CAMK2A (calcium/calmodulin dependent protein kinase II alpha) - Rat Genome Database

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Gene: CAMK2A (calcium/calmodulin dependent protein kinase II alpha) Homo sapiens
Analyze
Symbol: CAMK2A
Name: calcium/calmodulin dependent protein kinase II alpha
RGD ID: 736752
HGNC Page HGNC:1460
Description: Enables calcium/calmodulin-dependent protein kinase activity; calmodulin binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to cytokine stimulus; peptidyl-threonine autophosphorylation; and positive regulation of NF-kappaB transcription factor activity. Located in dendritic spine. Part of calcium- and calmodulin-dependent protein kinase complex. Implicated in autosomal dominant intellectual developmental disorder 53 and autosomal recessive intellectual developmental disorder 63. Biomarker of Alzheimer's disease and high grade glioma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha; calcium/calmodulin-dependent protein kinase II alpha; calcium/calmodulin-dependent protein kinase II alpha-B subunit; calcium/calmodulin-dependent protein kinase type II alpha chain; calcium/calmodulin-dependent protein kinase type II subunit alpha; CaM kinase II alpha subunit; caM kinase II subunit alpha; CaM-kinase II alpha chain; CaMK-II alpha subunit; caMK-II subunit alpha; CAMKA; CaMKIIalpha; CaMKIINalpha; KIAA0968; MRD53; MRT63
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,219,491 - 150,290,130 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,219,491 - 150,290,093 (-)EnsemblGRCh38hg38GRCh38
GRCh375149,599,054 - 149,669,693 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,579,248 - 149,649,529 (-)NCBINCBI36Build 36hg18NCBI36
Build 345149,579,247 - 149,649,529NCBI
Celera5145,680,447 - 145,750,799 (-)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5144,747,170 - 144,817,356 (-)NCBIHuRef
CHM1_15149,031,647 - 149,101,993 (-)NCBICHM1_1
T2T-CHM13v2.05150,756,093 - 150,826,669 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7-chlorokynurenic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
azamethiphos  (ISO)
Bay-K-8644  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (EXP)
cantharidin  (ISO)
capsaicin  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clozapine  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (ISO)
cyfluthrin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (ISO)
dieldrin  (ISO)
diethyl malate  (ISO)
diethylstilbestrol  (ISO)
dizocilpine maleate  (ISO)
dopamine  (ISO)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
flurotyl  (ISO)
FPL 64176  (ISO)
Glutathione ethyl ester  (ISO)
glyphosate  (EXP)
haloperidol  (ISO)
heptachlor  (ISO)
ibuprofen  (ISO)
ionomycin  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
KN-93  (EXP,ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lipoic acid  (ISO)
losartan  (ISO)
malathion  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
memantine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol  (ISO)
N-nitrosodiethylamine  (ISO)
nicardipine  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nifedipine  (ISO)
ochratoxin A  (ISO)
olanzapine  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phencyclidine  (ISO)
phenylephrine  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
platycodin D  (EXP)
quercetin  (ISO)
resveratrol  (ISO)
risperidone  (ISO)
rotenone  (ISO)
S-allylcysteine  (EXP)
sarin  (ISO)
SCH 23390  (ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium benzoate  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulfur dioxide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
trifluoperazine  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
U-73122  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
verapamil  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Absent speech  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blue nevus  (IAGP)
Brachycephaly  (IAGP)
Cryptorchidism  (IAGP)
Delayed ability to walk  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duodenal atresia  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Frontal upsweep of hair  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hydronephrosis  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Interictal epileptiform activity  (IAGP)
Intestinal malrotation  (IAGP)
Involuntary movements  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Myoclonic seizure  (IAGP)
Overgrowth  (IAGP)
Posterior plagiocephaly  (IAGP)
Short femur  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thick corpus callosum  (IAGP)
Unsteady gait  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Localization of CaMKIIalpha in rat primary sensory neurons: increase in inflammation. Carlton SM Brain Res. 2002 Aug 30;947(2):252-9.
2. CaMKII regulation in information processing and storage. Coultrap SJ and Bayer KU, Trends Neurosci. 2012 Oct;35(10):607-18. doi: 10.1016/j.tins.2012.05.003. Epub 2012 Jun 19.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Secondary hyperalgesia in the postoperative pain model is dependent on spinal calcium/calmodulin-dependent protein kinase II alpha activation. Jones TL, etal., Anesth Analg. 2007 Dec;105(6):1650-6, table of contents.
5. Mechanisms of CaMKII action in long-term potentiation. Lisman J, etal., Nat Rev Neurosci. 2012 Feb 15;13(3):169-82. doi: 10.1038/nrn3192.
6. Protein kinase C-gamma and calcium/calmodulin-dependent protein kinase II-alpha are persistently translocated to cell membranes of the rat brain during and after middle cerebral artery occlusion. Matsumoto S, etal., J Cereb Blood Flow Metab 2004 Jan;24(1):54-61.
7. Phosphorylation state, solubility, and activity of calcium/calmodulin-dependent protein kinase II alpha in transient focal ischemia in mouse brain. Mengesdorf T, etal., Neurochem Res. 2002 Jun;27(6):477-84.
8. Vitamin D and calcium co-therapy mitigates pre-established cadmium nephropathy by regulating renal calcium homeostatic molecules and improving anti-oxidative and anti-inflammatory activities in rat. Obaid AA, etal., J Trace Elem Med Biol. 2023 May 24;79:127221. doi: 10.1016/j.jtemb.2023.127221.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Cerebral ischemia immediately increases serine phosphorylation of the synaptic RAS-GTPase activating protein SynGAP by calcium/calmodulin-dependent protein kinase II alpha in hippocampus of rats. Song B, etal., Neurosci Lett. 2003 Oct 9;349(3):183-6.
14. Trichostatin A protects against cisplatin-induced ototoxicity by regulating expression of genes related to apoptosis and synaptic function. Wang P, etal., Neurotoxicology. 2013 Jul;37:51-62. doi: 10.1016/j.neuro.2013.03.007. Epub 2013 Apr 1.
15. The expression of calcium/calmodulin-dependent protein kinase II-alpha in the hippocampus of patients with Alzheimer's disease and its links with AD-related pathology. Wang YJ, etal., Brain Res. 2005 Jan 7;1031(1):101-8. doi: 10.1016/j.brainres.2004.10.061.
