CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3) - Rat Genome Database

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Gene: CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3) Homo sapiens
Analyze
Symbol: CACNA2D3
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 3
RGD ID: 1349571
HGNC Page HGNC
Description: Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and regulation of ion transmembrane transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be part of voltage-gated calcium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium channel alpha2-delta3 subunit; calcium channel, voltage-dependent, alpha 2/delta 3 subunit; calcium channel, voltage-dependent, alpha 2/delta subunit 3; HSA272268; voltage-dependent calcium channel subunit alpha-2/delta-3; voltage-gated calcium channel subunit alpha-2/delta-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh38354,122,552 - 55,074,557 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl354,122,547 - 55,074,557 (+)EnsemblGRCh38hg38GRCh38
GRCh37354,156,579 - 55,108,584 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36354,131,733 - 55,083,624 (+)NCBINCBI36hg18NCBI36
Build 34354,131,732 - 55,083,622NCBI
Celera354,123,406 - 55,075,102 (+)NCBI
Cytogenetic Map3p21.1-p14.3NCBI
HuRef354,205,841 - 55,158,072 (+)NCBIHuRef
CHM1_1354,108,246 - 55,059,854 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:10737800   PMID:11245980   PMID:11329013   PMID:12181424   PMID:12477932   PMID:17937436   PMID:18519826   PMID:18588891   PMID:19240061   PMID:20379614   PMID:20889312   PMID:21074052  
PMID:21873635   PMID:22395973   PMID:22542470   PMID:22644305   PMID:23324578   PMID:23560067   PMID:23649311   PMID:23870195   PMID:24096698   PMID:24315451   PMID:24375517   PMID:26460247  
PMID:27583705   PMID:29122566   PMID:30021884   PMID:31378653   PMID:31746409   PMID:31829940   PMID:33961781  


Genomics

Comparative Map Data
CACNA2D3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38354,122,552 - 55,074,557 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl354,122,547 - 55,074,557 (+)EnsemblGRCh38hg38GRCh38
GRCh37354,156,579 - 55,108,584 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36354,131,733 - 55,083,624 (+)NCBINCBI36hg18NCBI36
Build 34354,131,732 - 55,083,622NCBI
Celera354,123,406 - 55,075,102 (+)NCBI
Cytogenetic Map3p21.1-p14.3NCBI
HuRef354,205,841 - 55,158,072 (+)NCBIHuRef
CHM1_1354,108,246 - 55,059,854 (+)NCBICHM1_1
Cacna2d3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391428,626,900 - 29,444,732 (-)NCBIGRCm39mm39
GRCm39 Ensembl1428,626,900 - 29,443,821 (-)Ensembl
GRCm381428,904,943 - 29,722,775 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1428,904,943 - 29,721,864 (-)EnsemblGRCm38mm10GRCm38
MGSCv371429,718,129 - 30,535,050 (-)NCBIGRCm37mm9NCBIm37
MGSCv361427,731,954 - 28,548,875 (-)NCBImm8
Celera1425,158,028 - 25,975,723 (-)NCBICelera
Cytogenetic Map14A3NCBI
Cacna2d3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2164,098,439 - 4,912,498 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl164,098,445 - 4,912,351 (-)Ensembl
Rnor_6.0164,871,348 - 5,795,825 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl164,871,650 - 5,795,825 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0164,812,761 - 5,730,476 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4164,173,412 - 5,059,574 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1164,173,409 - 4,856,843 (-)NCBI
Celera1610,267,421 - 11,074,133 (+)NCBICelera
Cytogenetic Map16p16NCBI
Cacna2d3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554304,091,272 - 4,939,967 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554304,091,308 - 4,939,899 (+)NCBIChiLan1.0ChiLan1.0
CACNA2D3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1355,282,940 - 56,234,050 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl355,282,935 - 56,233,723 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0354,061,565 - 55,012,985 (+)NCBIMhudiblu_PPA_v0panPan3
CACNA2D3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12035,097,185 - 36,043,562 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2035,097,182 - 35,956,774 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2035,028,187 - 35,974,772 (-)NCBI
