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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.

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

Regulatory Elements for CASC4 Gene

Enhancers for CASC4 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
GH15G044319 0.7 ENCODE 11.9 +31.0 30982 0.2 HDGF CTCF WRNIP1 IRF3 TRIM22 RAD21 EED TARDBP IKZF1 NBN CASC4 GC15M044288 GAPDHP43
GH15G044440 0.7 ENCODE 10.9 +152.8 152830 1.4 ZNF316 GATA2 EGR1 ZSCAN29 SMARCE1 RNF2 DPF2 SMARCB1 ARID1B HDAC2 CASC4 ENSG00000259659 GC15P044434 HNRNPMP1
GH15G044705 1.8 FANTOM5 ENCODE dbSUPER 1.7 +422.9 422852 11.6 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 TRIM69 CTDSPL2 EIF3J-AS1 HNRNPMP1 B2M BLOC1S6 MFAP1 PATL2 SPG11 CASC4
GH15G044286 1.1 ENCODE 0.7 +0.2 178 3.7 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 KLF13 CTDSPL2 ENSG00000259563 TUBGCP4 ENSG00000249839 ELL3 MFAP1 WDR76 LCMT2 ENSG00000259659 ADAL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASC4 on UCSC Golden Path with GeneCards custom track

Promoters for CASC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075929 284 3001 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 KLF13

Genomic Location for CASC4 Gene

Chromosome:
15
Start:
44,288,616 bp from pter
End:
44,415,761 bp from pter
Size:
127,146 bases
Orientation:
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:
    Q6P4E1-CASC4_HUMAN
    Recommended name:
    Protein CASC4
    Protein Accession:
    Q6P4E1
    Secondary Accessions:
    • B4DPZ6
    • G5E934
    • Q6UY45
    • Q96EM1

    Protein attributes for CASC4 Gene

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

    Alternative splice isoforms for CASC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASC4 Gene

Post-translational modifications for CASC4 Gene

  • Glycosylation at Asn115, Asn150, posLast=195195, Ser233, posLast=345345, and Ser366
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CASC4 Gene

Domains & Families for CASC4 Gene

Protein Domains for CASC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6P4E1

UniProtKB/Swiss-Prot:

CASC4_HUMAN :
  • Belongs to the GOLM1/CASC4 family.
Family:
  • Belongs to the GOLM1/CASC4 family.
genes like me logo Genes that share domains with CASC4: view

No data available for Gene Families for CASC4 Gene

Function for CASC4 Gene

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

Animal Models for CASC4 Gene

MGI Knock Outs for CASC4:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASC4

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000299957%0d%0a9606.ENSP00000426120%0d%0a
Selected Interacting proteins: Q6P4E1-CASC4_HUMAN ENSP00000299957 for CASC4 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CASC4 Gene

None

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

Transcripts for CASC4 Gene

Unigene Clusters for CASC4 Gene

Cancer susceptibility candidate 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
SP1:
SP2: - - -
SP3: -
SP4:

Relevant External Links for CASC4 Gene

GeneLoc Exon Structure for
CASC4
ECgene alternative splicing isoforms for
CASC4

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:

CASC4

SOURCE GeneReport for Unigene cluster for CASC4 Gene:

Hs.512867

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CASC4 35 34
  • 98.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASC4 34 35
  • 92.35 (n)
mouse
(Mus musculus)
Mammalia Casc4 35 16 34
  • 90.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casc4 34
  • 89.96 (n)
cow
(Bos Taurus)
Mammalia CASC4 34 35
  • 89.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CASC4 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASC4 34 35
  • 71.46 (n)
lizard
(Anolis carolinensis)
Reptilia CASC4 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casc4 34
  • 62.78 (n)
Str.9557 34
zebrafish
(Danio rerio)
Actinopterygii casc4 34 35
  • 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

ENSEMBL:
Gene Tree for CASC4 (if available)
TreeFam:
Gene Tree for CASC4 (if available)

Paralogs for CASC4 Gene

Paralogs for CASC4 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000020722 -- 44,368,721(+) CACAT(A/G)TACAC intron-variant
rs1000042567 -- 44,415,678(+) GCCCT(C/G)AATTA nc-transcript-variant, utr-variant-3-prime
rs1000073560 -- 44,415,770(+) GTTTT(A/G)CTGAT downstream-variant-500B
rs1000116601 -- 44,325,478(+) TCATA(C/T)TAAGC intron-variant
rs1000158323 -- 44,385,089(+) GATGT(A/C)TATAT 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)

Relevant External Links for CASC4 Gene

Human Gene Mutation Database (HGMD)
CASC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASC4 Gene

Disorders for CASC4 Gene

Relevant External Links for CASC4

Genetic Association Database (GAD)
CASC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) AnczukA^w O. … Krainer A.R. (Mol. Cell 2015) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. Identification of differentially expressed genes associated with HER- 2/neu overexpression in human breast cancer cells. (PMID: 10497265) Oh J.J. … Slamon D.J. (Nucleic Acids Res. 1999) 2 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for CASC4 Gene

Sources for CASC4 Gene

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