16. A 63 signature genes prediction system is effective for glioblastoma prognosis. Zhang Y, etal., Int J Mol Med. 2018 Apr;41(4):2070-2078. doi: 10.3892/ijmm.2018.3422. Epub 2018 Jan 25.
Additional References at PubMed
PMID:1309762   PMID:1314426   PMID:1374067   PMID:1375933   PMID:1650365   PMID:2114109   PMID:2155236   PMID:2164678   PMID:2394752   PMID:3475713   PMID:7523419   PMID:7706316  
PMID:7822264   PMID:7929371   PMID:8413226   PMID:8615909   PMID:8663317   PMID:8665664   PMID:8940188   PMID:8980240   PMID:8999860   PMID:9099667   PMID:9115241   PMID:9452387  
PMID:9452388   PMID:9481670   PMID:9694809   PMID:9724800   PMID:9735171   PMID:9771888   PMID:9813144   PMID:9832145   PMID:10090741   PMID:10231032   PMID:10318869   PMID:10347170  
PMID:10373510   PMID:10400690   PMID:10629061   PMID:10737616   PMID:10737800   PMID:10753652   PMID:10851169   PMID:10861222   PMID:10862698   PMID:10874031   PMID:11013247   PMID:11027280  
PMID:11104776   PMID:11160423   PMID:11222640   PMID:11264466   PMID:11278737   PMID:11306676   PMID:11331285   PMID:11397791   PMID:11447121   PMID:11459059   PMID:11468283   PMID:11559703  
PMID:11679592   PMID:11710563   PMID:11751951   PMID:11814622   PMID:11867691   PMID:11889801   PMID:11930170   PMID:11972023   PMID:12147342   PMID:12223541   PMID:12387894   PMID:12408851  
PMID:12435421   PMID:12475968   PMID:12477932   PMID:12486117   PMID:12619878   PMID:12630910   PMID:12815021   PMID:12871946   PMID:12933808   PMID:12954639   PMID:14622581   PMID:14684825  
PMID:14702098   PMID:14722083   PMID:14970204   PMID:15044063   PMID:15140879   PMID:15312654   PMID:15358237   PMID:15673434   PMID:15757646   PMID:15866054   PMID:16027165   PMID:16115892  
PMID:16120608   PMID:16247765   PMID:16257975   PMID:16436603   PMID:16557530   PMID:16565089   PMID:16820363   PMID:17045592   PMID:17052756   PMID:17202341   PMID:17221287   PMID:17353931  
PMID:17512525   PMID:17568776   PMID:17603807   PMID:17627985   PMID:17632540   PMID:18218981   PMID:18227124   PMID:18292392   PMID:18311135   PMID:18803808   PMID:19086921   PMID:19156168  
PMID:19213956   PMID:19328558   PMID:19453375   PMID:19638347   PMID:20053885   PMID:20178748   PMID:20379614   PMID:20584908   PMID:20668654   PMID:21124984   PMID:21315782   PMID:21610080  
PMID:21611732   PMID:21630459   PMID:21653829   PMID:21768120   PMID:21873635   PMID:21884935   PMID:22023388   PMID:22360420   PMID:22427672   PMID:22496345   PMID:22496558   PMID:22505582  
PMID:22514303   PMID:22573680   PMID:22815963   PMID:22824813   PMID:22939624   PMID:22939629   PMID:23028764   PMID:23251661   PMID:23260144   PMID:23402759   PMID:23459588   PMID:23695276  
PMID:24384746   PMID:24407174   PMID:24463508   PMID:24614225   PMID:24706758   PMID:24781523   PMID:24855644   PMID:25241761   PMID:25290264   PMID:25815641   PMID:25852190   PMID:26186194  
PMID:26344197   PMID:26485645   PMID:26539091   PMID:26598607   PMID:26984442   PMID:27173435   PMID:27245989   PMID:28130356   PMID:28319085   PMID:28449373   PMID:28514442   PMID:28970726  
PMID:29100089   PMID:29279319   PMID:29426014   PMID:29449217   PMID:29560374   PMID:29737974   PMID:29784083   PMID:29791485   PMID:30260900   PMID:31391242   PMID:31750928   PMID:31980649  
PMID:32149607   PMID:32235678   PMID:32296183   PMID:32418901   PMID:32483123   PMID:32580140   PMID:32611770   PMID:32685443   PMID:32707033   PMID:32812023   PMID:32814053   PMID:33707504  
PMID:33961781   PMID:34349018   PMID:34607601   PMID:34667946   PMID:34728029   PMID:35013218   PMID:35143101   PMID:35568036   PMID:35654790   PMID:35914814   PMID:36215168   PMID:36634849  
PMID:36931259   PMID:36998269   PMID:38015546   PMID:38334954   PMID:38936066   PMID:39256359  


Genomics

Comparative Map Data
CAMK2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,219,491 - 150,290,130 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,219,491 - 150,290,093 (-)EnsemblGRCh38hg38GRCh38
GRCh375149,599,054 - 149,669,693 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,579,248 - 149,649,529 (-)NCBINCBI36Build 36hg18NCBI36
Build 345149,579,247 - 149,649,529NCBI
Celera5145,680,447 - 145,750,799 (-)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5144,747,170 - 144,817,356 (-)NCBIHuRef
CHM1_15149,031,647 - 149,101,993 (-)NCBICHM1_1
T2T-CHM13v2.05150,756,093 - 150,826,669 (-)NCBIT2T-CHM13v2.0
Camk2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391861,058,704 - 61,121,224 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1861,058,690 - 61,121,224 (+)EnsemblGRCm39 Ensembl
GRCm381860,925,307 - 60,988,152 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1860,925,618 - 60,988,152 (+)EnsemblGRCm38mm10GRCm38
MGSCv371861,085,286 - 61,147,806 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361861,051,001 - 61,113,513 (+)NCBIMGSCv36mm8
Celera1862,212,530 - 62,274,768 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1834.41NCBI
Camk2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81856,648,779 - 56,711,505 (+)NCBIGRCr8
mRatBN7.21854,378,642 - 54,441,120 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1854,378,784 - 54,438,994 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1856,467,554 - 56,526,074 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01857,182,163 - 57,240,684 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01855,002,670 - 55,061,881 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01856,193,978 - 56,295,869 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1856,193,978 - 56,295,869 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01855,428,487 - 55,463,016 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01855,514,559 - 55,529,045 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41856,879,247 - 56,948,537 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11856,951,478 - 57,020,769 (+)NCBI
Celera1852,533,226 - 52,592,130 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Camk2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554154,247,014 - 4,307,458 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554154,247,307 - 4,307,402 (+)NCBIChiLan1.0ChiLan1.0
CAMK2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24145,448,477 - 145,518,496 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15143,588,026 - 143,658,043 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05145,644,164 - 145,714,143 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15151,649,062 - 151,719,373 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5151,649,062 - 151,719,373 (-)Ensemblpanpan1.1panPan2