ROS_Cfam_1.02035,371,704 - 36,317,653 (-)NCBI
ROS_Cfam_1.0 Ensembl2035,371,705 - 36,204,746 (-)Ensembl
UMICH_Zoey_3.12034,813,915 - 35,646,853 (-)NCBI
UNSW_CanFamBas_1.02035,172,910 - 36,118,982 (-)NCBI
UU_Cfam_GSD_1.02035,388,688 - 36,335,412 (-)NCBI
Cacna2d3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118171,617,423 - 172,496,330 (+)NCBI
SpeTri2.0NW_0049364734,757,797 - 5,634,896 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA2D3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1336,222,295 - 37,019,804 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11336,222,295 - 37,025,119 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21340,167,102 - 40,325,457 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA2D3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12215,506,289 - 16,433,892 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2215,700,522 - 16,433,899 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041150,452,156 - 151,384,152 (-)NCBIVero_WHO_p1.0
Cacna2d3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248222,218,675 - 3,080,874 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D3S1236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,473,318 - 54,473,388UniSTSGRCh37
Build 36354,448,358 - 54,448,428RGDNCBI36
Celera354,440,177 - 54,440,247RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,522,241 - 54,522,311UniSTS
Marshfield Genetic Map377.01RGD
Marshfield Genetic Map377.01UniSTS
deCODE Assembly Map373.73UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,960,405 - 54,960,653UniSTSGRCh37
Build 36354,935,445 - 54,935,693RGDNCBI36
Celera354,926,536 - 54,926,784RGD
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map3p21.1UniSTS
HuRef355,009,855 - 55,010,107UniSTS
Marshfield Genetic Map372.21RGD
Marshfield Genetic Map372.21UniSTS
Genethon Genetic Map369.6UniSTS
deCODE Assembly Map375.18UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,479,480 - 54,479,645UniSTSGRCh37
GRCh37354,479,478 - 54,479,678UniSTSGRCh37
Build 36354,454,518 - 54,454,718RGDNCBI36
Celera354,446,339 - 54,446,516UniSTS
Celera354,446,337 - 54,446,549RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,528,401 - 54,528,617UniSTS
HuRef354,528,403 - 54,528,584UniSTS
Marshfield Genetic Map371.41UniSTS
Marshfield Genetic Map371.41RGD
Genethon Genetic Map369.1UniSTS
TNG Radiation Hybrid Map333903.0UniSTS
deCODE Assembly Map373.73UniSTS
Stanford-G3 RH Map32465.0UniSTS
GeneMap99-GB4 RH Map3179.18UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3494.1UniSTS
GeneMap99-G3 RH Map32363.0UniSTS
D3S3666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,652,343 - 54,652,459UniSTSGRCh37
Build 36354,627,383 - 54,627,499RGDNCBI36
Celera354,618,932 - 54,619,048RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,701,154 - 54,701,284UniSTS
Marshfield Genetic Map372.21RGD
Marshfield Genetic Map372.21UniSTS
Genethon Genetic Map369.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,925,129 - 54,925,322UniSTSGRCh37
Build 36354,900,169 - 54,900,362RGDNCBI36
Celera354,891,258 - 54,891,453RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,974,578 - 54,974,773UniSTS
Marshfield Genetic Map372.21RGD
Marshfield Genetic Map372.21UniSTS
Genethon Genetic Map369.6UniSTS
deCODE Assembly Map374.65UniSTS
Whitehead-YAC Contig Map3 UniSTS
GeneMap99-G3 RH Map32367.0UniSTS
D3S3672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,716,105 - 54,716,244UniSTSGRCh37
Build 36354,691,145 - 54,691,284RGDNCBI36
Celera354,682,697 - 54,682,836RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,765,750 - 54,765,883UniSTS
Marshfield Genetic Map372.21RGD
Marshfield Genetic Map372.21UniSTS
Genethon Genetic Map369.6UniSTS
deCODE Assembly Map374.53UniSTS
Stanford-G3 RH Map32461.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
GeneMap99-G3 RH Map32359.0UniSTS
D3S1582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,695,817 - 54,695,955UniSTSGRCh37
GRCh37354,695,830 - 54,696,004UniSTSGRCh37
Build 36354,670,870 - 54,671,044RGDNCBI36
Celera354,662,430 - 54,662,604RGD
