CAMK2B (calcium/calmodulin dependent protein kinase II beta) - Rat Genome Database
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Gene: CAMK2B (calcium/calmodulin dependent protein kinase II beta) Homo sapiens
Analyze
Symbol: CAMK2B
Name: calcium/calmodulin dependent protein kinase II beta
RGD ID: 735326
HGNC Page HGNC
Description: Exhibits protein homodimerization activity. Involved in protein autophosphorylation and regulation of neuron migration. Localizes to calcium- and calmodulin-dependent protein kinase complex. Implicated in autosomal dominant mental retardation 54.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium/calmodulin-dependent protein kinase (CaM kinase) II beta; calcium/calmodulin-dependent protein kinase II beta; calcium/calmodulin-dependent protein kinase ii beta subunit; calcium/calmodulin-dependent protein kinase type II beta chain; calcium/calmodulin-dependent protein kinase type II subunit beta; CaM kinase II beta subunit; caM kinase II subunit beta; CaM-kinase II beta chain; CAM2; caMK-II subunit beta; CAMK2; CAMKB; CaMKIIbeta; MGC29528; MRD54; proline rich calmodulin-dependent protein kinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl744,217,150 - 44,334,577 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,217,154 - 44,326,167 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37744,256,753 - 44,365,193 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENEGRCh37GRCh37hg19GRCh37
Build 36744,225,416 - 44,331,749 (-)NCBINCBI36hg18NCBI36
Build 34744,032,136 - 44,138,464NCBI
Celera744,354,715 - 44,422,313 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,142,028 - 44,208,379 (-)ENTREZGENEHuRef
CHM1_1744,260,608 - 44,369,178 (-)NCBICHM1_1
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
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)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-[1-hydroxy-2-[4-(phenylmethyl)-1-piperidinyl]propyl]phenol  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
azamethiphos  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butan-1-ol  (EXP)
Butylparaben  (ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
carbon dioxide  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clozapine  (ISO)
cocaine  (EXP,ISO)
cyfluthrin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (EXP)
DDE  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ferroheme b  (ISO)
folic acid  (ISO)
furan  (ISO)
glyphosate  (EXP)
haloperidol  (ISO)
heme b  (ISO)
isoprenaline  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
linuron  (ISO)
lovastatin  (ISO)
malathion  (ISO)
methapyrilene  (EXP)
monosodium L-glutamate  (ISO)
nickel dichloride  (ISO)
ochratoxin A  (ISO)
ouabain  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
phencyclidine  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercitrin  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
titanium dioxide  (ISO)
triazines  (ISO)
tributylstannane  (ISO)
trichostatin A  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal morphology of the hippocampus  (IAGP)
Absent speech  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral generalized polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Constipation  (IAGP)
Dilation of lateral ventricles  (IAGP)
Dyskinesia  (IAGP)
Epileptic spasm  (IAGP)
Eyelid myoclonus  (IAGP)
Feeding difficulties  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Leukoencephalopathy  (IAGP)
Microcephaly  (IAGP)
Oculogyric crisis  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Poor speech  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Typical absence seizure  (IAGP)
Visual impairment  (IAGP)
Widened subarachnoid space  (IAGP)
References

Additional References at PubMed
PMID:2842767   PMID:3417668   PMID:7758473   PMID:8125298   PMID:8615909   PMID:8619474   PMID:8665664   PMID:8940188   PMID:9060999   PMID:9110174   PMID:9115241   PMID:9481670  
PMID:9724800   PMID:10373510   PMID:10819240   PMID:10858498   PMID:11013247   PMID:11042361   PMID:11076863   PMID:11160423   PMID:11306676   PMID:11325525   PMID:11468283   PMID:11710563  
PMID:11751951   PMID:11867691   PMID:11889801   PMID:12147342   PMID:12475968   PMID:12477932   PMID:12496285   PMID:12619878   PMID:12690205   PMID:12815021   PMID:12853948   PMID:14565989  
PMID:14622581   PMID:14702039   PMID:14722083   PMID:15199064   PMID:15294044   PMID:15312654   PMID:15489334   PMID:15489336   PMID:15604093   PMID:15665723   PMID:15792370   PMID:16126727  
PMID:16185778   PMID:16247765   PMID:16344560   PMID:16381901   PMID:16436603   PMID:17202341   PMID:17353931   PMID:17419996   PMID:18218981   PMID:18302935   PMID:18311135   PMID:18817731  