CAMK2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1458,800,818 - 58,865,830 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl458,800,813 - 58,865,830 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha458,567,052 - 58,631,982 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0459,281,664 - 59,346,612 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl459,281,703 - 59,346,615 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1459,070,398 - 59,135,346 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0459,184,686 - 59,249,804 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0459,715,947 - 59,780,872 (+)NCBIUU_Cfam_GSD_1.0
Camk2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213143,064,159 - 143,126,577 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365044,638,176 - 4,700,984 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365044,636,863 - 4,700,887 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAMK2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2151,248,358 - 151,308,706 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12151,248,356 - 151,353,907 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22158,335,771 - 158,396,987 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CAMK2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12352,829,438 - 52,899,428 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2352,829,350 - 52,899,375 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603424,817,181 - 24,887,318 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Camk2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247749,526,323 - 9,585,649 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247749,526,323 - 9,585,647 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAMK2A
128 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) single nucleotide variant Intellectual disability [RCV000577925]|Intellectual disability, autosomal dominant 53 [RCV000516152] Chr5:150250270 [GRCh38]
Chr5:149629833 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1237+1G>A single nucleotide variant Intellectual disability [RCV000577893] Chr5:150228191 [GRCh38]
Chr5:149607754 [GRCh37]
Chr5:5q32		 pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_015981.3(CAMK2A):c.1237+2044A>G single nucleotide variant Lung cancer [RCV000095383] Chr5:150226148 [GRCh38]
Chr5:149605711 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001507313] Chr5:150252056 [GRCh38]
Chr5:149631619 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu) single nucleotide variant Intellectual disability [RCV000577918]|Intellectual disability, autosomal dominant 53 [RCV002470885]|not provided [RCV001558478] Chr5:150251808 [GRCh38]
Chr5:149631371 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1406G>A (p.Arg469Gln) single nucleotide variant not provided [RCV003221528] Chr5:150223049 [GRCh38]
Chr5:149602612 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1467-87A>T single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001554804]|Intellectual disability, autosomal recessive 63 [RCV001554803] Chr5:150222800 [GRCh38]
Chr5:149602363 [GRCh37]
Chr5:5q32		 benign
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) single nucleotide variant Intellectual disability [RCV000577881]|Intellectual disability, autosomal dominant 53 [RCV000678212]|not specified [RCV000202726] Chr5:150250800 [GRCh38]
Chr5:149630363 [GRCh37]
Chr5:5q32		 pathogenic|likely pathogenic|uncertain significance
NM_015981.4(CAMK2A):c.817-1G>A single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV000678213] Chr5:150250310 [GRCh38]
Chr5:149629873 [GRCh37]
Chr5:5q32		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) single nucleotide variant Intellectual disability [RCV000577915]|Intellectual disability, autosomal dominant 53 [RCV000516151] Chr5:150256777 [GRCh38]
Chr5:149636340 [GRCh37]
Chr5:5q32		 pathogenic|likely pathogenic
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser) single nucleotide variant Intellectual disability [RCV000577897]|Intellectual disability, autosomal dominant 53 [RCV000516156] Chr5:150256811 [GRCh38]
Chr5:149636374 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1235A>C (p.Asn412Thr) single nucleotide variant Inborn genetic diseases [RCV003266554] Chr5:150228194 [GRCh38]
Chr5:149607757 [GRCh37]
Chr5:5q32		 likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) single nucleotide variant Intellectual disability [RCV000577902]|Intellectual disability, autosomal dominant 53 [RCV000516155] Chr5:150250281 [GRCh38]
Chr5:149629844 [GRCh37]
Chr5:5q32		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_171825.2(CAMK2A):c.65del deletion Intellectual disability [RCV000577878] Chr5:150273157 [GRCh38]
Chr5:149652720 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.598+2dup duplication Intellectual disability [RCV000577905] Chr5:150251979..150251980 [GRCh38]
Chr5:149631542..149631543 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) single nucleotide variant Intellectual disability [RCV000577883]|Intellectual disability, autosomal dominant 53 [RCV000516153] Chr5:150252032 [GRCh38]
Chr5:149631595 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr) single nucleotide variant Intellectual disability, autosomal recessive 63 [RCV000678210] Chr5:150223026 [GRCh38]
Chr5:149602589 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.635C>A (p.Pro212Gln) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV000678211] Chr5:150251808 [GRCh38]
Chr5:149631371 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1238-4C>A single nucleotide variant Intellectual disability [RCV001251932] Chr5:150223221 [GRCh38]
Chr5:149602784 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001251933] Chr5:150256775 [GRCh38]
Chr5:149636338 [GRCh37]
Chr5:5q32		 pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_015981.4(CAMK2A):c.701C>G (p.Ser234Trp) single nucleotide variant not provided [RCV001572586] Chr5:150250803 [GRCh38]
Chr5:149630366 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1305C>T (p.Asp435=) single nucleotide variant not provided [RCV000977837] Chr5:150223150 [GRCh38]
Chr5:149602713 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.1238-44G>A single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001554808]|Intellectual disability, autosomal recessive 63 [RCV001554807] Chr5:150223261 [GRCh38]
