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Aliases for CASS4 Gene

Aliases for CASS4 Gene

  • Cas Scaffolding Protein Family Member 4 2 3 5
  • HEF-Like Protein 2 3 4
  • HEF1-EFS-P130Cas-Like Protein 3 4
  • C20orf32 3 4
  • HEFL 3 4
  • HEPL 3 4
  • Chromosome 20 Open Reading Frame 32 2
  • HEF1-Efs-P130Cas-Like 2
  • CAS4 3

External Ids for CASS4 Gene

Previous HGNC Symbols for CASS4 Gene

  • C20orf32

Previous GeneCards Identifiers for CASS4 Gene

  • GC20P054421
  • GC20P054987
  • GC20P051772

Summaries for CASS4 Gene

GeneCards Summary for CASS4 Gene

CASS4 (Cas Scaffolding Protein Family Member 4) is a Protein Coding gene. GO annotations related to this gene include phosphorelay sensor kinase activity. An important paralog of this gene is NEDD9.

UniProtKB/Swiss-Prot for CASS4 Gene

  • Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASS4 Gene

Genomics for CASS4 Gene

Regulatory Elements for CASS4 Gene

Promoters for CASS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CASS4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASS4 Gene

Chromosome:
20
Start:
56,411,548 bp from pter
End:
56,460,387 bp from pter
Size:
48,840 bases
Orientation:
Plus strand

Genomic View for CASS4 Gene

Genes around CASS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASS4 Gene

Proteins for CASS4 Gene

  • Protein details for CASS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ75-CASS4_HUMAN
    Recommended name:
    Cas scaffolding protein family member 4
    Protein Accession:
    Q9NQ75
    Secondary Accessions:
    • E1P5Z8
    • Q5QPD6
    • Q96K09
    • Q9BYL5

    Protein attributes for CASS4 Gene

    Size:
    786 amino acids
    Molecular mass:
    87144 Da
    Quaternary structure:
    • Interacts (via SH3 domain) with PTK2/FAK1 (via C-terminus).
    SequenceCaution:
    • Sequence=CAC00655.1; Type=Frameshift; Positions=336, 342; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASS4 Gene

    Alternative splice isoforms for CASS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASS4 Gene

Proteomics data for CASS4 Gene at MOPED

Post-translational modifications for CASS4 Gene

Other Protein References for CASS4 Gene

No data available for DME Specific Peptides for CASS4 Gene

Domains & Families for CASS4 Gene

Gene Families for CASS4 Gene

Protein Domains for CASS4 Gene

Suggested Antigen Peptide Sequences for CASS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ75

UniProtKB/Swiss-Prot:

CASS4_HUMAN :
  • Contains 1 SH3 domain.
  • Belongs to the CAS family.
Domain:
  • Contains 1 SH3 domain.
Family:
  • Belongs to the CAS family.
genes like me logo Genes that share domains with CASS4: view

Function for CASS4 Gene

Molecular function for CASS4 Gene

UniProtKB/Swiss-Prot Function:
Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading.
genes like me logo Genes that share phenotypes with CASS4: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CASS4 Gene

Localization for CASS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASS4 Gene

Cytoplasm, cytoskeleton. Cell junction, focal adhesion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASS4 Gene COMPARTMENTS Subcellular localization image for CASS4 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for CASS4 Gene

Pathways & Interactions for CASS4 Gene

SuperPathways for CASS4 Gene

No Data Available

Interacting Proteins for CASS4 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000353462%0d%0a9606.ENSP00000427562%0d%0a9606.ENSP00000300574%0d%0a
Selected Interacting proteins: Q9NQ75-CASS4_HUMAN ENSP00000353462 for CASS4 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for CASS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0023014 signal transduction by protein phosphorylation IEA --
genes like me logo Genes that share ontologies with CASS4: view

No data available for Pathways by source and SIGNOR curated interactions for CASS4 Gene

Drugs & Compounds for CASS4 Gene

No Compound Related Data Available

Transcripts for CASS4 Gene

mRNA/cDNA for CASS4 Gene

(5) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASS4 Gene

Cas scaffolding protein family member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASS4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5:
SP6:

Relevant External Links for CASS4 Gene

GeneLoc Exon Structure for
CASS4
ECgene alternative splicing isoforms for
CASS4

Expression for CASS4 Gene

mRNA expression in normal human tissues for CASS4 Gene

mRNA differential expression in normal tissues according to GTEx for CASS4 Gene

This gene is overexpressed in Lung (x10.9) and Whole Blood (x10.8).