PMID:19058789   PMID:19156168   PMID:20178748   PMID:20379614   PMID:20668654   PMID:21479273   PMID:21610080   PMID:21871176   PMID:21873635   PMID:21884935   PMID:21988832   PMID:22399527  
PMID:22750393   PMID:22939624   PMID:23275563   PMID:23989986   PMID:24722188   PMID:25045698   PMID:25416956   PMID:26186194   PMID:26269645   PMID:26638075   PMID:26871637   PMID:27107014  
PMID:27173435   PMID:28130256   PMID:28319085   PMID:28514442   PMID:28611215   PMID:29100089   PMID:29410121   PMID:29426014   PMID:29791485   PMID:30561431   PMID:30948266   PMID:31091453  
PMID:32296183  


Genomics

Comparative Map Data
CAMK2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl744,217,150 - 44,334,577 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,217,154 - 44,326,167 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37744,256,753 - 44,365,193 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENEGRCh37GRCh37hg19GRCh37
Build 36744,225,416 - 44,331,749 (-)NCBINCBI36hg18NCBI36
Build 34744,032,136 - 44,138,464NCBI
Celera744,354,715 - 44,422,313 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,142,028 - 44,208,379 (-)ENTREZGENEHuRef
CHM1_1744,260,608 - 44,369,178 (-)NCBICHM1_1
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Camk2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39115,919,642 - 6,016,401 (-)NCBIGRCm39mm39
GRCm38115,969,629 - 6,066,357 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl115,969,644 - 6,066,362 (-)EnsemblGRCm38mm10GRCm38
MGSCv37115,869,645 - 5,965,751 (-)NCBIGRCm37mm9NCBIm37
MGSCv36115,869,675 - 5,965,751 (-)NCBImm8
Celera116,461,702 - 6,553,628 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.89NCBI
Camk2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21480,845,206 - 80,934,172 (-)NCBI
Rnor_6.0 Ensembl1486,208,901 - 86,297,652 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01486,208,876 - 86,297,727 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01486,893,062 - 86,982,256 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41486,632,686 - 86,721,281 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11486,653,834 - 86,740,406 (-)NCBI
Celera1479,728,956 - 79,817,594 (-)NCBICelera
Cytogenetic Map14q21NCBI
Camk2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,713,552 - 7,760,207 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,711,583 - 7,760,506 (+)NCBIChiLan1.0ChiLan1.0
CAMK2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1745,001,240 - 45,110,499 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl745,001,267 - 45,110,342 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0744,930,859 - 45,040,078 (-)NCBIMhudiblu_PPA_v0panPan3
Camk2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647819,183,493 - 19,278,457 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAMK2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,861,466 - 50,957,945 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,862,225 - 50,956,263 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21855,764,825 - 55,851,601 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CAMK2B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12114,342,751 - 14,451,274 (+)NCBI
ChlSab1.1 Ensembl2114,342,892 - 14,451,282 (+)Ensembl
Camk2b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247407,750,327 - 7,828,891 (+)NCBI

Position Markers
SHGC-32552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,301,403 - 44,301,529UniSTSGRCh37
Build 36744,267,928 - 44,268,054RGDNCBI36
Celera744,399,895 - 44,400,021RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,185,948 - 44,186,074UniSTS
CRA_TCAGchr7v2744,340,920 - 44,341,046UniSTS
Stanford-G3 RH Map71968.0UniSTS
NCBI RH Map7659.7UniSTS
GeneMap99-G3 RH Map71968.0UniSTS
SHGC-79851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,284,705 - 44,284,994UniSTSGRCh37
Build 36744,251,230 - 44,251,519RGDNCBI36
Celera744,382,682 - 44,382,971RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,169,478 - 44,169,767UniSTS
CRA_TCAGchr7v2744,324,221 - 44,324,510UniSTS
TNG Radiation Hybrid Map721550.0UniSTS
TNG Radiation Hybrid Map721546.0UniSTS
SHGC-147284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,327,503 - 44,327,803UniSTSGRCh37
Build 36744,294,028 - 44,294,328RGDNCBI36
Celera744,425,992 - 44,426,292RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,212,058 - 44,212,358UniSTS
CRA_TCAGchr7v2744,367,022 - 44,367,322UniSTS
TNG Radiation Hybrid Map721558.0UniSTS
SHGC-172651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,291,415 - 44,291,717UniSTSGRCh37
Build 36744,257,940 - 44,258,242RGDNCBI36
Celera744,389,392 - 44,389,694RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,176,188 - 44,176,490UniSTS
CRA_TCAGchr7v2744,330,931 - 44,331,233UniSTS
