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Aliases for CASS4 Gene

Aliases for CASS4 Gene

  • Cas Scaffold Protein Family Member 4 2 3
  • 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 Scaffold Protein Family Member 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphorelay sensor kinase activity. An important paralog of this gene is BCAR1.

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

GeneHancer (GH) Regulatory Elements for CASS4 Gene

Promoters and enhancers for CASS4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J056408 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 711.5 +5.6 5566 17 HNRNPUL1 PKNOX1 SMAD1 FOXA2 ARNT ZFP64 YBX1 YY1 POLR2B ZNF766 CASS4 RTF2 RPL39P CSTF1 ENSG00000280387 FAM210B GCNT7 FAM209B
GH20J056432 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 34.8 +22.8 22756 3.8 ZFHX2 EGR1 ZMYM3 ZNF24 SPI1 EGR2 CASS4 RTF2 RPL39P
GH20J056426 Enhancer 1.2 Ensembl ENCODE dbSUPER 29.5 +17.4 17378 5.8 HDAC1 NCOA2 TCF12 EGR1 FOS ETV6 CREM EGR2 SMARCA5 ZBTB2 CASS4 RTF2 RPL39P FAM209A FAM210B
GH20J056436 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.9 +29.3 29324 8.4 PKNOX1 FOXA2 EBF1 IRF4 RELA E2F1 GATA3 POLR2A NFATC1 EED CASS4 RTF2 FAM209A RPL39P
GH20J057388 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +983.8 983828 13.2 HDGF PKNOX1 SMAD1 ARNT NEUROD1 SIN3A DMAP1 YBX1 ZBTB7B IRF4 RBM38 PPP4R1L ENSG00000280387 ZBP1 LOC100291105 BMP7 CASS4 PMEPA1 MTRNR2L3 PIR61563
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASS4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASS4 gene promoter:
  • FAC1
  • Lmo2
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • Meis-1b
  • Meis-1a
  • Meis-1

Genomic Locations for CASS4 Gene

Genomic Locations for CASS4 Gene
48,840 bases
Plus strand
47,229 bases
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:
    Recommended name:
    Cas scaffolding protein family member 4
    Protein Accession:
    Secondary Accessions:
    • E1P5Z8
    • Q5QPD6
    • Q96K09
    • Q9BYL5

    Protein attributes for CASS4 Gene

    786 amino acids
    Molecular mass:
    87144 Da
    Quaternary structure:
    • Interacts (via SH3 domain) with PTK2/FAK1 (via C-terminus).
    • 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


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

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

Suggested Antigen Peptide Sequences for CASS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CAS 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

Clone 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

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:0005886 COLOCALIZES_WITH plasma membrane IBA --
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 --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA --
GO:0016477 cell migration IBA --
GO:0090527 actin filament reorganization IBA --
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:

Clone 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: - - -

Relevant External Links for CASS4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, 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:


SOURCE GeneReport for Unigene cluster for CASS4 Gene:


mRNA Expression by UniProt/SwissProt for CASS4 Gene:

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

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
(Pan troglodytes)
Mammalia CASS4 34 33
  • 98.98 (n)
(Bos Taurus)
Mammalia CASS4 34 33
  • 80.33 (n)
(Canis familiaris)
Mammalia CASS4 34 33
  • 79.81 (n)
(Mus musculus)
Mammalia Cass4 16 34 33
  • 74.47 (n)
(Rattus norvegicus)
Mammalia Cass4 33
  • 73.31 (n)
(Monodelphis domestica)
Mammalia CASS4 34
  • 54 (a)
(Ornithorhynchus anatinus)
Mammalia CASS4 34
  • 51 (a)
(Gallus gallus)
Aves CASS4 34 33
  • 58.13 (n)
(Anolis carolinensis)
Reptilia CASS4 34
  • 34 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cass4 33
  • 53.92 (n)
(Danio rerio)
Actinopterygii LOC100000938 33
  • 49.52 (n)
CASS4 34
  • 30 (a)
fruit fly
(Drosophila melanogaster)
Insecta p130CAS 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6681 34
  • 20 (a)
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

Gene Tree for CASS4 (if available)
Gene Tree for CASS4 (if available)
Evolutionary constrained regions (ECRs) for CASS4: view image

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 Variation AA Info Type
rs1000016814 -- 56,416,727(+) C/G intron_variant
rs1000057196 -- 56,446,883(+) G/T intron_variant
rs1000132329 -- 56,445,686(+) G/A intron_variant
rs1000150688 -- 56,440,759(+) A/G intron_variant
rs1000199055 -- 56,423,122(+) C/A 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)

Additional Variant Information for CASS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for CASS4 Gene

Additional Disease Information for 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 58
  2. CAS proteins in health and disease: an update. (PMID: 24962474) Nikonova AS … Golemis EA (IUBMB life 2014) 2 3 58
  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 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. 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 58

Products for CASS4 Gene

Sources for CASS4 Gene

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