CAMKV

gene
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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

FieldValue
HGNC IDHGNC:28788
Approved symbolCAMKV
NameCaM kinase like vesicle associated
Location3p21.31
Locus typegene with protein product
StatusApproved
AliasesMGC8407, VACAMKL
Ensembl geneENSG00000164076
Ensembl biotypeprotein_coding
OMIM614993
Entrez79012

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

ExonStartEnd
ENSE000012781534985798949859881
ENSE000020252854986975849869906
ENSE000034625704986229449862402
ENSE000034751574986179149861865
ENSE000035045794986094349861018
ENSE000035318504986143949861577
ENSE000035372364986047149860549
ENSE000035819034986118049861300
ENSE000036236954986204549862176
ENSE000036694744986071649860852
ENSE000036930334986017149860258

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 IDTPM avgSamples expressed
4228312.4536335

Top tissues by expression

263 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534399.39gold quality
nucleus accumbensUBERON:000188297.51gold quality
prefrontal cortexUBERON:000045196.89gold quality
right frontal lobeUBERON:000281096.38gold quality
caudate nucleusUBERON:000187396.30gold quality
putamenUBERON:000187495.92gold quality
anterior cingulate cortexUBERON:000983595.79gold quality
cingulate cortexUBERON:000302795.76gold quality
Brodmann (1909) area 9UBERON:001354095.62gold quality
dorsolateral prefrontal cortexUBERON:000983495.51gold quality
frontal cortexUBERON:000187095.23gold quality
neocortexUBERON:000195094.82gold quality
cerebral cortexUBERON:000095693.95gold quality
telencephalonUBERON:000189393.69gold quality
amygdalaUBERON:000187693.58gold quality
ganglionic eminenceUBERON:000402393.36gold quality
Ammon’s hornUBERON:000195492.49gold quality
forebrainUBERON:000189092.08gold quality
orbitofrontal cortexUBERON:000416791.88gold quality
temporal lobeUBERON:000187191.53gold quality
Brodmann (1909) area 46UBERON:000648391.20gold quality
superior frontal gyrusUBERON:000266190.38gold quality
hypothalamusUBERON:000189890.01gold quality
CA1 field of hippocampusUBERON:000388189.49gold quality
entorhinal cortexUBERON:000272889.19gold quality
middle temporal gyrusUBERON:000277188.21gold quality
brainUBERON:000095588.15gold quality
postcentral gyrusUBERON:000258188.08gold quality
primary visual cortexUBERON:000243687.05gold quality
parietal lobeUBERON:000187286.82gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-HCAD-5yes63.23
E-GEOD-93593yes7.10
E-ANND-3no0.81

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-8485100.0077.574731
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-4533100.0069.482758
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-329-3P99.9166.561234
HSA-MIR-362-3P99.9166.381267
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-449299.8768.253611
HSA-MIR-394199.8670.542735
HSA-MIR-444799.8567.812900
HSA-MIR-544A99.8468.661965
HSA-MIR-548AJ-5P99.7871.123085
HSA-MIR-548F-5P99.7871.023093
HSA-MIR-548G-5P99.7871.123085
HSA-MIR-548X-5P99.7871.123085
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-4755-5P99.7170.342716
HSA-MIR-5006-3P99.7170.262728
HSA-MIR-6762-3P99.6666.941188
HSA-MIR-10394-5P99.6566.831852
HSA-MIR-120599.6566.761826
HSA-MIR-613299.6065.831554

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriocamkvbENSDARG00000005141
danio_reriocamkvaENSDARG00000027963
mus_musculusCamkvENSMUSG00000032936
rattus_norvegicusCamkvENSRNOG00000058938

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 proteinQ8NCB2 (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 IDNamesCanonical?
Q8NCB2-11yes
Q8NCB2-22
Q8NCB2-33

RefSeq proteins (2): NP_001307076, NP_076951* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000719Prot_kinase_domDomain
IPR011009Kinase-like_dom_sfHomologous_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)

ModelpLDDTFraction very-high
AF-Q8NCB2-F172.880.48

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:

CategoryTerms
cellular anatomical structure2
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
chemical synaptic transmission1
regulation of trans-synaptic signaling1
modification of postsynaptic structure1
regulation of modification of synaptic structure1
phosphorylation1
protein modification process1
protein serine/threonine kinase activity1
protein binding1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
kinase activity1
phosphotransferase activity, alcohol group as acceptor1
catalytic activity, acting on a protein1
transferase activity, transferring phosphorus-containing groups1
intracellular anatomical structure1
membrane1
cell periphery1
vesicle membrane1
cytoplasmic vesicle1
cell junction1
synapse1
cytoplasm1
intracellular vesicle1