TNG Radiation Hybrid Map721550.0UniSTS
D7S2630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,275,394 - 44,275,629UniSTSGRCh37
Build 36744,241,919 - 44,242,154RGDNCBI36
Celera744,373,367 - 44,373,602RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,160,163 - 44,160,398UniSTS
CRA_TCAGchr7v2744,314,906 - 44,315,141UniSTS
D7S2140E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,256,963 - 44,257,076UniSTSGRCh37
Build 36744,223,488 - 44,223,601RGDNCBI36
Celera744,354,929 - 44,355,042RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,142,242 - 44,142,355UniSTS
CRA_TCAGchr7v2744,296,469 - 44,296,582UniSTS
GeneMap99-GB4 RH Map7210.35UniSTS
GDB:1318018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,341,959 - 44,342,034UniSTSGRCh37
Build 36744,308,484 - 44,308,559RGDNCBI36
Celera744,440,450 - 44,440,525RGD
Cytogenetic Map7p14.3-p14.1UniSTS
HuRef744,226,524 - 44,226,599UniSTS
CRA_TCAGchr7v2744,381,478 - 44,381,553UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10123
Count of miRNA genes:1197
Interacting mature miRNAs:1568
Transcripts:ENST00000258682, ENST00000346990, ENST00000347193, ENST00000350811, ENST00000353185, ENST00000353625, ENST00000358707, ENST00000395747, ENST00000395749, ENST00000415369, ENST00000421607, ENST00000424197, ENST00000425809, ENST00000427209, ENST00000433930, ENST00000440254, ENST00000457475, ENST00000462128, ENST00000466584, ENST00000470984, ENST00000484972, ENST00000489429, ENST00000495819, ENST00000497127, ENST00000497584, ENST00000502837, ENST00000523845
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 4 795 970 7 11 2 1242 1161 3249 16 24 725 9 1 1240 1
Low 1437 787 478 412 240 355 1573 621 440 222 858 226 56 238 879 2
Below cutoff 940 1380 238 170 1480 70 1469 405 39 151 553 607 109 965 669

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA399393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB073352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF081572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF081924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF140350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI190315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI550751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ130578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX445032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA069361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB175099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB566810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U23460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258682   ⟹   ENSP00000258682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,430 - 44,325,424 (-)Ensembl
RefSeq Acc Id: ENST00000346990   ⟹   ENSP00000326518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,430 - 44,325,424 (-)Ensembl
RefSeq Acc Id: ENST00000347193   ⟹   ENSP00000326544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,430 - 44,325,424 (-)Ensembl
RefSeq Acc Id: ENST00000350811   ⟹   ENSP00000326375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,217,150 - 44,325,496 (-)Ensembl
RefSeq Acc Id: ENST00000353185   ⟹   ENSP00000326600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,417 - 44,325,485 (-)Ensembl
RefSeq Acc Id: ENST00000353625   ⟹   ENSP00000326427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,351 - 44,325,431 (-)Ensembl
RefSeq Acc Id: ENST00000358707   ⟹   ENSP00000351542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,346 - 44,325,625 (-)Ensembl
RefSeq Acc Id: ENST00000395747   ⟹   ENSP00000379096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,220,062 - 44,325,421 (-)Ensembl
RefSeq Acc Id: ENST00000395749   ⟹   ENSP00000379098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,217,154 - 44,325,594 (-)Ensembl
RefSeq Acc Id: ENST00000415369   ⟹   ENSP00000390419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,243,470 - 44,323,962 (-)Ensembl
RefSeq Acc Id: ENST00000421607   ⟹   ENSP00000388445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,244,889 - 44,325,447 (-)Ensembl
RefSeq Acc Id: ENST00000424197   ⟹   ENSP00000400387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,243,473 - 44,325,474 (-)Ensembl
RefSeq Acc Id: ENST00000425809   ⟹   ENSP00000410445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,213 - 44,225,913 (-)Ensembl
RefSeq Acc Id: ENST00000427209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,263,005 - 44,325,519 (-)Ensembl
RefSeq Acc Id: ENST00000433930   ⟹   ENSP00000388951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,225,835 - 44,242,306 (-)Ensembl
RefSeq Acc Id: ENST00000440254   ⟹   ENSP00000397937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,292 - 44,325,656 (-)Ensembl
