CACNG6
Voltage-dependent calcium channel gamma-6 subunit
Also known as: CCG6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BXT2
- Gene
- CACNG6
- Ensembl
- ENSG00000130433
- Chromosome
- 19
- Canonical length
- 260 aa
- Protein class
- FDA approved drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoli fibrillar center,Cytosol
OverviewNCBI Gene
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 is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
Canonical amino-acid sequenceUniProt
260 residues, UniProt reviewed canonical sequence.
>Q9BXT2|CACNG6
1 MMWSNFFLQE ENRRRGAAGR RRAHGQGRSG LTPEREGKVK LALLLAAVGA TLAVLSVGTE
61 FWVELNTYKA NGSAVCEAAH LGLWKACTKR LWQADVPVDR DTCGPAELPG EANCTYFKFF
121 TTGENARIFQ RTTKKEVNLA AAVIAVLGLA VMALGCLCII MVLSKGAEFL LRVGAVCFGL
181 SGLLLLVSLE VFRHSVRALL QRVSPEPPPA PRLTYEYSWS LGCGVGAGLI LLLGAGCFLL
241 LTLPSWPWGS LCPKRGHRATLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CACNG6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 85 nTPM
- tongue: 28 nTPM
- fallopian tube: 8.2 nTPM
- parathyroid gland: 2.7 nTPM
- lung: 2.2 nTPM
- testis: 2.2 nTPM
Single-cell type
- myonuclei: 102 nCPM
- respiratory ciliated cells: 46 nCPM
- thymic myoid cells: 29 nCPM
- fallopian tube ciliated cells: 15 nCPM
- ependymal cells: 11 nCPM
- endometrial ciliated cells: 8.1 nCPM
Immune cell
- basophil: 13 nTPM
- eosinophil: 8 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 4 nTPM
- spinal cord: 2.1 nTPM
- medulla oblongata: 2 nTPM
- cerebral cortex: 1.8 nTPM
- hippocampal formation: 1.1 nTPM
- hypothalamus: 1.1 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.69
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.32
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium ion transport
- regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PMP-22/EMP/MP20/Claudin
- Voltage-dependent calcium channel, gamma subunit
- PMP-22/EMP/MP20/Claudin tight junction
- Voltage-dependent calcium channel, gamma-6 subunit
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CACNG6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CACNG6 as an antibody target. Whether an autoantibody or antibody against CACNG6 could matter depends on whether native CACNG6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CACNG6 is annotated at the cell surface, where native CACNG6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CACNG6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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