CDK2AP2
gene geneOn this page
Also known as DOC-1Rp14
Summary
CDK2AP2 (cyclin dependent kinase 2 associated protein 2, HGNC:30833) is a protein-coding gene on chromosome 11q13.2, encoding Cyclin-dependent kinase 2-associated protein 2 (O75956). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin.
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.
Source: NCBI Gene 10263 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 19 total
- GTEx eGene: eQTL in 12 tissues, sQTL in 1 (q < 0.05)
- Constraint (gnomAD): pLI 0.98 (loss-of-function intolerant), LOEUF 0.41 (moderately constrained)
- MANE Select transcript:
NM_005851
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30833 |
| Approved symbol | CDK2AP2 |
| Name | cyclin dependent kinase 2 associated protein 2 |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DOC-1R, p14 |
| Ensembl gene | ENSG00000167797 |
| Ensembl biotype | protein_coding |
| OMIM | 620061 |
| Entrez | 10263 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron
MANE Select: ENST00000301488
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 3
ENST00000301488, ENST00000525402, ENST00000526447, ENST00000531178, ENST00000531506, ENST00000890089, ENST00000935009, ENST00000935010, ENST00000991162, ENST00001027021, ENST00001092095, ENST00001092096, ENST00001092097, ENST00001092098, ENST00001142485
RefSeq mRNA: 2 — MANE Select: NM_005851
NM_001271849, NM_005851
CCDS: CCDS8169
Canonical transcript exons
ENST00000301488 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001167405 | 67506497 | 67507012 |
| ENSE00001167412 | 67508001 | 67508162 |
| ENSE00003556699 | 67507365 | 67507497 |
| ENSE00003605861 | 67507592 | 67507689 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 98.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.1117 / max 394.6260, expressed in 1816 samples.
Highest expression (Bgee): mucosa of transverse colon, apex of heart, lobe of thyroid gland, lobe of liver, coronary artery.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CDK2AP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 12 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
13 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Skin Sun Exposed Lower leg | eqtl | 5.9e-15 | -0.54 | 11:67508194:A:C |
| Liver | eqtl | 1.2e-11 | -0.29 | 11:67580441:TGAGGCA:T |
| Esophagus Mucosa | eqtl | 8.3e-10 | -0.66 | 11:67508194:A:C |
| Skin Not Sun Exposed Suprapubic | eqtl | 1.7e-06 | -0.49 | 11:67508194:A:C |
| Colon Transverse | eqtl | 4.4e-04 | +0.12 | 11:67525763:G:A |
| Heart Atrial Appendage | sqtl | 5.3e-03 | +2.11 | 11:67748867:G:A |
| Brain Caudate basal ganglia | eqtl | 6.4e-03 | +0.79 | 11:68443784:G:A |
| Spleen | eqtl | 1.2e-02 | -0.46 | 11:68322940:C:T |
| Vagina | eqtl | 2.3e-02 | +0.96 | 11:67950759:A:G |
| Brain Cortex | eqtl | 2.6e-02 | +0.80 | 11:67713320:C:T |
| Pituitary | eqtl | 2.6e-02 | -0.78 | 11:68143209:C:T |
| Artery Tibial | eqtl | 3.0e-02 | +0.07 | 11:67949932:G:A |
| Minor Salivary Gland | eqtl | 4.1e-02 | -0.68 | 11:67629120:C:CG |
FANTOM5 promoters
9 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120947 | 25.4096 | 1803 |
| 120950 | 10.3253 | 1791 |
| 120946 | 5.9386 | 1676 |
| 120944 | 5.2430 | 1666 |
| 120945 | 3.6403 | 1527 |
| 120948 | 2.2660 | 1336 |
| 120942 | 1.1723 | 657 |
| 120949 | 0.7017 | 431 |
| 120943 | 0.4149 | 211 |
Top tissues by expression
showing 100 of 293 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.54 | gold quality |
| apex of heart | UBERON:0002098 | 98.02 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.90 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.68 | gold quality |
| right coronary artery | UBERON:0001625 | 97.63 | gold quality |
| granulocyte | CL:0000094 | 97.60 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.54 | gold quality |
