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Aliases for CASC4 Gene

Aliases for CASC4 Gene

  • Cancer Susceptibility 4 2 3 5
  • Cancer Susceptibility Candidate Gene 4 Protein 3 4
  • Cancer Susceptibility Candidate 4 2 3
  • Gene Associated With HER-2/Neu Overexpression 3
  • Protein CASC4 3
  • H63 3

External Ids for CASC4 Gene

Previous GeneCards Identifiers for CASC4 Gene

  • GC15P042369
  • GC15P044580
  • GC15P021404

Summaries for CASC4 Gene

Entrez Gene Summary for CASC4 Gene

  • The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for CASC4 Gene

CASC4 (Cancer Susceptibility 4) is a Protein Coding gene. An important paralog of this gene is GOLM1.

Additional gene information for CASC4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASC4 Gene

Genomics for CASC4 Gene

GeneHancer (GH) Regulatory Elements for CASC4 Gene

Promoters and enhancers for CASC4 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
GH15J044286 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.2 177 3.7 HDGF PKNOX1 SMAD1 NEUROD1 SIN3A FEZF1 DMAP1 IRF4 YY1 ZNF207 CASC4 GC15M044288 CTDSPL2 LCMT2 ENSG00000259563 ZSCAN29 WDR76 SPG11 TUBGCP4 ENSG00000249839
GH15J044319 Enhancer 0.7 ENCODE 11.9 +31.0 30982 0.2 HDGF CTCF RAD21 IRF4 EED ZNF143 ATF7 BCLAF1 IKZF2 RUNX3 CASC4 GC15M044288 GAPDHP43 GC15P044263
GH15J044440 Enhancer 0.6 ENCODE 10.9 +152.8 152830 1.4 SMARCE1 DPF2 ZNF316 HDAC2 KLF16 EGR1 SMARCA4 IKZF1 NBN HMBOX1 CASC4 ENSG00000259659 GC15P044434 HNRNPMP1 CTDSPL2
GH15J044705 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.7 +422.9 422852 11.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 B2M PATL2 SPG11 CTDSPL2 TRIM69 ENSG00000259563 SPATA5L1 WDR76 CASC4 GC15M044672
GH15J044295 Enhancer 1.1 Ensembl ENCODE 0.4 +8.2 8202 3 PKNOX1 ATF1 ARNT TCF12 ZNF121 E2F8 FOS ATF7 NCOA1 ZNF592 ENSG00000259659 CASC4 GC15M044288 GC15P044263 GAPDHP43
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASC4 gene promoter:
  • RP58
  • Msx-1
  • Chx10
  • AP-4
  • En-1
  • E2F
  • E2F-1
  • HNF-3beta
  • Gfi-1
  • NF-1

Genomic Locations for CASC4 Gene

Genomic Locations for CASC4 Gene
127,146 bases
Plus strand
127,051 bases
Plus strand

Genomic View for CASC4 Gene

Genes around CASC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASC4 Gene

Proteins for CASC4 Gene

  • Protein details for CASC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein CASC4
    Protein Accession:
    Secondary Accessions:
    • B4DPZ6
    • G5E934
    • Q6UY45
    • Q96EM1

    Protein attributes for CASC4 Gene

    433 amino acids
    Molecular mass:
    48864 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CASC4 Gene


neXtProt entry for CASC4 Gene

Post-translational modifications for CASC4 Gene

  • Glycosylation at posLast=366366, Thr345, posLast=233233, posLast=195195, posLast=150150, and posLast=115115
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CASC4 Gene

Domains & Families for CASC4 Gene

Gene Families for CASC4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CASC4 Gene


Suggested Antigen Peptide Sequences for CASC4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GOLM1/CASC4 family.
  • Belongs to the GOLM1/CASC4 family.
genes like me logo Genes that share domains with CASC4: view

Function for CASC4 Gene

Phenotypes From GWAS Catalog for CASC4 Gene

genes like me logo Genes that share phenotypes with CASC4: view

Animal Models for CASC4 Gene

MGI Knock Outs for CASC4:
  • Casc4 Casc4<tm2b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for CASC4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASC4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASC4 Gene

Localization for CASC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASC4 Gene

Membrane; Single-pass type II membrane protein.