Celera354,662,417 - 54,662,555UniSTS
Cytogenetic Map3p21.1UniSTS
HuRef354,745,504 - 54,745,660UniSTS
HuRef354,745,491 - 54,745,611UniSTS
Marshfield Genetic Map372.21RGD
Marshfield Genetic Map372.21UniSTS
Genethon Genetic Map369.6UniSTS
TNG Radiation Hybrid Map333992.0UniSTS
Stanford-G3 RH Map32457.0UniSTS
GeneMap99-GB4 RH Map3175.53UniSTS
Whitehead-RH Map3216.5UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3508.8UniSTS
GeneMap99-G3 RH Map32355.0UniSTS
SHGC-77015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,685,297 - 54,685,439UniSTSGRCh37
Build 36354,660,337 - 54,660,479RGDNCBI36
Celera354,651,896 - 54,652,038RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,734,970 - 54,735,112UniSTS
TNG Radiation Hybrid Map334040.0UniSTS
GeneMap99-GB4 RH Map3175.12UniSTS
Whitehead-RH Map3216.3UniSTS
NCBI RH Map3510.9UniSTS
STS-AA101173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,662,795 - 54,663,019UniSTSGRCh37
Build 36354,637,835 - 54,638,059RGDNCBI36
Celera354,629,381 - 54,629,605RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,711,616 - 54,711,840UniSTS
GeneMap99-GB4 RH Map3174.91UniSTS
NCBI RH Map3494.1UniSTS
WI-21592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,108,341 - 55,108,540UniSTSGRCh37
Build 36355,083,381 - 55,083,580RGDNCBI36
Celera355,074,859 - 55,075,058RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,157,829 - 55,158,028UniSTS
GeneMap99-GB4 RH Map3189.96UniSTS
Whitehead-RH Map3233.2UniSTS
NCBI RH Map3512.1UniSTS
A009K48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,108,372 - 55,108,486UniSTSGRCh37
Build 36355,083,412 - 55,083,526RGDNCBI36
Celera355,074,890 - 55,075,004RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,157,860 - 55,157,974UniSTS
GeneMap99-GB4 RH Map3187.48UniSTS
NCBI RH Map3512.4UniSTS
RH26835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,108,420 - 55,108,509UniSTSGRCh37
Build 36355,083,460 - 55,083,549RGDNCBI36
Celera355,074,938 - 55,075,027RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,157,908 - 55,157,997UniSTS
RH103162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,662,791 - 54,662,966UniSTSGRCh37
Build 36354,637,831 - 54,638,006RGDNCBI36
Celera354,629,377 - 54,629,552RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,711,612 - 54,711,787UniSTS
GeneMap99-GB4 RH Map3176.05UniSTS
RH104141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,816,575 - 54,816,715UniSTSGRCh37
Build 36354,791,615 - 54,791,755RGDNCBI36
Celera354,783,015 - 54,783,155RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,866,094 - 54,866,234UniSTS
GeneMap99-GB4 RH Map3174.91UniSTS
SHGC-80609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,892,106 - 54,892,385UniSTSGRCh37
Build 36354,867,146 - 54,867,425RGDNCBI36
Celera354,858,232 - 54,858,511RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,941,618 - 54,941,897UniSTS
TNG Radiation Hybrid Map334163.0UniSTS
RH120956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,333,388 - 54,333,659UniSTSGRCh37
Build 36354,308,428 - 54,308,699RGDNCBI36
Celera354,300,045 - 54,300,316RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,382,476 - 54,382,747UniSTS
TNG Radiation Hybrid Map333846.0UniSTS
RH122858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,213,019 - 54,213,317UniSTSGRCh37
Build 36354,188,059 - 54,188,357RGDNCBI36
Celera354,179,750 - 54,180,048RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,262,150 - 54,262,448UniSTS
TNG Radiation Hybrid Map333812.0UniSTS
RH122935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,383,544 - 54,383,882UniSTSGRCh37
Build 36354,358,584 - 54,358,922RGDNCBI36
Celera354,350,380 - 54,350,718RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,432,614 - 54,432,952UniSTS
TNG Radiation Hybrid Map333866.0UniSTS
RH122293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,001,643 - 55,001,960UniSTSGRCh37
Build 36354,976,683 - 54,977,000RGDNCBI36
Celera354,967,774 - 54,968,091RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,051,131 - 55,051,448UniSTS
TNG Radiation Hybrid Map334233.0UniSTS
D3S1241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,479,481 - 54,479,677UniSTSGRCh37