Chr5:149602824 [GRCh37]
Chr5:5q32		 benign
NM_015981.4(CAMK2A):c.809G>A (p.Trp270Ter) single nucleotide variant not provided [RCV000760641] Chr5:150250695 [GRCh38]
Chr5:149630258 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.158-19A>C single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001554810]|Intellectual disability, autosomal recessive 63 [RCV001554809] Chr5:150265034 [GRCh38]
Chr5:149644597 [GRCh37]
Chr5:5q32		 benign
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001706924] Chr5:150289567 [GRCh38]
Chr5:149669130 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.901-7C>T single nucleotide variant not provided [RCV003312635] Chr5:150247821 [GRCh38]
Chr5:149627384 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_015981.4(CAMK2A):c.1302C>T (p.Gly434=) single nucleotide variant not provided [RCV001090379] Chr5:150223153 [GRCh38]
Chr5:149602716 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.902G>A (p.Gly301Glu) single nucleotide variant not provided [RCV001090380] Chr5:150247813 [GRCh38]
Chr5:149627376 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys) single nucleotide variant Global developmental delay [RCV001255385]|Intellectual disability, autosomal dominant 53 [RCV000824996] Chr5:150289577 [GRCh38]
Chr5:149669140 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.1204G>A (p.Gly402Ser) single nucleotide variant not provided [RCV004776603] Chr5:150228225 [GRCh38]
Chr5:149607788 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.312G>A (p.Arg104=) single nucleotide variant not provided [RCV000910435] Chr5:150256792 [GRCh38]
Chr5:149636355 [GRCh37]
Chr5:5q32		 benign
NM_015981.4(CAMK2A):c.502C>T (p.Gln168Ter) single nucleotide variant not provided [RCV001200176] Chr5:150253456 [GRCh38]
Chr5:149633019 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001554806]|Intellectual disability, autosomal recessive 63 [RCV001554805]|not provided [RCV001713136] Chr5:150223045 [GRCh38]
Chr5:149602608 [GRCh37]
Chr5:5q32		 benign
NM_015981.4(CAMK2A):c.997A>C (p.Ser333Arg) single nucleotide variant not provided [RCV002469544] Chr5:150239724 [GRCh38]
Chr5:149619287 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.599-6T>C single nucleotide variant not provided [RCV001654990] Chr5:150251850 [GRCh38]
Chr5:149631413 [GRCh37]
Chr5:5q32		 benign
NM_015981.4(CAMK2A):c.1467-4A>G single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001554802]|Intellectual disability, autosomal recessive 63 [RCV001554801] Chr5:150222717 [GRCh38]
Chr5:149602280 [GRCh37]
Chr5:5q32		 benign
NM_015981.4(CAMK2A):c.1363C>A (p.Pro455Thr) single nucleotide variant Inborn genetic diseases [RCV001266835] Chr5:150223092 [GRCh38]
Chr5:149602655 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001270422]|not provided [RCV001575296] Chr5:150257615 [GRCh38]
Chr5:149637178 [GRCh37]
Chr5:5q32		 pathogenic|likely pathogenic|uncertain significance
NM_015981.4(CAMK2A):c.1320C>T (p.Ile440=) single nucleotide variant CAMK2A-related disorder [RCV003938616]|not provided [RCV001310531] Chr5:150223135 [GRCh38]
Chr5:149602698 [GRCh37]
Chr5:5q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015981.4(CAMK2A):c.1306G>A (p.Glu436Lys) single nucleotide variant not provided [RCV001310532] Chr5:150223149 [GRCh38]
Chr5:149602712 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.918G>A (p.Thr306=) single nucleotide variant not provided [RCV001310533] Chr5:150247797 [GRCh38]
Chr5:149627360 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.450C>G (p.Ala150=) single nucleotide variant not provided [RCV001532048] Chr5:150253508 [GRCh38]
Chr5:149633071 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.1191G>A (p.Gly397=) single nucleotide variant not provided [RCV001727336] Chr5:150228238 [GRCh38]
Chr5:149607801 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.13A>C (p.Thr5Pro) single nucleotide variant not provided [RCV001758888] Chr5:150289613 [GRCh38]
Chr5:149669176 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) single nucleotide variant Autism spectrum disorder [RCV003125908]|Intellectual disability, autosomal recessive 63 [RCV003225751]|not provided [RCV001787599] Chr5:150250688 [GRCh38]
Chr5:149630251 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.107G>A (p.Gly36Asp) single nucleotide variant not provided [RCV001753260] Chr5:150273115 [GRCh38]
Chr5:149652678 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.264C>T (p.Ile88=) single nucleotide variant CAMK2A-related disorder [RCV003941144]|not provided [RCV001816411] Chr5:150257571 [GRCh38]
Chr5:149637134 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.157+5G>T single nucleotide variant not provided [RCV001776933] Chr5:150273060 [GRCh38]
Chr5:149652623 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.308C>T (p.Ala103Val) single nucleotide variant not provided [RCV001757767] Chr5:150256796 [GRCh38]
Chr5:149636359 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1379C>T (p.Ser460Leu) single nucleotide variant Inborn genetic diseases [RCV002541519]|not provided [RCV001815947] Chr5:150223076 [GRCh38]
Chr5:149602639 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.976G>A (p.Gly326Ser) single nucleotide variant not provided [RCV001837689] Chr5:150245169 [GRCh38]
Chr5:149624732 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.270C>T (p.Asp90=) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV001839226] Chr5:150257565 [GRCh38]
Chr5:149637128 [GRCh37]
Chr5:5q32		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_015981.4(CAMK2A):c.1029G>C (p.Glu343Asp) single nucleotide variant not provided [RCV001943590] Chr5:150238737 [GRCh38]
Chr5:149618300 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1426G>T (p.Val476Phe) single nucleotide variant not provided [RCV001881072] Chr5:150223029 [GRCh38]
Chr5:149602592 [GRCh37]
Chr5:5q32		 uncertain significance
NC_000005.9:g.(?_147774340)_(149681936_?)del deletion not provided [RCV003116332] Chr5:147774340..149681936 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1442C>G (p.Ser481Cys) single nucleotide variant not provided [RCV003120451] Chr5:150223013 [GRCh38]
Chr5:149602576 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.635dup (p.Phe213fs) duplication not provided [RCV004777508] Chr5:150251807..150251808 [GRCh38]
