AutismKB 2.0

Annotation Detail for CACNA1F


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA1F ( AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,JM8,JMC8,OA2 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1F subunit
Band: Xp11.23
Quick LinksEntrez ID:778; OMIM: 300110; Uniprot ID:CAC1F_HUMAN; ENSEMBL ID: ENSG00000102001; HGNC ID: 1393
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04912GnRH signaling pathway
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05010Alzheimer's disease
hsa04260Cardiac muscle contraction
Pathway IDPathway Name
Axon guidance
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P04378Beta2 adrenergic receptor signaling pathway
P04391Oxytocin receptor mediated signaling pathway
P04377Beta1 adrenergic receptor signaling pathway
P00044Nicotinic acetylcholine receptor signaling pathway
P043745HT2 type receptor mediated signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1870Drug abuse
2079Optic atrophy
2178Retinal disease
Desease Name
VISION
optic disc atrophy
No data
Desease Name
Cone-rod dystrophy, X-linked, 3
Aland Island eye disease
Night blindness, congenital stationary, X-linked, type 2A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of CACNA1F mRNAaffects expression 18648102
D001464 Barium 3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester promotes the reaction [CACNA1F protein results in increased transport of Barium]increases reaction|increases transport 14744918
D001464 Barium CACNA1F protein results in increased transport of Bariumincreases transport 14744918
D001464 Barium Diltiazem inhibits the reaction [CACNA1F protein results in increased transport of Barium]decreases reaction|increases transport 14744918
D001464 Barium Isradipine inhibits the reaction [CACNA1F protein results in increased transport of Barium]decreases reaction|increases transport 14744918
D001464 Barium Verapamil inhibits the reaction [CACNA1F protein results in increased transport of Barium]decreases reaction|increases transport 14744918
D002118 Calcium CACNA1F protein results in increased transport of Calciumincreases transport 14744918
D004110 Diltiazem Diltiazem inhibits the reaction [CACNA1F protein results in increased transport of Barium]decreases reaction|increases transport 14744918
D017275 Isradipine Isradipine inhibits the reaction [CACNA1F protein results in increased transport of Barium]decreases reaction|increases transport 14744918
D009538 Nicotine Nicotine results in increased expression of CACNA1F mRNAincreases expression 11756415
D001498 3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester 3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester promotes the reaction [CACNA1F protein results in increased transport of Barium]increases reaction|increases transport 14744918
D014700 Verapamil Verapamil inhibits the reaction [CACNA1F protein results in increased transport of Barium]decreases reaction|increases transport 14744918
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.883712494
OMIM:300600 ALAND ISLAND EYE DISEASE marker/mechanism
MESH:D000544 Alzheimer Disease Nicotine 3.3216627626
MESH:D000787 Angina Pectoris Diltiazem 6.9515929820
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4011289319 1440618
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.917505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.329022650 19486331
OMIM:300476 CONE-ROD DYSTROPHY, X-LINKED, 3 marker/mechanism
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.108970840 18759878 11298694 2524372 14531868 11906362 8156756 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.753621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.016482804 8291058 18648102 7440962 18692083 9022650 9653073 1440618 18289764 9328219 11289319 6679447 16192314
MESH:D020821 Dystonic Disorders Nicotine 6.2617881519
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.406705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.307505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.796705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Verapamil 4.2017700361
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.408074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.176582329
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.4216316344
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.339327722 15034207
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.673712494 1399818 6587162 598648
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms Nicotine 3.6416365874
MESH:D009389 Neovascularization, Pathologic Nicotine 5.3316365874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.066679447
OMIM:300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A marker/mechanism
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.654026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.403988306
MESH:D010024 Osteoporosis Calcium 3.9217882678
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.797296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.856228378
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.553692021
MESH:D012640 Seizures Nicotine 3.9517873105
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.066582329 1399818 3712494 6587162 7505956
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Nicotine 4.9016720336 11259349 16785264
MESH:D014029 Tobacco Use Disorder Nicotine 5.7515735609 18305452 18041664 17979512
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.358074119
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
REACT:18266 Axon guidance
KEGG:04020 Calcium signaling pathway
KEGG:04260 Cardiac muscle contraction
KEGG:05414 Dilated cardiomyopathy
KEGG:04912 GnRH signaling pathway
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:04010 MAPK signaling pathway
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00393 blocker Nimodipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB00568 antagonist Cinnarizine Calcium Channel Blockers;Anti-Allergic Agents;Histamine H1 Antagonists
DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
No data
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved