CAMKV
gene geneOn this page
Also known as MGC8407VACAMKL
Summary
CAMKV (CaM kinase like vesicle associated, HGNC:28788) is a protein-coding gene on chromosome 3p21.31, encoding CaM kinase-like vesicle-associated protein (Q8NCB2). Does not appear to have detectable kinase activity.
Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in signal transduction. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in cytoplasm; glutamatergic synapse; and postsynapse.
Source: NCBI Gene 79012 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_024046
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28788 |
| Approved symbol | CAMKV |
| Name | CaM kinase like vesicle associated |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC8407, VACAMKL |
| Ensembl gene | ENSG00000164076 |
| Ensembl biotype | protein_coding |
| OMIM | 614993 |
| Entrez | 79012 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 13 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000296471, ENST00000463537, ENST00000466535, ENST00000466940, ENST00000467248, ENST00000472895, ENST00000475665, ENST00000476105, ENST00000477224, ENST00000478149, ENST00000479704, ENST00000480398, ENST00000483811, ENST00000487726, ENST00000488336, ENST00000498324, ENST00000620470, ENST00000865409, ENST00000911456, ENST00000911457, ENST00000951010, ENST00000951011
RefSeq mRNA: 2 — MANE Select: NM_024046
NM_001320147, NM_024046
CCDS: CCDS33762, CCDS82776
Canonical transcript exons
ENST00000477224 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001278153 | 49857989 | 49859881 |
| ENSE00002025285 | 49869758 | 49869906 |
| ENSE00003462570 | 49862294 | 49862402 |
| ENSE00003475157 | 49861791 | 49861865 |
| ENSE00003504579 | 49860943 | 49861018 |
| ENSE00003531850 | 49861439 | 49861577 |
| ENSE00003537236 | 49860471 | 49860549 |
| ENSE00003581903 | 49861180 | 49861300 |
| ENSE00003623695 | 49862045 | 49862176 |
| ENSE00003669474 | 49860716 | 49860852 |
| ENSE00003693033 | 49860171 | 49860258 |
Expression profiles
Bgee: expression breadth ubiquitous, 141 present calls, max score 99.39.
FANTOM5 (CAGE): breadth broad, TPM avg 12.4536 / max 792.2294, expressed in 335 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42283 | 12.4536 | 335 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.39 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.51 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.89 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.38 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.30 | gold quality |
| putamen | UBERON:0001874 | 95.92 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.79 | gold quality |
| cingulate cortex | UBERON:0003027 | 95.76 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.62 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.51 | gold quality |
| frontal cortex | UBERON:0001870 | 95.23 | gold quality |
| neocortex | UBERON:0001950 | 94.82 | gold quality |
| cerebral cortex | UBERON:0000956 | 93.95 | gold quality |
| telencephalon | UBERON:0001893 | 93.69 | gold quality |
| amygdala | UBERON:0001876 | 93.58 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.36 | gold quality |
| Ammon’s horn | UBERON:0001954 | 92.49 | gold quality |
| forebrain | UBERON:0001890 | 92.08 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.88 | gold quality |
| temporal lobe | UBERON:0001871 | 91.53 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.20 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.38 | gold quality |
| hypothalamus | UBERON:0001898 | 90.01 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 89.49 | gold quality |
| entorhinal cortex | UBERON:0002728 | 89.19 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.21 | gold quality |
| brain | UBERON:0000955 | 88.15 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.08 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.05 | gold quality |
| parietal lobe | UBERON:0001872 | 86.82 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 63.23 |
| E-GEOD-93593 | yes | 7.10 |
| E-ANND-3 | no | 0.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting CAMKV, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| 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-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | camkvb | ENSDARG00000005141 |
| danio_rerio | camkva | ENSDARG00000027963 |
| mus_musculus | Camkv | ENSMUSG00000032936 |
| rattus_norvegicus | Camkv | ENSRNOG00000058938 |
Paralogs (22): CAMKK1 (ENSG00000004660), CAMK1G (ENSG00000008118), CAMK2B (ENSG00000058404), CAMK2A (ENSG00000070808), MYLK2 (ENSG00000101306), CAMKK2 (ENSG00000110931), STK11 (ENSG00000118046), STK33 (ENSG00000130413), PNCK (ENSG00000130822), DCLK1 (ENSG00000133083), CAMK1 (ENSG00000134072), MYLK3 (ENSG00000140795), CAMK2D (ENSG00000145349), MYLK4 (ENSG00000145949), PSKH2 (ENSG00000147613), CAMK2G (ENSG00000148660), PHKG2 (ENSG00000156873), PSKH1 (ENSG00000159792), DCLK3 (ENSG00000163673), PHKG1 (ENSG00000164776), DCLK2 (ENSG00000170390), CAMK1D (ENSG00000183049)
Protein
Protein identifiers
CaM kinase-like vesicle-associated protein — Q8NCB2 (reviewed: Q8NCB2)
All UniProt accessions (8): A0A140VKD5, B4DM24, B4DSW8, C9J9E2, C9JSB2, E7ETR1, Q8NCB2, F8WDJ4
UniProt curated annotations — full annotation on UniProt →
Function. Does not appear to have detectable kinase activity.
Subunit / interactions. Interacts with calmodulin, in the presence of calcium.
Subcellular location. Cell membrane. Cytoplasmic vesicle membrane.
Domain organisation. The protein kinase domain is predicted to be catalytically inactive.
Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NCB2-1 | 1 | yes |
| Q8NCB2-2 | 2 | |
| Q8NCB2-3 | 3 |
RefSeq proteins (2): NP_001307076, NP_076951* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000719 | Prot_kinase_dom | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
Pfam: PF00069
UniProt features (19 total): sequence variant 6, sequence conflict 3, compositionally biased region 3, modified residue 2, splice variant 2, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NCB2-F1 | 72.88 | 0.48 |
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 (2): 435, 459
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 134 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, LFA1_Q6, GCANCTGNY_MYOD_Q6, USF_C, CAGCTG_AP4_Q5, EFC_Q6, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, MYCMAX_01, HEN1_01, GRE_C, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, OCT1_07, GOBP_SYNAPTIC_SIGNALING, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY
GO Biological Process (4): signal transduction (GO:0007165), modulation of chemical synaptic transmission (GO:0050804), regulation of modification of postsynaptic structure (GO:0099159), protein phosphorylation (GO:0006468)
GO Molecular Function (5): calcium/calmodulin-dependent protein kinase activity (GO:0004683), calmodulin binding (GO:0005516), ATP binding (GO:0005524), protein kinase activity (GO:0004672), kinase activity (GO:0016301)
GO Cellular Component (7): cytoplasm (GO:0005737), plasma membrane (GO:0005886), cytoplasmic vesicle membrane (GO:0030659), synapse (GO:0045202), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| modification of postsynaptic structure | 1 |
| regulation of modification of synaptic structure | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| protein serine/threonine kinase activity | 1 |
| protein binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| catalytic activity, acting on a protein | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| cell junction | 1 |
| synapse | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
2273 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CAMKV | GRIK4 | Q16099 | 451 |
| CAMKV | SYT1 | P21579 | 449 |
| CAMKV | NCDN | Q9UBB6 | 438 |
| CAMKV | KANSL1 | Q7Z3B3 | 434 |
| CAMKV | SLC1A3 | P43003 | 429 |
| CAMKV | LSAMP | Q13449 | 427 |
| CAMKV | CDHR4 | A6H8M9 | 419 |
| CAMKV | GAP43 | P17677 | 418 |
| CAMKV | GORASP2 | Q9H8Y8 | 414 |
| CAMKV | PPP3CC | P48454 | 401 |
| CAMKV | NDUFS4 | O43181 | 395 |
| CAMKV | RAP2A | P10114 | 394 |
| CAMKV | GSTK1 | Q9Y2Q3 | 383 |
| CAMKV | PRR14 | Q9BWN1 | 377 |
| CAMKV | TEPSIN | Q96N21 | 367 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| TMEM182 | LGALS3 | psi-mi:“MI:0914”(association) | 0.560 |
| NUFIP1 | PDE2A | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| RIT1 | MAD2L1BP | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | METTL18 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM114A2 | CAMKV | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSP90AB1 | CAMKV | psi-mi:“MI:0915”(physical association) | 0.400 |
