CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2) - Rat Genome Database

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Gene: CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2) Homo sapiens
Analyze
Symbol: CACNG2
Name: calcium voltage-gated channel auxiliary subunit gamma 2
RGD ID: 731676
HGNC Page HGNC:1406
Description: Predicted to enable channel regulator activity and voltage-gated calcium channel activity. Predicted to be involved in several processes, including neurotransmitter receptor transport, postsynaptic endosome to lysosome; positive regulation of glutamatergic synaptic transmission; and postsynaptic neurotransmitter receptor diffusion trapping. Predicted to act upstream of or within several processes, including membrane depolarization; membrane hyperpolarization; and neuromuscular junction development. Predicted to be located in endocytic vesicle membrane and plasma membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density membrane. Implicated in autosomal dominant intellectual developmental disorder 10.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium channel, voltage-dependent, gamma subunit 2; FLJ41437; MGC138502; MGC138504; MRD10; neuronal voltage-gated calcium channel gamma-2 subunit; RP5-1119A7.17; stargazin; TARP gamma-2; transmembrane AMPAR regulatory protein gamma-2; voltage-dependent calcium channel gamma-2 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
GRCh382236,560,857 - 36,703,752 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2236,560,857 - 36,703,752 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,956,904 - 37,099,797 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,290,050 - 35,428,849 (-)NCBINCBI36Build 36hg18NCBI36
Build 342235,284,603 - 35,423,403NCBI
Celera2220,762,236 - 20,901,711 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2219,924,851 - 20,065,866 (-)NCBIHuRef
CHM1_12236,915,848 - 37,057,863 (-)NCBICHM1_1
T2T-CHM13v2.02237,021,025 - 37,164,438 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mechanisms of CaMKII action in long-term potentiation. Lisman J, etal., Nat Rev Neurosci. 2012 Feb 15;13(3):169-82. doi: 10.1038/nrn3192.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Genetic absence epilepsy rats from Strasbourg have increased corticothalamic expression of stargazin. Powell KL, etal., Neurobiol Dis. 2008 Aug;31(2):261-5. doi: 10.1016/j.nbd.2008.04.012. Epub 2008 May 10.
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
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9697694   PMID:10221464   PMID:10591208   PMID:10643919   PMID:11140673   PMID:11170751   PMID:11805122   PMID:12359873   PMID:12477932   PMID:14505496   PMID:14702039   PMID:15001777  
PMID:15461802   PMID:15489334   PMID:15567474   PMID:15758178   PMID:16434481   PMID:16637659   PMID:16793768   PMID:17483093   PMID:17652770   PMID:18304745   PMID:18311135   PMID:18408563  
PMID:18571626   PMID:19156168   PMID:19543281   PMID:19805317   PMID:20219255   PMID:20688780   PMID:20805473   PMID:21832049   PMID:21873635   PMID:23166629   PMID:23602568   PMID:25422502  
PMID:26186194   PMID:26744192   PMID:27418173   PMID:27705782   PMID:28514442   PMID:28768197   PMID:30021884   PMID:30371558   PMID:30738251   PMID:32296183   PMID:33961781   PMID:35776036  
PMID:37491367  


Genomics

Comparative Map Data
CACNG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382236,560,857 - 36,703,752 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2236,560,857 - 36,703,752 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,956,904 - 37,099,797 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,290,050 - 35,428,849 (-)NCBINCBI36Build 36hg18NCBI36
Build 342235,284,603 - 35,423,403NCBI
Celera2220,762,236 - 20,901,711 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2219,924,851 - 20,065,866 (-)NCBIHuRef
CHM1_12236,915,848 - 37,057,863 (-)NCBICHM1_1
T2T-CHM13v2.02237,021,025 - 37,164,438 (-)NCBIT2T-CHM13v2.0
Cacng2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391577,876,119 - 78,004,420 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1577,875,948 - 78,004,228 (-)EnsemblGRCm39 Ensembl
GRCm381577,991,919 - 78,120,220 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1577,991,748 - 78,120,028 (-)EnsemblGRCm38mm10GRCm38
MGSCv371577,824,053 - 77,949,710 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361577,822,211 - 77,946,535 (-)NCBIMGSCv36mm8
Celera1579,452,871 - 79,580,282 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1536.92NCBI