Chr5:149631370..149631371 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1142+13G>A single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV004785182] Chr5:150231292 [GRCh38]
Chr5:149610855 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV003149128] Chr5:150253543 [GRCh38]
Chr5:149633106 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.598+1_598+3del microsatellite not provided [RCV002244401] Chr5:150251979..150251981 [GRCh38]
Chr5:149631542..149631544 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV003237395] Chr5:150223036 [GRCh38]
Chr5:149602599 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.451G>A (p.Ala151Thr) single nucleotide variant not provided [RCV002273661] Chr5:150253507 [GRCh38]
Chr5:149633070 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.712G>C (p.Asp238His) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV002266804] Chr5:150250792 [GRCh38]
Chr5:149630355 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1060A>G (p.Thr354Ala) single nucleotide variant not specified [RCV002281787] Chr5:150238706 [GRCh38]
Chr5:149618269 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.445G>A (p.Gly149Ser) single nucleotide variant not provided [RCV002265255] Chr5:150253513 [GRCh38]
Chr5:149633076 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV002288453]|not provided [RCV003443023] Chr5:150273140 [GRCh38]
Chr5:149652703 [GRCh37]
Chr5:5q32		 likely pathogenic|uncertain significance
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del) deletion Intellectual disability, autosomal dominant 53 [RCV002274473] Chr5:150250714..150250719 [GRCh38]
Chr5:149630277..149630282 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV003149129] Chr5:150250749 [GRCh38]
Chr5:149630312 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.940T>C (p.Ser314Pro) single nucleotide variant CAMK2A-related disorder [RCV003966284]|not provided [RCV003152157] Chr5:150247775 [GRCh38]
Chr5:149627338 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV002467476] Chr5:150250242 [GRCh38]
Chr5:149629805 [GRCh37]
Chr5:5q32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_015981.4(CAMK2A):c.271C>T (p.Leu91=) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV002471449] Chr5:150257564 [GRCh38]
Chr5:149637127 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1003A>G (p.Ser335Gly) single nucleotide variant not provided [RCV002467032] Chr5:150239718 [GRCh38]
Chr5:149619281 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV002468817] Chr5:150251777 [GRCh38]
Chr5:149631340 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1238-1G>C single nucleotide variant not provided [RCV003230022] Chr5:150223218 [GRCh38]
Chr5:149602781 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.901G>A (p.Gly301Arg) single nucleotide variant not provided [RCV002306029] Chr5:150247814 [GRCh38]
Chr5:149627377 [GRCh37]
Chr5:5q32		 pathogenic
NM_015981.4(CAMK2A):c.1406G>C (p.Arg469Pro) single nucleotide variant not provided [RCV002461667] Chr5:150223049 [GRCh38]
Chr5:149602612 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.984+3A>G single nucleotide variant Inborn genetic diseases [RCV002906999] Chr5:150245158 [GRCh38]
Chr5:149624721 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1017+1G>A single nucleotide variant not provided [RCV002512280] Chr5:150239703 [GRCh38]
Chr5:149619266 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.943+4G>T single nucleotide variant Inborn genetic diseases [RCV002813739] Chr5:150247768 [GRCh38]
Chr5:149627331 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1333A>G (p.Ile445Val) single nucleotide variant Inborn genetic diseases [RCV002935833] Chr5:150223122 [GRCh38]
Chr5:149602685 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.235A>G (p.Ile79Val) single nucleotide variant Inborn genetic diseases [RCV002677253]|Intellectual disability, autosomal dominant 53 [RCV004784108] Chr5:150257600 [GRCh38]
Chr5:149637163 [GRCh37]
Chr5:5q32		 likely benign|uncertain significance
NM_015981.4(CAMK2A):c.859_868del (p.Thr286_Val287insTer) deletion not provided [RCV003156582] Chr5:150250258..150250267 [GRCh38]
Chr5:149629821..149629830 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1142C>T (p.Thr381Met) single nucleotide variant not provided [RCV004795203] Chr5:150231305 [GRCh38]
Chr5:149610868 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1237+3G>A single nucleotide variant not provided [RCV004780829] Chr5:150228189 [GRCh38]
Chr5:149607752 [GRCh37]
Chr5:5q32		 uncertain significance
NC_000005.9:g.(149633110_149636135)_(149636395_149637125)del deletion not specified [RCV003226815] Chr5:149636135..149636395 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.943G>A (p.Gly315Arg) single nucleotide variant not provided [RCV003228241] Chr5:150247772 [GRCh38]
Chr5:149627335 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.604A>G (p.Ile202Val) single nucleotide variant not provided [RCV003159493] Chr5:150251839 [GRCh38]
Chr5:149631402 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.691G>T (p.Asp231Tyr) single nucleotide variant not provided [RCV003143951] Chr5:150251752 [GRCh38]
Chr5:149631315 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.595T>A (p.Cys199Ser) single nucleotide variant not provided [RCV003143952] Chr5:150251985 [GRCh38]
Chr5:149631548 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.411+1G>C single nucleotide variant not provided [RCV003143953] Chr5:150256572 [GRCh38]
Chr5:149636135 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.851_857delinsTGCATG (p.Gln284fs) indel not provided [RCV003139538] Chr5:150250269..150250275 [GRCh38]
Chr5:149629832..149629838 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.273-6C>T single nucleotide variant not specified [RCV003324199] Chr5:150256837 [GRCh38]
Chr5:149636400 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.272+15G>A single nucleotide variant not specified [RCV004800021] Chr5:150257548 [GRCh38]
Chr5:149637111 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.1351G>A (p.Ala451Thr) single nucleotide variant not provided [RCV003429892] Chr5:150223104 [GRCh38]
Chr5:149602667 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1331G>A (p.Arg444His) single nucleotide variant not provided [RCV003429893] Chr5:150223124 [GRCh38]
Chr5:149602687 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.*144G>C single nucleotide variant not provided [RCV003428671] Chr5:150222566 [GRCh38]
