CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1) - Rat Genome Database

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Gene: CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1) Homo sapiens
Analyze
Symbol: CACNB1
Name: calcium voltage-gated channel auxiliary subunit beta 1
RGD ID: 68552
HGNC Page HGNC:1401
Description: Enables calcium channel regulator activity. Involved in cellular response to amyloid-beta and regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Part of voltage-gated calcium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAB1; CACNLB1; calcium channel voltage-dependent subunit beta 1; calcium channel, L type, beta 1 polypeptide; calcium channel, voltage-dependent, beta 1 subunit; CCHLB1; dihydropyridine-sensitive L-type, calcium channel beta-1 subunit; MGC41896; voltage-dependent L-type calcium channel subunit beta-1
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
GRCh381739,173,453 - 39,197,669 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1739,173,453 - 39,197,702 (-)EnsemblGRCh38hg38GRCh38
GRCh371737,329,706 - 37,353,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361734,583,235 - 34,607,427 (-)NCBINCBI36Build 36hg18NCBI36
Build 341734,586,914 - 34,607,427NCBI
Celera1733,990,617 - 34,014,805 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1733,125,170 - 33,149,131 (-)NCBIHuRef
CHM1_11737,565,987 - 37,590,231 (-)NCBICHM1_1
T2T-CHM13v2.01740,037,330 - 40,061,546 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
alfentanil pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
arrhythmogenic right ventricular cardiomyopathy pathway  (IEA)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway   (EXP)
calcium transport pathway   (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
felodipine pharmacokinetics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
gliclazide pharmacodynamics pathway  (EXP)
glyburide pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
hypertrophic cardiomyopathy pathway  (IEA)
ibutilide pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway   (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nadolol pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway   (EXP)
potassium channel inhibitors pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

References - curated
# Reference Title Reference Citation
1. Voltage-gated calcium channels. Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Iles DE, etal., Hum Mol Genet 1993 Jul;2(7):863-8.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1309651   PMID:1370480   PMID:1385409   PMID:1657644   PMID:7916667   PMID:8381767   PMID:8905728   PMID:8943043   PMID:10066897   PMID:10465427   PMID:10624822   PMID:12477932  
PMID:14623965   PMID:14760703   PMID:14762176   PMID:15342556   PMID:16713569   PMID:17052716   PMID:17081983   PMID:18535142   PMID:19821165   PMID:19953087   PMID:21098446   PMID:21832049  
PMID:21873635   PMID:21883149   PMID:22982493   PMID:23382691   PMID:23602568   PMID:25798074   PMID:27129199   PMID:27273705   PMID:28514442   PMID:29212769   PMID:32296183   PMID:33961781  
PMID:35122502  


Genomics

Comparative Map Data
CACNB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381739,173,453 - 39,197,669 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1739,173,453 - 39,197,702 (-)EnsemblGRCh38hg38GRCh38
GRCh371737,329,706 - 37,353,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361734,583,235 - 34,607,427 (-)NCBINCBI36Build 36hg18NCBI36
Build 341734,586,914 - 34,607,427NCBI
Celera1733,990,617 - 34,014,805 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1733,125,170 - 33,149,131 (-)NCBIHuRef
CHM1_11737,565,987 - 37,590,231 (-)NCBICHM1_1
T2T-CHM13v2.01740,037,330 - 40,061,546 (-)NCBIT2T-CHM13v2.0
Cacnb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391197,892,339 - 97,913,860 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1197,892,334 - 97,913,860 (-)EnsemblGRCm39 Ensembl
GRCm381198,001,508 - 98,023,034 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1198,001,508 - 98,023,034 (-)EnsemblGRCm38mm10GRCm38
