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Aliases for CASKIN2 Gene

Aliases for CASKIN2 Gene

  • CASK Interacting Protein 2 2 3 5
  • CASK-Interacting Protein 2 4
  • KIAA1139 4
  • ANKS5B 3

External Ids for CASKIN2 Gene

Previous GeneCards Identifiers for CASKIN2 Gene

  • GC00U990821
  • GC17M076522
  • GC17M073960
  • GC17M074093
  • GC17M071007
  • GC17M073496
  • GC17M068919

Summaries for CASKIN2 Gene

Entrez Gene Summary for CASKIN2 Gene

  • This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneCards Summary for CASKIN2 Gene

CASKIN2 (CASK Interacting Protein 2) is a Protein Coding gene. An important paralog of this gene is ANKS1A.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASKIN2 Gene

Genomics for CASKIN2 Gene

Regulatory Elements for CASKIN2 Gene

Promoters for CASKIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CASKIN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASKIN2 Gene

Chromosome:
17
Start:
75,500,260 bp from pter
End:
75,515,583 bp from pter
Size:
15,324 bases
Orientation:
Minus strand

Genomic View for CASKIN2 Gene

Genes around CASKIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASKIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASKIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASKIN2 Gene

Proteins for CASKIN2 Gene

  • Protein details for CASKIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXE0-CSKI2_HUMAN
    Recommended name:
    Caskin-2
    Protein Accession:
    Q8WXE0
    Secondary Accessions:
    • B4DTT3
    • B7Z9H1
    • Q7LG69
    • Q9ULT1

    Protein attributes for CASKIN2 Gene

    Size:
    1202 amino acids
    Molecular mass:
    126783 Da
    Quaternary structure:
    • May not bind CASK.

    Three dimensional structures from OCA and Proteopedia for CASKIN2 Gene

    Alternative splice isoforms for CASKIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASKIN2 Gene

Proteomics data for CASKIN2 Gene at MOPED

Post-translational modifications for CASKIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASKIN2 Gene

Antibody Products

No data available for DME Specific Peptides for CASKIN2 Gene

Domains & Families for CASKIN2 Gene

Suggested Antigen Peptide Sequences for CASKIN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXE0

UniProtKB/Swiss-Prot:

CSKI2_HUMAN :
  • Contains 2 SAM (sterile alpha motif) domains.
  • Contains 6 ANK repeats.
Domain:
  • Contains 2 SAM (sterile alpha motif) domains.
  • Contains 1 SH3 domain.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with CASKIN2: view

Function for CASKIN2 Gene

Gene Ontology (GO) - Molecular Function for CASKIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CASKIN2: view
genes like me logo Genes that share phenotypes with CASKIN2: view

Animal Models for CASKIN2 Gene

MGI Knock Outs for CASKIN2:

Animal Model Products

CRISPR Products

miRNA for CASKIN2 Gene

miRTarBase miRNAs that target CASKIN2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASKIN2 Gene

Localization for CASKIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASKIN2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASKIN2 Gene COMPARTMENTS Subcellular localization image for CASKIN2 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for CASKIN2 Gene

Pathways & Interactions for CASKIN2 Gene

SuperPathways for CASKIN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CASKIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CASKIN2: view

No data available for Pathways by source and SIGNOR curated interactions for CASKIN2 Gene

Drugs & Compounds for CASKIN2 Gene

No Compound Related Data Available

Transcripts for CASKIN2 Gene

Unigene Clusters for CASKIN2 Gene

CASK interacting protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASKIN2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a ·
SP1:
SP2: -
SP3: -
SP4:
SP5: -
SP6: - - - - - - - - -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CASKIN2 Gene

GeneLoc Exon Structure for
CASKIN2
ECgene alternative splicing isoforms for
CASKIN2

Expression for CASKIN2 Gene

mRNA expression in normal human tissues for CASKIN2 Gene

Protein differential expression in normal tissues from HIPED for CASKIN2 Gene

This gene is overexpressed in Spinal cord (22.2) and Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASKIN2 Gene



SOURCE GeneReport for Unigene cluster for CASKIN2 Gene Hs.274408

genes like me logo Genes that share expression patterns with CASKIN2: view

Protein tissue co-expression partners for CASKIN2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CASKIN2 Gene