| CAMKV | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| CFTR | CAMKV | psi-mi:“MI:0915”(physical association) | 0.370 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN2A | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SYT5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | CACNB4 | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | DISP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SYT2 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RNPS1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| CD6 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| CD44 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPM6A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| HAX1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (188): CAMKV (Affinity Capture-MS), CAMKV (Affinity Capture-MS), CAMKV (Affinity Capture-MS), CAMKV (Affinity Capture-MS), CAMKV (Affinity Capture-MS), UBTF (Affinity Capture-MS), GPC1 (Affinity Capture-MS), BRD2 (Affinity Capture-MS), AFF4 (Affinity Capture-MS), AFF1 (Affinity Capture-MS), MLLT3 (Affinity Capture-MS), NRXN3 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), CWC22 (Affinity Capture-MS), ACIN1 (Affinity Capture-MS)
ESM2 similar proteins: A3KFM7, A4IFM7, D3ZA12, O48963, O75914, O77708, O88643, P07313, P08413, P08414, P11730, P11799, P13234, P15791, P27466, P29294, P35465, P70402, Q05623, Q08E52, Q13153, Q13177, Q13554, Q13555, Q16566, Q17850, Q28824, Q29502, Q38870, Q3B8Q1, Q3MHJ9, Q3UHL1, Q61036, Q62829, Q63092, Q64303, Q6DGS3, Q6P3Q4, Q6PA14, Q7SY49
Diamond homologs: A8WXF6, A8X6H4, B3NKK1, B4GXC2, B4IMC3, B4IT27, B4NSS9, B5DK35, D2I3C6, O08875, O14408, O15075, O15865, O42844, O49717, O62305, O70150, O77708, P08413, P08414, P11275, P11730, P11798, P11801, P13234, P15791, P25323, P27466, P28582, P28583, P28652, P34101, P93759, Q00168, Q00771, Q0V7M1, Q13554, Q13555, Q13557, Q14012
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Axon guidance | 7 | 8.3× | 4e-03 |
| Nervous system development | 7 | 7.9× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1828 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:49859877:GCCTT:G | acceptor_gain | 1.0000 |
| 3:49859878:CCTT:C | acceptor_loss | 1.0000 |
| 3:49859878:CCTTC:C | acceptor_gain | 1.0000 |
| 3:49859879:CTT:C | acceptor_gain | 1.0000 |
| 3:49859880:TT:T | acceptor_gain | 1.0000 |
| 3:49859880:TTCT:T | acceptor_loss | 1.0000 |
| 3:49859881:TCTGA:T | acceptor_loss | 1.0000 |
| 3:49859882:C:CC | acceptor_gain | 1.0000 |
| 3:49859882:C:G | acceptor_loss | 1.0000 |
| 3:49859883:T:A | acceptor_loss | 1.0000 |
| 3:49859892:CACAG:C | acceptor_gain | 1.0000 |
| 3:49859894:CAG:C | acceptor_gain | 1.0000 |
| 3:49859895:A:T | acceptor_gain | 1.0000 |
| 3:49860165:CCTTA:C | donor_loss | 1.0000 |
| 3:49860166:CTTAC:C | donor_loss | 1.0000 |
| 3:49860167:TTAC:T | donor_loss | 1.0000 |
| 3:49860168:TA:T | donor_loss | 1.0000 |
| 3:49860169:A:C | donor_loss | 1.0000 |
| 3:49860259:C:A | acceptor_loss | 1.0000 |
| 3:49860467:TCACC:T | donor_loss | 1.0000 |
| 3:49860468:CACCA:C | donor_loss | 1.0000 |
| 3:49860469:A:AC | donor_gain | 1.0000 |
| 3:49860469:A:C | donor_loss | 1.0000 |
| 3:49860469:AC:A | donor_gain | 1.0000 |
| 3:49860470:C:CC | donor_gain | 1.0000 |
| 3:49860470:CC:C | donor_gain | 1.0000 |
| 3:49860470:CCA:C | donor_gain | 1.0000 |
| 3:49860470:CCACT:C | donor_gain | 1.0000 |
| 3:49860545:TTTGG:T | acceptor_gain | 1.0000 |
| 3:49860546:TTGG:T | acceptor_gain | 1.0000 |
AlphaMissense
3269 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:49859874:A:T | V317D | 1.000 |
| 3:49859877:G:T | A316D | 1.000 |
| 3:49859878:C:G | A316P | 1.000 |
| 3:49860174:C:A | W313C | 1.000 |
| 3:49860174:C:G | W313C | 1.000 |
| 3:49860175:C:G | W313S | 1.000 |
| 3:49860176:A:G | W313R | 1.000 |
| 3:49860176:A:T | W313R | 1.000 |
| 3:49860258:C:A | W285C | 1.000 |
| 3:49860258:C:G | W285C | 1.000 |
| 3:49860472:A:G | W285R | 1.000 |
| 3:49860472:A:T | W285R | 1.000 |
| 3:49860487:C:G | A280P | 1.000 |
| 3:49860528:A:G | L266P | 1.000 |
| 3:49860537:A:T | V263D | 1.000 |
