CACNG3 (calcium voltage-gated channel auxiliary subunit gamma 3) - Rat Genome Database

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Gene: CACNG3 (calcium voltage-gated channel auxiliary subunit gamma 3) Homo sapiens
Analyze
Symbol: CACNG3
Name: calcium voltage-gated channel auxiliary subunit gamma 3
RGD ID: 736548
HGNC Page HGNC:1407
Description: Predicted to enable channel regulator activity and voltage-gated calcium channel activity. Predicted to be involved in several processes, including intracellular protein transport; positive regulation of glutamatergic synaptic transmission; and postsynaptic neurotransmitter receptor diffusion trapping. Predicted to be located in somatodendritic compartment. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. Predicted to be integral component of postsynaptic density membrane. Implicated in childhood absence epilepsy and macular degeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Cacng2; calcium channel, voltage-dependent, gamma subunit 3; neuronal voltage-gated calcium channel gamma-3 subunit; TARP gamma-3; transmembrane AMPAR regulatory protein gamma-3; voltage-dependent calcium channel gamma-3 subunit; voltage-gated calcium channel gamma subunit
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
GRCh381624,256,335 - 24,362,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1624,256,335 - 24,362,412 (+)EnsemblGRCh38hg38GRCh38
GRCh371624,267,656 - 24,373,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361624,174,377 - 24,281,238 (+)NCBINCBI36hg18NCBI36
Build 341624,174,376 - 24,281,238NCBI
Celera1623,044,814 - 23,151,626 (+)NCBI
Cytogenetic Map16p12.1NCBI
HuRef1622,357,514 - 22,464,192 (+)NCBIHuRef
CHM1_11625,279,898 - 25,387,338 (+)NCBICHM1_1
T2T-CHM13v2.01624,532,831 - 24,639,260 (+)NCBI
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

References

References - curated
# Reference Title Reference Citation
1. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. Burgess DL, etal., Genome Res 1999 Dec;9(12):1204-13.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Robinson R, etal., Epilepsy Res 2002 Feb;48(3):169-79.
7. Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. Spencer KL, etal., Invest Ophthalmol Vis Sci. 2011 Mar 28;52(3):1748-54. doi: 10.1167/iovs.09-5112. Print 2011 Mar.
Additional References at PubMed
PMID:10221464   PMID:10493829   PMID:11170751   PMID:12477932   PMID:14505496   PMID:14572453   PMID:14702039   PMID:15489334   PMID:17207965   PMID:17264864   PMID:17652770   PMID:18304745  
PMID:20219255   PMID:21832049   PMID:21873635   PMID:26186194   PMID:28514442   PMID:33961781  


Genomics

Comparative Map Data
CACNG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381624,256,335 - 24,362,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1624,256,335 - 24,362,412 (+)EnsemblGRCh38hg38GRCh38
GRCh371624,267,656 - 24,373,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361624,174,377 - 24,281,238 (+)NCBINCBI36hg18NCBI36
Build 341624,174,376 - 24,281,238NCBI
Celera1623,044,814 - 23,151,626 (+)NCBI
Cytogenetic Map16p12.1NCBI
HuRef1622,357,514 - 22,464,192 (+)NCBIHuRef
CHM1_11625,279,898 - 25,387,338 (+)NCBICHM1_1
T2T-CHM13v2.01624,532,831 - 24,639,260 (+)NCBI
Cacng3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397122,270,967 - 122,368,616 (+)NCBIGRCm39mm39
GRCm39 Ensembl7122,269,715 - 122,368,616 (+)Ensembl
GRCm387122,671,744 - 122,769,393 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7122,670,492 - 122,769,393 (+)EnsemblGRCm38mm10GRCm38
MGSCv377129,815,258 - 129,912,907 (+)NCBIGRCm37mm9NCBIm37
MGSCv367122,462,922 - 122,559,994 (+)NCBImm8
Celera7122,557,841 - 122,658,275 (+)NCBICelera
Cytogenetic Map7F2NCBI
Cacng3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21177,201,990 - 177,296,473 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1177,201,288 - 177,297,024 (+)Ensembl
Rnor_6.01192,613,766 - 192,708,371 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1192,613,372 - 192,709,078 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01199,676,988 - 199,771,889 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41181,498,716 - 181,594,090 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11181,638,630 - 181,734,005 (+)NCBI
Celera1174,909,742 - 175,002,485 (+)NCBICelera
Cytogenetic Map1q36NCBI
Cacng3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554932,742,096 - 2,841,403 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554932,742,096 - 2,841,353 (+)NCBIChiLan1.0ChiLan1.0
CACNG3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11624,501,881 - 24,608,921 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1624,501,881 - 24,608,921 (+)Ensemblpanpan1.1panPan2
CACNG3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1621,626,977 - 21,712,331 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl621,627,547 - 21,711,635 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha623,188,831 - 23,274,205 (-)NCBI
ROS_Cfam_1.0621,764,445 - 21,849,816 (-)NCBI
ROS_Cfam_1.0 Ensembl621,764,445 - 21,849,806 (-)Ensembl
UMICH_Zoey_3.1621,569,695 - 21,655,198 (-)NCBI
UNSW_CanFamBas_1.0621,472,243 - 21,557,090 (-)NCBI
UU_Cfam_GSD_1.0621,866,262 - 21,951,817 (-)NCBI
Cacng3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344120,664,522 - 120,743,045 (+)NCBI
SpeTri2.0NW_0049365018,762,386 - 8,840,123 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNG3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl321,855,855 - 21,961,187 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1321,855,847 - 21,961,191 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2322,759,942 - 22,865,619 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CACNG3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1521,975,706 - 22,081,428 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl521,976,428 - 22,081,547 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660687,691,896 - 7,799,654 (-)NCBIVero_WHO_p1.0
Cacng3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247829,319,277 - 9,408,821 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247829,319,318 - 9,408,620 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D16S672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,328,801 - 24,329,093UniSTSGRCh37
Celera1623,106,697 - 23,106,989UniSTS
Cytogenetic Map16p13.3-p12.1UniSTS
Cytogenetic Map16p12.1UniSTS
HuRef1622,419,386 - 22,419,587UniSTS
Marshfield Genetic Map1643.89UniSTS
Marshfield Genetic Map1643.89RGD
SHGC-60568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,373,567 - 24,373,691UniSTSGRCh37
Build 361624,281,068 - 24,281,192RGDNCBI36
Celera1623,151,456 - 23,151,580RGD
Cytogenetic Map16p12.1UniSTS
HuRef1622,464,022 - 22,464,146UniSTS
GeneMap99-GB4 RH Map16196.97UniSTS
Whitehead-RH Map16116.9UniSTS
SHGC-144113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,366,354 - 24,366,634UniSTSGRCh37
Build 361624,273,855 - 24,274,135RGDNCBI36
Celera1623,144,242 - 23,144,522RGD
Cytogenetic Map16p12.1UniSTS
HuRef1622,456,808 - 22,457,088UniSTS
URB036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,267,538 - 24,267,699UniSTSGRCh37
Build 361624,175,039 - 24,175,200RGDNCBI36
Celera1623,045,476 - 23,045,637RGD
HuRef1622,358,178 - 22,358,337UniSTS
CACNG3_4051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,372,880 - 24,373,760UniSTSGRCh37
Build 361624,280,381 - 24,281,261RGDNCBI36
Celera1623,150,769 - 23,151,649RGD
HuRef1622,463,335 - 22,464,215UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:494
Count of miRNA genes:392
Interacting mature miRNAs:417
Transcripts:ENST00000005284
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 adipose tissue appendage
High
Medium 1 3 1417 2
Low 3 7 44 3 43 3 15 10 1142 2 224 9 3 10
Below cutoff 953 1237 666 151 867 99 1697 904 537 60 485 622 53 440 1101