Chr5:149602129 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.1409A>G (p.Asp470Gly) single nucleotide variant Neurodevelopmental disorder [RCV003389159] Chr5:150223046 [GRCh38]
Chr5:149602609 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.702G>A (p.Ser234=) single nucleotide variant not provided [RCV003429894] Chr5:150250802 [GRCh38]
Chr5:149630365 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.684C>T (p.Gly228=) single nucleotide variant not provided [RCV003429895] Chr5:150251759 [GRCh38]
Chr5:149631322 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.*227T>A single nucleotide variant not provided [RCV003429890] Chr5:150222483 [GRCh38]
Chr5:149602046 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.*296G>C single nucleotide variant not provided [RCV003429889] Chr5:150222414 [GRCh38]
Chr5:149601977 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.330G>A (p.Ala110=) single nucleotide variant not provided [RCV003429897] Chr5:150256774 [GRCh38]
Chr5:149636337 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.*17C>T single nucleotide variant not provided [RCV003429891] Chr5:150222693 [GRCh38]
Chr5:149602256 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.681C>T (p.Ala227=) single nucleotide variant not provided [RCV003429896] Chr5:150251762 [GRCh38]
Chr5:149631325 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.*44A>G single nucleotide variant not provided [RCV003457449] Chr5:150222666 [GRCh38]
Chr5:149602229 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.1047C>T (p.Ile349=) single nucleotide variant not provided [RCV003428672] Chr5:150238719 [GRCh38]
Chr5:149618282 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.857C>A (p.Thr286Asn) single nucleotide variant not provided [RCV003441368] Chr5:150250269 [GRCh38]
Chr5:149629832 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.*190G>A single nucleotide variant not provided [RCV003428670] Chr5:150222520 [GRCh38]
Chr5:149602083 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1142+17C>A single nucleotide variant not specified [RCV003388555] Chr5:150231288 [GRCh38]
Chr5:149610851 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV003761181] Chr5:150250729 [GRCh38]
Chr5:149630292 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.1467-7C>G single nucleotide variant not specified [RCV003988245] Chr5:150222720 [GRCh38]
Chr5:149602283 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.312G>C (p.Arg104=) single nucleotide variant CAMK2A-related disorder [RCV003961937] Chr5:150256792 [GRCh38]
Chr5:149636355 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.218-10C>T single nucleotide variant CAMK2A-related disorder [RCV003973907] Chr5:150257627 [GRCh38]
Chr5:149637190 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.726G>A (p.Pro242=) single nucleotide variant CAMK2A-related disorder [RCV003904633] Chr5:150250778 [GRCh38]
Chr5:149630341 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.240A>C (p.Ser80=) single nucleotide variant not provided [RCV003884991] Chr5:150257595 [GRCh38]
Chr5:149637158 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.1330C>T (p.Arg444Cys) single nucleotide variant Inborn genetic diseases [RCV004434635] Chr5:150223125 [GRCh38]
Chr5:149602688 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.290T>C (p.Leu97Pro) single nucleotide variant Intellectual disability, autosomal recessive 63 [RCV004560490] Chr5:150256814 [GRCh38]
Chr5:149636377 [GRCh37]
Chr5:5q32		 likely pathogenic
NM_015981.4(CAMK2A):c.1238-5T>C single nucleotide variant not provided [RCV004585673] Chr5:150223222 [GRCh38]
Chr5:149602785 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.545C>T (p.Pro182Leu) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV004586377] Chr5:150252035 [GRCh38]
Chr5:149631598 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1066+4G>T single nucleotide variant Inborn genetic diseases [RCV004434634] Chr5:150238696 [GRCh38]
Chr5:149618259 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1387A>C (p.Thr463Pro) single nucleotide variant Inborn genetic diseases [RCV004600628] Chr5:150223068 [GRCh38]
Chr5:149602631 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu) single nucleotide variant Intellectual disability, autosomal dominant 53 [RCV004666666] Chr5:150273148 [GRCh38]
Chr5:149652711 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.400C>T (p.Arg134Trp) single nucleotide variant Inborn genetic diseases [RCV004600629] Chr5:150256584 [GRCh38]
Chr5:149636147 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1350C>T (p.Asp450=) single nucleotide variant not specified [RCV004690946] Chr5:150223105 [GRCh38]
Chr5:149602668 [GRCh37]
Chr5:5q32		 likely benign
NM_015981.4(CAMK2A):c.62+5G>C single nucleotide variant Inborn genetic diseases [RCV004607294] Chr5:150289559 [GRCh38]
Chr5:149669122 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1351G>T (p.Ala451Ser) single nucleotide variant not specified [RCV004699932] Chr5:150223104 [GRCh38]
Chr5:149602667 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.28A>G (p.Thr10Ala) single nucleotide variant not provided [RCV004762994]   uncertain significance
NM_015981.4(CAMK2A):c.1066G>T (p.Val356Leu) single nucleotide variant not provided [RCV004725875] Chr5:150238700 [GRCh38]
Chr5:149618263 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.54A>T (p.Glu18Asp) single nucleotide variant not provided [RCV004775709] Chr5:150289572 [GRCh38]
Chr5:149669135 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.39C>G (p.Tyr13Ter) single nucleotide variant not provided [RCV004781363] Chr5:150289587 [GRCh38]
Chr5:149669150 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.991A>G (p.Lys331Glu) single nucleotide variant not provided [RCV004798335] Chr5:150239730 [GRCh38]
Chr5:149619293 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.89G>A (p.Cys30Tyr) single nucleotide variant not specified [RCV004703115] Chr5:150273133 [GRCh38]
Chr5:149652696 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.683G>A (p.Gly228Asp) single nucleotide variant not provided [RCV004774906] Chr5:150251760 [GRCh38]
Chr5:149631323 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.485A>T (p.Glu162Val) single nucleotide variant not provided [RCV004763923]   uncertain significance
NM_015981.4(CAMK2A):c.578dup (p.Val194fs) duplication not provided [RCV004772784] Chr5:150252001..150252002 [GRCh38]
Chr5:149631564..149631565 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.514G>A (p.Gly172Arg) single nucleotide variant not provided [RCV004773851] Chr5:150253444 [GRCh38]
