Overview
| Alternate Names: | DHPR, alpha-1 subunit; calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle; calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit; voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*; voltage-gated calcium channel alpha subunit Cav1.2 |
|---|---|
| Alternate Symbols: | CACH2; CACN2; CACNL1A1; CCHL1A1; CaV1.2; Cav1.2; MGC120730; TS |
| PharmGKB Accession Id: | PA83 |
Details
| Cytogenetic Location: | chr12 : p13.33 |
|---|---|
| GP mRNA Boundary†: | chr12 : 2032725 - 2672369 |
| GP Gene Boundary†: | chr12 : 2022725 - 2675369 |
| Strand: | plus |
| Product Name: | DHPR, alpha-1 subunit, calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle, calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit, calcium channel, voltage-dependent, L type, alpha 1C subunit, voltage-dependent L-type calcium channel alpha 1C subunit, voltage-gated calcium channel alpha subunit Cav1.2 |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
Curated Annotations (
)
-
rs1006737
at chr12:2215556
in
CACNA1C
A genome-wide association analysis study in 4,387 cases and 6,209 controls identified a strong association of this variant in the CACNA1C gene with bipolar disorder.- Related Diseases:
- Bipolar Disorder
- Evidence:
-
PMID:18711365
-
rs216013
at chr12:2599893
in
CACNA1C
This intronic variant in the membrane calcium-channel gene CACNA1C was correlated with warfarin dose (p = 9.2 × 10−5) in the index population (n = 181) from a GWAS study of white patients undergoing anticoagulation therapy. Combined analysis of the index and replication populations (n = 374) yielded a p value of 8.6 × 10−7. "However, this variant did not reach established significance threshold independently in the replication population (P = .002), nor did it achieve significance after multiple testing correction in multivariate modeling (uncorrected P = .003)".- Related Drugs:
- warfarin
- Evidence:
-
PMID:18535201
-
rs1051375
at chr12:2659140
in
CACNA1C
In a case-control study (258 cases; 774 controls) performed in patients residing in the mainland U.S. or Puerto Rico and who had hypertension and stable coronary artery disease, this SNP was found to be related to primary outcome of atenolol vs. verapamil SR - based treatment. AA genotype was associated with 46% reduction in primary outcome for patients on verapamil SR-based treatment compared to atenolol-based treatment (odds ratio 0.54; 95% CI 0.32 to 0.92), AG genotype showed no difference in primary outcome between the two strategies (odds ratio 1.47; 95% CI 0.86 to 2.53), and GG subjects had more than 4 fold increased risk of primary outcome on verapamil SR-based treatment as opposed to atenolol-based treatment (odds ratio 4.59; 95% CI 1.67 to 12.67). Study size: 258 cases; 774 controls. Study population/ethnicity: subjects residing in the mainland U.S. or Puerto Rico. Type of association: CO; GN; PD. Significance metric(s): P value: P=0.0001.- Related Drugs:
- atenolol, Beta Blocking Agents, calcium channel blockers, verapamil
- Related Diseases:
- Coronary Artery Disease, Death, Death, Sudden, Cardiac, Hypertension, Myocardial Infarction, Stroke
- Evidence:
-
PMID:20031608
Non-Curated Annotations (
)
-
rs216013
at chr12:2599893
in
CACNA1C
GWAS results: A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose (Initial Sample Size: 181 individuals; Replication Sample Size: 374 individuals). This variant is associated with Warfarin maintenance dose.- Related Drugs:
- warfarin
- Evidence:
-
PMID:18535201
http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
antiarrhythmics, class i and iii |
|
Publications, Pathways |
|
Beta Blocking Agents |
|
Publications, Variants |
|
|
calcium channel blockers |
|
Publications, Variants |
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
| Disease | Relationship | Evidence | |
|---|---|---|---|
|
|
Bipolar Disorder |
|
Publications, Variants |
|
|
Coronary Artery Disease |
|
Publications, Variants |
|
|
Death |
|
Publications, Variants |
|
|
Death, Sudden, Cardiac |
|
Publications, Variants |
|
|
Diabetes Mellitus |
|
Pathways |
|
Hypertension |
|
Publications, Variants |
|
|
Myocardial Infarction |
|
Publications, Variants |
|
|
Stroke |
|
Publications, Variants |
|
|
Tobacco Use Disorder |
|
Pathways |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Additional Datasets
These datasets are minimally curated and are sorted alphabetically by title.
LinkOuts
- Entrez Gene ID:
- 775
- OMIM Accession:
- 114205
- 601005
- 611875
- UCSC Genome Browser ID:
- NM_000719
- Ref Seq NM Accession:
- NM_000719
- NM_001129827
- NM_001129829
- NM_001129830
- NM_001129831
- NM_001129832
- NM_001129833
- NM_001129834
- NM_001129835
- NM_001129836
- NM_001129837
- NM_001129838
- NM_001129839
- NM_001129840
- NM_001129841
- NM_001129842
- NM_001129843
- NM_001129844
- NM_001129846
- NM_199460
- Ref Seq NP Accession:
- AAA02500
- AAA17030
- AAA51899
- AAA51900
- AAA51901
- AAA58409
- AAA62832
- AAA74590
- AAB59461
- AAC28649
- AAH93695
- AAI46847
- AAM70049
- AAM98755
- AAT67986
- AAT67987
- AAX37354
- AAX37355
- AAX37356
- BAD92253
- BAH13781
- CAA12174
- CAA81218
- CAA81219
- CAA84340
- CAA84341
- CAA84342
- CAA84343
- CAA84344
- CAA84345
- CAA84346
- CAA84347
- CAA84348
- CAA84349
- CAA84350
- CAA84351
- CAA84352
- CAA84353
- CAA99284
- CAD61168
- CAD61169
- EAW88895
- EAW88896
- EAW88897
- EAW88898
- EAW88899
- EAW88900
- EAW88901
- EAW88902
- EAW88903
- EAW88904
- EAW88905
- EAW88906
- EAW88907
- EAW88908
- EAW88909
- EAW88910
- NP_000710
- NP_001123299
- NP_001123301
- NP_001123302
- NP_001123303
- NP_001123304
- NP_001123305
- NP_001123306
- NP_001123307
- NP_001123308
- NP_001123309
- NP_001123310
- NP_001123311
- NP_001123312
- NP_001123313
- NP_001123314
- NP_001123315
- NP_001123316
- NP_001123318
- NP_955630
- O95234
- Q13936
- Q4G0H8
- Q59GU3
- Q5V9X8
- Q5V9X9
- Q6YL47
- Q86XX0
- Q86XX1
- Ref Seq NT Accession:
- AC_000055
- AC_000144
- NC_000012
- NG_008801
- NT_009759
- NW_001838049
- NW_925295
- UniProtKB Accesssion:
- CAC1C_HUMAN (Q13936)
- Ensembl ID:
- ENSG00000151067
- GenAtlas ID:
- CACNA1C
- GeneCard ID:
- CACNA1C
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.