Cacng2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87111,451,605 - 111,579,071 (-)NCBIGRCr8
mRatBN7.27109,572,838 - 109,698,516 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7109,574,459 - 109,697,227 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7111,324,291 - 111,447,205 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07113,547,853 - 113,670,771 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07113,515,808 - 113,638,800 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07119,228,112 - 119,353,332 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7119,228,102 - 119,352,605 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07119,221,311 - 119,344,620 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47115,913,440 - 116,037,891 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17115,947,669 - 116,072,121 (-)NCBI
Celera7105,915,114 - 106,037,137 (-)NCBICelera
Cytogenetic Map7q34NCBI
Cacng2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541323,132,896 - 23,248,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541323,136,369 - 23,248,231 (-)NCBIChiLan1.0ChiLan1.0
CACNG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22346,415,282 - 46,557,237 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12249,106,496 - 49,247,988 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02217,475,693 - 17,618,299 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12235,313,679 - 35,454,844 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2235,317,121 - 35,454,850 (-)Ensemblpanpan1.1panPan2
CACNG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11027,750,314 - 27,862,646 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1027,750,935 - 27,862,885 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1027,704,742 - 27,816,319 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01028,542,976 - 28,647,844 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1028,543,246 - 28,649,561 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11028,264,819 - 28,376,310 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01028,572,787 - 28,684,331 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01028,751,224 - 28,862,860 (+)NCBIUU_Cfam_GSD_1.0
Cacng2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494511,115,362 - 11,221,857 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364924,125,173 - 4,236,062 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364924,125,182 - 4,232,239 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl511,067,692 - 11,185,480 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1511,067,016 - 11,185,480 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.258,846,099 - 8,866,357 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11919,263,950 - 19,406,952 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1919,267,426 - 19,406,883 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045106,459,860 - 106,604,857 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacng2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475211,062,002 - 11,170,406 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475211,062,059 - 11,172,357 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNG2
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006078.5(CACNG2):c.427G>C (p.Val143Leu) single nucleotide variant Intellectual disability, autosomal dominant 10 [RCV000023217] Chr22:36566362 [GRCh38]
Chr22:36962409 [GRCh37]
Chr22:22q12.3		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1 copy number loss See cases [RCV000051365] Chr22:36552376..37669915 [GRCh38]
Chr22:36948423..38065922 [GRCh37]
Chr22:35278369..36395868 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 copy number gain See cases [RCV000051683] Chr22:36068124..38002382 [GRCh38]
Chr22:36464172..38398389 [GRCh37]
Chr22:34794118..36728335 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3 copy number gain See cases [RCV000052854] Chr22:35753347..36593973 [GRCh38]
Chr22:36149394..36990020 [GRCh37]
Chr22:34479340..35319966 [NCBI36]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3 copy number gain See cases [RCV000138088] Chr22:36313122..36561017 [GRCh38]
Chr22:36709167..36957064 [GRCh37]
Chr22:35039113..35287010 [NCBI36]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
NM_006078.5(CACNG2):c.437-7C>A single nucleotide variant not specified [RCV000193079] Chr22:36564893 [GRCh38]
Chr22:36960940 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1		 uncertain significance
GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1 copy number loss See cases [RCV000207444] Chr22:35680095..38098981 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr) single nucleotide variant CACNG2-related condition [RCV003955395]|not provided [RCV000727327]|not specified [RCV000239025] Chr22:36564683 [GRCh38]
Chr22:36960730 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006078.5(CACNG2):c.212-12C>A single nucleotide variant not provided [RCV000434804] Chr22:36587560 [GRCh38]
Chr22:36983607 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006078.5(CACNG2):c.279A>C (p.Thr93=) single nucleotide variant not specified [RCV000503029] Chr22:36587481 [GRCh38]
Chr22:36983528 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.541T>C (p.Tyr181His) single nucleotide variant Ependymoma [RCV000577842] Chr22:36564782 [GRCh38]
Chr22:36960829 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1 copy number loss See cases [RCV000512008] Chr22:36877226..38548989 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006078.5(CACNG2):c.376G>A (p.Glu126Lys) single nucleotide variant Inborn genetic diseases [RCV003286308] Chr22:36566413 [GRCh38]
Chr22:36962460 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1		 likely pathogenic
Single allele duplication not provided [RCV000677973] Chr22:36785240..36995848 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:36844619-36988654)x3 copy number gain not provided [RCV000741942] Chr22:36844619..36988654 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:36870845-37007470)x3 copy number gain not provided [RCV000741943] Chr22:36870845..37007470 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006078.5(CACNG2):c.579C>T (p.Val193=) single nucleotide variant CACNG2-related condition [RCV003902953]|not provided [RCV000916024] Chr22:36564744 [GRCh38]
Chr22:36960791 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:36831022-37009180)x4 copy number gain not provided [RCV000848098] Chr22:36831022..37009180 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:36831984-37009111)x3 copy number gain not provided [RCV000849512] Chr22:36831984..37009111 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:36746223-36971882)x3 copy number gain not provided [RCV000846041] Chr22:36746223..36971882 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:36704833-36968932)x3 copy number gain not provided [RCV000847397] Chr22:36704833..36968932 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.105C>T (p.Tyr35=) single nucleotide variant not provided [RCV000924263] Chr22:36702472 [GRCh38]
Chr22:37098517 [GRCh37]
Chr22:22q12.3		 likely benign
NM_006078.5(CACNG2):c.815C>T (p.Thr272Met) single nucleotide variant not specified [RCV001175424] Chr22:36564508 [GRCh38]
Chr22:36960555 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.759C>A (p.Ser253=) single nucleotide variant not provided [RCV000935190] Chr22:36564564 [GRCh38]
Chr22:36960611 [GRCh37]
Chr22:22q12.3		 likely benign
NM_006078.5(CACNG2):c.298G>T (p.Ala100Ser) single nucleotide variant Inborn genetic diseases [RCV002560239]|Intellectual disability, autosomal dominant 10 [RCV001197659] Chr22:36566491 [GRCh38]
Chr22:36962538 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006078.5(CACNG2):c.859A>T (p.Thr287Ser) single nucleotide variant Seizure [RCV001281454] Chr22:36564464 [GRCh38]
Chr22:36960511 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3 copy number gain not provided [RCV001825267] Chr22:36831028..37009180 [GRCh37]
Chr22:22q12.3		 not provided
NM_006078.5(CACNG2):c.944C>G (p.Thr315Arg) single nucleotide variant Intellectual disability, autosomal dominant 10 [RCV002226828] Chr22:36564379 [GRCh38]
Chr22:36960426 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NM_006078.5(CACNG2):c.669C>G (p.Ile223Met) single nucleotide variant Intellectual disability, autosomal dominant 10 [RCV002275593] Chr22:36564654 [GRCh38]
Chr22:36960701 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.436+1G>A single nucleotide variant Neurodevelopmental disorder [RCV002277685] Chr22:36566352 [GRCh38]
Chr22:36962399 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.865A>G (p.Asn289Asp) single nucleotide variant Inborn genetic diseases [RCV003256114] Chr22:36564458 [GRCh38]
Chr22:36960505 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.683G>C (p.Ser228Thr) single nucleotide variant Inborn genetic diseases [RCV003301024] Chr22:36564640 [GRCh38]
