CKAP2
gene geneOn this page
Also known as LB1FLJ10749se20-10TMAP
Summary
CKAP2 (cytoskeleton associated protein 2, HGNC:1990) is a protein-coding gene on chromosome 13q14.3, encoding Cytoskeleton-associated protein 2 (Q8WWK9). Possesses microtubule stabilizing properties.
This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations.
Source: NCBI Gene 26586 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 105 total — 1 pathogenic
- MANE Select transcript:
NM_018204
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1990 |
| Approved symbol | CKAP2 |
| Name | cytoskeleton associated protein 2 |
| Location | 13q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LB1, FLJ10749, se20-10, TMAP |
| Ensembl gene | ENSG00000136108 |
| Ensembl biotype | protein_coding |
| OMIM | 611569 |
| Entrez | 26586 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron
ENST00000258607, ENST00000378034, ENST00000378037, ENST00000459902, ENST00000468284, ENST00000480747, ENST00000490903, ENST00000898697, ENST00000898698, ENST00000898699
RefSeq mRNA: 4 — MANE Select: NM_018204
NM_001098525, NM_001286686, NM_001286687, NM_018204
CCDS: CCDS41893, CCDS66557, CCDS73578, CCDS9435
Canonical transcript exons
ENST00000258607 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000923580 | 52461058 | 52461926 |
| ENSE00000923581 | 52462363 | 52462567 |
| ENSE00000923582 | 52465295 | 52465465 |
| ENSE00000923583 | 52468278 | 52468347 |
| ENSE00000923584 | 52473829 | 52474084 |
| ENSE00000939602 | 52460899 | 52460974 |
| ENSE00003659399 | 52456523 | 52456607 |
| ENSE00003845744 | 52455478 | 52455626 |
| ENSE00003850705 | 52474895 | 52476627 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 98.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.2193 / max 832.8301, expressed in 1805 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135223 | 44.1552 | 1801 |
| 135226 | 0.9631 | 563 |
| 135227 | 0.5940 | 279 |
| 135224 | 0.3873 | 191 |
| 135225 | 0.1197 | 33 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 98.22 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.70 | gold quality |
| embryo | UBERON:0000922 | 94.44 | gold quality |
| oocyte | CL:0000023 | 94.32 | gold quality |
| secondary oocyte | CL:0000655 | 94.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.16 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.76 | gold quality |
| bone marrow | UBERON:0002371 | 88.88 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.86 | gold quality |
| monocyte | CL:0000576 | 87.00 | gold quality |
| bone marrow cell | CL:0002092 | 86.90 | gold quality |
| mononuclear cell | CL:0000842 | 86.86 | gold quality |
| testis | UBERON:0000473 | 86.72 | gold quality |
| hair follicle | UBERON:0002073 | 86.57 | gold quality |
| right testis | UBERON:0004534 | 86.31 | gold quality |
| leukocyte | CL:0000738 | 86.26 | gold quality |
| stromal cell of endometrium | CL:0002255 | 86.22 | gold quality |
| left testis | UBERON:0004533 | 86.09 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 85.74 | gold quality |
| endothelial cell | CL:0000115 | 85.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.25 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.77 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 82.43 | gold quality |
| rectum | UBERON:0001052 | 82.34 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.65 | gold quality |
| lymph node | UBERON:0000029 | 81.17 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 80.95 | gold quality |
| squamous epithelium | UBERON:0006914 | 80.78 | gold quality |
| tonsil | UBERON:0002372 | 80.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.39 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RARB, TP53
miRNA regulators (miRDB)
86 targeting CKAP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
Literature-anchored findings (GeneRIF, showing 20)
- CKAP2 comprises nine exons ranging 70-1442 bp and is about 22 kb in size (regulatory regions included). The CKAP2 promoter contains CCAAT (-39…-33) rather than the canonical TATA box, and harbors nine binding sites for six transcription factors (PMID:12500535)
- protein is expressed cell cycle dependently and it is involved in cell proliferation (PMID:16876122)
- Data show that degradation of TMAP/CKAP2 during mitotic exit is mediated by the anaphase-promoting complex bound to Cdh1 and that the KEN box motif near the N terminus is necessary for its destruction. (PMID:17339342)