Protein interactions and networks

STRING

2273 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CAMKVGRIK4Q16099451
CAMKVSYT1P21579449
CAMKVNCDNQ9UBB6438
CAMKVKANSL1Q7Z3B3434
CAMKVSLC1A3P43003429
CAMKVLSAMPQ13449427
CAMKVCDHR4A6H8M9419
CAMKVGAP43P17677418
CAMKVGORASP2Q9H8Y8414
CAMKVPPP3CCP48454401
CAMKVNDUFS4O43181395
CAMKVRAP2AP10114394
CAMKVGSTK1Q9Y2Q3383
CAMKVPRR14Q9BWN1377
CAMKVTEPSINQ96N21367

IntAct

42 interactions, top by confidence:

ABTypeScore
CAMKVAP3B1psi-mi:“MI:0914”(association)0.640
SDC2PDPK1psi-mi:“MI:0914”(association)0.640
TMEM182LGALS3psi-mi:“MI:0914”(association)0.560
NUFIP1PDE2Apsi-mi:“MI:0914”(association)0.530
PRICKLE3SIAH2psi-mi:“MI:0914”(association)0.530
RIT1MAD2L1BPpsi-mi:“MI:0914”(association)0.530
PRICKLE3METTL18psi-mi:“MI:0914”(association)0.530
FAM114A2CAMKVpsi-mi:“MI:0915”(physical association)0.400
HSP90AB1CAMKVpsi-mi:“MI:0915”(physical association)0.400
CAMKVCFTRpsi-mi:“MI:0915”(physical association)0.370
CFTRCAMKVpsi-mi:“MI:0915”(physical association)0.370
COPS5FBLL1psi-mi:“MI:0914”(association)0.350
MAPTSHTN1psi-mi:“MI:0914”(association)0.350
SCN2AIGLL5psi-mi:“MI:0914”(association)0.350
CACNA1CSYT5psi-mi:“MI:0914”(association)0.350
CACNA1CIGLL5psi-mi:“MI:0914”(association)0.350
CACNA1CCACNB4psi-mi:“MI:0914”(association)0.350
RIMS1PSMD12psi-mi:“MI:0914”(association)0.350
CACNA1CDISP2psi-mi:“MI:0914”(association)0.350
SYT2ARHGAP10psi-mi:“MI:0914”(association)0.350
RNPS1C1orf226psi-mi:“MI:0914”(association)0.350
CD6CIBAR1psi-mi:“MI:0914”(association)0.350
CD44TCAF2psi-mi:“MI:0914”(association)0.350
GPM6AKIF2Apsi-mi:“MI:0914”(association)0.350
HAX1DNM1Lpsi-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:

PathwayPartnersFoldFDR
Axon guidance78.3×4e-03
Nervous system development77.9×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance28
Likely benign3
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1828 predictions. Top by Δscore:

VariantEffectΔscore
3:49859877:GCCTT:Gacceptor_gain1.0000
3:49859878:CCTT:Cacceptor_loss1.0000
3:49859878:CCTTC:Cacceptor_gain1.0000
3:49859879:CTT:Cacceptor_gain1.0000
3:49859880:TT:Tacceptor_gain1.0000
3:49859880:TTCT:Tacceptor_loss1.0000
3:49859881:TCTGA:Tacceptor_loss1.0000
3:49859882:C:CCacceptor_gain1.0000
3:49859882:C:Gacceptor_loss1.0000
3:49859883:T:Aacceptor_loss1.0000
3:49859892:CACAG:Cacceptor_gain1.0000
3:49859894:CAG:Cacceptor_gain1.0000
3:49859895:A:Tacceptor_gain1.0000
3:49860165:CCTTA:Cdonor_loss1.0000
3:49860166:CTTAC:Cdonor_loss1.0000
3:49860167:TTAC:Tdonor_loss1.0000
3:49860168:TA:Tdonor_loss1.0000
3:49860169:A:Cdonor_loss1.0000
3:49860259:C:Aacceptor_loss1.0000
3:49860467:TCACC:Tdonor_loss1.0000
3:49860468:CACCA:Cdonor_loss1.0000
3:49860469:A:ACdonor_gain1.0000
3:49860469:A:Cdonor_loss1.0000
3:49860469:AC:Adonor_gain1.0000
3:49860470:C:CCdonor_gain1.0000
3:49860470:CC:Cdonor_gain1.0000
3:49860470:CCA:Cdonor_gain1.0000
3:49860470:CCACT:Cdonor_gain1.0000
3:49860545:TTTGG:Tacceptor_gain1.0000
3:49860546:TTGG:Tacceptor_gain1.0000