Build 36354,454,521 - 54,454,717RGDNCBI36
Celera354,446,340 - 54,446,548RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,528,404 - 54,528,616UniSTS
D3S717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,458,062 - 54,458,189UniSTSGRCh37
Build 36354,433,102 - 54,433,229RGDNCBI36
Celera354,424,921 - 54,425,048RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,506,984 - 54,507,111UniSTS
D3S1447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,893,936 - 54,894,059UniSTSGRCh37
Build 36354,868,976 - 54,869,099RGDNCBI36
Celera354,860,062 - 54,860,187RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,943,448 - 54,943,573UniSTS
D3S2567E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,019,177 - 55,019,346UniSTSGRCh37
Build 36354,994,217 - 54,994,386RGDNCBI36
Celera354,985,708 - 54,985,877RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,068,673 - 55,068,842UniSTS
SHGC-105280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,633,224 - 54,633,502UniSTSGRCh37
Build 36354,608,264 - 54,608,542RGDNCBI36
Celera354,599,814 - 54,600,092RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,682,036 - 54,682,314UniSTS
TNG Radiation Hybrid Map333975.0UniSTS
SHGC-105801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,894,352 - 54,894,625UniSTSGRCh37
Build 36354,869,392 - 54,869,665RGDNCBI36
Celera354,860,480 - 54,860,753RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,943,866 - 54,944,139UniSTS
TNG Radiation Hybrid Map334167.0UniSTS
SHGC-106008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,065,619 - 55,065,891UniSTSGRCh37
Build 36355,040,659 - 55,040,931RGDNCBI36
Celera355,032,145 - 55,032,417RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,115,117 - 55,115,389UniSTS
TNG Radiation Hybrid Map334258.0UniSTS
SHGC-150991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,925,045 - 54,925,354UniSTSGRCh37
Build 36354,900,085 - 54,900,394RGDNCBI36
Celera354,891,174 - 54,891,485RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,974,494 - 54,974,805UniSTS
TNG Radiation Hybrid Map334198.0UniSTS
TNG Radiation Hybrid Map1110685.0UniSTS
SHGC-150992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,716,016 - 54,716,289UniSTSGRCh37
Build 36354,691,056 - 54,691,329RGDNCBI36
Celera354,682,608 - 54,682,881RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,765,661 - 54,765,928UniSTS
TNG Radiation Hybrid Map334010.0UniSTS
SHGC-146684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,380,922 - 54,381,232UniSTSGRCh37
Build 36354,355,962 - 54,356,272RGDNCBI36
Celera354,347,758 - 54,348,068RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,429,992 - 54,430,302UniSTS
TNG Radiation Hybrid Map333866.0UniSTS
SHGC-147153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,884,420 - 54,884,715UniSTSGRCh37
Build 36354,859,460 - 54,859,755RGDNCBI36
Celera354,850,546 - 54,850,841RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,933,932 - 54,934,227UniSTS
TNG Radiation Hybrid Map334149.0UniSTS
SHGC-149832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,822,313 - 54,822,658UniSTSGRCh37
Build 36354,797,353 - 54,797,698RGDNCBI36
Celera354,788,753 - 54,789,098RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,871,832 - 54,872,177UniSTS
TNG Radiation Hybrid Map334120.0UniSTS
SHGC-111457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,179,028 - 54,179,313UniSTSGRCh37
Build 36354,154,068 - 54,154,353RGDNCBI36
Celera354,145,741 - 54,146,026RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,228,172 - 54,228,457UniSTS
TNG Radiation Hybrid Map333794.0UniSTS
SHGC-111488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,394,870 - 54,395,157UniSTSGRCh37
Build 36354,369,910 - 54,370,197RGDNCBI36
Celera354,361,702 - 54,361,989RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,443,939 - 54,444,226UniSTS
TNG Radiation Hybrid Map333856.0UniSTS
SHGC-155025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,253,868 - 54,254,214UniSTSGRCh37
Build 36354,228,908 - 54,229,254RGDNCBI36
Celera354,220,599 - 54,220,945RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,303,010 - 54,303,356UniSTS
TNG Radiation Hybrid Map333819.0UniSTS