- CKAP2 is a physiological substrate of anaphase-promoting complex/cyclosome during mitotic exit and that a tight regulation of the CKAP2 protein level is critical for the normal mitotic progression. (PMID:17376772)
- Cdk1-cyclin B1-mediated phosphorylation of TMAP is important for and contributes to proper regulation of microtubule dynamics and establishment of functional bipolar spindles during mitosis (PMID:19369249)
- TMAP is limited to pre-anaphase stages and suggest that the multiple phosphorylation may not act in concert but serve diverse functions. (PMID:19641375)
- Findings suggest that the motif surrounding Ser627 ((625) RRSRRL (630)) is a critical for kinase-substrate recognition and for regulation of the subcellular localization of TMAP during mitosis. (PMID:20458174)
- GC box was responsible for the cyclic activity of human CKAP2 promoter through the phosphorylation of Sp1, possibly by Cyclin A/Cdk complex. (PMID:22465120)
- CKAP2 is involved in the maintenance of microtubule nucleation sites (PMID:23737987)
- expression might be a potential biologic marker for identifying hepatocellular carcinoma patients at risk of early and extensive recurrence after operative resection (PMID:24238125)
- The transcriptional activity of RHOA, SEMA3B, and CKAP2 genes was assessed in blood samples of leukaemia patients and healthy donors. (PMID:24280143)
- Chromatin CKAP2 is an independent prognostic marker for relapse-free survival in early-stage breast cancer, and could potentially replace the mitotic activity index in clinical evaluation of proliferation activity. (PMID:24887265)
- CKAP2 acts as a functional oncogene in cervical carcinoma development and may exert its function by targeting FAK-ERK2 signaling pathway. (PMID:28522860)
- High CKAP2 expression is associated with Ovarian Cancer. (PMID:28933561)
- High CKAP2 expression is associated with highgrade glioma. (PMID:30066946)
- Knockdown of CKAP2 expression effectively suppressed the proliferation and induced the apoptosis by inhibiting the phosphorylation of JAK2/STAT3 of osteosarcoma cells. (PMID:30119212)
- Cytoskeleton-associated protein 2 (CKAP2) is regulated by vascular endothelial growth factor and p53 in retinal capillary endothelial cells under high-glucose conditions. (PMID:34216644)
- LncRNA DARS-AS1 aggravates the growth and metastasis of hepatocellular carcinoma via regulating the miR-3200-5p-Cytoskeleton associated protein 2 (CKAP2) axis. (PMID:34596006)
- Long non-coding RNA DLEU1 promotes malignancy of breast cancer by acting as an indispensable coactivator for HIF-1alpha-induced transcription of CKAP2. (PMID:35853854)
- CKAP2 overexpression correlates with worse overall survival in patients with lung adenocarcinoma. (PMID:35905213)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-266i6.3 | ENSDARG00000086112 |
| mus_musculus | Ckap2 | ENSMUSG00000037725 |
| rattus_norvegicus | Ckap2 | ENSRNOG00000024650 |
Paralogs (1): CKAP2L (ENSG00000169607)
Protein
Protein identifiers
Cytoskeleton-associated protein 2 — Q8WWK9 (reviewed: Q8WWK9)
Alternative names: CTCL tumor antigen se20-10, Tumor- and microtubule-associated protein
All UniProt accessions (3): C9J649, C9J7Y4, Q8WWK9
UniProt curated annotations — full annotation on UniProt →
Function. Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53-dependent manner.
Subunit / interactions. Associates with alpha- and beta-tubulins.
Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Spindle pole.
Tissue specificity. Abundant in testis, thymus, and in tumor derived cell lines, while barely detectable in liver, prostate, and kidney.
Induction. Up-regulated in primary human gastric cancers.
Similarity. Belongs to the CKAP2 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WWK9-1 | 1 | yes |
| Q8WWK9-4 | 2 | |
| Q8WWK9-6 | 4 | |
| Q8WWK9-5 | 3 |
RefSeq proteins (4): NP_001091995, NP_001273615, NP_001273616, NP_060674* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026165 | CKAP2_fam | Family |
| IPR029197 | CKAP2_C | Domain |
Pfam: PF15297
UniProt features (30 total): modified residue 10, sequence conflict 6, region of interest 4, splice variant 4, compositionally biased region 3, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WWK9-F1 | 59.29 | 0.10 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (10): 534, 579, 582, 595, 596, 597, 599, 602, 178, 190