MGSCv371197,864,215 - 97,883,941 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361197,818,991 - 97,839,113 (-)NCBIMGSCv36mm8
Celera11107,653,222 - 107,676,228 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1161.5NCBI
Cacnb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81083,494,509 - 83,515,164 (-)NCBIGRCr8
mRatBN7.21082,998,182 - 83,018,838 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1082,998,182 - 83,018,694 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1087,946,204 - 87,966,793 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01087,444,288 - 87,464,877 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01082,836,918 - 82,857,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01085,954,138 - 85,974,764 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1085,954,138 - 85,974,651 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01085,742,631 - 85,763,268 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41086,764,283 - 86,784,791 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11086,778,652 - 86,799,161 (-)NCBI
Celera1081,751,498 - 81,772,006 (-)NCBICelera
Cytogenetic Map10q31NCBI
Cacnb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545114,038,668 - 14,059,848 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545114,041,848 - 14,059,740 (-)NCBIChiLan1.0ChiLan1.0
CACNB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21925,740,744 - 25,765,311 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11727,634,877 - 27,659,438 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01718,073,818 - 18,098,400 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11718,349,146 - 18,373,338 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1718,349,146 - 18,373,338 (+)Ensemblpanpan1.1panPan2
CACNB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1923,182,407 - 23,197,035 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl923,180,554 - 23,195,673 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha922,649,781 - 22,668,495 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0923,972,610 - 23,991,331 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl923,972,594 - 23,991,326 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1922,744,505 - 22,763,217 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0923,005,588 - 23,024,294 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0923,130,733 - 23,149,448 (+)NCBIUU_Cfam_GSD_1.0
Cacnb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560222,606,360 - 22,626,845 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649014,448,258 - 14,468,785 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649014,448,305 - 14,468,785 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1223,037,810 - 23,060,490 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11223,038,185 - 23,060,504 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21223,491,054 - 23,513,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11666,971,379 - 66,994,031 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1666,971,459 - 66,996,095 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607737,916,094 - 37,941,343 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacnb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247953,732,320 - 3,747,717 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247953,732,201 - 3,747,731 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNB1
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_000723.4(CACNB1):c.249G>A (p.Lys83=) single nucleotide variant Malignant melanoma [RCV000071433] Chr17:39191516 [GRCh38]
Chr17:37347769 [GRCh37]
Chr17:34601295 [NCBI36]
Chr17:17q12		 not provided
GRCh38/hg38 17q12(chr17:39036037-39694679)x3 copy number gain See cases [RCV000140753] Chr17:39036037..39694679 [GRCh38]
Chr17:37192290..37850932 [GRCh37]
Chr17:34445816..35104458 [NCBI36]
Chr17:17q12		 likely benign|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000723.5(CACNB1):c.649-4C>A single nucleotide variant not specified [RCV000238994] Chr17:39184868 [GRCh38]
