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CDK2AP2

gene
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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

FieldValue
HGNC IDHGNC:30833
Approved symbolCDK2AP2
Namecyclin dependent kinase 2 associated protein 2
Location11q13.2
Locus typegene with protein product
StatusApproved
AliasesDOC-1R, p14
Ensembl geneENSG00000167797
Ensembl biotypeprotein_coding
OMIM620061
Entrez10263

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

ExonStartEnd
ENSE000011674056750649767507012
ENSE000011674126750800167508162
ENSE000035566996750736567507497
ENSE000036058616750759267507689

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:

TissueQTLq-valueSlopeLead variant
Skin Sun Exposed Lower legeqtl5.9e-15-0.5411:67508194:A:C
Livereqtl1.2e-11-0.2911:67580441:TGAGGCA:T
Esophagus Mucosaeqtl8.3e-10-0.6611:67508194:A:C
Skin Not Sun Exposed Suprapubiceqtl1.7e-06-0.4911:67508194:A:C
Colon Transverseeqtl4.4e-04+0.1211:67525763:G:A
Heart Atrial Appendagesqtl5.3e-03+2.1111:67748867:G:A
Brain Caudate basal gangliaeqtl6.4e-03+0.7911:68443784:G:A
Spleeneqtl1.2e-02-0.4611:68322940:C:T
Vaginaeqtl2.3e-02+0.9611:67950759:A:G
Brain Cortexeqtl2.6e-02+0.8011:67713320:C:T
Pituitaryeqtl2.6e-02-0.7811:68143209:C:T
Artery Tibialeqtl3.0e-02+0.0711:67949932:G:A
Minor Salivary Glandeqtl4.1e-02-0.6811:67629120:C:CG

FANTOM5 promoters

9 alternative TSS:

Promoter IDTPM avgSamples expressed
12094725.40961803
12095010.32531791
1209465.93861676
1209445.24301666
1209453.64031527
1209482.26601336
1209421.1723657
1209490.7017431
1209430.4149211