Chr22:36960687 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:36751242-36971521)x3 copy number gain not provided [RCV002473502] Chr22:36751242..36971521 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:36693899-36963432)x3 copy number gain not provided [RCV002472427] Chr22:36693899..36963432 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.660C>T (p.Ala220=) single nucleotide variant Inborn genetic diseases [RCV002375857] Chr22:36564663 [GRCh38]
Chr22:36960710 [GRCh37]
Chr22:22q12.3		 likely benign
NM_006078.5(CACNG2):c.629C>T (p.Ala210Val) single nucleotide variant Inborn genetic diseases [RCV002845919] Chr22:36564694 [GRCh38]
Chr22:36960741 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.448A>G (p.Ile150Val) single nucleotide variant Inborn genetic diseases [RCV002925025] Chr22:36564875 [GRCh38]
Chr22:36960922 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.576G>T (p.Met192Ile) single nucleotide variant Inborn genetic diseases [RCV002827564] Chr22:36564747 [GRCh38]
Chr22:36960794 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.658G>A (p.Ala220Thr) single nucleotide variant Inborn genetic diseases [RCV002769808] Chr22:36564665 [GRCh38]
Chr22:36960712 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.313A>T (p.Ser105Cys) single nucleotide variant Inborn genetic diseases [RCV003191189] Chr22:36566476 [GRCh38]
Chr22:36962523 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.136A>C (p.Ser46Arg) single nucleotide variant Intellectual disability, autosomal dominant 10 [RCV003143947] Chr22:36702441 [GRCh38]
Chr22:37098486 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.956G>C (p.Arg319Pro) single nucleotide variant Intellectual disability, autosomal dominant 10 [RCV003333498] Chr22:36564367 [GRCh38]
Chr22:36960414 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.306G>A (p.Arg102=) single nucleotide variant not provided [RCV003433202] Chr22:36566483 [GRCh38]
Chr22:36962530 [GRCh37]
Chr22:22q12.3		 likely benign
NM_006078.5(CACNG2):c.483C>T (p.Ala161=) single nucleotide variant not provided [RCV003437553] Chr22:36564840 [GRCh38]
Chr22:36960887 [GRCh37]
Chr22:22q12.3		 likely benign
NM_006078.5(CACNG2):c.589G>A (p.Ala197Thr) single nucleotide variant Intellectual disability, autosomal dominant 10 [RCV003441170] Chr22:36564734 [GRCh38]
Chr22:36960781 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.549G>T (p.Gly183=) single nucleotide variant not provided [RCV003433201] Chr22:36564774 [GRCh38]
Chr22:36960821 [GRCh37]
Chr22:22q12.3		 likely benign
NM_006078.5(CACNG2):c.190T>C (p.Trp64Arg) single nucleotide variant not provided [RCV003542507] Chr22:36702387 [GRCh38]
Chr22:37098432 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_006078.5(CACNG2):c.228G>T (p.Leu76=) single nucleotide variant CACNG2-related condition [RCV003921748] Chr22:36587532 [GRCh38]
Chr22:36983579 [GRCh37]
Chr22:22q12.3		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:427
Count of miRNA genes:343
Interacting mature miRNAs:380
Transcripts:ENST00000300105, ENST00000480002
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.

Markers in Region
D22S426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372237,023,301 - 37,023,418UniSTSGRCh37
GRCh372237,023,213 - 37,023,431UniSTSGRCh37
Build 362235,353,247 - 35,353,364RGDNCBI36
Celera2220,825,387 - 20,825,607UniSTS
Celera2220,825,475 - 20,825,594RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,990,793 - 19,991,013UniSTS
HuRef2219,990,881 - 19,991,000UniSTS
Marshfield Genetic Map2241.42RGD
Marshfield Genetic Map2241.42UniSTS
Genethon Genetic Map2236.6UniSTS
Stanford-G3 RH Map221047.0UniSTS
NCBI RH Map22151.7UniSTS
GeneMap99-G3 RH Map221047.0UniSTS
G44389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372237,095,239 - 37,095,419UniSTSGRCh37
Build 362235,425,185 - 35,425,365RGDNCBI36
Celera2220,898,049 - 20,898,227RGD
Cytogenetic Map22q13.1UniSTS
HuRef2220,062,418 - 20,062,596UniSTS
D22S573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372237,086,932 - 37,087,203UniSTSGRCh37
Build 362235,416,878 - 35,417,149RGDNCBI36
Celera2220,889,739 - 20,890,014RGD
Cytogenetic Map22q13.1UniSTS
HuRef2220,054,108 - 20,054,383UniSTS
D22S619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372237,038,251 - 37,038,477UniSTSGRCh37
Build 362235,368,197 - 35,368,423RGDNCBI36
Celera2220,840,427 - 20,840,653RGD
Cytogenetic Map22q13.1UniSTS
HuRef2220,005,833 - 20,006,059UniSTS
Whitehead-RH Map22119.7UniSTS
RH45498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372237,082,584 - 37,082,806UniSTSGRCh37
Build 362235,412,530 - 35,412,752RGDNCBI36
Celera2220,885,390 - 20,885,612RGD
Cytogenetic Map22q13.1UniSTS