Chr17:37341121 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000723.5(CACNB1):c.1591G>T (p.Gly531Trp) single nucleotide variant not specified [RCV004317415] Chr17:39175399 [GRCh38]
Chr17:37331652 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:37313691-37868516)x3 copy number gain See cases [RCV000512247] Chr17:37313691..37868516 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:36972794-38033708)x4 copy number gain not provided [RCV000683933] Chr17:36972794..38033708 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000723.5(CACNB1):c.1392C>T (p.Ser464=) single nucleotide variant not provided [RCV000967452] Chr17:39175598 [GRCh38]
Chr17:37331851 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
GRCh37/hg19 17q12(chr17:37190609-37868002)x3 copy number gain not provided [RCV000849616] Chr17:37190609..37868002 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1219G>A (p.Ala407Thr) single nucleotide variant not specified [RCV004309963] Chr17:39177463 [GRCh38]
Chr17:37333716 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.730G>T (p.Val244Phe) single nucleotide variant not provided [RCV000996528] Chr17:39184383 [GRCh38]
Chr17:37340636 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1461G>A (p.Arg487=) single nucleotide variant not provided [RCV000961485] Chr17:39175529 [GRCh38]
Chr17:37331782 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17q12(chr17:37323328-37551861)x3 copy number gain not provided [RCV001006900] Chr17:37323328..37551861 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1195G>A (p.Glu399Lys) single nucleotide variant not specified [RCV004162597] Chr17:39177487 [GRCh38]
Chr17:37333740 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.239C>G (p.Ala80Gly) single nucleotide variant not specified [RCV004196909] Chr17:39191526 [GRCh38]
Chr17:37347779 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1600G>A (p.Asp534Asn) single nucleotide variant not specified [RCV004134925] Chr17:39175390 [GRCh38]
Chr17:37331643 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.656A>G (p.His219Arg) single nucleotide variant not specified [RCV004124534] Chr17:39184857 [GRCh38]
Chr17:37341110 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1667A>G (p.Glu556Gly) single nucleotide variant not specified [RCV004134705] Chr17:39175323 [GRCh38]
Chr17:37331576 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.988G>A (p.Ala330Thr) single nucleotide variant not specified [RCV004222025] Chr17:39183775 [GRCh38]
Chr17:37340028 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.662C>T (p.Pro221Leu) single nucleotide variant not specified [RCV004261795] Chr17:39184851 [GRCh38]
Chr17:37341104 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1141C>A (p.Pro381Thr) single nucleotide variant not specified [RCV004267174] Chr17:39177989 [GRCh38]
Chr17:37334242 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1643G>T (p.Trp548Leu) single nucleotide variant not specified [RCV004277547] Chr17:39175347 [GRCh38]
Chr17:37331600 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.63G>A (p.Glu21=) single nucleotide variant not provided [RCV003419716] Chr17:39197433 [GRCh38]
Chr17:37353686 [GRCh37]
Chr17:17q12		 likely benign
NM_000723.5(CACNB1):c.1116G>A (p.Ala372=) single nucleotide variant not provided [RCV003428250] Chr17:39178014 [GRCh38]
Chr17:37334267 [GRCh37]
Chr17:17q12		 likely benign
NM_000723.5(CACNB1):c.1431C>A (p.Gly477=) single nucleotide variant not provided [RCV003413214] Chr17:39175559 [GRCh38]
Chr17:37331812 [GRCh37]
Chr17:17q12		 likely benign
NM_000723.5(CACNB1):c.628+426C>T single nucleotide variant not provided [RCV003413215] Chr17:39186070 [GRCh38]
Chr17:37342323 [GRCh37]
Chr17:17q12		 likely benign
NM_000723.5(CACNB1):c.1378G>A (p.Gly460Arg) single nucleotide variant not specified [RCV004432346] Chr17:39175612 [GRCh38]
Chr17:37331865 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.596C>T (p.Thr199Ile) single nucleotide variant not specified [RCV004432349] Chr17:39186528 [GRCh38]
Chr17:37342781 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1288A>G (p.Thr430Ala) single nucleotide variant not specified [RCV004432345] Chr17:39177394 [GRCh38]
