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 ... See more...

Aliases for CASKIN2 Gene

Aliases for CASKIN2 Gene

  • CASK Interacting Protein 2 2 3 5
  • Caskin-2 3 4
  • KIAA1139 2 4
  • ANKS5B 2 3
  • CASK-Interacting Protein 2 4
  • FLJ21609 2
  • CASKIN2 5

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 CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASKIN2 Gene

Genomics for CASKIN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CASKIN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASKIN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASKIN2

Top Transcription factor binding sites by QIAGEN in the CASKIN2 gene promoter:
  • C/EBPalpha
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA5
  • Ik-1
  • NF-1/L
  • Pax-6

Genomic Locations for CASKIN2 Gene

Latest Assembly
chr17:75,500,261-75,515,537
(GRCh38/hg38)
Size:
15,277 bases
Orientation:
Minus strand

Previous Assembly
chr17:73,496,342-73,511,618
(GRCh37/hg19 by Entrez Gene)
Size:
15,277 bases
Orientation:
Minus strand

chr17:73,496,342-73,511,664
(GRCh37/hg19 by Ensembl)
Size:
15,323 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

Antibodies for research

No data available for DME Specific Peptides for CASKIN2 Gene

Domains & Families for CASKIN2 Gene

Gene Families for CASKIN2 Gene

Protein Domains for CASKIN2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Sterile alpha motif SAM
  • SH3 domain signature
  • Variant SH3
ProtoNet:

Suggested Antigen Peptide Sequences for CASKIN2 Gene

GenScript: Design optimal peptide antigens:
  • Caskin-2 (CSKI2_HUMAN)
genes like me logo Genes that share domains with CASKIN2: view

No data available for Graphical View of Domain Structure and 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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 3
cytosol 3
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
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 21873635
genes like me logo Genes that share ontologies with CASKIN2: view

Pathways & Interactions for CASKIN2 Gene

PathCards logo

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

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

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, MaxQB, and MOPED for CASKIN2 Gene



Protein tissue co-expression partners for CASKIN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CASKIN2

SOURCE GeneReport for Unigene cluster for CASKIN2 Gene:

Hs.274408

Evidence on tissue expression from TISSUES for CASKIN2 Gene

  • Nervous system(4.6)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CASKIN2: view

Primer products for research

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 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CASKIN2 30 31
  • 88.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CASKIN2 30 31
  • 87.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Caskin2 30 17 31
  • 85.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Caskin2 30
  • 84.86 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia CASKIN2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CASKIN2 30 31
  • 66.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CASKIN2 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia caskin2 30
  • 61.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2297 30
Zebrafish
(Danio rerio)
Actinopterygii CASKIN2 (4 of 4) 31
  • 74 (a)
OneToMany
LOC564253 30
  • 58.34 (n)
CASKIN2 (2 of 4) 31
  • 48 (a)
OneToMany
CASKIN2 (3 of 4) 31
  • 38 (a)
OneToMany
CASKIN2 (1 of 4) 31
  • 29 (a)
OneToMany
Dr.21460 30
Worm
(Caenorhabditis elegans)
Secernentea C46H3.2 31
  • 22 (a)
ManyToMany
Species where no ortholog for CASKIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASKIN2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs112890467 Benign: not provided 75,504,207(-) G/T
NM_020753.5(CASKIN2):c.1467+8C>A
INTRON
rs7503373 - p.Glu891Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CASKIN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CASKIN2 Gene

Additional Disease Information for 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
  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
  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
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for CASKIN2 Gene

Sources for CASKIN2 Gene