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 269 (showing top):
GOBP_MITOTIC_CYTOKINESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, GNF2_CENPF, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, SHEPARD_BMYB_MORPHOLINO_DN, GOLDRATH_ANTIGEN_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOBP_CYTOKINESIS
GO Biological Process (4): mitotic cytokinesis (GO:0000281), apoptotic process (GO:0006915), negative regulation of microtubule depolymerization (GO:0007026), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (0):
GO Cellular Component (11): spindle pole (GO:0000922), nucleolus (GO:0005730), centrosome (GO:0005813), microtubule (GO:0005874), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), ciliary basal body (GO:0036064), mitotic spindle (GO:0072686), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 3 |
| spindle | 2 |
| cellular anatomical structure | 2 |
| microtubule organizing center | 2 |
| microtubule cytoskeleton | 2 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| microtubule depolymerization | 1 |
| negative regulation of microtubule polymerization or depolymerization | 1 |
| regulation of microtubule depolymerization | 1 |
| negative regulation of protein depolymerization | 1 |
| negative regulation of supramolecular fiber organization | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| polymeric cytoskeletal fiber | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cytoskeleton | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1370 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CKAP2 | CDKN1B | P46527 | 562 |
| CKAP2 | GAS2L3 | Q86XJ1 | 552 |
| CKAP2 | BUB1 | O43683 | 545 |
| CKAP2 | LMNB1 | P20700 | 530 |
| CKAP2 | BIRC5 | O15392 | 528 |
| CKAP2 | CEP55 | Q53EZ4 | 517 |
| CKAP2 | CDK1 | P06493 | 515 |
| CKAP2 | BUB1B | O60566 | 513 |
| CKAP2 | NEK2 | P51955 | 489 |
| CKAP2 | PIMREG | Q9BSJ6 | 488 |
| CKAP2 | GRM1 | Q13255 | 484 |
| CKAP2 | RACGAP1 | Q9H0H5 | 483 |
| CKAP2 | G2E3 | Q7L622 | 476 |
| CKAP2 | CKAP5 | Q14008 | 471 |
| CKAP2 | GFAP | P14136 | 455 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CEP170 | KIF2A | psi-mi:“MI:2364”(proximity) | 0.650 |
| CEP104 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.540 |
| MIS12 | SPC24 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAK2 | OGT | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM171 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| MAD2L1 | PPIP5K2 | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| LRRK1 | CKAP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CEP162 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.420 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Wdr5 | MGA | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | ALYREF | psi-mi:“MI:0914”(association) | 0.350 |
| Tpx2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC33A1 | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF22 | PSEN2 | psi-mi:“MI:0914”(association) | 0.350 |
| LDHD | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| IGHA1 | PLG | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (164): CKAP2 (Affinity Capture-MS), CKAP2 (Affinity Capture-MS), CKAP2 (Affinity Capture-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Affinity Capture-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS), CKAP2 (Proximity Label-MS)
ESM2 similar proteins: A0JMZ1, A1L2F3, A1L3I5, A2AG50, A5D7U0, A9C3N6, B7ZD04, E7F568, O13024, O75167, P53352, P86345, P86346, Q0IHP2, Q0P4A6, Q0V9F7, Q10189, Q15398, Q1W1G1, Q24595, Q2YDJ0, Q32N93, Q3KPK4, Q3KQW7, Q4V7H8, Q563C3, Q5BKG8, Q5R1T0, Q5R7F8, Q5SPR8, Q5XG21, Q5XLR4, Q5ZJU5, Q6CNI5, Q6GLC7, Q7K3L1, Q7TS74, Q801E2, Q8IYA6, Q8K298
Diamond homologs: A5D7U0, Q3V1H1, Q5R7F8, Q8WWK9, A5PK21, Q8IYA6, Q7TS74
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AURKB | up-regulates | CKAP2 | phosphorylation |
| CDK1 | up-regulates | CKAP2 | phosphorylation |
| CyclinB/CDK1 | up-regulates | CKAP2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 110 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 9 | 20.1× | 8e-08 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 9 | 20.1× | 8e-08 |
| AURKA Activation by TPX2 | 9 | 19.3× | 8e-08 |
| Recruitment of mitotic centrosome proteins and complexes | 9 | 17.2× | 2e-07 |
| Recruitment of NuMA to mitotic centrosomes | 10 | 16.4× | 8e-08 |
| Regulation of PLK1 Activity at G2/M Transition | 9 | 16.1× | 3e-07 |