RefSeq Acc Id: ENST00000457475   ⟹   ENSP00000390292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,217,150 - 44,325,631 (-)Ensembl
RefSeq Acc Id: ENST00000462128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,247,120 - 44,268,132 (-)Ensembl
RefSeq Acc Id: ENST00000466584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,349 - 44,220,953 (-)Ensembl
RefSeq Acc Id: ENST00000470984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,247,129 - 44,326,167 (-)Ensembl
RefSeq Acc Id: ENST00000484972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,243,485 - 44,268,825 (-)Ensembl
RefSeq Acc Id: ENST00000489429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,365 - 44,230,347 (-)Ensembl
RefSeq Acc Id: ENST00000495819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,243,456 - 44,325,190 (-)Ensembl
RefSeq Acc Id: ENST00000497127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,243,251 - 44,259,581 (-)Ensembl
RefSeq Acc Id: ENST00000497584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,219,351 - 44,334,577 (-)Ensembl
RefSeq Acc Id: ENST00000523845   ⟹   ENSP00000428912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,217,559 - 44,325,475 (-)Ensembl
RefSeq Acc Id: NM_001220   ⟹   NP_001211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001293170   ⟹   NP_001280099
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
CHM1_1744,260,608 - 44,369,178 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172078   ⟹   NP_742075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172079   ⟹   NP_742076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172080   ⟹   NP_742077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172081   ⟹   NP_742078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172082   ⟹   NP_742079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172083   ⟹   NP_742080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_172084   ⟹   NP_742081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,217,154 - 44,325,594 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)ENTREZGENE
Build 36744,225,416 - 44,331,749 (-)NCBI Archive
HuRef744,142,028 - 44,208,379 (-)ENTREZGENE
CHM1_1744,260,608 - 44,369,178 (-)NCBI
CRA_TCAGchr7v2744,296,255 - 44,404,749 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249862   ⟹   XP_005249919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249864   ⟹   XP_005249921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
GRCh37744,256,749 - 44,365,230 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715781   ⟹   XP_006715844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715784   ⟹   XP_006715847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515547   ⟹   XP_011513849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515549   ⟹   XP_011513851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515550   ⟹   XP_011513852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515551   ⟹   XP_011513853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515552   ⟹   XP_011513854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515553   ⟹   XP_011513855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515554   ⟹   XP_011513856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515555   ⟹   XP_011513857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515556   ⟹   XP_011513858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515557   ⟹   XP_011513859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515558   ⟹   XP_011513860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,220,826 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515559   ⟹   XP_011513861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012660   ⟹   XP_016868149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012661   ⟹   XP_016868150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012662   ⟹   XP_016868151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012663   ⟹   XP_016868152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012664   ⟹   XP_016868153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012665   ⟹   XP_016868154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012666   ⟹   XP_016868155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012667   ⟹   XP_016868156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012668   ⟹   XP_016868157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012669   ⟹   XP_016868158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012670   ⟹   XP_016868159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446945   ⟹   XP_024302713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,325,507 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446946   ⟹   XP_024302714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,219,345 - 44,326,167 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001211 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280099 (Get FASTA)   NCBI Sequence Viewer  
