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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. Diseases associated with CASKIN2 include Pontocerebellar Hypoplasia, Type 4 and Pontoneocerebellar Hypoplasia. 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

GeneHancer (GH) Regulatory Elements for CASKIN2 Gene

Promoters and enhancers for CASKIN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J075507 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +2.0 2035 11.8 CLOCK MLX ZFP64 DMAP1 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 TSEN54 CASKIN2 ENSG00000266980 NUP85 ENSG00000267342 NT5C LLGL2 NAT9 EXOC7 UNK
GH17J076258 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -752.4 -752392 19.6 CLOCK DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A UBALD2 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000266980 ENSG00000267546 METTL23 MFSD11 EXOC7
GH17J075720 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -207.3 -207277 4.7 HDGF PKNOX1 NEUROD1 SIN3A ZNF2 ZBTB7B ZNF48 ELK1 FOS MXD4 ITGB4 GALK1 ENSG00000266980 NUP85 CDR2L SLC25A19 CASKIN2 TMEM94 RECQL5 LLGL2
GH17J075428 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +85.8 85834 3.1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ETS1 FOS SP5 NFYC MIER2 TSEN54 CASKIN2 TMEM94 GRB2 NUP85 MIF4GD MYO15B LLGL2 MRPS7 ENSG00000202332
GH17J074544 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 12.1 +970.0 970042 2.7 ZSCAN4 MAX STAT5A ZKSCAN1 MTA3 POLR2A NFATC1 ZNF207 HES1 RFX1 CD300C CASKIN2 HID1-AS1 SUMO2 SLC9A3R1 CD300LB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASKIN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASKIN2 gene promoter:

Genomic Locations for CASKIN2 Gene

Genomic Locations for CASKIN2 Gene
chr17:75,500,260-75,515,583
(GRCh38/hg38)
Size:
15,324 bases
Orientation:
Minus strand
chr17:73,496,342-73,511,664
(GRCh37/hg19)

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 --
GO:0005515 protein binding IEA --
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASKIN2

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASKIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

mRNA/cDNA for CASKIN2 Gene

Unigene Clusters for CASKIN2 Gene

CASK interacting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASKIN2

Clone 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 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, 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

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 34 33
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASKIN2 34 33
  • 88.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CASKIN2 34 33
  • 87.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Caskin2 16 34 33
  • 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 34 33
  • 66.52 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for CASKIN2: view image

Paralogs for CASKIN2 Gene

Paralogs for CASKIN2 Gene

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

  • CSKI2_HUMAN
  • J3QKS3_HUMAN
  • J3QRN1_HUMAN
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 Variation AA Info Type
rs113994151 pathogenic, Pontocerebellar hypoplasia type 4 75,517,064(-) T/C upstream_transcript_variant
rs148146916 benign, uncertain-significance, not specified, Pontoneocerebellar hypoplasia 75,517,200(-) C/G/T upstream_transcript_variant
rs200318170 uncertain-significance, Pontoneocerebellar hypoplasia 75,517,081(-) C/G/T upstream_transcript_variant
rs201089582 uncertain-significance, not specified, Pontoneocerebellar hypoplasia 75,516,772(-) C/T upstream_transcript_variant
rs373044979 uncertain-significance, likely-benign, Pontoneocerebellar hypoplasia, not specified 75,517,084(-) G/A/C upstream_transcript_variant

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for CASKIN2 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CASKIN2

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

No data available for 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58

Products for CASKIN2 Gene

Sources for CASKIN2 Gene

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