Top tissues by expression

showing 100 of 293 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
mucosa of transverse colonUBERON:000499198.54gold quality
apex of heartUBERON:000209898.02gold quality
right lobe of thyroid glandUBERON:000111997.90gold quality
right lobe of liverUBERON:000111497.68gold quality
right coronary arteryUBERON:000162597.63gold quality
granulocyteCL:000009497.60gold quality
thoracic aortaUBERON:000151597.54gold quality
ascending aortaUBERON:000149697.53gold quality
left coronary arteryUBERON:000162697.44gold quality
left lobe of thyroid glandUBERON:000112097.34gold quality
aortaUBERON:000094797.29gold quality
popliteal arteryUBERON:000225097.20gold quality
descending thoracic aortaUBERON:000234597.20gold quality
endometrium epitheliumUBERON:000481197.19gold quality
tibial arteryUBERON:000761097.18gold quality
oocyteCL:000002397.13gold quality
coronary arteryUBERON:000162197.09gold quality
body of pancreasUBERON:000115097.05gold quality
tibial nerveUBERON:000132396.99gold quality
lower esophagusUBERON:001347396.87gold quality
lower esophagus muscularis layerUBERON:003583396.87gold quality
heart left ventricleUBERON:000208496.84gold quality
metanephros cortexUBERON:001053396.74gold quality
esophagogastric junction muscularis propriaUBERON:003584196.62gold quality
cardiac ventricleUBERON:000208296.61gold quality
C1 segment of cervical spinal cordUBERON:000646996.46gold quality
thyroid glandUBERON:000204696.31gold quality
body of stomachUBERON:000116196.30gold quality
lower esophagus mucosaUBERON:003583496.19gold quality
adenohypophysisUBERON:000219696.18gold quality
transverse colonUBERON:000115796.16gold quality
right atrium auricular regionUBERON:000663196.04gold quality
upper lobe of left lungUBERON:000895295.89gold quality
right adrenal glandUBERON:000123395.78gold quality
mucosa of stomachUBERON:000119995.75gold quality
left uterine tubeUBERON:000130395.75gold quality
left adrenal glandUBERON:000123495.53gold quality
esophagusUBERON:000104395.34gold quality
upper lobe of lungUBERON:000894895.34gold quality
left adrenal gland cortexUBERON:003582595.34gold quality
heartUBERON:000094895.31gold quality
spinal cordUBERON:000224095.25gold quality
pituitary glandUBERON:000000795.24gold quality
omental fat padUBERON:001041495.15gold quality
cardiac atriumUBERON:000208195.14gold quality
peritoneumUBERON:000235895.10gold quality
muscle layer of sigmoid colonUBERON:003580595.03gold quality
adrenal cortexUBERON:000123595.02gold quality
right adrenal gland cortexUBERON:003582794.97gold quality
right lungUBERON:000216794.91gold quality
small intestine Peyer’s patchUBERON:000345494.86gold quality
lymph nodeUBERON:000002994.74gold quality
endocervixUBERON:000045894.58gold quality
adipose tissue of abdominal regionUBERON:000780894.45gold quality
esophagus mucosaUBERON:000246994.34gold quality
adult mammalian kidneyUBERON:000008294.26gold quality
amygdalaUBERON:000187694.26gold quality
spleenUBERON:000210694.25gold quality
sigmoid colonUBERON:000115994.22gold quality
adrenal glandUBERON:000236994.22gold quality
colonUBERON:000115594.16gold quality
small intestineUBERON:000210894.13gold quality
fundus of stomachUBERON:000116094.07gold quality
stomachUBERON:000094593.97gold quality
caudate nucleusUBERON:000187393.88gold quality
cingulate cortexUBERON:000302793.87gold quality
anterior cingulate cortexUBERON:000983593.86gold quality
large intestineUBERON:000005993.83gold quality
putamenUBERON:000187493.80gold quality
nucleus accumbensUBERON:000188293.79gold quality
right frontal lobeUBERON:000281093.66gold quality
right hemisphere of cerebellumUBERON:001489093.66gold quality
ectocervixUBERON:001224993.64gold quality
olfactory segment of nasal mucosaUBERON:000538693.61gold quality
middle frontal gyrusUBERON:000270293.46gold quality
intestineUBERON:000016093.45gold quality
minor salivary glandUBERON:000183093.45gold quality
duodenumUBERON:000211493.38gold quality
prostate glandUBERON:000236793.23gold quality
vermiform appendixUBERON:000115493.17gold quality
cerebellar hemisphereUBERON:000224593.07gold quality
body of uterusUBERON:000985393.03gold quality
right ovaryUBERON:000211893.01gold quality
cerebellar cortexUBERON:000212992.98gold quality
paraflocculusUBERON:000535192.93gold quality
olfactory bulbUBERON:000226492.90silver quality
bone marrow cellCL:000209292.83gold quality
saliva-secreting glandUBERON:000104492.79gold quality
caecumUBERON:000115392.77gold quality
liverUBERON:000210792.44gold quality
leukocyteCL:000073892.18gold quality
bloodUBERON:000017892.17gold quality
corpus epididymisUBERON:000435992.17gold quality
thymusUBERON:000237092.07gold quality
monocyteCL:000057692.04gold quality
mouth mucosaUBERON:000372992.02gold quality
cerebellumUBERON:000203792.01gold quality
prefrontal cortexUBERON:000045191.99gold quality
pancreasUBERON:000126491.89gold quality
left ovaryUBERON:000211991.80gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-HCAD-6yes33.87
E-MTAB-6701yes18.19
E-HCAD-11yes18.03
E-ANND-3no0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Epididymistissue80.8not detected
Thyroid glandtissue66.6not detected
Heart muscletissue61.8medium
Lymph nodetissue60.6low
Pituitary glandtissue59.0
Thymustissue51.9
Adrenal glandtissue51.7medium
Locus coeruleustissue48.8
Tonsiltissue45.2low
Spinal cordtissue45.0
Salivary glandtissue44.4not detected
Hippocampustissue44.0not detected
Appendixtissue43.5medium
Seminal vesicletissue43.1not detected
Nucleus accumbenstissue41.8
Colontissue41.1medium
Duodenumtissue40.3medium
Vaginatissue38.9not detected
Cervixtissue38.3not detected
Small intestinetissue38.1medium
Lungtissue37.6not detected
Medulla oblongatatissue37.0
Corpus callosumtissue35.7
Thalamustissue34.8
Superior colliculitissue34.7
Spleentissue34.3not detected
Midbraintissue33.8
Postcentral gyrustissue33.7
Basal gangliatissue33.5not detected
Putamentissue33.4
Ponstissue32.7
Hypothalamustissue32.6
Stomach 1tissue32.5not detected
Substantia nigratissue32.0
Livertissue31.8not detected
Septumtissue31.5
Hippocampal formationtissue31.2
Pancreastissue30.7not detected
Choroid plexustissue30.7
Fallopian tubetissue30.6low
Bone marrowtissue30.3not detected
Periaqueductal graytissue30.0
Urinary bladdertissue29.8not detected
Ventral forebraintissue28.5
Smooth muscletissue28.3medium
Placentatissue28.0not detected
Cerebral cortextissue27.2not detected
Motor cortextissue27.2
Cerebellumtissue26.4not detected
Rectumtissue26.3medium
Esophagustissue26.2not detected
Somatosensory cortextissue26.2
Occipital cortextissue26.2
Prostatetissue25.7not detected
Gallbladdertissue25.6not detected
Olfactory bulbtissue25.2
Prefrontal cortextissue25.1
Adipose tissuetissue25.1not detected
Retinatissue23.9
Entorhinal cortextissue23.8