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 CASC4 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CASC4: view

Pathways & Interactions for CASC4 Gene

SuperPathways for CASC4 Gene

No Data Available

Interacting Proteins for CASC4 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q6P4E1-CASC4_HUMAN ENSP00000299957 for CASC4 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CASC4 Gene


No data available for Pathways by source and SIGNOR curated interactions for CASC4 Gene

Drugs & Compounds for CASC4 Gene

No Compound Related Data Available

Transcripts for CASC4 Gene

mRNA/cDNA for CASC4 Gene

Unigene Clusters for CASC4 Gene

Cancer susceptibility candidate 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASC4

Alternative Splicing Database (ASD) splice patterns (SP) for CASC4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP2: - - -
SP3: -

Relevant External Links for CASC4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CASC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASC4 Gene

Protein differential expression in normal tissues from HIPED for CASC4 Gene

This gene is overexpressed in Nasal epithelium (56.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASC4 Gene

Protein tissue co-expression partners for CASC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASC4 Gene:


SOURCE GeneReport for Unigene cluster for CASC4 Gene:


Evidence on tissue expression from TISSUES for CASC4 Gene

  • Kidney(4.3)
  • Liver(4.3)
  • Blood(4.1)
  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with CASC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASC4 Gene

Orthologs for CASC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASC4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CASC4 34 33
  • 98.25 (n)
(Canis familiaris)
Mammalia CASC4 34 33
  • 92.35 (n)
(Mus musculus)
Mammalia Casc4 16 34 33
  • 90.65 (n)
(Rattus norvegicus)
Mammalia Casc4 33
  • 89.96 (n)
(Bos Taurus)
Mammalia CASC4 34 33
  • 89.11 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
-- 34
  • 46 (a)
(Monodelphis domestica)
Mammalia CASC4 34
  • 82 (a)
(Gallus gallus)
Aves CASC4 34 33
  • 71.46 (n)
(Anolis carolinensis)
Reptilia CASC4 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia casc4 33
  • 62.78 (n)
Str.9557 33
(Danio rerio)
Actinopterygii casc4 34 33
  • 61.84 (n)
Species where no ortholog for CASC4 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for CASC4 Gene

Gene Tree for CASC4 (if available)
Gene Tree for CASC4 (if available)
Evolutionary constrained regions (ECRs) for CASC4: view image

Paralogs for CASC4 Gene

Paralogs for CASC4 Gene

(23) SIMAP similar genes for CASC4 Gene using alignment to 6 proteins:

  • H0YM51_HUMAN
  • H0YN36_HUMAN
  • Q8N7K6_HUMAN Pseudogenes for CASC4 Gene

genes like me logo Genes that share paralogs with CASC4: view

Variants for CASC4 Gene

Sequence variations from dbSNP and Humsavar for CASC4 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000020722 -- 44,368,721(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000042567 -- 44,415,678(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000073560 -- 44,415,770(+) G/A downstream_transcript_variant
rs1000116601 -- 44,325,478(+) C/T intron_variant
rs1000158323 -- 44,385,089(+) A/C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CASC4 Gene

Variant ID Type Subtype PubMed ID
dgv2587n100 CNV gain 25217958
dgv4510n54 CNV loss 21841781
esv3636306 CNV loss 21293372
esv3636307 CNV loss 21293372
nsv1122957 CNV deletion 24896259
nsv1134442 CNV deletion 24896259
nsv1139630 CNV duplication 24896259
nsv977705 CNV duplication 23825009

Variation tolerance for CASC4 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASC4 Gene

Human Gene Mutation Database (HGMD)
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 CASC4 Gene

Disorders for CASC4 Gene

Additional Disease Information for CASC4

No disorders were found for CASC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASC4 Gene

Publications for CASC4 Gene

  1. SRSF1-Regulated Alternative Splicing in Breast Cancer. (PMID: 26431027) Anczuków O … Krainer AR (Molecular cell 2015) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  4. Identification of differentially expressed genes associated with HER-2/neu overexpression in human breast cancer cells. (PMID: 10497265) Oh JJ … Slamon DJ (Nucleic acids research 1999) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CASC4 Gene

Sources for CASC4 Gene

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