CABLES2 Cdk5 and Abl enzyme substrate 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CABLES2provided by HGNC
Official Full Name: Cdk5 and Abl enzyme substrate 2provided by HGNC
Primary source: HGNC:HGNC:16143
See related: Ensembl:ENSG00000149679 MIM:618772; AllianceGenome:HGNC:16143
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ik3-2; C20orf150; dJ908M14.2
Summary: Predicted to be involved in cell division and regulation of cell cycle. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 25.7), heart (RPKM 3.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (62388634..62407285, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64185135..64203829, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (60963690..60982341, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome.
We thus identified ik3-2 as a proapoptotic factor involved in both p53-mediated and p53-independent apoptotic pathways.
Title: ik3-2, a relative to ik3-1/Cables, is involved in both p53-mediated and p53-independent apoptotic pathways.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12076 (e-PCR)
- UniSTS:79719

RH64856 (e-PCR)
- UniSTS:4505

D20S141E (e-PCR)
- UniSTS:473051

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: CDK5 and ABL1 enzyme substrate 2

Names: interactor with CDK3 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_031215.3 → NP_112492.2 CDK5 and ABL1 enzyme substrate 2

See identical proteins and their annotated locations for NP_112492.2

Status: VALIDATED

Source sequence(s)

AL121832

Consensus CDS

CCDS33503.1

UniProtKB/Swiss-Prot

Q5JWL0, Q9BTV7, Q9BYK0

Related

ENSP00000279101.5, ENST00000279101.10

Conserved Domains (2) summary

cd00043
Location:362 → 418

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

cl00266
Location:410 → 454

HGTP_anticodon; HGTP anticodon binding domain, as found at the C-terminus of histidyl, glycyl, threonyl and prolyl tRNA synthetases, which are classified as a group of class II aminoacyl-tRNA synthetases (aaRS). In aaRSs, the anticodon binding domain is responsible for ...