• Gene id: 59285

Gene Summary

• Gene Symbol: CACNG6   Gene   UCSC   Ensembl
• Gene name: calcium voltage-gated channel auxiliary subunit gamma 6
• Alternate names: voltage-dependent calcium channel gamma-6 subunit, calcium channel, voltage-dependent, gamma subunit 6, neuronal voltage-gated calcium channel gamma-6 subunit,
• Gene location: 19q13.42 (53991148: 54012665)     Exons: 6     NC_000019.10
• 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 an integral membrane protein that
• OMIM: 606898

Protein Summary

• Protein general information: Q9BXT2  
  • Name: Voltage dependent calcium channel gamma 6 subunit (Neuronal voltage gated calcium channel gamma 6 subunit)
  • Length: 260  
  • Mass: 28129
  • Tissue specificity: Detected in heart left ventricle. {ECO
• Sequence:

  MMWSNFFLQEENRRRGAAGRRRAHGQGRSGLTPEREGKVKLALLLAAVGATLAVLSVGTEFWVELNTYKANGSAV
  CEAAHLGLWKACTKRLWQADVPVDRDTCGPAELPGEANCTYFKFFTTGENARIFQRTTKKEVNLAAAVIAVLGLA
  VMALGCLCIIMVLSKGAEFLLRVGAVCFGLSGLLLLVSLEVFRHSVRALLQRVSPEPPPAPRLTYEYSWSLGCGV
  GAGLILLLGAGCFLLLTLPSWPWGSLCPKRGHRAT

• Structural information:
  • Interpro: IPR004031  IPR008370  IPR008368  
  • STRING: ENSP00000252729
• Other Databases: GeneCards:  CACNG6  Malacards:  CACNG6

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:0005246	calcium channel regulator activity	IDA	molecular function
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
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:0005886	plasma membrane	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	NAS	cellular component
GO:0006816	calcium ion transport	NAS	biological process
GO:0005245	voltage-gated calcium channel activity	NAS	molecular function

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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881