AutismKB 2.0

Annotation Detail for CACNA2D4


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Basic Information Top
Gene Symbol:CACNA2D4 ( RCD4 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 4
Band: 12p13.33
Quick LinksEntrez ID:93589; OMIM: 608171; Uniprot ID:CA2D4_HUMAN; ENSEMBL ID: ENSG00000151062; HGNC ID: 20202
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa04260Cardiac muscle contraction
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Related Diseases/Disorders Top
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Desease Name
Retinal cone dystrophy 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D018038 Sodium Selenite Sodium Selenite results in decreased expression of CACNA2D4 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D019457 Chromosome Breakage Sodium Selenite 5.6615894690
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.3016285004
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3915131321
MESH:D007333 Insulin Resistance Sodium Selenite 3.6014714311
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.7614737004
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3218760546
OMIM:610478 RETINAL CONE DYSTROPHY 4 marker/mechanism
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG:04260 Cardiac muscle contraction
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:04010 MAPK signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA130546913
    • No data
    No data
    Releated drug ID Related drug Name
    PA452249antiarrhythmics, class i and iii
    Drug Bank Top

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    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


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