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000005284   ⟹   ENSP00000005284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1624,256,335 - 24,362,412 (+)Ensembl
RefSeq Acc Id: NM_006539   ⟹   NP_006530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,256,335 - 24,362,412 (+)NCBI
GRCh371624,266,874 - 24,373,737 (+)ENTREZGENE
Build 361624,174,377 - 24,281,238 (+)NCBI Archive
Celera1623,044,814 - 23,151,626 (+)RGD
HuRef1622,357,514 - 22,464,192 (+)ENTREZGENE
CHM1_11625,279,898 - 25,387,338 (+)NCBI
T2T-CHM13v2.01624,532,831 - 24,639,260 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006530   ⟸   NM_006539
- UniProtKB: O60359 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000005284   ⟸   ENST00000005284

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60359-F1-model_v2 AlphaFold O60359 1-315 view protein structure

Promoters
RGD ID:7231627
Promoter ID:EPDNEW_H21559
Type:initiation region
Name:CACNG3_2
Description:calcium voltage-gated channel auxiliary subunit gamma 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21560  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,255,641 - 24,255,701EPDNEW
RGD ID:7231629
Promoter ID:EPDNEW_H21560
Type:initiation region
Name:CACNG3_1
Description:calcium voltage-gated channel auxiliary subunit gamma 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21559  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,256,372 - 24,256,432EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1
pathogenic
NM_006539.3(CACNG3):c.36C>T (p.Ile12=) single nucleotide variant Malignant melanoma [RCV000071054] Chr16:24256790 [GRCh38]
Chr16:24268111 [GRCh37]
Chr16:24175612 [NCBI36]
Chr16:16p12.1
not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2
likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2
likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Ductal breast carcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2-12.1(chr16:23610466-24743657)x1 copy number loss not provided [RCV000683797] Chr16:23610466..24743657 [GRCh37]
Chr16:16p12.2-12.1
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2
not provided
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1407 AgrOrtholog
COSMIC CACNG3 COSMIC
Ensembl Genes ENSG00000006116 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000005284 ENTREZGENE
  ENSP00000005284.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000005284 ENTREZGENE
  ENST00000005284.4 UniProtKB/Swiss-Prot
GTEx ENSG00000006116 GTEx
HGNC ID HGNC:1407 ENTREZGENE
Human Proteome Map CACNG3 Human Proteome Map
InterPro PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot
  VDCC_gsu UniProtKB/Swiss-Prot
KEGG Report hsa:10368 UniProtKB/Swiss-Prot
NCBI Gene 10368 ENTREZGENE
OMIM 606403 OMIM
Pfam PMP22_Claudin UniProtKB/Swiss-Prot
PharmGKB PA26017 PharmGKB
PRINTS VDCCGAMMA UniProtKB/Swiss-Prot
UniProt CCG3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNG3  calcium voltage-gated channel auxiliary subunit gamma 3    calcium channel, voltage-dependent, gamma subunit 3  Symbol and/or name change 5135510 APPROVED