  NP_742075 (Get FASTA)   NCBI Sequence Viewer  
  NP_742076 (Get FASTA)   NCBI Sequence Viewer  
  NP_742077 (Get FASTA)   NCBI Sequence Viewer  
  NP_742078 (Get FASTA)   NCBI Sequence Viewer  
  NP_742079 (Get FASTA)   NCBI Sequence Viewer  
  NP_742080 (Get FASTA)   NCBI Sequence Viewer  
  NP_742081 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249919 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249921 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715844 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715847 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513849 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513851 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513852 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513853 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513854 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513855 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513856 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513857 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513858 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513860 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513861 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868149 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868150 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868151 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868152 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868153 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868154 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868155 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868156 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868157 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868158 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868159 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302713 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302714 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB16863 (Get FASTA)   NCBI Sequence Viewer  
  AAC99802 (Get FASTA)   NCBI Sequence Viewer  
  AAD03743 (Get FASTA)   NCBI Sequence Viewer  
  AAD03744 (Get FASTA)   NCBI Sequence Viewer  
  AAD42035 (Get FASTA)   NCBI Sequence Viewer  
  AAD42036 (Get FASTA)   NCBI Sequence Viewer  
  AAD42037 (Get FASTA)   NCBI Sequence Viewer  
  AAD42038 (Get FASTA)   NCBI Sequence Viewer  
  AAD42070 (Get FASTA)   NCBI Sequence Viewer  
  AAH19070 (Get FASTA)   NCBI Sequence Viewer  
  AAS02024 (Get FASTA)   NCBI Sequence Viewer  
  AAS07454 (Get FASTA)   NCBI Sequence Viewer  
  BAD96423 (Get FASTA)   NCBI Sequence Viewer  
  BAF82837 (Get FASTA)   NCBI Sequence Viewer  
  BAG38029 (Get FASTA)   NCBI Sequence Viewer  
  BAH11682 (Get FASTA)   NCBI Sequence Viewer  
  CAB65120 (Get FASTA)   NCBI Sequence Viewer  
  CAB65121 (Get FASTA)   NCBI Sequence Viewer  
  CAB65122 (Get FASTA)   NCBI Sequence Viewer  
  EAL23755 (Get FASTA)   NCBI Sequence Viewer  
  EAL23756 (Get FASTA)   NCBI Sequence Viewer  
  EAL23757 (Get FASTA)   NCBI Sequence Viewer  
  EAL23758 (Get FASTA)   NCBI Sequence Viewer  
  EAL23759 (Get FASTA)   NCBI Sequence Viewer  
  EAL23760 (Get FASTA)   NCBI Sequence Viewer  
  EAL23761 (Get FASTA)   NCBI Sequence Viewer  
  EAL23762 (Get FASTA)   NCBI Sequence Viewer  
  EAW61104 (Get FASTA)   NCBI Sequence Viewer  
  EAW61105 (Get FASTA)   NCBI Sequence Viewer  
  EAW61106 (Get FASTA)   NCBI Sequence Viewer  
  EAW61107 (Get FASTA)   NCBI Sequence Viewer  
  EAW61108 (Get FASTA)   NCBI Sequence Viewer  
  EAW61109 (Get FASTA)   NCBI Sequence Viewer  
  Q13554 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_742081   ⟸   NM_172084
- Peptide Label: isoform 8
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_742077   ⟸   NM_172080
- Peptide Label: isoform 4
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_742080   ⟸   NM_172083
- Peptide Label: isoform 7
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_742078   ⟸   NM_172081
- Peptide Label: isoform 5
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_742076   ⟸   NM_172079
- Peptide Label: isoform 3
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_742079   ⟸   NM_172082
- Peptide Label: isoform 6
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_742075   ⟸   NM_172078
- Peptide Label: isoform 2
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001211   ⟸   NM_001220
- Peptide Label: isoform 1