Chr5:149633007 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.869T>C (p.Leu290Pro) single nucleotide variant CAMK2A-related disorder [RCV004730754] Chr5:150250257 [GRCh38]
Chr5:149629820 [GRCh37]
Chr5:5q32		 uncertain significance
NM_015981.4(CAMK2A):c.1304A>G (p.Asp435Gly) single nucleotide variant not provided [RCV004770805] Chr5:150223151 [GRCh38]
Chr5:149602714 [GRCh37]
Chr5:5q32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3770
Count of miRNA genes:1158
Interacting mature miRNAs:1468
Transcripts:ENST00000348628, ENST00000351010, ENST00000398376, ENST00000507995, ENST00000508662, ENST00000510347, ENST00000515758
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407047457GWAS696433_Htriacylglycerol 52:6 measurement QTL GWAS696433 (human)0.0000009blood triglyceride amount (VT:0002644)5150267570150267571Human
407079205GWAS728181_Hgut microbiome measurement QTL GWAS728181 (human)2e-08gut microbiome measurement5150270190150270191Human
407057256GWAS706232_Hgut microbiome measurement QTL GWAS706232 (human)0.000008gut microbiome measurement5150265622150265623Human
407045182GWAS694158_Hurinary metabolite measurement QTL GWAS694158 (human)0.0000005urinary metabolite measurement5150243802150243803Human

Markers in Region
RH11735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,599,103 - 149,599,281UniSTSGRCh37
Build 365149,579,296 - 149,579,474RGDNCBI36
Celera5145,680,496 - 145,680,675RGD
Cytogenetic Map5q32UniSTS
HuRef5144,747,219 - 144,747,398UniSTS
GeneMap99-GB4 RH Map5576.55UniSTS
NCBI RH Map5891.6UniSTS
WI-16284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,600,714 - 149,600,838UniSTSGRCh37
Build 365149,580,907 - 149,581,031RGDNCBI36
Celera5145,682,109 - 145,682,233RGD
Cytogenetic Map5q32UniSTS
HuRef5144,748,832 - 144,748,956UniSTS
GeneMap99-GB4 RH Map5577.38UniSTS
Whitehead-RH Map5494.4UniSTS
bac51383T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,654,111 - 149,654,277UniSTSGRCh37
Build 365149,634,304 - 149,634,470RGDNCBI36
Celera5145,735,505 - 145,735,671RGD
Cytogenetic Map5q32UniSTS
HuRef5144,802,062 - 144,802,228UniSTS
CAMK2A__1170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,598,987 - 149,599,691UniSTSGRCh37
Build 365149,579,180 - 149,579,884RGDNCBI36
Celera5145,680,380 - 145,681,086RGD
HuRef5144,747,103 - 144,747,809UniSTS
RH35759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,599,488 - 149,599,667UniSTSGRCh37
Build 365149,579,681 - 149,579,860RGDNCBI36
Celera5145,680,883 - 145,681,062RGD
Cytogenetic Map5q32UniSTS
HuRef5144,747,606 - 144,747,785UniSTS
GeneMap99-GB4 RH Map5576.55UniSTS
NCBI RH Map5891.6UniSTS
1954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,600,760 - 149,600,854UniSTSGRCh37
Build 365149,580,953 - 149,581,047RGDNCBI36
Celera5145,682,155 - 145,682,249RGD
Cytogenetic Map5q32UniSTS
HuRef5144,748,878 - 144,748,972UniSTS
GeneMap99-GB4 RH Map5576.34UniSTS
NCBI RH Map5891.6UniSTS
G69463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,658,160 - 149,659,162UniSTSGRCh37
Build 365149,638,353 - 149,639,355RGDNCBI36
Celera5145,739,554 - 145,740,556RGD
Cytogenetic Map5q32UniSTS
HuRef5144,806,111 - 144,807,113UniSTS
D17S1195  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q32UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1202 2365 2788 2231 4927 1608 2179 4 547 1438 387 2245 6554 5936 40 3719 737 1660 1524 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_171825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF145710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF145711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF951952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ399941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000348628   ⟹   ENSP00000261793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,219,491 - 150,289,792 (-)Ensembl
Ensembl Acc Id: ENST00000351010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,774 - 150,245,328 (-)Ensembl
Ensembl Acc Id: ENST00000398376   ⟹   ENSP00000381412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,222,664 - 150,289,738 (-)Ensembl
Ensembl Acc Id: ENST00000507995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,265,142 - 150,289,787 (-)Ensembl
Ensembl Acc Id: ENST00000508662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,238,289 - 150,289,773 (-)Ensembl
Ensembl Acc Id: ENST00000510347   ⟹   ENSP00000426607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,876 - 150,289,773 (-)Ensembl
Ensembl Acc Id: ENST00000515758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,248,504 - 150,289,789 (-)Ensembl
Ensembl Acc Id: ENST00000671881   ⟹   ENSP00000500386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,219,491 - 150,289,773 (-)Ensembl
Ensembl Acc Id: ENST00000672089   ⟹   ENSP00000500700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,112 - 150,289,773 (-)Ensembl
Ensembl Acc Id: ENST00000672396   ⟹   ENSP00000499987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,791 - 150,289,755 (-)Ensembl
Ensembl Acc Id: ENST00000672404   ⟹   ENSP00000500152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,226,159 - 150,289,789 (-)Ensembl
Ensembl Acc Id: ENST00000672479   ⟹   ENSP00000500642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,219,596 - 150,290,093 (-)Ensembl
Ensembl Acc Id: ENST00000672752   ⟹   ENSP00000499939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,193 - 150,289,773 (-)Ensembl
Ensembl Acc Id: ENST00000672785   ⟹   ENSP00000500496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,790 - 150,289,755 (-)Ensembl
Ensembl Acc Id: ENST00000672829   ⟹   ENSP00000500613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,785 - 150,289,789 (-)Ensembl
Ensembl Acc Id: ENST00000682786   ⟹   ENSP00000507199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,193 - 150,289,951 (-)Ensembl
Ensembl Acc Id: ENST00000683115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,226,154 - 150,289,789 (-)Ensembl
Ensembl Acc Id: ENST00000683273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,767 - 150,224,405 (-)Ensembl
Ensembl Acc Id: ENST00000683332   ⟹   ENSP00000507006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,219,894 - 150,289,625 (-)Ensembl
Ensembl Acc Id: ENST00000683506   ⟹   ENSP00000508302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,248,704 - 150,289,789 (-)Ensembl