SHGC-155305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,330,702 - 54,331,037UniSTSGRCh37
Build 36354,305,742 - 54,306,077RGDNCBI36
Celera354,297,358 - 54,297,693RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,379,789 - 54,380,124UniSTS
TNG Radiation Hybrid Map333846.0UniSTS
HT017__7511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,952,227 - 54,952,924UniSTSGRCh37
Build 36354,927,267 - 54,927,964RGDNCBI36
Celera354,918,358 - 54,919,055RGD
HuRef355,001,677 - 55,002,374UniSTS
D3S3080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,355,490 - 54,355,665UniSTSGRCh37
Build 36354,330,530 - 54,330,705RGDNCBI36
Celera354,322,114 - 54,322,289RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,404,551 - 54,404,726UniSTS
Whitehead-YAC Contig Map3 UniSTS
G16563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,706,379 - 54,706,539UniSTSGRCh37
Build 36354,681,419 - 54,681,579RGDNCBI36
Celera354,672,975 - 54,673,135RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,756,031 - 54,756,191UniSTS
D3S4050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,024,971 - 55,025,082UniSTSGRCh37
Build 36355,000,011 - 55,000,122RGDNCBI36
Celera354,991,502 - 54,991,613RGD
Cytogenetic Map3p21.1UniSTS
HuRef355,074,467 - 55,074,578UniSTS
RH65515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,666,217 - 54,666,352UniSTSGRCh37
Build 36354,641,257 - 54,641,392RGDNCBI36
Celera354,632,803 - 54,632,938RGD
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef354,715,040 - 54,715,175UniSTS
GeneMap99-GB4 RH Map3158.23UniSTS
RH78885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,952,449 - 54,952,621UniSTSGRCh37
Build 36354,927,489 - 54,927,661RGDNCBI36
Celera354,918,580 - 54,918,752RGD
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef355,001,899 - 55,002,071UniSTS
GeneMap99-GB4 RH Map3175.07UniSTS
AFMA048XB9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,567,723 - 54,567,988UniSTSGRCh37
Build 36354,542,763 - 54,543,028RGDNCBI36
Celera354,534,586 - 54,534,847RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,616,707 - 54,616,968UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S4145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37354,795,298 - 54,795,619UniSTSGRCh37
Build 36354,770,338 - 54,770,659RGDNCBI36
Celera354,761,744 - 54,762,065RGD
Cytogenetic Map3p21.1UniSTS
HuRef354,844,821 - 54,845,142UniSTS
Stanford-G3 RH Map32469.0UniSTS
NCBI RH Map3495.7UniSTS
G32633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,108,372 - 55,108,486UniSTSGRCh37
Celera355,074,890 - 55,075,004UniSTS
Cytogenetic Map3p21.1UniSTS
HuRef355,157,860 - 55,157,974UniSTS
D3S1582  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.1UniSTS
TNG Radiation Hybrid Map333992.0UniSTS
Stanford-G3 RH Map32457.0UniSTS
NCBI RH Map3493.4UniSTS
GeneMap99-G3 RH Map32355.0UniSTS
D3S1289  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.1UniSTS
TNG Radiation Hybrid Map333903.0UniSTS
Stanford-G3 RH Map32465.0UniSTS
GeneMap99-GB4 RH Map3179.18UniSTS
NCBI RH Map3494.1UniSTS
GeneMap99-G3 RH Map32363.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2030
Count of miRNA genes:895
Interacting mature miRNAs:1060
Transcripts:ENST00000288197, ENST00000415676, ENST00000468658, ENST00000471363, ENST00000471865, ENST00000474759, ENST00000477024, ENST00000478261, ENST00000478466, ENST00000490478, ENST00000492460
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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
High
Medium 11 307 47 4 19 4 153 195 1041 11 280 39 1 150
Low 2022 2169 1106 174 859 46 3937 1927 2617 331 1091 1428 130 1 1090 2521 4
Below cutoff 322 500 487 363 577 330 223 64 68 62 58 86 39 113 117

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC137673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF516696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW905454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE702896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE768691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG206136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG213431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI753834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288197   ⟹   ENSP00000288197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,122,666 - 55,074,553 (+)Ensembl