Chr17:37333647 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1769G>A (p.Gly590Asp) single nucleotide variant not specified [RCV004432347] Chr17:39175221 [GRCh38]
Chr17:37331474 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.698T>C (p.Ile233Thr) single nucleotide variant not specified [RCV004432350] Chr17:39184815 [GRCh38]
Chr17:37341068 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.70G>A (p.Asp24Asn) single nucleotide variant not specified [RCV004432351] Chr17:39197426 [GRCh38]
Chr17:37353679 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.847A>C (p.Asn283His) single nucleotide variant not specified [RCV004606287] Chr17:39184082 [GRCh38]
Chr17:37340335 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.833G>A (p.Arg278His) single nucleotide variant not specified [RCV004606285] Chr17:39184096 [GRCh38]
Chr17:37340349 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.353A>G (p.Glu118Gly) single nucleotide variant not specified [RCV004606286] Chr17:39187540 [GRCh38]
Chr17:37343793 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
NM_000723.5(CACNB1):c.530G>A (p.Arg177His) single nucleotide variant not specified [RCV004432348] Chr17:39186814 [GRCh38]
Chr17:37343067 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1234A>G (p.Thr412Ala) single nucleotide variant not specified [RCV004265295] Chr17:39177448 [GRCh38]
Chr17:37333701 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1602C>A (p.Asp534Glu) single nucleotide variant not specified [RCV004302087] Chr17:39175388 [GRCh38]
Chr17:37331641 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1687C>T (p.Arg563Trp) single nucleotide variant not specified [RCV004352676] Chr17:39175303 [GRCh38]
Chr17:37331556 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.439G>A (p.Gly147Arg) single nucleotide variant not specified [RCV004352744] Chr17:39186905 [GRCh38]
Chr17:37343158 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000723.5(CACNB1):c.1217A>T (p.Glu406Val) single nucleotide variant not specified [RCV004432344] Chr17:39177465 [GRCh38]
Chr17:37333718 [GRCh37]
Chr17:17q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4365
Count of miRNA genes:1103
Interacting mature miRNAs:1408
Transcripts:ENST00000344140, ENST00000394303, ENST00000394310, ENST00000492737, ENST00000536613, ENST00000539338, ENST00000577582, ENST00000577926, ENST00000582414, ENST00000582544, ENST00000582877
Prediction methods:Miranda, Pita, 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
407278514GWAS927490_Hnon-lobar intracerebral hemorrhage QTL GWAS927490 (human)0.000003non-lobar intracerebral hemorrhage173917474239174743Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407125374GWAS774350_Hserum IgG glycosylation measurement QTL GWAS774350 (human)0.000004serum IgG glycosylation measurement173917509239175093Human
407125370GWAS774346_Hserum IgG glycosylation measurement QTL GWAS774346 (human)0.000002serum IgG glycosylation measurement173917671039176711Human

Markers in Region
D17S1655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,330,613 - 37,330,855UniSTSGRCh37
Build 361734,584,139 - 34,584,381RGDNCBI36
Celera1733,991,521 - 33,991,763RGD
Cytogenetic Map17q21-q22UniSTS
HuRef1733,126,074 - 33,126,316UniSTS
RH12690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,330,139 - 37,330,266UniSTSGRCh37
Build 361734,583,665 - 34,583,792RGDNCBI36
Celera1733,991,047 - 33,991,174RGD
Cytogenetic Map17q21-q22UniSTS
GeneMap99-GB4 RH Map17307.34UniSTS
NCBI RH Map17462.8UniSTS
WI-7808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,330,459 - 37,330,808UniSTSGRCh37
Build 361734,583,985 - 34,584,334RGDNCBI36
Celera1733,991,367 - 33,991,716RGD
Cytogenetic Map17q21-q22UniSTS
HuRef1733,125,920 - 33,126,269UniSTS
GeneMap99-GB4 RH Map17317.6UniSTS
Whitehead-RH Map17338.6UniSTS
NCBI RH Map17446.6UniSTS
RH71354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,333,437 - 37,333,580UniSTSGRCh37
Build 361734,586,963 - 34,587,106RGDNCBI36
Celera1733,994,345 - 33,994,488RGD
Cytogenetic Map17q21-q22UniSTS
HuRef1733,128,898 - 33,129,041UniSTS