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot),   A4D2J9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249921   ⟸   XM_005249864
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_005249919   ⟸   XM_005249862
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_006715844   ⟸   XM_006715781
- Peptide Label: isoform X29
- Sequence:
RefSeq Acc Id: XP_006715847   ⟸   XM_006715784
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: NP_001280099   ⟸   NM_001293170
- Peptide Label: isoform 2
- UniProtKB: Q13554 (UniProtKB/Swiss-Prot),   B7Z1Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513861   ⟸   XM_011515559
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011513859   ⟸   XM_011515557
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011513856   ⟸   XM_011515554
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011513854   ⟸   XM_011515552
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011513858   ⟸   XM_011515556
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011513852   ⟸   XM_011515550
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011513853   ⟸   XM_011515551
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011513851   ⟸   XM_011515549
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011513855   ⟸   XM_011515553
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011513857   ⟸   XM_011515555
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011513849   ⟸   XM_011515547
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513860   ⟸   XM_011515558
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016868159   ⟸   XM_017012670
- Peptide Label: isoform X28
- Sequence:
RefSeq Acc Id: XP_016868157   ⟸   XM_017012668
- Peptide Label: isoform X25
- Sequence:
RefSeq Acc Id: XP_016868158   ⟸   XM_017012669
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_016868152   ⟸   XM_017012663
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016868156   ⟸   XM_017012667
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: XP_016868155   ⟸   XM_017012666
- Peptide Label: isoform X23
- Sequence:
RefSeq Acc Id: XP_016868154   ⟸   XM_017012665
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_016868153   ⟸   XM_017012664
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016868151   ⟸   XM_017012662
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016868149   ⟸   XM_017012660
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016868150   ⟸   XM_017012661
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_024302714   ⟸   XM_024446946
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: XP_024302713   ⟸   XM_024446945
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: ENSP00000400387   ⟸   ENST00000424197
RefSeq Acc Id: ENSP00000326518   ⟸   ENST00000346990
RefSeq Acc Id: ENSP00000326544   ⟸   ENST00000347193
RefSeq Acc Id: ENSP00000410445   ⟸   ENST00000425809
RefSeq Acc Id: ENSP00000258682   ⟸   ENST00000258682
RefSeq Acc Id: ENSP00000397937   ⟸   ENST00000440254
RefSeq Acc Id: ENSP00000390419   ⟸   ENST00000415369
RefSeq Acc Id: ENSP00000390292   ⟸   ENST00000457475
RefSeq Acc Id: ENSP00000326375   ⟸   ENST00000350811
RefSeq Acc Id: ENSP00000428912   ⟸   ENST00000523845
RefSeq Acc Id: ENSP00000326600   ⟸   ENST00000353185
RefSeq Acc Id: ENSP00000326427   ⟸   ENST00000353625
RefSeq Acc Id: ENSP00000388951   ⟸   ENST00000433930
RefSeq Acc Id: ENSP00000379098   ⟸   ENST00000395749
RefSeq Acc Id: ENSP00000379096   ⟸   ENST00000395747
RefSeq Acc Id: ENSP00000388445   ⟸   ENST00000421607
RefSeq Acc Id: ENSP00000351542   ⟸   ENST00000358707
Protein Domains
CaMKII_AD   Protein kinase

Promoters
RGD ID:6815631
Promoter ID:HG_MRA:14970
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:U50358
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,247,061 - 44,247,561 (-)MPROMDB
RGD ID:7210519
Promoter ID:EPDNEW_H11000
Type:initiation region
Name:CAMK2B_1
Description:calcium/calmodulin dependent protein kinase II beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11001  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,325,477 - 44,325,537EPDNEW
RGD ID:7210509
Promoter ID:EPDNEW_H11001
Type:initiation region
Name:CAMK2B_2
Description:calcium/calmodulin dependent protein kinase II beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11000  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,325,731 - 44,325,791EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) single nucleotide variant Dystonia [RCV001003964]|Inborn genetic diseases [RCV000623203]|Intellectual disability [RCV000577890]|Intellectual disability, autosomal dominant 54 [RCV000516163] Chr7:44243526 [GRCh38]
Chr7:44283125 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_001220.5(CAMK2B):c.820-1G>A single nucleotide variant Intellectual disability [RCV000577873] Chr7:44241784 [GRCh38]