RefSeq Acc Id: ENST00000415676   ⟹   ENSP00000389506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,122,547 - 55,074,473 (+)Ensembl
RefSeq Acc Id: ENST00000468658   ⟹   ENSP00000417455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,197,371 - 54,885,586 (+)Ensembl
RefSeq Acc Id: ENST00000471363   ⟹   ENSP00000418228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,123,461 - 55,074,557 (+)Ensembl
RefSeq Acc Id: ENST00000471865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl355,007,776 - 55,074,203 (+)Ensembl
RefSeq Acc Id: ENST00000474759   ⟹   ENSP00000419101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,122,552 - 55,074,557 (+)Ensembl
RefSeq Acc Id: ENST00000477024   ⟹   ENSP00000417318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,123,479 - 54,888,024 (+)Ensembl
RefSeq Acc Id: ENST00000478261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,987,678 - 55,074,216 (+)Ensembl
RefSeq Acc Id: ENST00000478466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,272,774 - 54,320,541 (+)Ensembl
RefSeq Acc Id: ENST00000490478   ⟹   ENSP00000417279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,123,461 - 55,074,557 (+)Ensembl
RefSeq Acc Id: ENST00000492460   ⟹   ENSP00000418028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,177,796 - 54,562,915 (+)Ensembl
RefSeq Acc Id: ENST00000620722   ⟹   ENSP00000478969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl354,123,461 - 55,074,376 (+)Ensembl
RefSeq Acc Id: NM_018398   ⟹   NP_060868
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38354,122,552 - 55,074,557 (+)NCBI
GRCh37354,156,620 - 55,108,584 (+)NCBI
Build 36354,131,733 - 55,083,624 (+)NCBI Archive
Celera354,123,406 - 55,075,102 (+)RGD
HuRef354,205,841 - 55,158,072 (+)ENTREZGENE
CHM1_1354,108,246 - 55,059,854 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060868   ⟸   NM_018398
- Peptide Label: precursor
- UniProtKB: Q8IZS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000478969   ⟸   ENST00000620722
RefSeq Acc Id: ENSP00000417318   ⟸   ENST00000477024
RefSeq Acc Id: ENSP00000417279   ⟸   ENST00000490478
RefSeq Acc Id: ENSP00000418028   ⟸   ENST00000492460
RefSeq Acc Id: ENSP00000417455   ⟸   ENST00000468658
RefSeq Acc Id: ENSP00000389506   ⟸   ENST00000415676
RefSeq Acc Id: ENSP00000288197   ⟸   ENST00000288197
RefSeq Acc Id: ENSP00000418228   ⟸   ENST00000471363
RefSeq Acc Id: ENSP00000419101   ⟸   ENST00000474759
Protein Domains
Cache   VWA_N   VWFA

Promoters
RGD ID:6864750
Promoter ID:EPDNEW_H5540
Type:initiation region
Name:CACNA2D3_1
Description:calcium voltage-gated channel auxiliary subunit alpha2delta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5541  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38354,122,588 - 54,122,648EPDNEW
RGD ID:6864752
Promoter ID:EPDNEW_H5541
Type:initiation region
Name:CACNA2D3_2
Description:calcium voltage-gated channel auxiliary subunit alpha2delta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5540  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38354,123,484 - 54,123,544EPDNEW
RGD ID:6800739
Promoter ID:HG_KWN:45302
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000288197,   NM_018398
Position:
Human AssemblyChrPosition (strand)Source
Build 36354,130,896 - 54,131,396 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3
pathogenic
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1
pathogenic
GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1 copy number loss See cases [RCV000053929] Chr3:53287477..57025368 [GRCh38]
Chr3:53321495..57059396 [GRCh37]
Chr3:53296535..57034436 [NCBI36]
Chr3:3p21.1-14.3
uncertain significance
NM_018398.2(CACNA2D3):c.429G>A (p.Gly143=) single nucleotide variant Malignant melanoma [RCV000066153] Chr3:54503539 [GRCh38]
Chr3:54537566 [GRCh37]
Chr3:54512606 [NCBI36]
Chr3:3p14.3
not provided
NM_018398.2(CACNA2D3):c.726G>A (p.Arg242=) single nucleotide variant Malignant melanoma [RCV000066154] Chr3:54569844 [GRCh38]
Chr3:54603871 [GRCh37]
