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Aliases for CASKIN2 Gene

Aliases for CASKIN2 Gene

  • CASK Interacting Protein 2 2 3 5
  • CASK-Interacting Protein 2 4
  • Caskin-2 3
  • 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 CASKIN1.

Additional gene information for CASKIN2 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 CASKIN2 Gene

Genomics for CASKIN2 Gene

Regulatory Elements for CASKIN2 Gene

Enhancers for CASKIN2 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
GH17H076258 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -752.4 -752393 19 DMAP1 YY1 ZNF143 SP3 ZC3H11A NFYC MEF2D ZNF610 ZNF585B GLIS1 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000266980 ENSG00000267546 EXOC7 RNF157 MFSD11 PRPSAP1
GH17H074568 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +946.0 946027 1 TBP ZNF473 ZSCAN4 SIN3A ZNF195 YBX1 GLI4 EGR1 FOS EGR2 NAT9 NUP85 CD300E NT5C CD300C CD300LB GGA3 ENSG00000266765 LINC02092 ENSG00000265935
GH17H075428 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +85.8 85834 3 ELF3 TBP FOXA2 ARID4B SIN3A DMAP1 RAD21 THRB ZSCAN9 RARA TSEN54 CASKIN2 TMEM94 GRB2 NUP85 MIF4GD MYO15B LLGL2 MRPS7 ENSG00000202332
GH17H075334 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +173.8 173765 14 HDGF PKNOX1 ATF1 ARNT SIN3A FEZF1 TCF12 ZNF121 ZNF766 GATA2 GRB2 LLGL2 MRPS7 NUP85 TMEM94 CASKIN2 TSEN54 MIF4GD MYO15B SMIM5
GH17H075720 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 -207.3 -207278 4 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B ELK1 FOS MXD4 MIER2 ZNF592 ENSG00000266980 ITGB4 GALK1 NUP85 CDR2L SLC25A19 CASKIN2 ENSG00000267342 TMEM94 RECQL5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASKIN2 on UCSC Golden Path with GeneCards custom track

Promoters for CASKIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098397 -417 2401 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9

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

Post-translational modifications for CASKIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASKIN2 Gene

No data available for DME Specific Peptides for CASKIN2 Gene

Domains & Families for CASKIN2 Gene

Gene Families for CASKIN2 Gene

Suggested Antigen Peptide Sequences for CASKIN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CASKIN2 Gene

Function for CASKIN2 Gene

Phenotypes From GWAS Catalog 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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CASKIN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 CASKIN2 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CASKIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS 12040031
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with CASKIN2: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CASKIN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CASKIN2 Gene



Protein tissue co-expression partners for CASKIN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASKIN2 Gene:

CASKIN2

SOURCE GeneReport for Unigene cluster for CASKIN2 Gene:

Hs.274408

Evidence on tissue expression from TISSUES for CASKIN2 Gene

  • Nervous system(4.5)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CASKIN2: 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 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 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia CASKIN2 33 34
  • 88.26 (n)
cow
(Bos Taurus)
Mammalia CASKIN2 33 34
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Caskin2 33 16 34
  • 85.76 (n)
rat
(Rattus norvegicus)
Mammalia Caskin2 33
  • 84.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CASKIN2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASKIN2 33 34
  • 66.52 (n)
lizard
(Anolis carolinensis)
Reptilia CASKIN2 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia caskin2 33
  • 61.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2297 33
zebrafish
(Danio rerio)
Actinopterygii CASKIN2 (4 of 4) 34
  • 74 (a)
OneToMany
LOC564253 33
  • 58.34 (n)
CASKIN2 (2 of 4) 34
  • 48 (a)
OneToMany
CASKIN2 (3 of 4) 34
  • 38 (a)
OneToMany
CASKIN2 (1 of 4) 34
  • 29 (a)
OneToMany
Dr.21460 33
worm
(Caenorhabditis elegans)
Secernentea C46H3.2 34
  • 22 (a)
ManyToMany
Species where no ortholog for CASKIN2 was found in the sources mined by GeneCards:
  • 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
rs113994151 Pathogenic 75,517,064(+) TGAAG(C/T)CTCCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587784478 Pathogenic 75,516,561(+) GCGGG(A/C)TGGAG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs368933303 Likely benign 75,516,969(+) GTCTC(C/G)GGAAT intron-variant, upstream-variant-2KB
rs148146916 Uncertain significance 75,517,200(+) AGGGC(C/G)GGCAG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs200318170 Uncertain significance 75,517,081(+) AGCGG(C/G/T)GGGCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv470603 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv833542 CNV loss 17160897
nsv952368 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 … Sudhof TC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2002) 2 3 4 60
  2. 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
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. A lack of peptide binding and decreased thermostability suggests that the CASKIN2 scaffolding protein SH3 domain may be vestigial. (PMID: 27619958) Kwan JJ … Donaldson LW (BMC structural biology 2016) 3 60

Products for CASKIN2 Gene

Sources for CASKIN2 Gene

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