Chr7:44281383 [GRCh37]
Chr7:7p13
pathogenic
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p13(chr7:44287818-44581121)x3 copy number gain See cases [RCV000135847] Chr7:44287818..44581121 [GRCh38]
Chr7:44327417..44620720 [GRCh37]
Chr7:44293942..44587245 [NCBI36]
Chr7:7p13
benign
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13
pathogenic
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13
pathogenic
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys) single nucleotide variant Intellectual disability [RCV000577922]|Intellectual disability, autosomal dominant 54 [RCV000516161] Chr7:44254555 [GRCh38]
Chr7:44294154 [GRCh37]
Chr7:7p13
pathogenic
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) single nucleotide variant Intellectual disability [RCV000577898]|Intellectual disability, autosomal dominant 54 [RCV000516157]|not provided [RCV000760472] Chr7:44284206 [GRCh38]
Chr7:44323805 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) single nucleotide variant Inborn genetic diseases [RCV000624255]|Intellectual disability [RCV000577892]|Intellectual disability, autosomal dominant 54 [RCV000516162] Chr7:44241702 [GRCh38]
Chr7:44281301 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys) single nucleotide variant Intellectual disability [RCV000577912]|Intellectual disability, autosomal dominant 54 [RCV000516159] Chr7:44242328 [GRCh38]
Chr7:44281927 [GRCh37]
Chr7:7p13
pathogenic
NM_001220.5(CAMK2B):c.1978G>A (p.Ala660Thr) single nucleotide variant not provided [RCV000584951] Chr7:44220085 [GRCh38]
Chr7:44259684 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p13(chr7:44298464-44663913)x3 copy number gain See cases [RCV000449189] Chr7:44298464..44663913 [GRCh37]
Chr7:7p13
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13(chr7:43884184-44297732)x3 copy number gain not provided [RCV000584852] Chr7:43884184..44297732 [GRCh37]
Chr7:7p13
likely benign
NM_001220.5(CAMK2B):c.903+1G>A single nucleotide variant Intellectual disability [RCV000577913]|not provided [RCV000585224] Chr7:44241699 [GRCh38]
Chr7:44281298 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_001220.5(CAMK2B):c.638C>T (p.Pro213Leu) single nucleotide variant Intellectual disability, autosomal dominant 54 [RCV000678219] Chr7:44242618 [GRCh38]
Chr7:44282217 [GRCh37]
Chr7:7p13
pathogenic
NM_001220.5(CAMK2B):c.852A>T (p.Arg284Ser) single nucleotide variant Intellectual disability, autosomal dominant 54 [RCV000678220] Chr7:44241751 [GRCh38]
Chr7:44281350 [GRCh37]
Chr7:7p13
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13(chr7:44263844-44272121)x1 copy number loss not provided [RCV000746662] Chr7:44263844..44272121 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44266376-44268127)x1 copy number loss not provided [RCV000746663] Chr7:44266376..44268127 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44266376-44268785)x1 copy number loss not provided [RCV000746664] Chr7:44266376..44268785 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44266376-44272121)x1 copy number loss not provided [RCV000746665] Chr7:44266376..44272121 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44266441-44268127)x1 copy number loss not provided [RCV000746666] Chr7:44266441..44268127 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44266441-44271307)x1 copy number loss not provided [RCV000746667] Chr7:44266441..44271307 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44266441-44272121)x1 copy number loss not provided [RCV000746668] Chr7:44266441..44272121 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44310945-44443455)x3 copy number gain not provided [RCV000746669] Chr7:44310945..44443455 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p13(chr7:44364525-44365357)x1 copy number loss not provided [RCV000746670] Chr7:44364525..44365357 [GRCh37]
Chr7:7p13
benign
NM_001220.5(CAMK2B):c.1556C>T (p.Pro519Leu) single nucleotide variant not provided [RCV000998794] Chr7:44226557 [GRCh38]
Chr7:44266156 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001220.5(CAMK2B):c.1977C>T (p.Gly659=) single nucleotide variant not provided [RCV000965041] Chr7:44220086 [GRCh38]
Chr7:44259685 [GRCh37]
Chr7:7p13
benign
NM_001220.5(CAMK2B):c.994G>A (p.Gly332Ser) single nucleotide variant not provided [RCV001171987] Chr7:44239616 [GRCh38]
Chr7:44279215 [GRCh37]
Chr7:7p13
uncertain significance
NM_001220.5(CAMK2B):c.1655del (p.Gly552fs) deletion Intellectual disability, autosomal dominant 54 [RCV001253753] Chr7:44220844 [GRCh38]
Chr7:44260443 [GRCh37]
Chr7:7p13
uncertain significance
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup) duplication Intellectual disability [RCV001260651] Chr7:44241700..44241701 [GRCh38]
