630 amino acids
    Molecular mass:
    68785 Da
    Quaternary structure:
    • Interacts (via PID domain) with phosphorylated MUSK (via NPXY motif); undergoes tyrosine phosphorylation downstream of activated MUSK. Interacts with GRB2; the interaction is dependent of Tyr-424 phosphorylation and increased by EGF.

    Alternative splice isoforms for SHC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHC4 Gene

Post-translational modifications for SHC4 Gene

  • Phosphorylated; the phosphorylation is enhanced by EGF. Phosphorylation at Tyr-424 is required for the interaction with GRB2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHC4 Gene

No data available for DME Specific Peptides for SHC4 Gene

Domains & Families for SHC4 Gene

Gene Families for SHC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SHC4 Gene

Blocks:
  • Phosphotyrosine interaction domain
  • SHC phosphotyrosine interaction domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHC4 Gene

GenScript: Design optimal peptide antigens:
  • Src homology 2 domain-containing-transforming protein C4 (SHC4_HUMAN)
genes like me logo Genes that share domains with SHC4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SHC4 Gene

Function for SHC4 Gene

Molecular function for SHC4 Gene

UniProtKB/Swiss-Prot Function:
Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1.

Phenotypes From GWAS Catalog for SHC4 Gene

Gene Ontology (GO) - Molecular Function for SHC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24658140
GO:0019901 protein kinase binding IBA 21873635
GO:0019904 protein domain specific binding IEA --
GO:0030971 receptor tyrosine kinase binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with SHC4: view
genes like me logo Genes that share phenotypes with SHC4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHC4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHC4 Gene

Localization for SHC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHC4 Gene

Cell junction, synapse, postsynaptic cell membrane. Note=Colocalized with MUSK at the neuromuscular junction. {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 SHC4 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SHC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with SHC4: view

Pathways & Interactions for SHC4 Gene

genes like me logo Genes that share pathways with SHC4: view

Gene Ontology (GO) - Biological Process for SHC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0010468 regulation of gene expression IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0048863 stem cell differentiation IEA --
genes like me logo Genes that share ontologies with SHC4: view

No data available for SIGNOR curated interactions for SHC4 Gene

Drugs & Compounds for SHC4 Gene

No Compound Related Data Available

Transcripts for SHC4 Gene

mRNA/cDNA for SHC4 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHC4

Alternative Splicing Database (ASD) splice patterns (SP) for SHC4 Gene

No ASD Table

Relevant External Links for SHC4 Gene

GeneLoc Exon Structure for
SHC4

Expression for SHC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHC4 Gene

mRNA differential expression in normal tissues according to GTEx for SHC4 Gene

This gene is overexpressed in Nerve - Tibial (x8.4) and Artery - Coronary (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SHC4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHC4

SOURCE GeneReport for Unigene cluster for SHC4 Gene:

Hs.642615

mRNA Expression by UniProt/SwissProt for SHC4 Gene:

Q6S5L8-SHC4_HUMAN
Tissue specificity: Only expressed in melanomas. Weakly expressed in normal melanocytes and benign nevi. Highly expressed at the transition from radial growth phase to vertical growth phase and metastatic melanomas, when tumor cells acquire migratory competence and invasive potential.

Evidence on tissue expression from TISSUES for SHC4 Gene

  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with SHC4: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHC4 Gene

Orthologs for SHC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHC4 31 30
  • 99.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SHC4 31 30
  • 90.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SHC4 31 30
  • 89.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Shc4 17 31 30
  • 83.6 (n)
rat
(Rattus norvegicus)
Mammalia Shc4 30
  • 83.01 (n)
oppossum
(Monodelphis domestica)
Mammalia SHC4 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHC4 31 30
  • 70.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHC4 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shc4 30
  • 62.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011463 30
  • 54.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Shc 31 30
  • 53.86 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea shc-1 31
  • 29 (a)
OneToMany
Species where no ortholog for SHC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for SHC4 Gene

ENSEMBL:
Gene Tree for SHC4 (if available)
TreeFam:
Gene Tree for SHC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHC4: view image

Paralogs for SHC4 Gene

Paralogs for SHC4 Gene

(4) SIMAP similar genes for SHC4 Gene using alignment to 4 proteins:

  • SHC4_HUMAN
  • F5H5M1_HUMAN
  • H0YLU6_HUMAN
  • H0YLZ2_HUMAN
genes like me logo Genes that share paralogs with SHC4: view

Variants for SHC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHC4 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs16961728 - p.Gln400His
rs17856990 - p.Lys244Glu
rs17856991 - p.Asn52Asp
rs17856992 - p.Asp447Gly

Additional dbSNP identifiers (rs#s) for SHC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SHC4 Gene

Variant ID Type Subtype PubMed ID
dgv451e214 CNV loss 21293372
esv3310162 CNV mobile element insertion 20981092
esv3327760 CNV insertion 20981092
esv3366507 CNV insertion 20981092
esv3636420 CNV gain 21293372
nsv1048726 CNV loss 25217958
nsv1113708 CNV deletion 24896259
nsv476529 CNV novel sequence insertion 20440878
nsv477621 CNV novel sequence insertion 20440878
nsv569339 CNV loss 21841781
nsv827330 CNV loss 20364138
nsv833001 CNV gain 17160897

Variation tolerance for SHC4 Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHC4 Gene

Disorders for SHC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
obsessive-compulsive personality disorder
  • anankastic personality disorder
fibrous meningioma
  • fibroblastic meningioma
- elite association - COSMIC cancer census association via MalaCards
Search SHC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SHC4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SHC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHC4 Gene

Publications for SHC4 Gene

  1. Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples. (PMID: 21621269) Aragam N … Pan Y (Journal of affective disorders 2011) 3 41 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase. (PMID: 17452444) Jones N … Pawson T (Molecular and cellular biology 2007) 3 4 54
  4. RaLP, a new member of the Src homology and collagen family, regulates cell migration and tumor growth of metastatic melanomas. (PMID: 17409413) Fagiani E … Lanfrancone L (Cancer research 2007) 3 4 54
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54

Products for SHC4 Gene

Sources for SHC4 Gene