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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.

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

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
GH17F075776 2.2 ENCODE 12 -262.9 -262944 4.9 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ENSG00000266980 MFSD11 UNK NT5C METTL23 ENSG00000264829 HMGN2P43 ENSG00000267342 MRPL38 H3F3B
GH17F075425 1.6 FANTOM5 Ensembl ENCODE 12.7 +87.0 86985 5.4 HDGF MLX ARID4B SIN3A YBX1 DMAP1 YY1 ZNF143 ZNF207 FOS UNK NUP85 TRIM65 NT5C TSEN54 CASKIN2 KCTD2 NAT9 GRB2 MIF4GD
GH17F075010 1.5 FANTOM5 ENCODE 11.9 +503.4 503381 3.7 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 UNK HID1 ENSG00000267801 ENSG00000266980 ENSG00000264829 NUP85 KCTD2 CDR2L NT5C HID1-AS1
GH17F076207 1.4 Ensembl ENCODE 11.9 -692.3 -692290 1.6 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RNF157 ENSG00000267801 UNK HMGN2P43 ENSG00000264829 ENSG00000266980 CASKIN2 MFSD11 FOXJ1 EXOC7
GH17F075546 1.3 Ensembl ENCODE 11.8 -33.7 -33728 4.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 ZNF143 ZNF207 LLGL2 TSEN54 RN7SL573P MYO15B CASKIN2 MIR6785 TMEM94 ENSG00000266980 NUP85 ENSG00000267342
- 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
ENSR00001809946 1683 201 ADNP ZBTB33 NR2F6

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

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

miRNA for CASKIN2 Gene

miRTarBase miRNAs that target CASKIN2

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for CASKIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 12040031
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:0007165 signal transduction IBA --
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

Transcripts for CASKIN2 Gene

Unigene Clusters for CASKIN2 Gene

CASK interacting protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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
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 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 34 35
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia CASKIN2 34 35
  • 88.26 (n)
cow
(Bos Taurus)
Mammalia CASKIN2 34 35
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Caskin2 34 16 35
  • 85.76 (n)
rat
(Rattus norvegicus)
Mammalia Caskin2 34
  • 84.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CASKIN2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASKIN2 34 35
  • 66.52 (n)
lizard
(Anolis carolinensis)
Reptilia CASKIN2 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia caskin2 34
  • 61.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2297 34
zebrafish
(Danio rerio)
Actinopterygii CASKIN2 (4 of 4) 35
  • 74 (a)
OneToMany
LOC564253 34
  • 58.34 (n)
CASKIN2 (2 of 4) 35
  • 48 (a)
OneToMany
CASKIN2 (3 of 4) 35
  • 38 (a)
OneToMany
CASKIN2 (1 of 4) 35
  • 29 (a)
OneToMany
Dr.21460 34
worm
(Caenorhabditis elegans)
Secernentea C46H3.2 35
  • 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
rs201089582 Uncertain significance 75,516,772(+) CCGCT(C/T)GCGGT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs794726965 Uncertain significance 75,516,566(+) ATGGA(C/G)CCCGA nc-transcript-variant, upstream-variant-2KB, reference, missense

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. … Suedhof T.C. (J. Neurosci. 2002) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Res. 1999) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64

Products for CASKIN2 Gene

Sources for CASKIN2 Gene

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