AlphaMissense

3269 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:49859874:A:TV317D1.000
3:49859877:G:TA316D1.000
3:49859878:C:GA316P1.000
3:49860174:C:AW313C1.000
3:49860174:C:GW313C1.000
3:49860175:C:GW313S1.000
3:49860176:A:GW313R1.000
3:49860176:A:TW313R1.000
3:49860258:C:AW285C1.000
3:49860258:C:GW285C1.000
3:49860472:A:GW285R1.000
3:49860472:A:TW285R1.000
3:49860487:C:GA280P1.000
3:49860528:A:GL266P1.000
3:49860537:A:TV263D1.000
3:49860540:A:GL262P1.000
3:49860545:T:AK260N1.000
3:49860545:T:GK260N1.000
3:49860549:G:TA259D1.000
3:49860724:G:CS256W1.000
3:49860735:C:AW252C1.000
3:49860735:C:GW252C1.000
3:49860736:C:GW252S1.000
3:49860737:A:GW252R1.000
3:49860737:A:TW252R1.000
3:49860772:A:CI240S1.000
3:49860780:G:CF237L1.000
3:49860780:G:TF237L1.000
3:49860782:A:GF237L1.000
3:49860831:G:CF220L1.000

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):

StudyTraitp-value
GCST003496_9Educational attainment4.000000e-14
GCST003795_3Age at first birth5.000000e-15
GCST004280_89Diastolic blood pressure5.000000e-09
GCST005316_115Intelligence (MTAG)6.000000e-12
GCST005316_119Intelligence (MTAG)6.000000e-29
GCST006044_2Age at first birth2.000000e-06
GCST006045_5Age at first birth6.000000e-10
GCST006269_685General cognitive ability8.000000e-10
GCST006920_7Regular attendance at a gym or sports club6.000000e-10
GCST006922_9Regular attendance at a religious group3.000000e-08
GCST007044_11Extremely high intelligence4.000000e-08
GCST007559_24Sleep duration (short sleep)3.000000e-08
GCST007565_87Morning person3.000000e-18
GCST009524_140Household income (MTAG)1.000000e-31
GCST010002_422Refractive error4.000000e-14
GCST010698_80Subcortical volume (min-P)3.000000e-24
GCST010699_110Brain morphology (min-P)4.000000e-08
GCST010701_52Cortical surface area (MOSTest)1.000000e-16
GCST010702_36Subcortical volume (MOSTest)1.000000e-10
GCST010703_262Brain morphology (MOSTest)2.000000e-13
GCST012332_55Multisite chronic pain5.000000e-09
GCST90000050_22Age at first birth6.000000e-33

EFO canonical traits (9, from GWAS)

EFO IDTrait name
EFO:0004784self reported educational attainment
EFO:0009101age at first birth measurement
EFO:0006336diastolic blood pressure
EFO:0004337intelligence
EFO:0009592social interaction measurement
EFO:0008328chronotype measurement
EFO:0009695household income
EFO:0004346neuroimaging measurement
EFO:0010100multisite 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.

ChemicalActions (top 5)PubMed papers
Phenylmercuric Acetateaffects cotreatment, decreases expression2
ethylbenzeneaffects cotreatment, decreases expression1
propionaldehydeincreases expression1
beta-lapachoneincreases expression1
sodium arsenitedecreases expression1
butyraldehydeincreases expression1
benzo(e)pyreneincreases methylation1
pentanalincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Aldehydesincreases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Cadmiumdecreases expression, increases abundance1
Carbamazepineaffects expression1
Diethylhexyl Phthalatedecreases expression1
Diethylnitrosamineincreases expression1
Estradiolincreases expression1
Ivermectindecreases expression1
Methapyrileneincreases methylation1
Tobacco Smoke Pollutionincreases expression1
Tolueneaffects cotreatment, decreases expression1
Tretinoindecreases expression1
Valproic Acidincreases methylation1
Xylenesaffects cotreatment, decreases expression1
Aflatoxin B1increases methylation1
Cadmium Chloridedecreases expression, increases abundance1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_SG72HAP1 CAMKV (-) 1Cancer cell lineMale
CVCL_SG73HAP1 CAMKV (-) 2Cancer cell lineMale
CVCL_SG74HAP1 CAMKV (-) 3Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

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