GeneMap99-GB4 RH Map17307.04UniSTS
NCBI RH Map17464.7UniSTS
CACNB1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,333,766 - 37,334,302UniSTSGRCh37
Celera1733,994,674 - 33,995,210UniSTS
HuRef1733,129,227 - 33,129,763UniSTS
G73122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,340,313 - 37,341,097UniSTSGRCh37
Celera1734,001,217 - 34,002,001UniSTS
Cytogenetic Map17q21-q22UniSTS
HuRef1733,135,762 - 33,136,546UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4973 1722 2346 5 620 1945 461 2269 7296 6466 51 3734 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA694045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB054985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP217857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M92301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M92302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M92303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z21725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z21726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000344140   ⟹   ENSP00000345461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,177,136 - 39,197,669 (-)Ensembl
Ensembl Acc Id: ENST00000394303   ⟹   ENSP00000377840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,173,453 - 39,197,669 (-)Ensembl
Ensembl Acc Id: ENST00000394310   ⟹   ENSP00000377847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,177,136 - 39,197,702 (-)Ensembl
Ensembl Acc Id: ENST00000492737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,186,542 - 39,193,824 (-)Ensembl
Ensembl Acc Id: ENST00000536613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,186,423 - 39,193,493 (-)Ensembl
Ensembl Acc Id: ENST00000539338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,173,801 - 39,193,883 (-)Ensembl
Ensembl Acc Id: ENST00000577582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,184,325 - 39,187,439 (-)Ensembl
Ensembl Acc Id: ENST00000577926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,192,024 - 39,195,269 (-)Ensembl
Ensembl Acc Id: ENST00000582414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,191,615 - 39,193,493 (-)Ensembl
Ensembl Acc Id: ENST00000582544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,177,417 - 39,178,270 (-)Ensembl
Ensembl Acc Id: ENST00000582877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,186,542 - 39,195,071 (-)Ensembl
Ensembl Acc Id: ENST00000622445   ⟹   ENSP00000477612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,173,456 - 39,197,703 (-)Ensembl
RefSeq Acc Id: NM_000723   ⟹   NP_000714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,173,453 - 39,197,669 (-)NCBI
GRCh371737,329,709 - 37,353,956 (-)NCBI
Build 361734,583,235 - 34,607,427 (-)NCBI Archive
HuRef1733,125,170 - 33,149,131 (-)NCBI
CHM1_11737,565,987 - 37,590,231 (-)NCBI
T2T-CHM13v2.01740,037,330 - 40,061,546 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199247   ⟹   NP_954855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,177,136 - 39,197,669 (-)NCBI
GRCh371737,329,709 - 37,353,956 (-)NCBI
Build 361734,586,915 - 34,607,427 (-)NCBI Archive
HuRef1733,125,170 - 33,149,131 (-)NCBI
CHM1_11737,569,665 - 37,590,231 (-)NCBI
T2T-CHM13v2.01740,041,013 - 40,061,546 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199248   ⟹   NP_954856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,177,136 - 39,197,669 (-)NCBI
GRCh371737,329,709 - 37,353,956 (-)NCBI
Build 361734,586,915 - 34,607,427 (-)NCBI Archive
HuRef1733,125,170 - 33,149,131 (-)NCBI
CHM1_11737,569,665 - 37,590,231 (-)NCBI
T2T-CHM13v2.01740,041,013 - 40,061,546 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257645   ⟹   XP_005257702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,173,453 - 39,197,669 (-)NCBI
GRCh371737,329,709 - 37,353,956 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257646   ⟹   XP_005257703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,182,641 - 39,197,669 (-)NCBI