Protein differential expression in normal tissues from HIPED for CASS4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (55.0) and Platelet (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASS4 Gene



SOURCE GeneReport for Unigene cluster for CASS4 Gene Hs.473144

mRNA Expression by UniProt/SwissProt for CASS4 Gene

Q9NQ75-CASS4_HUMAN
Tissue specificity: Expressed abundantly in lung and spleen. Also highly expressed in ovarian and leukemia cell lines.
genes like me logo Genes that share expression patterns with CASS4: view

Protein tissue co-expression partners for CASS4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CASS4 Gene

Orthologs for CASS4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASS4 35
  • 98.98 (n)
  • 98.35 (a)
CASS4 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASS4 36
  • 66 (a)
OneToOne
CASS4 35
  • 80.33 (n)
  • 72.29 (a)
dog
(Canis familiaris)
Mammalia CASS4 35
  • 79.81 (n)
  • 72.95 (a)
CASS4 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cass4 16
Cass4 35
  • 74.47 (n)
  • 66.93 (a)
Cass4 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASS4 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASS4 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cass4 35
  • 73.31 (n)
  • 67.37 (a)
chicken
(Gallus gallus)
Aves CASS4 35
  • 58.13 (n)
  • 47.19 (a)
CASS4 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASS4 36
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cass4 35
  • 53.92 (n)
  • 42.36 (a)
zebrafish
(Danio rerio)
Actinopterygii CASS4 36
  • 30 (a)
OneToOne
LOC100000938 35
  • 49.52 (n)
  • 39.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta p130CAS 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6681 36
  • 20 (a)
OneToMany
Species with no ortholog for CASS4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 CASS4 Gene

ENSEMBL:
Gene Tree for CASS4 (if available)
TreeFam:
Gene Tree for CASS4 (if available)

Paralogs for CASS4 Gene

Paralogs for CASS4 Gene

(1) SIMAP similar genes for CASS4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CASS4: view

Variants for CASS4 Gene

Sequence variations from dbSNP and Humsavar for CASS4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs16979936 - 56,452,648(+) TGTAA(A/G)AGAAT intron-variant, reference, missense
rs6069755 - 56,453,062(+) TTCCA(A/C/T)TAAGC intron-variant, reference, missense
rs35031530 - 56,458,364(-) CGAAG(A/G)CTGAG reference, missense
rs7272702 - 56,458,726(+) CGGCA(G/T)TTCAG reference, missense
rs1321458 -- 56,440,000(-) AAGGC(C/T)TGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASS4 Gene

Variant ID Type Subtype PubMed ID
nsv834013 CNV Gain 17160897
nsv525425 CNV Gain 19592680
nsv518442 CNV Gain 19592680
dgv249n21 CNV Loss 19592680
nsv525175 CNV Loss 19592680
esv2675000 CNV Deletion 23128226
esv29379 CNV Loss 19812545
esv267778 CNV Insertion 20981092

Variation tolerance for CASS4 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASS4 Gene

HapMap Linkage Disequilibrium report
CASS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASS4 Gene

Disorders for CASS4 Gene

Relevant External Links for CASS4

Genetic Association Database (GAD)
CASS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASS4

No disorders were found for CASS4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASS4 Gene

Publications for CASS4 Gene

  1. Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members. (PMID: 26119091) Deneka A. … Golemis E.A. (Gene 2015) 2 3 67
  2. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. (PMID: 25367360) Li Q. … Guggenheim J.A. (Hum. Genet. 2014) 3
  3. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. (PMID: 24162737) Lambert J.C. … Amouyel P. (Nat. Genet. 2013) 3
  4. Overexpression and cytoplasmic accumulation of Hepl is associated with clinicopathological parameters and poor prognosis in non-small cell lung cancer. (PMID: 23001926) Miao Y. … Wang E.H. (Tumour Biol. 2013) 3
  5. Charting the molecular network of the drug target Bcr-Abl. (PMID: 19380743) Brehme M. … Superti-Furga G. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3

Products for CASS4 Gene

Sources for CASS4 Gene

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