| Anchoring of the basal body to the plasma membrane | 10 | 15.9× | 8e-08 |
| Amplification of signal from the kinetochores | 5 | 13.9× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| non-motile cilium assembly | 5 | 15.1× | 4e-03 |
| cilium assembly | 9 | 6.9× | 2e-03 |
| cell division | 13 | 6.2× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 9 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3024581 | GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 | Pathogenic |
SpliceAI
1570 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:52455622:CAAAG:C | donor_loss | 1.0000 |
| 13:52455623:AAAG:A | donor_loss | 1.0000 |
| 13:52455626:GGTGA:G | donor_loss | 1.0000 |
| 13:52455627:G:GA | donor_loss | 1.0000 |
| 13:52456521:A:AG | acceptor_gain | 1.0000 |
| 13:52456521:AGAG:A | acceptor_loss | 1.0000 |
| 13:52456522:G:GA | acceptor_gain | 1.0000 |
| 13:52456522:GA:G | acceptor_gain | 1.0000 |
| 13:52456522:GAGC:G | acceptor_gain | 1.0000 |
| 13:52456607:GGTAA:G | donor_loss | 1.0000 |
| 13:52456608:G:GG | donor_gain | 1.0000 |
| 13:52456609:T:G | donor_loss | 1.0000 |
| 13:52460894:A:G | acceptor_gain | 1.0000 |
| 13:52460895:G:GG | acceptor_gain | 1.0000 |
| 13:52460895:GTA:G | acceptor_gain | 1.0000 |
| 13:52461925:AA:A | donor_gain | 1.0000 |
| 13:52461926:AG:A | donor_loss | 1.0000 |
| 13:52461927:G:GG | donor_gain | 1.0000 |
| 13:52462526:G:GG | donor_gain | 1.0000 |
| 13:52463714:GGA:G | donor_gain | 1.0000 |
| 13:52465292:TAG:T | acceptor_loss | 1.0000 |
| 13:52465293:A:AG | acceptor_gain | 1.0000 |
| 13:52465293:A:C | acceptor_loss | 1.0000 |
| 13:52465293:AG:A | acceptor_gain | 1.0000 |
| 13:52465293:AGG:A | acceptor_gain | 1.0000 |
| 13:52465294:G:A | acceptor_gain | 1.0000 |
| 13:52465294:G:GA | acceptor_gain | 1.0000 |
| 13:52465294:GGG:G | acceptor_gain | 1.0000 |
| 13:52465294:GGGA:G | acceptor_gain | 1.0000 |
| 13:52465294:GGGAT:G | acceptor_gain | 1.0000 |
AlphaMissense
4511 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:52474967:A:C | R626S | 0.994 |
| 13:52474967:A:T | R626S | 0.994 |
| 13:52474966:G:C | R626T | 0.990 |
| 13:52465445:G:C | A487P | 0.989 |
| 13:52465376:T:A | W464R | 0.988 |
| 13:52465376:T:C | W464R | 0.988 |
| 13:52475014:T:C | L642S | 0.987 |
| 13:52465446:C:A | A487D | 0.983 |
| 13:52474965:A:G | R626G | 0.982 |
| 13:52465335:T:C | L450P | 0.980 |
| 13:52474954:T:C | L622S | 0.979 |
| 13:52465382:T:C | C466R | 0.978 |
| 13:52465461:C:A | A492D | 0.977 |
| 13:52475053:T:C | L655P | 0.977 |
| 13:52465373:T:G | Y463D | 0.976 |
| 13:52468294:G:C | R499P | 0.976 |
| 13:52474971:T:C | S628P | 0.976 |
| 13:52474977:C:A | R630S | 0.976 |
| 13:52474951:T:C | F621S | 0.975 |
| 13:52474978:G:C | R630P | 0.975 |
| 13:52474968:C:A | R627S | 0.974 |
| 13:52474960:C:A | P624Q | 0.973 |
| 13:52475082:T:C | F665L | 0.973 |
| 13:52475084:T:A | F665L | 0.973 |
| 13:52475084:T:G | F665L | 0.973 |
| 13:52474969:G:C | R627P | 0.970 |
| 13:52465326:T:C | L447P | 0.969 |
| 13:52474966:G:T | R626I | 0.969 |
| 13:52465378:G:C | W464C | 0.967 |
| 13:52465378:G:T | W464C | 0.967 |
dbSNP variants (sampled 300 via entrez): RS1000100365 (13:52463404 C>T), RS1000320568 (13:52472450 T>C), RS1000594134 (13:52455775 C>G,T), RS1000835057 (13:52463831 T>A), RS1000837991 (13:52473322 A>G), RS1000979529 (13:52467249 A>G), RS1000989313 (13:52457505 T>C), RS1001026901 (13:52455937 C>G,T), RS1001219786 (13:52466796 C>T), RS1001289500 (13:52457341 T>C,G), RS1001321504 (13:52460535 C>G,T), RS1001377775 (13:52456894 A>T), RS1001451698 (13:52467598 A>G), RS1001507093 (13:52473580 G>A,C), RS1001651360 (13:52466955 T>A,C,G)
Disease associations
OMIM: gene MIM:611569 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 5 |
| Cyclosporine | decreases expression | 4 |
| bisphenol A | decreases expression, affects expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Resveratrol | affects cotreatment, increases expression | 2 |
| Doxorubicin | affects response to substance, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Plant Extracts | affects cotreatment, increases expression, decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| Cadmium Chloride | decreases expression, decreases methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| cupric oxide | decreases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7MM | Ubigene A-549 CKAP2 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.