GRCh371737,329,709 - 37,353,956 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722072   ⟹   XP_006722135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,173,453 - 39,193,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025024   ⟹   XP_016880513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,173,453 - 39,193,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025025   ⟹   XP_016880514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,173,453 - 39,193,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436675   ⟹   XP_047292631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,173,453 - 39,186,572 (-)NCBI
RefSeq Acc Id: XM_054317086   ⟹   XP_054173061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,037,330 - 40,061,546 (-)NCBI
RefSeq Acc Id: XM_054317087   ⟹   XP_054173062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,037,330 - 40,057,476 (-)NCBI
RefSeq Acc Id: XM_054317088   ⟹   XP_054173063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,037,330 - 40,057,474 (-)NCBI
RefSeq Acc Id: XM_054317089   ⟹   XP_054173064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,046,518 - 40,061,546 (-)NCBI
RefSeq Acc Id: XM_054317090   ⟹   XP_054173065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,037,330 - 40,050,449 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000714 (Get FASTA)   NCBI Sequence Viewer  
  NP_954855 (Get FASTA)   NCBI Sequence Viewer  
  NP_954856 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257702 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257703 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722135 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880513 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292631 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173065 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35631 (Get FASTA)   NCBI Sequence Viewer  
  AAA35632 (Get FASTA)   NCBI Sequence Viewer  
  AAA35633 (Get FASTA)   NCBI Sequence Viewer  
  AAA36167 (Get FASTA)   NCBI Sequence Viewer  
  AAA36168 (Get FASTA)   NCBI Sequence Viewer  
  AAA36169 (Get FASTA)   NCBI Sequence Viewer  
  AAA51894 (Get FASTA)   NCBI Sequence Viewer  
  AAB58779 (Get FASTA)   NCBI Sequence Viewer  
  AAB58780 (Get FASTA)   NCBI Sequence Viewer  
  AAB58781 (Get FASTA)   NCBI Sequence Viewer  
  AAH37311 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97605 (Get FASTA)   NCBI Sequence Viewer  
  BAB21444 (Get FASTA)   NCBI Sequence Viewer  
  BAD92413 (Get FASTA)   NCBI Sequence Viewer  
  BAF82418 (Get FASTA)   NCBI Sequence Viewer  
  BAG54473 (Get FASTA)   NCBI Sequence Viewer  
  BAH12640 (Get FASTA)   NCBI Sequence Viewer  
  BAH13323 (Get FASTA)   NCBI Sequence Viewer  
  CAA79824 (Get FASTA)   NCBI Sequence Viewer  
  CAA79825 (Get FASTA)   NCBI Sequence Viewer  
  EAW60556 (Get FASTA)   NCBI Sequence Viewer  
  EAW60557 (Get FASTA)   NCBI Sequence Viewer  
  EAW60558 (Get FASTA)   NCBI Sequence Viewer  
  EAW60559 (Get FASTA)   NCBI Sequence Viewer  
  EAW60560 (Get FASTA)   NCBI Sequence Viewer  
  EAW60561 (Get FASTA)   NCBI Sequence Viewer  
  EAW60562 (Get FASTA)   NCBI Sequence Viewer  
  EAW60563 (Get FASTA)   NCBI Sequence Viewer  
  EAW60564 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345461
  ENSP00000345461.5
  ENSP00000377840
  ENSP00000377840.3
  ENSP00000377847
  ENSP00000377847.3
GenBank Protein Q02641 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000714   ⟸   NM_000723
- Peptide Label: isoform 1
- UniProtKB: Q9C085 (UniProtKB/Swiss-Prot),   Q8N3X9 (UniProtKB/Swiss-Prot),   Q02640 (UniProtKB/Swiss-Prot),   Q02639 (UniProtKB/Swiss-Prot),   O15331 (UniProtKB/Swiss-Prot),   A8K114 (UniProtKB/Swiss-Prot),   Q9UD79 (UniProtKB/Swiss-Prot),   Q02641 (UniProtKB/Swiss-Prot),   Q59GD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_954856   ⟸   NM_199248
- Peptide Label: isoform 3
- UniProtKB: B7Z6N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_954855   ⟸   NM_199247
- Peptide Label: isoform 2
- UniProtKB: B7Z6N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257702   ⟸   XM_005257645
- Peptide Label: isoform X1
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257703   ⟸   XM_005257646
- Peptide Label: isoform X4
