CACNA1C (calcium voltage-gated channel subunit alpha1 C)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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775 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Calcium voltage-gated channel subunit alpha1 C |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CACNA1C |
SynonymsGene synonyms aliases
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CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8 |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12p13.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs56394008 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs79891110 |
G>A,T |
Pathogenic, not-provided |
Stop gained, coding sequence variant, intron variant, missense variant |
rs80315385 |
G>A,C |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
rs111606207 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, synonymous variant, missense variant |
rs121912775 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign, pathogenic |
Coding sequence variant, missense variant |
rs121912776 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs141633456 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
rs184684058 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs186741807 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs200330469 |
C>T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs200800133 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs201258230 |
C>A,T |
Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs201345843 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs201756421 |
T>C |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs367895193 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
rs369079645 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs370576211 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs372702466 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs374857905 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, synonymous variant |
rs375534041 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs398123517 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs527741368 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs545511851 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs575583988 |
GAG>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, inframe deletion |
rs587782933 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, intron variant |
rs730880056 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs747654175 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs750459136 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs750835733 |
C>G,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs750998195 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs754527651 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs758786846 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
rs760888275 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs773528195 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs786205745 |
G>A,C |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
rs786205748 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs786205753 |
G>A |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs794727587 |
C>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs797044881 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs886042224 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant |
rs1057517711 |
G>A |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs1467561684 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1555672574 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1555836187 |
A>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs1555968941 |
G>A,C |
Not-provided, likely-pathogenic |
Missense variant, coding sequence variant |
rs1568469857 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1569139160 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q13936 |
Protein name |
Voltage-dependent L-type calcium channel subunit alpha-1C (Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle) (Voltage-gated calcium channel subunit alpha Cav1.2) |
Protein function |
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, PubMed:20953164, PubMed:23677916, PubMed:2472841 |
PDB |
1T0J
,
2BE6
,
2F3Y
,
2F3Z
,
2LQC
,
3G43
,
3OXQ
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5V2P
,
5V2Q
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6C0A
,
6DAD
,
6DAE
,
6DAF
,
6U39
,
6U3A
,
6U3B
,
6U3D
,
7L8V
,
8EOG
,
8EOI
,
8FD7
,
8FHS
,
8HLP
,
8HMA
,
8HMB
,
8UKO
,
8UKP
,
8WE6
,
8WE7
,
8WE8
,
8WE9
,
8WEA
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00520 |
Ion_trans |
123 → 416 |
Ion transport protein |
Family |
PF00520 |
Ion_trans |
523 → 764 |
Ion transport protein |
Family |
PF00520 |
Ion_trans |
899 → 955 |
Ion transport protein |
Family |
PF00520 |
Ion_trans |
951 → 1197 |
Ion transport protein |
Family |
PF00520 |
Ion_trans |
1238 → 1324 |
Ion transport protein |
Family |
PF00520 |
Ion_trans |
1320 → 1535 |
Ion transport protein |
Family |
PF16905 |
GPHH |
1544 → 1597 |
Voltage-dependent L-type calcium channel, IQ-associated |
Family |
PF08763 |
Ca_chan_IQ |
1607 → 1681 |
Voltage gated calcium channel IQ domain |
Domain |
PF16885 |
CAC1F_C |
1701 → 1819 |
Voltage-gated calcium channel subunit alpha, C-term |
Family |
PF16885 |
CAC1F_C |
2080 → 2190 |
Voltage-gated calcium channel subunit alpha, C-term |
Family |
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Sequence |
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Sequence length |
2221 |
Interactions |
View interactions |
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