| ascending aorta | UBERON:0001496 | 97.53 | gold quality |
| left coronary artery | UBERON:0001626 | 97.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.34 | gold quality |
| aorta | UBERON:0000947 | 97.29 | gold quality |
| popliteal artery | UBERON:0002250 | 97.20 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.20 | gold quality |
| endometrium epithelium | UBERON:0004811 | 97.19 | gold quality |
| tibial artery | UBERON:0007610 | 97.18 | gold quality |
| oocyte | CL:0000023 | 97.13 | gold quality |
| coronary artery | UBERON:0001621 | 97.09 | gold quality |
| body of pancreas | UBERON:0001150 | 97.05 | gold quality |
| tibial nerve | UBERON:0001323 | 96.99 | gold quality |
| lower esophagus | UBERON:0013473 | 96.87 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.87 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.84 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.74 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.62 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.61 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.46 | gold quality |
| thyroid gland | UBERON:0002046 | 96.31 | gold quality |
| body of stomach | UBERON:0001161 | 96.30 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.19 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.18 | gold quality |
| transverse colon | UBERON:0001157 | 96.16 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.04 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.89 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.78 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.75 | gold quality |
| left uterine tube | UBERON:0001303 | 95.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.53 | gold quality |
| esophagus | UBERON:0001043 | 95.34 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.34 | gold quality |
| heart | UBERON:0000948 | 95.31 | gold quality |
| spinal cord | UBERON:0002240 | 95.25 | gold quality |
| pituitary gland | UBERON:0000007 | 95.24 | gold quality |
| omental fat pad | UBERON:0010414 | 95.15 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.14 | gold quality |
| peritoneum | UBERON:0002358 | 95.10 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.03 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.02 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.97 | gold quality |
| right lung | UBERON:0002167 | 94.91 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.86 | gold quality |
| lymph node | UBERON:0000029 | 94.74 | gold quality |
| endocervix | UBERON:0000458 | 94.58 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 94.45 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.34 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.26 | gold quality |
| amygdala | UBERON:0001876 | 94.26 | gold quality |
| spleen | UBERON:0002106 | 94.25 | gold quality |
| sigmoid colon | UBERON:0001159 | 94.22 | gold quality |
| adrenal gland | UBERON:0002369 | 94.22 | gold quality |
| colon | UBERON:0001155 | 94.16 | gold quality |
| small intestine | UBERON:0002108 | 94.13 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.07 | gold quality |
| stomach | UBERON:0000945 | 93.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.88 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.87 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.86 | gold quality |
| large intestine | UBERON:0000059 | 93.83 | gold quality |
| putamen | UBERON:0001874 | 93.80 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.79 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.66 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.66 | gold quality |
| ectocervix | UBERON:0012249 | 93.64 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.61 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 93.46 | gold quality |