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:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-449399.9066.48977
HSA-MIR-4671-3P99.8872.461045
HSA-MIR-444799.8567.812900
HSA-MIR-548F-5P99.7871.023093
HSA-MIR-451699.6167.783390
HSA-MIR-671-5P99.5267.111277
HSA-MIR-444199.4966.563216
HSA-MIR-519D-5P99.4169.302057
HSA-MIR-425499.1165.151315
HSA-MIR-570399.1067.092053
HSA-MIR-443499.1067.011984
HSA-MIR-427099.0266.261987
HSA-MIR-3194-3P98.8366.221167
HSA-MIR-5000-3P98.7965.631251
HSA-MIR-394598.6864.21553
HSA-MIR-6840-3P98.6865.951923
HSA-MIR-6754-5P98.6065.541627
HSA-MIR-6878-5P98.4967.912142
HSA-MIR-4436A98.0564.831140
HSA-MIR-4446-3P97.9164.29991
HSA-MIR-4761-3P96.2766.26524
HSA-MIR-4743-5P88.0864.3191

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 / expo/eConstrained
11:67,506,948–67,507,46231 / 76.00.41no
11:67,507,463–67,508,08298 / 99.70.98no

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

OrganismSymbolGene ID
danio_reriocdk2ap2ENSDARG00000103145
mus_musculusCdk2ap2ENSMUSG00000024856
rattus_norvegicusCdk2ap2ENSRNOG00000018391
drosophila_melanogasterCDK2AP1FBGN0030269
caenorhabditis_elegansWBGENE00012807

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
cataract1
hyperactivity1
increased vertical activity1
decreased mean corpuscular hemoglobin1

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.

OrganismUniProtIdentityMethod
Mesocricetus auratusP49119100.0%Diamond
Bos taurusQ58CN795.3%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).

SymbolTypeEntrez
GPR152protein-coding390212
CABP4protein-coding57010
TMEM134protein-coding80194
AIPprotein-coding9049
PITPNM1protein-coding9600
NDUFV1-DTncRNA100505621
GSTP1protein-coding2950
CABP2protein-coding51475
MIR6752ncRNA102465450
NDUFV1protein-coding4723

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)

IDNameType
IPR017266DOC_1/2Family

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:

PDBTitleMethodResolution (Å)
2M1LSolution NMR Structure of Cyclin-dependent kinase 2-associated protein 2 (CDK2AP2 …SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O75956-F175.810.38

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:

IDPathwayEvidence
R-HSA-9940951Interaction of NuRD complexes with transcription factorscurated
R-HSA-9937850NuRD complex assemblycurated

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:

CategoryPathways
CHD3, CHD4, CHD5 subfamily1
NuRD complex assembly1

GO top-level categories

19 GO namespaces:

CategoryTerms
microtubule cytoskeleton organization1
regulation of microtubule-based process1
regulation of cytoskeleton organization1
stem cell division1
regulation of cell division1
G1/S transition of mitotic cell cycle1
negative regulation of mitotic cell cycle phase transition1
negative regulation of cell cycle G1/S phase transition1
regulation of G1/S transition of mitotic cell cycle1
binding1
transferase activity, transferring phosphorus-containing groups1
intracellular membrane-bounded organelle1
intracellular anatomical structure1
cellular anatomical structure1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
histone deacetylase complex1
transcription regulator complex1
CHD-type complex1