Chr3:54578911 [NCBI36]
Chr3:3p14.3
not provided
NM_018398.2(CACNA2D3):c.1893G>A (p.Gly631=) single nucleotide variant Malignant melanoma [RCV000066155] Chr3:54880844 [GRCh38]
Chr3:54914871 [GRCh37]
Chr3:54889911 [NCBI36]
Chr3:3p14.3
not provided
NM_018398.2(CACNA2D3):c.2343C>T (p.Phe781=) single nucleotide variant Malignant melanoma [RCV000066156] Chr3:54896845 [GRCh38]
Chr3:54930872 [GRCh37]
Chr3:54905912 [NCBI36]
Chr3:3p14.3
not provided
NM_018398.2(CACNA2D3):c.2961G>A (p.Gly987=) single nucleotide variant Malignant melanoma [RCV000066157] Chr3:55018291 [GRCh38]
Chr3:55052318 [GRCh37]
Chr3:55027358 [NCBI36]
Chr3:3p14.3
not provided
GRCh38/hg38 3p21.1(chr3:54216287-54346411)x1 copy number loss See cases [RCV000137402] Chr3:54216287..54346411 [GRCh38]
Chr3:54250314..54380438 [GRCh37]
Chr3:54225354..54355478 [NCBI36]
Chr3:3p21.1
likely benign
GRCh38/hg38 3p21.1-14.3(chr3:54331657-54477137)x1 copy number loss See cases [RCV000137287] Chr3:54331657..54477137 [GRCh38]
Chr3:54365684..54511164 [GRCh37]
Chr3:54340724..54486204 [NCBI36]
Chr3:3p21.1-14.3
likely benign|uncertain significance
GRCh38/hg38 3p21.1-14.3(chr3:54326299-54496558)x1 copy number loss See cases [RCV000140934] Chr3:54326299..54496558 [GRCh38]
Chr3:54360326..54530585 [GRCh37]
Chr3:54335366..54505625 [NCBI36]
Chr3:3p21.1-14.3
uncertain significance
GRCh38/hg38 3p14.3(chr3:54728779-54780521)x1 copy number loss See cases [RCV000142173] Chr3:54728779..54780521 [GRCh38]
Chr3:54762806..54814548 [GRCh37]
Chr3:54737846..54789588 [NCBI36]
Chr3:3p14.3
uncertain significance
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3
likely pathogenic
GRCh37/hg19 3p14.3(chr3:54608460-54891801)x1 copy number loss See cases [RCV000446042] Chr3:54608460..54891801 [GRCh37]
Chr3:3p14.3
likely benign
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2
pathogenic
GRCh37/hg19 3p14.3(chr3:54977776-55279932)x3 copy number gain See cases [RCV000447197] Chr3:54977776..55279932 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:54616095-54689433)x3 copy number gain See cases [RCV000447998] Chr3:54616095..54689433 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p21.1(chr3:53892719-54182466)x3 copy number gain not provided [RCV000682258] Chr3:53892719..54182466 [GRCh37]
Chr3:3p21.1
likely benign
GRCh37/hg19 3p14.3(chr3:54793252-54931307)x1 copy number loss not provided [RCV000682259] Chr3:54793252..54931307 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu) single nucleotide variant not provided [RCV000709917] Chr3:55073528 [GRCh38]
Chr3:55107555 [GRCh37]
Chr3:3p14.3
not provided
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p14.3(chr3:54978020-55276601)x3 copy number gain not provided [RCV000742413] Chr3:54978020..55276601 [GRCh37]
Chr3:3p14.3
benign
GRCh37/hg19 3p14.3(chr3:55096928-55127512)x3 copy number gain not provided [RCV000742414] Chr3:55096928..55127512 [GRCh37]
Chr3:3p14.3
benign
NM_018398.3(CACNA2D3):c.676+9A>C single nucleotide variant not provided [RCV001680902] Chr3:54562940 [GRCh38]
Chr3:54596967 [GRCh37]
Chr3:3p14.3
benign
GRCh37/hg19 3p21.1-14.3(chr3:54364992-55064740)x1 copy number loss not provided [RCV001005435] Chr3:54364992..55064740 [GRCh37]
Chr3:3p21.1-14.3
uncertain significance
NM_018398.3(CACNA2D3):c.246= (p.Ile82=) variation not provided [RCV000948211] Chr3:54320483 [GRCh38]
Chr3:54354510 [GRCh37]
Chr3:3p21.1
benign
NM_020678.4(LRTM1):c.880G>A (p.Val294Ile) single nucleotide variant not provided [RCV000965642] Chr3:54918617 [GRCh38]
Chr3:54952644 [GRCh37]
Chr3:3p14.3
benign
NM_020678.4(LRTM1):c.1013_1014del (p.Glu338fs) microsatellite not provided [RCV000946744] Chr3:54918483..54918484 [GRCh38]
Chr3:54952510..54952511 [GRCh37]
Chr3:3p14.3
likely benign
NM_020678.4(LRTM1):c.793G>C (p.Glu265Gln) single nucleotide variant not provided [RCV000880582] Chr3:54918704 [GRCh38]
Chr3:54952731 [GRCh37]
Chr3:3p14.3
benign
NM_018398.3(CACNA2D3):c.3210G>A (p.Ala1070=) single nucleotide variant not provided [RCV000886123] Chr3:55074140 [GRCh38]
Chr3:55108167 [GRCh37]
Chr3:3p14.3
benign