| intestine | UBERON:0000160 | 93.45 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.45 | gold quality |
| duodenum | UBERON:0002114 | 93.38 | gold quality |
| prostate gland | UBERON:0002367 | 93.23 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.07 | gold quality |
| body of uterus | UBERON:0009853 | 93.03 | gold quality |
| right ovary | UBERON:0002118 | 93.01 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.98 | gold quality |
| paraflocculus | UBERON:0005351 | 92.93 | gold quality |
| olfactory bulb | UBERON:0002264 | 92.90 | silver quality |
| bone marrow cell | CL:0002092 | 92.83 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.79 | gold quality |
| caecum | UBERON:0001153 | 92.77 | gold quality |
| liver | UBERON:0002107 | 92.44 | gold quality |
| leukocyte | CL:0000738 | 92.18 | gold quality |
| blood | UBERON:0000178 | 92.17 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.17 | gold quality |
| thymus | UBERON:0002370 | 92.07 | gold quality |
| monocyte | CL:0000576 | 92.04 | gold quality |
| mouth mucosa | UBERON:0003729 | 92.02 | gold quality |
| cerebellum | UBERON:0002037 | 92.01 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.99 | gold quality |
| pancreas | UBERON:0001264 | 91.89 | gold quality |
| left ovary | UBERON:0002119 | 91.80 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-6 | yes | 33.87 |
| E-MTAB-6701 | yes | 18.19 |
| E-HCAD-11 | yes | 18.03 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Epididymis | tissue | 80.8 | not detected |
| Thyroid gland | tissue | 66.6 | not detected |
| Heart muscle | tissue | 61.8 | medium |
| Lymph node | tissue | 60.6 | low |
| Pituitary gland | tissue | 59.0 | |
| Thymus | tissue | 51.9 | |
| Adrenal gland | tissue | 51.7 | medium |
| Locus coeruleus | tissue | 48.8 | |
| Tonsil | tissue | 45.2 | low |
| Spinal cord | tissue | 45.0 | |
| Salivary gland | tissue | 44.4 | not detected |
| Hippocampus | tissue | 44.0 | not detected |
| Appendix | tissue | 43.5 | medium |
| Seminal vesicle | tissue | 43.1 | not detected |
| Nucleus accumbens | tissue | 41.8 | |
| Colon | tissue | 41.1 | medium |
| Duodenum | tissue | 40.3 | medium |
| Vagina | tissue | 38.9 | not detected |
| Cervix | tissue | 38.3 | not detected |
| Small intestine | tissue | 38.1 | medium |
| Lung | tissue | 37.6 | not detected |
| Medulla oblongata | tissue | 37.0 | |
| Corpus callosum | tissue | 35.7 | |
| Thalamus | tissue | 34.8 | |
| Superior colliculi | tissue | 34.7 | |
| Spleen | tissue | 34.3 | not detected |
| Midbrain | tissue | 33.8 | |
| Postcentral gyrus | tissue | 33.7 | |
| Basal ganglia | tissue | 33.5 | not detected |
| Putamen | tissue | 33.4 | |
| Pons | tissue | 32.7 | |
| Hypothalamus | tissue | 32.6 | |
| Stomach 1 | tissue | 32.5 | not detected |
| Substantia nigra | tissue | 32.0 | |
| Liver | tissue | 31.8 | not detected |
| Septum | tissue | 31.5 | |
| Hippocampal formation | tissue | 31.2 | |
| Pancreas | tissue | 30.7 | not detected |
| Choroid plexus | tissue | 30.7 | |
| Fallopian tube | tissue | 30.6 | low |
| Bone marrow | tissue | 30.3 | not detected |
| Periaqueductal gray | tissue | 30.0 | |
| Urinary bladder | tissue | 29.8 | not detected |
| Ventral forebrain | tissue | 28.5 | |
| Smooth muscle | tissue | 28.3 | medium |
| Placenta | tissue | 28.0 | not detected |
| Cerebral cortex | tissue | 27.2 | not detected |
| Motor cortex | tissue | 27.2 | |
| Cerebellum | tissue | 26.4 | not detected |
| Rectum | tissue | 26.3 | medium |
| Esophagus | tissue | 26.2 | not detected |
| Somatosensory cortex | tissue | 26.2 | |
| Occipital cortex | tissue | 26.2 | |
| Prostate | tissue | 25.7 | not detected |
| Gallbladder | tissue | 25.6 | not detected |
| Olfactory bulb | tissue | 25.2 | |
| Prefrontal cortex | tissue | 25.1 | |