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 termNSEvidence
negative regulation of G1/S transition of mitotic cell cycleBPmutant phenotype
NuRD complexCCdirect assay
nucleusCCdirect assay

Protein interactions and networks

STRING

showing 15 of 512 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
CDK2AP2GARS1P41250432
CDK2AP2TMEM217Q8N7C4431
CDK2AP2ZMYND8Q9ULU4416
CDK2AP2CCDC86Q9H6F5404
CDK2AP2MANFP55145402
CDK2AP2CDC26Q8NHZ8388
CDK2AP2ARHGAP15Q53QZ3368
CDK2AP2ZFP14Q9HCL3367
CDK2AP2ATP2B4P23634367
CDK2AP2LIN28BQ6ZN17365
CDK2AP2ERLIN2O94905364
CDK2AP2BTBD16Q32M84362
CDK2AP2SPATA17Q96L03349
CDK2AP2GADD45GIP1Q8TAE8317
CDK2AP2AURKAIP1Q9NWT8313

IntAct

Human interaction partners of CDK2AP2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

15 partners by confidence:

PartnerInteraction typeMIscoreRecords
MRFAP1L1physical association0.5603
A2Mphysical association0.3701
DBN1physical association0.3701
EEDphysical association0.3701
EEF1Gphysical association0.3701
HSF4physical association0.3701
IKZF1physical association0.3701
MBTPS1physical association0.3701
PYCR1physical association0.3701
RCC1physical association0.3701
RPLP1physical association0.3701
TRA2Aphysical association0.3701
YIF1Aphysical association0.3701
ZBTB48physical association0.3701
MTA3association0.3501

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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance12
Likely benign2
Benign2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 24 predictions of 195):

Position(s)EffectΔscoreSites
11:67507363–67507364donor_loss1.00005
11:67507498–67507500acceptor_gain1.00002
11:67507499acceptor_loss1.0000
11:67507505acceptor_gain1.0000
11:67507690–67507691acceptor_loss0.99006
11:67507694acceptor_gain0.9900
11:67507697acceptor_gain0.9900
11:67507999–67508000donor_loss0.99005
11:67507498acceptor_gain0.9800
11:67507499acceptor_loss0.9800

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:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M8490.9191.000
M9990.8920.993
S9580.9911.000
H10880.9891.000
D5080.9630.995
F4880.8460.967
E10070.9971.000
C11670.9961.000
E11570.9930.999
E11970.9930.999
E12170.9890.999
I10670.9871.000
S9770.9590.999
K10370.9581.000
E8270.9560.996
I8870.9531.000
I10770.9340.999
F5170.9310.974
E8370.9260.999
E8770.9150.999

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

CancerPrognosticp-value
Liver Hepatocellular Carcinoma (TCGA)unfavorable0.000245

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.

ChemicalActions (top 5)PubMed papers
Cyclosporineincreases expression4
bisphenol Aaffects expression, decreases expression2
sodium arseniteaffects cotreatment, decreases expression, increases abundance, increases expression2
Benzo(a)pyreneaffects methylation, decreases expression2
Cisplatindecreases expression, increases expression2
Nickelincreases expression2
Smokedecreases expression, increases abundance, increases expression2
Tetrachlorodibenzodioxinincreases expression2
Tunicamycinincreases expression2
Valproic Acidaffects expression, increases expression2
Cadmium Chloridedecreases expression, increases abundance, increases expression2
Thapsigarginincreases expression2
dicrotophosincreases expression1
beauvericindecreases expression1
methyleugenoldecreases expression1
arseniteaffects binding, increases reaction1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, increases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic acidincreases expression1
CGP 52608increases reaction, affects binding1
perfluoro-n-nonanoic aciddecreases expression1
abrinedecreases expression1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)increases expression1
licochalcone Bincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Temozolomidedecreases expression1
Zoledronic Acidincreases expression, affects cotreatment1
Fluvastatinincreases expression, affects cotreatment1
Air Pollutantsincreases abundance, increases expression1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL966739BindingInhibition of Cdk2Identification 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.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.