Ensembl Acc Id: ENST00000684093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,219,894 - 150,273,379 (-)Ensembl
Ensembl Acc Id: ENST00000684431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,221,767 - 150,231,489 (-)Ensembl
Ensembl Acc Id: ENST00000684465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,219,894 - 150,265,397 (-)Ensembl
RefSeq Acc Id: NM_001363989   ⟹   NP_001350918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,219,491 - 150,290,130 (-)NCBI
T2T-CHM13v2.05150,756,093 - 150,826,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363990   ⟹   NP_001350919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,219,491 - 150,290,130 (-)NCBI
T2T-CHM13v2.05150,756,093 - 150,826,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369025   ⟹   NP_001355954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,219,491 - 150,289,773 (-)NCBI
T2T-CHM13v2.05150,756,093 - 150,826,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015981   ⟹   NP_057065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,219,491 - 150,289,773 (-)NCBI
GRCh375149,599,054 - 149,669,403 (-)ENTREZGENE
Build 365149,579,248 - 149,649,529 (-)NCBI Archive
HuRef5144,747,170 - 144,817,356 (-)ENTREZGENE
CHM1_15149,031,647 - 149,101,993 (-)NCBI
T2T-CHM13v2.05150,756,093 - 150,826,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_171825   ⟹   NP_741960
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,219,491 - 150,289,773 (-)NCBI
GRCh375149,599,054 - 149,669,403 (-)ENTREZGENE
Build 365149,579,248 - 149,649,529 (-)NCBI Archive
HuRef5144,747,170 - 144,817,356 (-)ENTREZGENE
CHM1_15149,031,647 - 149,101,993 (-)NCBI
T2T-CHM13v2.05150,756,093 - 150,826,312 (-)NCBI
Sequence:
RefSeq Acc Id: NP_741960   ⟸   NM_171825
- Peptide Label: isoform 2
- UniProtKB: Q9Y2H4 (UniProtKB/Swiss-Prot),   Q9UL21 (UniProtKB/Swiss-Prot),   Q9Y352 (UniProtKB/Swiss-Prot),   Q9UQM7 (UniProtKB/Swiss-Prot),   Q7LDD5 (UniProtKB/TrEMBL),   Q8IWE0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057065   ⟸   NM_015981
- Peptide Label: isoform 1
- UniProtKB: A8K161 (UniProtKB/TrEMBL),   Q8IWE0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350919   ⟸   NM_001363990
- Peptide Label: isoform 2
- UniProtKB: Q9Y2H4 (UniProtKB/Swiss-Prot),   Q9UQM7 (UniProtKB/Swiss-Prot),   Q9UL21 (UniProtKB/Swiss-Prot),   Q9Y352 (UniProtKB/Swiss-Prot),   Q7LDD5 (UniProtKB/TrEMBL),   Q8IWE0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350918   ⟸   NM_001363989
- Peptide Label: isoform 1
- UniProtKB: A8K161 (UniProtKB/TrEMBL),   Q8IWE0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001355954   ⟸   NM_001369025
- Peptide Label: isoform 3
- UniProtKB: A0A5F9ZH21 (UniProtKB/TrEMBL),   Q8IWE0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000381412   ⟸   ENST00000398376
Ensembl Acc Id: ENSP00000261793   ⟸   ENST00000348628
Ensembl Acc Id: ENSP00000426607   ⟸   ENST00000510347
Ensembl Acc Id: ENSP00000500386   ⟸   ENST00000671881
Ensembl Acc Id: ENSP00000500700   ⟸   ENST00000672089
Ensembl Acc Id: ENSP00000499939   ⟸   ENST00000672752
Ensembl Acc Id: ENSP00000500496   ⟸   ENST00000672785
Ensembl Acc Id: ENSP00000500642   ⟸   ENST00000672479
Ensembl Acc Id: ENSP00000500152   ⟸   ENST00000672404
Ensembl Acc Id: ENSP00000499987   ⟸   ENST00000672396
Ensembl Acc Id: ENSP00000500613   ⟸   ENST00000672829
Ensembl Acc Id: ENSP00000508302   ⟸   ENST00000683506
Ensembl Acc Id: ENSP00000507199   ⟸   ENST00000682786
Ensembl Acc Id: ENSP00000507006   ⟸   ENST00000683332
Protein Domains
Calcium/calmodulin-dependent protein kinase II   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQM7-F1-model_v2 AlphaFold Q9UQM7 1-478 view protein structure

Promoters
RGD ID:6871250
Promoter ID:EPDNEW_H8790
Type:initiation region
Name:CAMK2A_1
Description:calcium/calmodulin dependent protein kinase II alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,289,773 - 150,289,833EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1460 AgrOrtholog
COSMIC CAMK2A COSMIC
Ensembl Genes ENSG00000070808 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000348628 ENTREZGENE
  ENST00000348628.11 UniProtKB/Swiss-Prot
  ENST00000351010.6 UniProtKB/TrEMBL
  ENST00000398376.8 UniProtKB/TrEMBL
  ENST00000510347.2 UniProtKB/TrEMBL
  ENST00000671881 ENTREZGENE
  ENST00000671881.1 UniProtKB/Swiss-Prot
  ENST00000672089.1 UniProtKB/TrEMBL
  ENST00000672396.1 UniProtKB/TrEMBL
  ENST00000672479 ENTREZGENE
  ENST00000672479.1 UniProtKB/Swiss-Prot
  ENST00000672752 ENTREZGENE
  ENST00000672752.1 UniProtKB/TrEMBL
  ENST00000672785.1 UniProtKB/TrEMBL
  ENST00000672829.1 UniProtKB/TrEMBL
  ENST00000682786 ENTREZGENE
  ENST00000682786.1 UniProtKB/Swiss-Prot
  ENST00000683332.1 UniProtKB/TrEMBL
  ENST00000683506.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.450.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070808 GTEx
HGNC ID HGNC:1460 ENTREZGENE
Human Proteome Map CAMK2A Human Proteome Map
InterPro Ca/CaM-dep_prot_kinase-assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTF2-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:815 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 815 ENTREZGENE
OMIM 114078 OMIM
PANTHER CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE TYPE II SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CaMKII_AD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA90 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54427 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZH21 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZH50_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHM9_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHR5_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHY2_HUMAN UniProtKB/TrEMBL
  A0A5K1VW76_HUMAN UniProtKB/TrEMBL
  A0A804HIC9_HUMAN UniProtKB/TrEMBL
  A0A804HLD1_HUMAN UniProtKB/TrEMBL
  A0A8V8TME7_HUMAN UniProtKB/TrEMBL
  A8K161 ENTREZGENE, UniProtKB/TrEMBL
  D6RFJ0_HUMAN UniProtKB/TrEMBL
  KCC2A_HUMAN UniProtKB/Swiss-Prot
  L8ECG5_HUMAN UniProtKB/TrEMBL
  Q27I69_HUMAN UniProtKB/TrEMBL
  Q7LDD5 ENTREZGENE, UniProtKB/TrEMBL
  Q8IWE0 ENTREZGENE, UniProtKB/TrEMBL
  Q9UL21 ENTREZGENE
  Q9UQM7 ENTREZGENE
  Q9Y2H4 ENTREZGENE
  Q9Y352 ENTREZGENE
UniProt Secondary Q9UL21 UniProtKB/Swiss-Prot
  Q9Y2H4 UniProtKB/Swiss-Prot
  Q9Y352 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 CAMK2A  calcium/calmodulin dependent protein kinase II alpha  CAMK2A  calcium/calmodulin-dependent protein kinase II alpha  Symbol and/or name change 5135510 APPROVED