| Adipose tissue | tissue | 25.1 | not detected |
| Retina | tissue | 23.9 | |
| Entorhinal cortex | tissue | 23.8 |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Blood vessel (115.8), Area postrema (79.8), Inferior olive (73.1), Medial olivary nucleus (70.5), Nucleus gracilis (67.6).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting CDK2AP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
27 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-5000-3P | 98.79 | 65.63 | 1251 |
| HSA-MIR-3945 | 98.68 | 64.21 | 553 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-4436A | 98.05 | 64.83 | 1140 |
| HSA-MIR-4446-3P | 97.91 | 64.29 | 991 |
| HSA-MIR-4761-3P | 96.27 | 66.26 | 524 |
| HSA-MIR-4743-5P | 88.08 | 64.31 | 91 |
Functional genomics
gnomAD constraint: pLI 0.979, LOEUF 0.41, missense Z 0.73 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000301488 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 11:67,506,948–67,507,462 | 31 / 76.0 | 0.41 | no |
| 11:67,507,463–67,508,082 | 98 / 99.7 | 0.98 | no |
Literature-anchored findings (GeneRIF, showing 3)
- antitumor effects of DOC-1R may be mediated by negatively regulating G1 phase progression and G1/S transition through inhibiting CDK2 expression and activation (PMID:23781148)
- 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 (PMID:25675191)
- Novel circular RNA hsa_circ_0036683 suppresses proliferation and migration by mediating the miR-4664-3p/CDK2AP2 axis in non-small cell lung cancer. (PMID:39113208)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdk2ap2 | ENSDARG00000103145 |
| mus_musculus | Cdk2ap2 | ENSMUSG00000024856 |
| rattus_norvegicus | Cdk2ap2 | ENSRNOG00000018391 |
| drosophila_melanogaster | CDK2AP1 | FBGN0030269 |
| caenorhabditis_elegans | WBGENE00012807 |
Paralogs (1): CDK2AP1 (ENSG00000111328)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1098779) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| cataract | 1 |
| hyperactivity | 1 |
| increased vertical activity | 1 |
| decreased mean corpuscular hemoglobin | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Mesocricetus auratus | P49119 | 100.0% | Diamond |
| Bos taurus | Q58CN7 | 95.3% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| GPR152 | protein-coding | 390212 |
| CABP4 | protein-coding | 57010 |
| TMEM134 | protein-coding | 80194 |
| AIP | protein-coding | 9049 |
| PITPNM1 | protein-coding | 9600 |
| NDUFV1-DT | ncRNA | 100505621 |
| GSTP1 | protein-coding | 2950 |
| CABP2 | protein-coding | 51475 |
| MIR6752 | ncRNA | 102465450 |
| NDUFV1 | protein-coding | 4723 |
Protein
Protein identifiers
Cyclin-dependent kinase 2-associated protein 2 — O75956 (reviewed: O75956)
Alternative names: DOC-1-related protein
All UniProt accessions (4): O75956, E9PKR4, E9PQJ3, Q6IAV4
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Inhibits cell cycle G1/S phase transition by repressing CDK2 expression and activation; represses CDK2 activation by inhibiting its interaction with cyclin E and A. Plays a role in regulating the self-renewal of embryonic stem cells (ESCs) and in maintaining cell survival during terminal differentiation of ESCs. Regulates microtubule organization of metaphase II oocytes.
Subunit / interactions. Component of the nucleosome remodeling and deacetylase (NuRD) repressor complex, composed of core proteins MTA1, MTA2, MTA3, RBBP4, RBBP7, HDAC1, HDAC2, MBD2, MBD3, and peripherally associated proteins CDK2AP1, CDK2AP2, GATAD2A, GATAD2B, CHD3, CHD4 and CHD5. The exact stoichiometry of the NuRD complex is unknown, and some subunits such as MBD2 and MBD3, GATAD2A and GATAD2B, and CHD3, CHD4 and CHD5 define mutually exclusive NuRD complexes. Interacts with CDK2AP1. Interacts with CDK2. Interacts with MAPK1.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitous.
