CDK2AP2 cyclin dependent kinase 2 associated protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDK2AP2provided by HGNC
Official Full Name: cyclin dependent kinase 2 associated protein 2provided by HGNC
Primary source: HGNC:HGNC:30833
See related: Ensembl:ENSG00000167797 MIM:620061; AllianceGenome:HGNC:30833
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p14; DOC1R; DOC-1R
Summary: This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
Expression: Ubiquitous expression in thyroid (RPKM 21.4), adrenal (RPKM 15.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67506497..67508162, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67501174..67502839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67273968..67275633, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Novel circular RNA hsa_circ_0036683 suppresses proliferation and migration by mediating the miR-4664-3p/CDK2AP2 axis in non-small cell lung cancer.
Title: Novel circular RNA hsa_circ_0036683 suppresses proliferation and migration by mediating the miR-4664-3p/CDK2AP2 axis in non-small cell lung cancer.
Our findings suggest that alteration of p16, p14, p27, p21, and p53 status may contribute to carcinogenesis and the clinical behavior of HPV-negative adenocarcinoma of the uterine cervix
Title: Dysregulation of CDK inhibitors and p53 in HPV-negative endocervical adenocarcinoma.
antitumor effects of DOC-1R may be mediated by negatively regulating G1 phase progression and G1/S transition through inhibiting CDK2 expression and activation
Title: Overexpression of DOC-1R inhibits cell cycle G1/S transition by repressing CDK2 expression and activation.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of stem cell division	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of NuRD complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cyclin-dependent kinase 2-associated protein 2

Names: CDK2-associated protein 2; DOC-1-related protein; tumor suppressor deleted in oral cancer related 1

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_001271849.2 → NP_001258778.1 cyclin-dependent kinase 2-associated protein 2 isoform 2

See identical proteins and their annotated locations for NP_001258778.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK310197, BQ016039, CB988039

Conserved Domains (1) summary

pfam09806
Location:18 → 70

CDK2AP; Cyclin-dependent kinase 2-associated protein
NM_005851.5 → NP_005842.1 cyclin-dependent kinase 2-associated protein 2 isoform 1

See identical proteins and their annotated locations for NP_005842.1

Status: REVIEWED

Source sequence(s)

AP001184

Consensus CDS

CCDS8169.1

UniProtKB/Swiss-Prot

O75956

UniProtKB/TrEMBL

E9PKR4, Q6IAV4

Related

ENSP00000301488.4, ENST00000301488.8

Conserved Domains (2) summary

TIGR00601
Location:5 → 106

rad23; UV excision repair protein Rad23

pfam09806
Location:73 → 125

CDK2AP; Cyclin-dependent kinase 2-associated protein

RNA

NR_073484.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF.

Source sequence(s)

BI763791, BM559572, BQ016039, CB988039