| 3:49860540:A:G | L262P | 1.000 |
| 3:49860545:T:A | K260N | 1.000 |
| 3:49860545:T:G | K260N | 1.000 |
| 3:49860549:G:T | A259D | 1.000 |
| 3:49860724:G:C | S256W | 1.000 |
| 3:49860735:C:A | W252C | 1.000 |
| 3:49860735:C:G | W252C | 1.000 |
| 3:49860736:C:G | W252S | 1.000 |
| 3:49860737:A:G | W252R | 1.000 |
| 3:49860737:A:T | W252R | 1.000 |
| 3:49860772:A:C | I240S | 1.000 |
| 3:49860780:G:C | F237L | 1.000 |
| 3:49860780:G:T | F237L | 1.000 |
| 3:49860782:A:G | F237L | 1.000 |
| 3:49860831:G:C | F220L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000752391 (3:49870295 TGGGCAGTC>T), RS1000921712 (3:49863152 C>T), RS1001093669 (3:49857716 A>G), RS1001246464 (3:49871640 G>C), RS1001616323 (3:49868935 G>C), RS1001798379 (3:49863975 A>G), RS1002232592 (3:49869386 G>A,C), RS1002266293 (3:49858819 C>G), RS1002498837 (3:49859541 G>A), RS1002525235 (3:49862989 G>A), RS1002619226 (3:49870747 T>A,C), RS1003005846 (3:49870448 G>A), RS1003240734 (3:49867692 G>A), RS1003269910 (3:49868094 A>C), RS1003341242 (3:49868676 T>A,C)
Disease associations
OMIM: gene MIM:614993 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003496_9 | Educational attainment | 4.000000e-14 |
| GCST003795_3 | Age at first birth | 5.000000e-15 |
| GCST004280_89 | Diastolic blood pressure | 5.000000e-09 |
| GCST005316_115 | Intelligence (MTAG) | 6.000000e-12 |
| GCST005316_119 | Intelligence (MTAG) | 6.000000e-29 |
| GCST006044_2 | Age at first birth | 2.000000e-06 |
| GCST006045_5 | Age at first birth | 6.000000e-10 |
| GCST006269_685 | General cognitive ability | 8.000000e-10 |
| GCST006920_7 | Regular attendance at a gym or sports club | 6.000000e-10 |
| GCST006922_9 | Regular attendance at a religious group | 3.000000e-08 |
| GCST007044_11 | Extremely high intelligence | 4.000000e-08 |
| GCST007559_24 | Sleep duration (short sleep) | 3.000000e-08 |
| GCST007565_87 | Morning person | 3.000000e-18 |
| GCST009524_140 | Household income (MTAG) | 1.000000e-31 |
| GCST010002_422 | Refractive error | 4.000000e-14 |
| GCST010698_80 | Subcortical volume (min-P) | 3.000000e-24 |
| GCST010699_110 | Brain morphology (min-P) | 4.000000e-08 |
| GCST010701_52 | Cortical surface area (MOSTest) | 1.000000e-16 |
| GCST010702_36 | Subcortical volume (MOSTest) | 1.000000e-10 |
| GCST010703_262 | Brain morphology (MOSTest) | 2.000000e-13 |
| GCST012332_55 | Multisite chronic pain | 5.000000e-09 |
| GCST90000050_22 | Age at first birth | 6.000000e-33 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004784 | self reported educational attainment |
| EFO:0009101 | age at first birth measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004337 | intelligence |
| EFO:0009592 | social interaction measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0009695 | household income |
| EFO:0004346 | neuroimaging measurement |
| EFO:0010100 | multisite chronic pain |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — CAMK-unique family
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| ethylbenzene | affects cotreatment, decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| pentanal | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Aldehydes | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Diethylnitrosamine | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Toluene | affects cotreatment, decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Xylenes | affects cotreatment, decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SG72 | HAP1 CAMKV (-) 1 | Cancer cell line | Male |
| CVCL_SG73 | HAP1 CAMKV (-) 2 | Cancer cell line | Male |
| CVCL_SG74 | HAP1 CAMKV (-) 3 | 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.