Post-translational modifications. Phosphorylated by MAPK1 and CDK2.
Similarity. Belongs to the CDK2AP family.
RefSeq proteins (2): NP_001258778, NP_005842* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR017266 | DOC_1/2 | Family |
Pfam: PF09806
UniProt features (8 total): helix 3, region of interest 2, chain 1, compositionally biased region 1, strand 1
Structure
Experimental structures (PDB)
1 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 2M1L | Solution NMR Structure of Cyclin-dependent kinase 2-associated protein 2 (CDK2AP2 … | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75956-F1 | 75.81 | 0.38 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm
Antibody reliability (HPA): IH uncertain · IF approved
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 2; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
2 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-9940951 | Interaction of NuRD complexes with transcription factors | curated |
| R-HSA-9937850 | NuRD complex assembly | curated |
MSigDB gene sets: 231 (showing top):
ATF_B, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCANCTGNY_MYOD_Q6, GOBP_CELL_CYCLE_PHASE_TRANSITION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, AREB6_01, CREBP1_Q2, ACTGCAG_MIR173P, chr11q13, CREB_Q4, GOBP_STEM_CELL_DIVISION
GO Biological Process (3): regulation of microtubule cytoskeleton organization (GO:0070507), regulation of stem cell division (GO:2000035), negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)
GO Molecular Function (2): protein binding (GO:0005515), kinase activity (GO:0016301)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), microtubule (GO:0005874), NuRD complex (GO:0016581)
Reactome top-level categories
2 top-level categories:
| Category | Pathways |
|---|---|
| CHD3, CHD4, CHD5 subfamily | 1 |
| NuRD complex assembly | 1 |
GO top-level categories
19 GO namespaces:
| Category | Terms |
|---|---|
| microtubule cytoskeleton organization | 1 |
| regulation of microtubule-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| stem cell division | 1 |
| regulation of cell division | 1 |
| G1/S transition of mitotic cell cycle | 1 |
| negative regulation of mitotic cell cycle phase transition | 1 |
| negative regulation of cell cycle G1/S phase transition | 1 |
| regulation of G1/S transition of mitotic cell cycle | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| histone deacetylase complex | 1 |
| transcription regulator complex | 1 |
| CHD-type complex | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).
3 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| negative regulation of G1/S transition of mitotic cell cycle | BP | mutant phenotype |
| NuRD complex | CC | direct assay |
| nucleus | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 512 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDK2AP2 | GARS1 | P41250 | 432 |
| CDK2AP2 | TMEM217 | Q8N7C4 | 431 |
| CDK2AP2 | ZMYND8 | Q9ULU4 | 416 |
| CDK2AP2 | CCDC86 | Q9H6F5 | 404 |
| CDK2AP2 | MANF | P55145 | 402 |
| CDK2AP2 | CDC26 | Q8NHZ8 | 388 |
| CDK2AP2 | ARHGAP15 | Q53QZ3 | 368 |
| CDK2AP2 | ZFP14 | Q9HCL3 | 367 |
| CDK2AP2 | ATP2B4 | P23634 | 367 |
| CDK2AP2 | LIN28B | Q6ZN17 | 365 |
| CDK2AP2 | ERLIN2 | O94905 | 364 |
| CDK2AP2 | BTBD16 | Q32M84 | 362 |
| CDK2AP2 | SPATA17 | Q96L03 | 349 |
| CDK2AP2 | GADD45GIP1 | Q8TAE8 | 317 |
| CDK2AP2 | AURKAIP1 | Q9NWT8 | 313 |
IntAct
Human interaction partners of CDK2AP2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
15 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| MRFAP1L1 | physical association | 0.560 | 3 |