Chr7:44281299..44281300 [GRCh37]
Chr7:7p13
likely pathogenic
NM_001220.5(CAMK2B):c.448G>C (p.Gly150Arg) single nucleotide variant Inborn genetic diseases [RCV001267540] Chr7:44243494 [GRCh38]
Chr7:44283093 [GRCh37]
Chr7:7p13
uncertain significance
NM_001220.5(CAMK2B):c.1329del (p.Pro444fs) deletion Intellectual disability [RCV001260650] Chr7:44229398 [GRCh38]
Chr7:44268997 [GRCh37]
Chr7:7p13
likely benign
NM_001220.5(CAMK2B):c.1210G>A (p.Asp404Asn) single nucleotide variant not provided [RCV001280691] Chr7:44231021 [GRCh38]
Chr7:44270620 [GRCh37]
Chr7:7p13
uncertain significance
NM_001220.5(CAMK2B):c.1361T>C (p.Leu454Pro) single nucleotide variant Inborn genetic diseases [RCV001267607] Chr7:44228903 [GRCh38]
Chr7:44268502 [GRCh37]
Chr7:7p13
uncertain significance
NM_001220.5(CAMK2B):c.1939G>A (p.Asp647Asn) single nucleotide variant Inborn genetic diseases [RCV001266837] Chr7:44220124 [GRCh38]
Chr7:44259723 [GRCh37]
Chr7:7p13
uncertain significance
NM_001220.5(CAMK2B):c.523G>A (p.Ala175Thr) single nucleotide variant Inborn genetic diseases [RCV001267413] Chr7:44243328 [GRCh38]
Chr7:44282927 [GRCh37]
Chr7:7p13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1461 AgrOrtholog
COSMIC CAMK2B COSMIC
Ensembl Genes ENSG00000058404 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000258682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000326375 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000326427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000326518 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000326544 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000326600 UniProtKB/TrEMBL
  ENSP00000351542 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379096 UniProtKB/Swiss-Prot
  ENSP00000379098 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388445 UniProtKB/TrEMBL
  ENSP00000388951 UniProtKB/TrEMBL
  ENSP00000390292 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390419 UniProtKB/TrEMBL
  ENSP00000397937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400387 UniProtKB/TrEMBL
  ENSP00000410445 UniProtKB/TrEMBL
  ENSP00000428912 UniProtKB/TrEMBL
Ensembl Transcript ENST00000258682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000346990 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000347193 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000350811 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000353185 UniProtKB/TrEMBL
  ENST00000353625 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358707 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395747 UniProtKB/Swiss-Prot
  ENST00000395749 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415369 UniProtKB/TrEMBL
  ENST00000421607 UniProtKB/TrEMBL
  ENST00000424197 UniProtKB/TrEMBL
  ENST00000425809 UniProtKB/TrEMBL
  ENST00000433930 UniProtKB/TrEMBL
  ENST00000440254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523845 UniProtKB/TrEMBL
GTEx ENSG00000058404 GTEx
HGNC ID HGNC:1461 ENTREZGENE
Human Proteome Map CAMK2B 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:816 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 816 ENTREZGENE
OMIM 607707 OMIM
  617799 OMIM
Pfam CaMKII_AD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA91 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 A4D2J9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z1Z6 ENTREZGENE, UniProtKB/TrEMBL
  D3DVK8_HUMAN UniProtKB/TrEMBL
  E7EQE4_HUMAN UniProtKB/TrEMBL
  E7ERS6_HUMAN UniProtKB/TrEMBL
  E7ETC9_HUMAN UniProtKB/TrEMBL
  E9PBE8_HUMAN UniProtKB/TrEMBL
  H7BXS4_HUMAN UniProtKB/TrEMBL
  H7BZC6_HUMAN UniProtKB/TrEMBL
  H7C394_HUMAN UniProtKB/TrEMBL
  KCC2B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q75KE9_HUMAN UniProtKB/TrEMBL
  Q75LA8_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D2K0 UniProtKB/Swiss-Prot
  A4D2K1 UniProtKB/Swiss-Prot
  A4D2K2 UniProtKB/Swiss-Prot
  A4D2K3 UniProtKB/Swiss-Prot
  A4D2K4 UniProtKB/Swiss-Prot
  A4D2K5 UniProtKB/Swiss-Prot
  A4D2K6 UniProtKB/Swiss-Prot
  O95437 UniProtKB/Swiss-Prot
  O95438 UniProtKB/Swiss-Prot
  O95599 UniProtKB/Swiss-Prot
  Q9UGH7 UniProtKB/Swiss-Prot
  Q9UGH8 UniProtKB/Swiss-Prot
  Q9UGH9 UniProtKB/Swiss-Prot
  Q9UNX0 UniProtKB/Swiss-Prot
  Q9UNX7 UniProtKB/Swiss-Prot
  Q9UP00 UniProtKB/Swiss-Prot
  Q9Y5N4 UniProtKB/Swiss-Prot
  Q9Y6F4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 CAMK2B  calcium/calmodulin dependent protein kinase II beta    calcium/calmodulin-dependent protein kinase II beta  Symbol and/or name change 5135510 APPROVED
2011-08-16 CAMK2B  calcium/calmodulin-dependent protein kinase II beta  CAMK2B  calcium/calmodulin-dependent protein kinase II beta  Symbol and/or name change 5135510 APPROVED