• Gene id: 786

Gene Summary

• Gene Symbol: CACNG1   Gene   UCSC   Ensembl
• Aliases: CACNLG
• Gene name: calcium voltage-gated channel auxiliary subunit gamma 1
• Alternate names: voltage-dependent calcium channel gamma-1 subunit, L-type calcium channel gamma polypeptide, calcium channel, voltage-dependent, gamma subunit 1, dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma, neuronal dihydropyridine-sensiti,
• Gene location: 17q24.2 (67044553: 67056796)     Exons: 4     NC_000017.11
• Gene summary(Entrez): Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydr
• OMIM: 602993

SNPs

rs4804490

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156335C>A
NC_000019.9   g.10267011C>A
NG_028016.3   g.79952G>T|SEQ=[C/A]|GENE=DNMT1

rs16999593

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10180505T>C
NC_000019.9   g.10291181T>C
NG_028016.3   g.55782A>G
NM_001379.4   c.290A>G
NM_001379.3   c.290A>G
NM_001379.2   c.290A>G
NM_001130823.3   c.290A>G
NM_001130823.2   c.290A>G
NM_001130823.1   c.290A>G
NM_001318730.2   c.290A>G
NM_001318730.1  

rs2228612

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10162696T>A
NC_000019.10   g.10162696T>C
NC_000019.10   g.10162696T>G
NC_000019.9   g.10273372T>A
NC_000019.9   g.10273372T>C
NC_000019.9   g.10273372T>G
NG_028016.3   g.73591A>T
NG_028016.3   g.73591A>G
NG_028016.3   g.73591A>C
NM_001379.4   c.931A>T
N  

rs2228611

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156401T>A
NC_000019.10   g.10156401T>C
NC_000019.9   g.10267077T>A
NC_000019.9   g.10267077T>C
NG_028016.3   g.79886A>T
NG_028016.3   g.79886A>G
NM_001379.4   c.1341A>T
NM_001379.4   c.1341A>G
NM_001379.3   c.1341A>T
NM_001379.3   c.1341A>G
NM_001379.  

Protein Summary

• Protein general information: Q06432  
  • Name: Voltage dependent calcium channel gamma 1 subunit (Dihydropyridine sensitive L type, skeletal muscle calcium channel subunit gamma)
  • Length: 222  
  • Mass: 25028
  • Tissue specificity: Skeletal muscle. {ECO
• Sequence:

  MSQTKMLKVRVTLFCILAGIVLAMTAVVTDHWAVLSPHMEHHNTTCEAAHFGLWRICTKRIPMDDSKTCGPITLP
  GEKNCSYFRHFNPGESSEIFEFTTQKEYSISAAAIAIFSLGFIILGSLCVLLSLGKKRDYLLRPASMFYAFAGLC
  ILVSVEVMRQSVKRMIDSEDTVWIEYYYSWSFACACAAFILLFLGGLALLLFSLPRMPRNPWESCMDAEPEH

• Structural information:
  • Interpro: IPR004031  IPR005421  IPR008368  
  • STRING: ENSP00000226021
• Other Databases: GeneCards:  CACNG1  Malacards:  CACNG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902514	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IBA	biological process
GO:0005246	calcium channel regulator activity	IBA	molecular function
GO:1990454	L-type voltage-gated calcium channel complex	IBA	cellular component
GO:1902514	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0005246	calcium channel regulator activity	ISS	molecular function
GO:0030315	T-tubule	ISS	cellular component
GO:0042383	sarcolemma	ISS	cellular component
GO:1990454	L-type voltage-gated calcium channel complex	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0070296	sarcoplasmic reticulum calcium ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04921	Oxytocin signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R