CACNG4 (calcium voltage-gated channel auxiliary subunit gamma 4) - Rat Genome Database

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Gene: CACNG4 (calcium voltage-gated channel auxiliary subunit gamma 4) Homo sapiens
Analyze
Symbol: CACNG4
Name: calcium voltage-gated channel auxiliary subunit gamma 4
RGD ID: 735495
HGNC Page HGNC
Description: Enables calcium channel regulator activity. Involved in regulation of AMPA receptor activity. Part of L-type voltage-gated calcium channel complex. Biomarker of acute myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium channel, voltage-dependent, gamma subunit 4; MGC11138; MGC24983; neuronal voltage-gated calcium channel gamma-4 subunit; TARP gamma-4; transmembrane AMPAR regulatory protein gamma-4; voltage-dependent calcium channel gamma-4 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
GRCh38.p13 Ensembl1766,964,707 - 67,033,398 (+)EnsemblGRCh38hg38GRCh38
GRCh381766,964,707 - 67,033,398 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371764,960,823 - 65,029,514 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361762,391,475 - 62,459,980 (+)NCBINCBI36hg18NCBI36
Build 341762,391,474 - 62,459,980NCBI
Celera1761,533,692 - 61,602,193 (+)NCBI
Cytogenetic Map17q24.2NCBI
HuRef1760,402,967 - 60,418,125 (+)NCBIHuRef
CHM1_11765,024,942 - 65,093,343 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:11170751   PMID:11738816   PMID:12477932   PMID:14505496   PMID:14702039   PMID:15489334   PMID:17652770   PMID:18304745   PMID:19913121   PMID:20378664   PMID:20628086   PMID:21127204  
PMID:21172611   PMID:21873635   PMID:22779921   PMID:26186194   PMID:27102562   PMID:28514442  


Genomics

Comparative Map Data
CACNG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1766,964,707 - 67,033,398 (+)EnsemblGRCh38hg38GRCh38
GRCh381766,964,707 - 67,033,398 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371764,960,823 - 65,029,514 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361762,391,475 - 62,459,980 (+)NCBINCBI36hg18NCBI36
Build 341762,391,474 - 62,459,980NCBI
Celera1761,533,692 - 61,602,193 (+)NCBI
Cytogenetic Map17q24.2NCBI
HuRef1760,402,967 - 60,418,125 (+)NCBIHuRef
CHM1_11765,024,942 - 65,093,343 (+)NCBICHM1_1
Cacng4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911107,623,183 - 107,685,532 (-)NCBIGRCm39mm39
GRCm39 Ensembl11107,623,183 - 107,685,383 (-)Ensembl
GRCm3811107,732,357 - 107,794,706 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11107,732,357 - 107,794,557 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711107,596,094 - 107,655,778 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611107,550,870 - 107,610,554 (-)NCBImm8
Celera11119,469,632 - 119,528,904 (-)NCBICelera
Cytogenetic Map11E1NCBI
Cacng4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21092,686,100 - 92,745,601 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1095,951,234 - 96,015,499 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01095,954,160 - 96,015,484 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01095,688,305 - 95,746,619 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41097,139,397 - 97,214,444 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11097,153,766 - 97,228,814 (-)NCBI
Celera1091,351,585 - 91,410,600 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Cacng4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554786,219,631 - 6,280,169 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554786,219,637 - 6,278,759 (+)NCBIChiLan1.0ChiLan1.0
CACNG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11766,159,571 - 66,176,442 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01760,900,645 - 60,969,659 (+)NCBIMhudiblu_PPA_v0panPan3
CACNG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1913,449,465 - 13,464,296 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl913,449,450 - 13,462,645 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha914,344,165 - 14,404,358 (-)NCBI
ROS_Cfam_1.0915,112,749 - 15,172,995 (-)NCBI
UMICH_Zoey_3.1914,060,134 - 14,120,341 (-)NCBI
UNSW_CanFamBas_1.0913,413,810 - 13,473,970 (+)NCBI
UU_Cfam_GSD_1.0913,415,469 - 13,475,483 (+)NCBI
Cacng4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560213,107,963 - 13,143,585 (+)NCBI
SpeTri2.0NW_0049365416,051,021 - 6,062,275 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1213,391,078 - 13,452,174 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11213,391,080 - 13,454,542 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21213,761,277 - 13,824,577 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNG4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11654,413,981 - 54,482,707 (-)NCBI
ChlSab1.1 Ensembl1654,413,965 - 54,482,561 (-)Ensembl
Vero_WHO_p1.0NW_02366607725,452,813 - 25,522,456 (-)NCBI
Cacng4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248701,359,937 - 1,419,458 (-)NCBI

