Free for academic non-profit institutions. Other users need a Commercial license

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.

Additional gene information for CASS4 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for CASS4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H056408 1.9 FANTOM5 Ensembl ENCODE dbSUPER 61.5 +5.6 5567 16 HNRNPUL1 PKNOX1 FOXA2 ARNT ZFP64 YBX1 YY1 ZNF766 CBX5 FOS CASS4 RTFDC1 RPL39P CSTF1 ENSG00000280387 FAM210B GCNT7 FAM209B
GH20H056432 1.4 FANTOM5 Ensembl ENCODE dbSUPER 34.8 +22.8 22757 3 ZFHX2 EGR1 ZMYM3 ZNF24 MAFK SPI1 EGR2 CASS4 RTFDC1 RPL39P
GH20H056426 1.4 Ensembl ENCODE dbSUPER 29.5 +17.4 17379 5 HDAC1 TBL1XR1 TCF12 GATA2 EGR1 FOS ETV6 CREM EGR2 SMARCA5 CASS4 RTFDC1 RPL39P FAM209A FAM210B
GH20H056436 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.9 +29.3 29324 8 PKNOX1 FOXA2 TBL1XR1 EBF1 RELA E2F1 GATA3 POLR2A EED SCRT2 CASS4 RTFDC1 FAM209A RPL39P
GH20H057388 2 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +983.8 983828 13 HDGF PKNOX1 ARNT SIN3A DMAP1 YBX1 ZBTB7B ZNF766 ZNF207 ZNF143 ZBP1 PPP4R1L ENSG00000280387 LOC100291105 BMP7 CASS4 RBM38 PMEPA1 MTRNR2L3 PIR61563
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASS4 on UCSC Golden Path with GeneCards custom track

Promoters for CASS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139097 752 201 HNRNPUL1 FOXA2 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 CBX5 GATA2

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

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

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

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 :
  • Belongs to the CAS family.
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.

Phenotypes From GWAS Catalog for CASS4 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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
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 CASS4 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for CASS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CASS4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CASS4 Gene

Pathways & Interactions for CASS4 Gene

SuperPathways for CASS4 Gene

No Data Available

Interacting Proteins for CASS4 Gene

Gene Ontology (GO) - Biological Process for CASS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CASS4 Gene



Protein tissue co-expression partners for CASS4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASS4 Gene:

CASS4

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.

Evidence on tissue expression from TISSUES for CASS4 Gene

  • Blood(4.5)
genes like me logo Genes that share expression patterns with CASS4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.98 (n)
cow
(Bos Taurus)
Mammalia CASS4 33 34
  • 80.33 (n)
dog
(Canis familiaris)
Mammalia CASS4 33 34
  • 79.81 (n)
mouse
(Mus musculus)
Mammalia Cass4 33 16 34
  • 74.47 (n)
rat
(Rattus norvegicus)
Mammalia Cass4 33
  • 73.31 (n)
oppossum
(Monodelphis domestica)
Mammalia CASS4 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASS4 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASS4 33 34
  • 58.13 (n)
lizard
(Anolis carolinensis)
Reptilia CASS4 34
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cass4 33
  • 53.92 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100000938 33
  • 49.52 (n)
CASS4 34
  • 30 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta p130CAS 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6681 34
  • 20 (a)
OneToMany
Species where no ortholog for CASS4 was found in the sources mined by GeneCards:
  • 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
rs1000016814 -- 56,416,727(+) AATTT(C/G)TGATA intron-variant
rs1000057196 -- 56,446,883(+) AGCAG(G/T)CTCTG intron-variant
rs1000132329 -- 56,445,686(+) ACATC(A/G)TGGGC intron-variant
rs1000150688 -- 56,440,759(+) CATCA(A/G)CCATT intron-variant
rs1000199055 -- 56,423,122(+) TTAGA(A/C)CCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv249n21 CNV loss 19592680
dgv787e214 CNV gain 21293372
esv2675000 CNV deletion 23128226
esv29379 CNV loss 19812545
esv3303499 CNV mobile element insertion 20981092
esv3368469 CNV insertion 20981092
esv3646189 CNV loss 21293372
esv3646191 CNV loss 21293372
esv3646192 CNV loss 21293372
nsv518442 CNV gain 19592680
nsv525175 CNV loss 19592680
nsv525425 CNV gain 19592680
nsv834013 CNV gain 17160897
nsv964412 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 EA (Gene 2015) 2 3 60
  2. CAS proteins in health and disease: an update. (PMID: 24962474) Nikonova AS … Golemis EA (IUBMB life 2014) 2 3 60
  3. A novel Cas family member, HEPL, regulates FAK and cell spreading. (PMID: 18256281) Singh MK … Golemis EA (Molecular biology of the cell 2008) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for CASS4 Gene

Sources for CASS4 Gene

Content
Loading form....