| A2M | physical association | 0.370 | 1 |
| DBN1 | physical association | 0.370 | 1 |
| EED | physical association | 0.370 | 1 |
| EEF1G | physical association | 0.370 | 1 |
| HSF4 | physical association | 0.370 | 1 |
| IKZF1 | physical association | 0.370 | 1 |
| MBTPS1 | physical association | 0.370 | 1 |
| PYCR1 | physical association | 0.370 | 1 |
| RCC1 | physical association | 0.370 | 1 |
| RPLP1 | physical association | 0.370 | 1 |
| TRA2A | physical association | 0.370 | 1 |
| YIF1A | physical association | 0.370 | 1 |
| ZBTB48 | physical association | 0.370 | 1 |
| MTA3 | association | 0.350 | 1 |
BioGRID (55 interactions; top human partners by supporting records): CDK2AP1 (Two-hybrid; 4 records), CHD4 (Affinity Capture-MS; 3 records), HDAC2 (Affinity Capture-MS; 2 records), MRFAP1L1 (Two-hybrid; 2 records), A2M (Two-hybrid), APP (Reconstituted Complex), BCAR1 (Affinity Capture-MS), BCL11A (Affinity Capture-MS), CBL (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD5 (Affinity Capture-MS), DBN1 (Two-hybrid), DDX39A (Affinity Capture-RNA), EED (Two-hybrid), EEF1G (Two-hybrid)
Disease & clinical
Genetic variants
Variant evidence for CDK2AP2: 19 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
19 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 2 |
| Benign | 2 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 24 predictions of 195):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 11:67507363–67507364 | donor_loss | 1.0000 | 5 |
| 11:67507498–67507500 | acceptor_gain | 1.0000 | 2 |
| 11:67507499 | acceptor_loss | 1.0000 | |
| 11:67507505 | acceptor_gain | 1.0000 | |
| 11:67507690–67507691 | acceptor_loss | 0.9900 | 6 |
| 11:67507694 | acceptor_gain | 0.9900 | |
| 11:67507697 | acceptor_gain | 0.9900 | |
| 11:67507999–67508000 | donor_loss | 0.9900 | 5 |
| 11:67507498 | acceptor_gain | 0.9800 | |
| 11:67507499 | acceptor_loss | 0.9800 |
AlphaMissense
497 missense substitutions predicted likely pathogenic (of 795 scored), across 100 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M84 | 9 | 0.919 | 1.000 |
| M99 | 9 | 0.892 | 0.993 |
| S95 | 8 | 0.991 | 1.000 |
| H108 | 8 | 0.989 | 1.000 |
| D50 | 8 | 0.963 | 0.995 |
| F48 | 8 | 0.846 | 0.967 |
| E100 | 7 | 0.997 | 1.000 |
| C116 | 7 | 0.996 | 1.000 |
| E115 | 7 | 0.993 | 0.999 |
| E119 | 7 | 0.993 | 0.999 |
| E121 | 7 | 0.989 | 0.999 |
| I106 | 7 | 0.987 | 1.000 |
| S97 | 7 | 0.959 | 0.999 |
| K103 | 7 | 0.958 | 1.000 |
| E82 | 7 | 0.956 | 0.996 |
| I88 | 7 | 0.953 | 1.000 |
| I107 | 7 | 0.934 | 0.999 |
| F51 | 7 | 0.931 | 0.974 |
| E83 | 7 | 0.926 | 0.999 |
| E87 | 7 | 0.915 | 0.999 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 0.000245 |
Disease associations
OMIM: gene MIM:620061 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6010 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Cisplatin | decreases expression, increases expression | 2 |
| Nickel | increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| dicrotophos | increases expression | 1 |
| beauvericin | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Zoledronic Acid | increases expression, affects cotreatment | 1 |
| Fluvastatin | increases expression, affects cotreatment | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL966739 | Binding | Inhibition of Cdk2 | Identification of genotype-correlated sensitivity to selective kinase inhibitors by using high-throughput tumor cell line profiling. — *Proc Natl Acad Sci U S A* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for CDK2AP2 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.