GRCh37/hg19 3p14.3(chr3:54707598-54828067)x1 copy number loss not provided [RCV001005436] Chr3:54707598..54828067 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:54977796-55276518)x3 copy number gain not provided [RCV000848207] Chr3:54977796..55276518 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p21.1-14.3(chr3:54331583-54541297)x1 copy number loss not provided [RCV000847418] Chr3:54331583..54541297 [GRCh37]
Chr3:3p21.1-14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:54976130-55276518)x3 copy number gain not provided [RCV000845909] Chr3:54976130..55276518 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:54976130-55287279)x3 copy number gain not provided [RCV000847208] Chr3:54976130..55287279 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p21.1-14.3(chr3:54298574-54491378)x1 copy number loss not provided [RCV000848468] Chr3:54298574..54491378 [GRCh37]
Chr3:3p21.1-14.3
uncertain significance
NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs) microsatellite not provided [RCV001249306] Chr3:54122730..54122734 [GRCh38]
Chr3:54156757..54156761 [GRCh37]
Chr3:3p21.1
not provided
NM_020678.4(LRTM1):c.191del (p.His64fs) deletion not provided [RCV000900478] Chr3:54925032 [GRCh38]
Chr3:54959059 [GRCh37]
Chr3:3p14.3
likely benign
NM_018398.3(CACNA2D3):c.2195C>T (p.Thr732Met) single nucleotide variant not provided [RCV000953199] Chr3:54891399 [GRCh38]
Chr3:54925426 [GRCh37]
Chr3:3p14.3
benign
NM_020678.4(LRTM1):c.797G>T (p.Arg266Leu) single nucleotide variant not provided [RCV000974987] Chr3:54918700 [GRCh38]
Chr3:54952727 [GRCh37]
Chr3:3p14.3
benign
NM_020678.4(LRTM1):c.487C>T (p.Arg163Ter) single nucleotide variant not provided [RCV000913860] Chr3:54924736 [GRCh38]
Chr3:54958763 [GRCh37]
Chr3:3p14.3
benign
NM_018398.3(CACNA2D3):c.3192A>G (p.Ala1064=) single nucleotide variant not provided [RCV001595809] Chr3:55074122 [GRCh38]
Chr3:55108149 [GRCh37]
Chr3:3p14.3
benign
GRCh37/hg19 3p14.3(chr3:54975766-55100284)x1 copy number loss not provided [RCV001259683] Chr3:54975766..55100284 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p21.1-14.3(chr3:54370192-54625132)x1 copy number loss not provided [RCV001832945] Chr3:54370192..54625132 [GRCh37]
Chr3:3p21.1-14.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15460 AgrOrtholog
COSMIC CACNA2D3 COSMIC
Ensembl Genes ENSG00000157445 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000288197 UniProtKB/Swiss-Prot
  ENSP00000389506 UniProtKB/Swiss-Prot
  ENSP00000417279 UniProtKB/Swiss-Prot
  ENSP00000417318 UniProtKB/TrEMBL
  ENSP00000417455 UniProtKB/TrEMBL
  ENSP00000418028 UniProtKB/TrEMBL
  ENSP00000418228 UniProtKB/Swiss-Prot
  ENSP00000419101 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478969 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000288197 UniProtKB/Swiss-Prot
  ENST00000415676 UniProtKB/Swiss-Prot
  ENST00000468658 UniProtKB/TrEMBL
  ENST00000471363 UniProtKB/Swiss-Prot
  ENST00000474759 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000477024 UniProtKB/TrEMBL
  ENST00000490478 UniProtKB/Swiss-Prot
  ENST00000492460 UniProtKB/TrEMBL
  ENST00000620722 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157445 GTEx
HGNC ID HGNC:15460 ENTREZGENE
Human Proteome Map CACNA2D3 Human Proteome Map
InterPro VDCC_a2/dsu UniProtKB/Swiss-Prot
  VWA_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55799 UniProtKB/Swiss-Prot
NCBI Gene 55799 ENTREZGENE
OMIM 606399 OMIM
Pfam VGCC_alpha2 UniProtKB/Swiss-Prot
  VWA_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26013 PharmGKB
PROSITE VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DSF6_HUMAN UniProtKB/TrEMBL
  C9JAV5_HUMAN UniProtKB/TrEMBL
  CA2D3_HUMAN UniProtKB/Swiss-Prot
  F8WAV4_HUMAN UniProtKB/TrEMBL
  Q8IZS8 ENTREZGENE
UniProt Secondary B2RPL6 UniProtKB/Swiss-Prot
  Q9NY16 UniProtKB/Swiss-Prot
  Q9NY18 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA2D3  calcium voltage-gated channel auxiliary subunit alpha2delta 3    calcium channel, voltage-dependent, alpha 2/delta subunit 3  Symbol and/or name change 5135510 APPROVED
2011-09-01 CACNA2D3  calcium channel, voltage-dependent, alpha 2/delta subunit 3  CACNA2D3  calcium channel, voltage-dependent, alpha 2/delta subunit 3  Symbol and/or name change 5135510 APPROVED