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Aliases for CABLES2 Gene

Aliases for CABLES2 Gene

  • Cdk5 And Abl Enzyme Substrate 2 2 3 5
  • Interactor With CDK3 2 3 4
  • C20orf150 3 4
  • Ik3-2 3 4
  • Chromosome 20 Open Reading Frame 150 2
  • CDK5 And ABL1 Enzyme Substrate 2 3
  • DJ908M14.2 3

External Ids for CABLES2 Gene

Previous HGNC Symbols for CABLES2 Gene

  • C20orf150

Previous GeneCards Identifiers for CABLES2 Gene

  • GC20M061649
  • GC20U900156
  • GC20M060397
  • GC20M060963
  • GC20M057740

Summaries for CABLES2 Gene

GeneCards Summary for CABLES2 Gene

CABLES2 (Cdk5 And Abl Enzyme Substrate 2) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Gene Ontology (GO) annotations related to this gene include cyclin-dependent protein serine/threonine kinase regulator activity. An important paralog of this gene is CABLES1.

UniProtKB/Swiss-Prot for CABLES2 Gene

  • Unknown. Probably involved in G1-S cell cycle transition.

Additional gene information for CABLES2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CABLES2 Gene

Genomics for CABLES2 Gene

GeneHancer (GH) Regulatory Elements for CABLES2 Gene

Promoters and enhancers for CABLES2 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
GH20I062405 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 572.3 +0.3 330 3.1 CLOCK MLX ZFP64 DMAP1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC CABLES2 LOC105372709
GH20I062385 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.3 +20.0 19959 3.9 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 RPS21 ENSG00000273619 DIDO1 TAF4 CABLES2 ENSG00000226332 LAMA5 LSM14B GID8 OSBPL2
GH20I062425 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 22.4 -21.7 -21726 6.4 HDGF CLOCK FOXA2 NEUROD1 SIN3A ZBTB7B ZNF207 SP5 REST ZNF592 LOC105372710 RBBP8NL CABLES2 DIDO1 ARFGAP1 RPS21 YTHDF1 TAF4 LAMA5 MIR1-1
GH20I062409 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.4 -4.8 -4761 5.6 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ELK1 CABLES2 LOC105372710 RBBP8NL
GH20I062352 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.7 +45.2 45170 19.1 HDGF CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 LAMA5 LAMA5-AS1 ARFGAP1 YTHDF1 MTG2 CABLES2 OSBPL2 BHLHE23 MRGBP ADRM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CABLES2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CABLES2 gene promoter:

Genomic Locations for CABLES2 Gene

Genomic Locations for CABLES2 Gene
chr20:62,388,630-62,407,285
(GRCh38/hg38)
Size:
18,656 bases
Orientation:
Minus strand
chr20:60,963,686-60,982,341
(GRCh37/hg19)

Genomic View for CABLES2 Gene

Genes around CABLES2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABLES2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABLES2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABLES2 Gene

Proteins for CABLES2 Gene

  • Protein details for CABLES2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTV7-CABL2_HUMAN
    Recommended name:
    CDK5 and ABL1 enzyme substrate 2
    Protein Accession:
    Q9BTV7
    Secondary Accessions:
    • Q5JWL0
    • Q9BYK0

    Protein attributes for CABLES2 Gene

    Size:
    478 amino acids
    Molecular mass:
    52235 Da
    Quaternary structure:
    • Binds to CDK3, CDK5 and ABL1. The C-terminal cyclin-box-like region binds to CDK5 (By similarity).

neXtProt entry for CABLES2 Gene

Post-translational modifications for CABLES2 Gene

No Post-translational modifications

Other Protein References for CABLES2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CABLES2 Gene

Domains & Families for CABLES2 Gene

Gene Families for CABLES2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CABLES2 Gene

Suggested Antigen Peptide Sequences for CABLES2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BTV7

UniProtKB/Swiss-Prot:

CABL2_HUMAN :
  • Belongs to the cyclin family.
Family:
  • Belongs to the cyclin family.
genes like me logo Genes that share domains with CABLES2: view

Function for CABLES2 Gene

Molecular function for CABLES2 Gene

UniProtKB/Swiss-Prot Function:
Unknown. Probably involved in G1-S cell cycle transition.