Position Markers
RH93006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371765,029,319 - 65,029,444UniSTSGRCh37
Build 361762,459,781 - 62,459,906RGDNCBI36
Celera1761,601,994 - 61,602,119RGD
Cytogenetic Map17q24UniSTS
HuRef1760,417,926 - 60,418,051UniSTS
GeneMap99-GB4 RH Map17421.06UniSTS
SHGC-81981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371765,023,446 - 65,023,718UniSTSGRCh37
Build 361762,453,908 - 62,454,180RGDNCBI36
Celera1761,596,126 - 61,596,398RGD
Cytogenetic Map17q24UniSTS
HuRef1760,412,058 - 60,412,330UniSTS
TNG Radiation Hybrid Map1729202.0UniSTS
CACNG4_503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371765,028,906 - 65,029,590UniSTSGRCh37
Build 361762,459,368 - 62,460,052RGDNCBI36
Celera1761,601,581 - 61,602,265RGD
HuRef1760,417,513 - 60,418,197UniSTS
D20S801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,994,004 - 64,994,104UniSTSGRCh37
Build 361762,424,466 - 62,424,566RGDNCBI36
Celera1761,566,683 - 61,566,783RGD
Cytogenetic Map17q24UniSTS
HuRef1760,382,668 - 60,382,768UniSTS
TNG Radiation Hybrid Map1729180.0UniSTS
Stanford-G3 RH Map172840.0UniSTS
NCBI RH Map17698.4UniSTS
G17986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,993,923 - 64,994,078UniSTSGRCh37
Build 361762,424,385 - 62,424,540RGDNCBI36
Celera1761,566,602 - 61,566,757RGD
Cytogenetic Map17q24UniSTS
HuRef1760,382,587 - 60,382,742UniSTS
SHGC-17632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371765,007,672 - 65,007,816UniSTSGRCh37
Build 361762,438,134 - 62,438,278RGDNCBI36
Celera1761,580,351 - 61,580,494RGD
Cytogenetic Map17q24UniSTS
HuRef1760,396,339 - 60,396,479UniSTS
Stanford-G3 RH Map172881.0UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17704.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2565
Count of miRNA genes:793
Interacting mature miRNAs:919
Transcripts:ENST00000262138
Prediction methods:Microtar, 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.


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 entire extraembryonic component
High
Medium 82 1 25 25 4 19 54 46 2313 26 291 405 12 1
Low 1508 110 308 175 64 58 1220 688 822 75 781 553 123 261 684 2
Below cutoff 798 2161 1205 299 1160 264 2496 1296 561 180 321 590 35 726 1773 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000262138   ⟹   ENSP00000262138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1766,964,707 - 67,033,398 (+)Ensembl
RefSeq Acc Id: NM_014405   ⟹   NP_055220
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381766,964,707 - 67,033,398 (+)NCBI
GRCh371764,960,980 - 65,029,518 (+)ENTREZGENE
Build 361762,391,475 - 62,459,980 (+)NCBI Archive
Celera1761,533,692 - 61,602,193 (+)RGD
HuRef1760,402,967 - 60,418,125 (+)ENTREZGENE
CHM1_11765,024,942 - 65,093,343 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055220   ⟸   NM_014405
- UniProtKB: Q9UBN1 (UniProtKB/Swiss-Prot),   A0A024R8J8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000262138   ⟸   ENST00000262138


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_014405.3(CACNG4):c.717G>A (p.Arg239=) single nucleotide variant Malignant melanoma [RCV000071624] Chr17:67030737 [GRCh38]
Chr17:65026853 [GRCh37]
Chr17:62457315 [NCBI36]
Chr17:17q24.2
not provided
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
GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1 copy number loss See cases [RCV000140815] Chr17:64634771..67686888 [GRCh38]
Chr17:62649313..65683004 [GRCh37]
Chr17:60061351..63113466 [NCBI36]
Chr17:17q24.1-24.2
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
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
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 17q24.2(chr17:64963389-65726146)x3 copy number gain not provided [RCV000683953] Chr17:64963389..65726146 [GRCh37]
Chr17:17q24.2
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
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
GRCh37/hg19 17q24.2(chr17:64985410-64985589)x0 copy number loss not provided [RCV000739644] Chr17:64985410..64985589 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q24.2(chr17:64985410-64985739)x0 copy number loss not provided [RCV000739645] Chr17:64985410..64985739 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1408 AgrOrtholog
COSMIC CACNG4 COSMIC
Ensembl Genes ENSG00000075461 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000262138 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262138 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000075461 GTEx
HGNC ID HGNC:1408 ENTREZGENE
Human Proteome Map CACNG4 Human Proteome Map
InterPro PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_g4su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_gsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27092 ENTREZGENE
OMIM 606404 OMIM
PANTHER PTHR12107:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PMP22_Claudin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26018 PharmGKB
PRINTS VDCCGAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCCGAMMA4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R8J8 ENTREZGENE, UniProtKB/TrEMBL
  CCG4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RCK0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNG4  calcium voltage-gated channel auxiliary subunit gamma 4    calcium channel, voltage-dependent, gamma subunit 4  Symbol and/or name change 5135510 APPROVED