Orthologs for CASKIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASKIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASKIN2 36
  • 100 (a)
OneToOne
CASKIN2 35
  • 99.46 (n)
  • 99.72 (a)
cow
(Bos Taurus)
Mammalia CASKIN2 36
  • 92 (a)
OneToOne
CASKIN2 35
  • 87.81 (n)
  • 91.86 (a)
dog
(Canis familiaris)
Mammalia CASKIN2 35
  • 88.26 (n)
  • 92.4 (a)
CASKIN2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Caskin2 36
  • 89 (a)
OneToOne
Caskin2 16
Caskin2 35
  • 85.76 (n)
  • 90.58 (a)
oppossum
(Monodelphis domestica)
Mammalia CASKIN2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Caskin2 35
  • 84.86 (n)
  • 88.98 (a)
chicken
(Gallus gallus)
Aves CASKIN2 35
  • 66.52 (n)
  • 65.78 (a)
CASKIN2 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASKIN2 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2297 35
tropical clawed frog
(Silurana tropicalis)
Amphibia caskin2 35
  • 61.63 (n)
  • 63.89 (a)
zebrafish
(Danio rerio)
Actinopterygii CASKIN2 (1 of 4) 36
  • 29 (a)
OneToMany
CASKIN2 (2 of 4) 36
  • 48 (a)
OneToMany
CASKIN2 (3 of 4) 36
  • 38 (a)
OneToMany
CASKIN2 (4 of 4) 36
  • 74 (a)
OneToMany
Dr.21460 35
LOC564253 35
  • 58.34 (n)
  • 59.23 (a)
worm
(Caenorhabditis elegans)
Secernentea C46H3.2 36
  • 22 (a)
ManyToMany
Species with no ortholog for CASKIN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)

Evolution for CASKIN2 Gene

ENSEMBL:
Gene Tree for CASKIN2 (if available)
TreeFam:
Gene Tree for CASKIN2 (if available)

Paralogs for CASKIN2 Gene

Paralogs for CASKIN2 Gene

(13) SIMAP similar genes for CASKIN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASKIN2: view

Variants for CASKIN2 Gene

Sequence variations from dbSNP and Humsavar for CASKIN2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs7503373 - 75,502,402(+) GGCTC(C/T)CATCT reference, missense
rs3935439 -- 75,508,830(+) CTCAG(C/T)GTCCT intron-variant
rs4789204 -- 75,509,384(+) GAATA(C/G)CCCAG intron-variant
rs4789205 -- 75,513,460(+) atgaa(C/T)gtact intron-variant
rs7502835 -- 75,502,542(+) GTCAC(A/G)CTAGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CASKIN2 Gene

Variant ID Type Subtype PubMed ID
nsv516133 CNV Loss 19592680
nsv908762 CNV Loss 21882294
nsv833542 CNV Loss 17160897
nsv908763 CNV Gain 21882294
dgv3256n71 CNV Loss 21882294
nsv470603 CNV Loss 18288195
dgv3257n71 CNV Loss 21882294
dgv3258n71 CNV Loss 21882294
nsv908775 CNV Loss 21882294

Variation tolerance for CASKIN2 Gene

Residual Variation Intolerance Score: 72.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASKIN2 Gene

HapMap Linkage Disequilibrium report
CASKIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASKIN2 Gene

Disorders for CASKIN2 Gene

Relevant External Links for CASKIN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASKIN2

No disorders were found for CASKIN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASKIN2 Gene

Publications for CASKIN2 Gene

  1. CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with Caskin 1, a novel CASK-binding protein. (PMID: 12040031) Tabuchi K. … Suedhof T.C. (J. Neurosci. 2002) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human sterile alpha motif domain polymerizome. (PMID: 21805519) Knight M.J. … Bowie J.U. (Protein Sci. 2011) 3
  4. Proteins recruited by SH3 domains of Ruk/CIN85 adaptor identified by LC-MS/MS. (PMID: 19531213) Havrylov S. … Redowicz M.J. (Proteome Sci 2009) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for CASKIN2 Gene

Sources for CASKIN2 Gene

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