Phenotypes From GWAS Catalog for CABLES2 Gene

Phenotypes for CABLES2 Gene

GenomeRNAi human phenotypes for CABLES2:
genes like me logo Genes that share phenotypes with CABLES2: view

Animal Model Products

CRISPR Products

miRNA for CABLES2 Gene

miRTarBase miRNAs that target CABLES2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CABLES2 Gene

Localization for CABLES2 Gene

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 CABLES2 gene
Compartment Confidence
plasma membrane 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nuclear bodies (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CABLES2 Gene

Pathways & Interactions for CABLES2 Gene

genes like me logo Genes that share pathways with CABLES2: view

Pathways by source for CABLES2 Gene

Gene Ontology (GO) - Biological Process for CABLES2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0051301 cell division IEA --
GO:0051726 regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with CABLES2: view

No data available for SIGNOR curated interactions for CABLES2 Gene

Drugs & Compounds for CABLES2 Gene

No Compound Related Data Available

Transcripts for CABLES2 Gene

mRNA/cDNA for CABLES2 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(107) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CABLES2 Gene

Cdk5 and Abl enzyme substrate 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CABLES2 Gene

No ASD Table

Relevant External Links for CABLES2 Gene

GeneLoc Exon Structure for
CABLES2
ECgene alternative splicing isoforms for
CABLES2

Expression for CABLES2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CABLES2 Gene

mRNA differential expression in normal tissues according to GTEx for CABLES2 Gene

This gene is overexpressed in Testis (x6.0).

Protein differential expression in normal tissues from HIPED for CABLES2 Gene

This gene is overexpressed in Fetal heart (24.9), CD8 Tcells (14.1), Heart (11.2), Fetal Brain (9.5), and NK cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CABLES2 Gene



Protein tissue co-expression partners for CABLES2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CABLES2 Gene:

CABLES2

SOURCE GeneReport for Unigene cluster for CABLES2 Gene:

Hs.301040

Evidence on tissue expression from TISSUES for CABLES2 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with CABLES2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CABLES2 Gene

Orthologs for CABLES2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABLES2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CABLES2 33 34
  • 99.54 (n)
rat
(Rattus norvegicus)
Mammalia Cables2 33
  • 86.18 (n)
dog
(Canis familiaris)
Mammalia CABLES2 33 34
  • 85.87 (n)
mouse
(Mus musculus)
Mammalia Cables2 33 16 34
  • 84.88 (n)
cow
(Bos Taurus)
Mammalia CABLES2 33 34
  • 84.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CABLES2 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CABLES2 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABLES2 33 34
  • 71.53 (n)
lizard
(Anolis carolinensis)
Reptilia CABLES2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cables2 33
  • 63.81 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100148748 33
  • 62.38 (n)
cables2a 34
  • 52 (a)
OneToMany
cables2b 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6191 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71F9B.6 34
  • 19 (a)
OneToMany
Species where no ortholog for CABLES2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 CABLES2 Gene

ENSEMBL:
Gene Tree for CABLES2 (if available)
TreeFam:
Gene Tree for CABLES2 (if available)

Paralogs for CABLES2 Gene

Paralogs for CABLES2 Gene

(2) SIMAP similar genes for CABLES2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CABLES2: view

Variants for CABLES2 Gene

Sequence variations from dbSNP and Humsavar for CABLES2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000247333 -- 62,397,238(-) G/A intron_variant
rs1000513001 -- 62,393,824(-) T/C intron_variant
rs1000839010 -- 62,397,060(-) C/A intron_variant
rs1000849116 -- 62,392,864(-) C/T intron_variant
rs1000887651 -- 62,389,308(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CABLES2 Gene

Variant ID Type Subtype PubMed ID
dgv4343n100 CNV gain 25217958
dgv518n27 CNV loss 19166990
dgv7650n54 CNV loss 21841781
dgv7651n54 CNV loss 21841781
esv2422398 CNV duplication 17116639
esv2722809 CNV deletion 23290073
esv2722810 CNV deletion 23290073
esv2722811 CNV deletion 23290073
esv3429029 CNV duplication 20981092
nsv1143991 CNV deletion 24896259
nsv459065 CNV gain 19166990
nsv459067 CNV loss 19166990
nsv470556 CNV loss 18288195
nsv470557 CNV gain 18288195
nsv518296 CNV loss 19592680
nsv520024 CNV loss 19592680
nsv586496 CNV gain 21841781
nsv586497 CNV loss 21841781
nsv586498 CNV loss 21841781
nsv586499 CNV loss 21841781
nsv586500 CNV gain 21841781
nsv828774 CNV loss 20364138
nsv828776 CNV gain 20364138
nsv834024 CNV gain 17160897
nsv953302 CNV deletion 24416366

Variation tolerance for CABLES2 Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CABLES2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABLES2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CABLES2 Gene

Disorders for CABLES2 Gene

Additional Disease Information for CABLES2

No disorders were found for CABLES2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CABLES2 Gene

Publications for CABLES2 Gene

  1. 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
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. ik3-2, a relative to ik3-1/cables, is associated with cdk3, cdk5, and c-abl. (PMID: 11955625) Sato H … Matsuoka M (Biochimica et biophysica acta 2002) 3 22 58
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CABLES2 Gene

Sources for CABLES2 Gene

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