HuRef2220,049,759 - 20,049,981UniSTS
GeneMap99-GB4 RH Map22112.0UniSTS
D22S1258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372237,088,314 - 37,088,615UniSTSGRCh37
Build 362235,418,260 - 35,418,561RGDNCBI36
Celera2220,891,124 - 20,891,425RGD
Cytogenetic Map22q13.1UniSTS
HuRef2220,055,493 - 20,055,794UniSTS
GeneMap99-GB4 RH Map22113.53UniSTS
Whitehead-RH Map22120.0UniSTS
D22S426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS
Stanford-G3 RH Map221047.0UniSTS
NCBI RH Map22151.7UniSTS
GeneMap99-G3 RH Map221047.0UniSTS
D6S1611  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.1UniSTS
Marshfield Genetic Map647.71UniSTS
Genethon Genetic Map647.6UniSTS


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
High
Medium 1 493 3 6
Low 2 267 2 4 2 4 2 2291 2 23 34 2 1 2 3
Below cutoff 1439 1533 615 155 711 85 2235 1187 558 50 758 667 71 796 1486

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_166440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF096322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE670632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI919073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300105   ⟹   ENSP00000300105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,560,857 - 36,703,752 (-)Ensembl
RefSeq Acc Id: ENST00000480002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,584,489 - 36,585,454 (-)Ensembl
RefSeq Acc Id: NM_001379051   ⟹   NP_001365980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,560,857 - 36,703,752 (-)NCBI
T2T-CHM13v2.02237,021,025 - 37,164,438 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006078   ⟹   NP_006069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,560,857 - 36,703,752 (-)NCBI
GRCh372236,956,916 - 37,098,690 (-)ENTREZGENE
Build 362235,290,050 - 35,428,849 (-)NCBI Archive
HuRef2219,924,851 - 20,065,866 (-)ENTREZGENE
CHM1_12236,915,848 - 37,057,863 (-)NCBI
T2T-CHM13v2.02237,021,025 - 37,164,438 (-)NCBI
Sequence:
RefSeq Acc Id: NR_166440
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,560,857 - 36,703,752 (-)NCBI
T2T-CHM13v2.02237,021,025 - 37,164,438 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028531   ⟹   XP_016884020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,560,857 - 36,570,240 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054324980   ⟹   XP_054180955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02237,021,025 - 37,030,400 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_006069   ⟸   NM_006078
- Peptide Label: isoform 1
- UniProtKB: Q5TGT3 (UniProtKB/Swiss-Prot),   Q2M1M1 (UniProtKB/Swiss-Prot),   Q9UGZ7 (UniProtKB/Swiss-Prot),   Q9Y698 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884020   ⟸   XM_017028531
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001365980   ⟸   NM_001379051
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000300105   ⟸   ENST00000300105
RefSeq Acc Id: XP_054180955   ⟸   XM_054324980
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y698-F1-model_v2 AlphaFold Q9Y698 1-323 view protein structure

Promoters
RGD ID:13603906
Promoter ID:EPDNEW_H28137
Type:initiation region
Name:CACNG2_1
Description:calcium voltage-gated channel auxiliary subunit gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,703,517 - 36,703,577EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1406 AgrOrtholog
COSMIC CACNG2 COSMIC
Ensembl Genes ENSG00000166862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000300105 ENTREZGENE
  ENST00000300105.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.140.150 UniProtKB/Swiss-Prot
GTEx ENSG00000166862 GTEx
HGNC ID HGNC:1406 ENTREZGENE
Human Proteome Map CACNG2 Human Proteome Map
InterPro PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot
  VDCC_g2su UniProtKB/Swiss-Prot
  VDCC_gsu UniProtKB/Swiss-Prot
KEGG Report hsa:10369 UniProtKB/Swiss-Prot
NCBI Gene 10369 ENTREZGENE
OMIM 602911 OMIM
PANTHER PTHR12107:SF1 UniProtKB/Swiss-Prot
  VOLTAGE-DEPENDENT CALCIUM CHANNEL GAMMA SUBUNIT UniProtKB/Swiss-Prot
Pfam PMP22_Claudin UniProtKB/Swiss-Prot
PharmGKB PA26016 PharmGKB
PRINTS VDCCGAMMA UniProtKB/Swiss-Prot
  VDCCGAMMA2 UniProtKB/Swiss-Prot
UniProt CCG2_HUMAN UniProtKB/Swiss-Prot
  Q2M1M1 ENTREZGENE
  Q5TGT3 ENTREZGENE
  Q9UGZ7 ENTREZGENE
  Q9Y698 ENTREZGENE
UniProt Secondary Q2M1M1 UniProtKB/Swiss-Prot
  Q5TGT3 UniProtKB/Swiss-Prot
  Q9UGZ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNG2  calcium voltage-gated channel auxiliary subunit gamma 2    calcium channel, voltage-dependent, gamma subunit 2  Symbol and/or name change 5135510 APPROVED