- UniProtKB: B7Z4Q4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722135   ⟸   XM_006722072
- Peptide Label: isoform X2
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880514   ⟸   XM_017025025
- Peptide Label: isoform X3
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880513   ⟸   XM_017025024
- Peptide Label: isoform X6
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000477612   ⟸   ENST00000622445
Ensembl Acc Id: ENSP00000377840   ⟸   ENST00000394303
Ensembl Acc Id: ENSP00000377847   ⟸   ENST00000394310
Ensembl Acc Id: ENSP00000345461   ⟸   ENST00000344140
RefSeq Acc Id: XP_047292631   ⟸   XM_047436675
- Peptide Label: isoform X5
- UniProtKB: B3KXG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173061   ⟸   XM_054317086
- Peptide Label: isoform X1
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173062   ⟸   XM_054317087
- Peptide Label: isoform X2
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173063   ⟸   XM_054317088
- Peptide Label: isoform X3
- UniProtKB: Q59GD3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173065   ⟸   XM_054317090
- Peptide Label: isoform X5
- UniProtKB: B3KXG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173064   ⟸   XM_054317089
- Peptide Label: isoform X4
- UniProtKB: B7Z4Q4 (UniProtKB/TrEMBL)
Protein Domains
Guanylate kinase/L-type calcium channel beta   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02641-F1-model_v2 AlphaFold Q02641 1-598 view protein structure

Promoters
RGD ID:6793830
Promoter ID:HG_KWN:25980
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000201943,   ENST00000394310,   NM_199248,   OTTHUMT00000256946,   UC002HRP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361734,607,141 - 34,607,641 (-)MPROMDB
RGD ID:7234817
Promoter ID:EPDNEW_H23154
Type:initiation region
Name:CACNB1_1
Description:calcium voltage-gated channel auxiliary subunit beta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23157  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,197,669 - 39,197,729EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1401 AgrOrtholog
COSMIC CACNB1 COSMIC
Ensembl Genes ENSG00000067191 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344140 ENTREZGENE
  ENST00000344140.6 UniProtKB/Swiss-Prot
  ENST00000394303 ENTREZGENE
  ENST00000394303.8 UniProtKB/Swiss-Prot
  ENST00000394310 ENTREZGENE
  ENST00000394310.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067191 GTEx
HGNC ID HGNC:1401 ENTREZGENE
Human Proteome Map CACNB1 Human Proteome Map
InterPro CAB1-4_N_A-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_L_b1su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_L_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:782 UniProtKB/Swiss-Prot
NCBI Gene 782 ENTREZGENE
OMIM 114207 OMIM
PANTHER VOLTAGE-DEPENDENT CALCIUM CHANNEL BETA SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT L-TYPE CALCIUM CHANNEL SUBUNIT BETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VGCC_beta4Aa_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA87 PharmGKB
PRINTS LCACHANNELB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LCACHANNELB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP P-loop containing nucleoside triphosphate hydrolases UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot
UniProt A8K114 ENTREZGENE
  B3KXG1 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4Q4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6N7 ENTREZGENE, UniProtKB/TrEMBL
  CACB1_HUMAN UniProtKB/Swiss-Prot
  O15331 ENTREZGENE
  Q02639 ENTREZGENE
  Q02640 ENTREZGENE
  Q02641 ENTREZGENE
  Q59GD3 ENTREZGENE, UniProtKB/TrEMBL
  Q6TME4_HUMAN UniProtKB/TrEMBL
  Q8N3X9 ENTREZGENE
  Q9C085 ENTREZGENE
  Q9UD79 ENTREZGENE
UniProt Secondary A8K114 UniProtKB/Swiss-Prot
  O15331 UniProtKB/Swiss-Prot
  Q02639 UniProtKB/Swiss-Prot
  Q02640 UniProtKB/Swiss-Prot
  Q8N3X9 UniProtKB/Swiss-Prot
  Q9C085 UniProtKB/Swiss-Prot
  Q9UD79 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNB1  calcium voltage-gated channel auxiliary subunit beta 1  CACNB1  calcium channel, voltage-dependent, beta 1 subunit  Symbol and/or name change 5135510 APPROVED