Property Summary

NCBI Gene PubMed Count 9
PubMed Score 44.15
PubTator Score 7.39

Knowledge Summary

Patent (4,078)

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.409 5.4e-03
atypical teratoid / rhabdoid tumor 1.200 3.1e-03
glioblastoma 1.300 2.4e-04
medulloblastoma 1.400 5.0e-02
medulloblastoma, large-cell 2.900 3.9e-06
active Crohn's disease -1.045 2.7e-02
adult high grade glioma 1.500 6.4e-04
pituitary cancer 4.100 1.4e-10

 MGI Phenotype (1)

Protein-protein Interaction (2)

Gene RIF (4)

PMID Text
26560832 This report describes a distinctive ERG phenotype, predominantly involving the cone pathways, in 2 unrelated patients from different ethnic backgrounds with homozygous mutations in CACNA2D4 and normal retinal imaging
22488967 A rare, partial deletion of 35.7 kb in CACNA2D4 in two unrelated late onset bipolar I patients and in one control individual, were identified.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
12181424 Calcium channel alpha(2)delta-4 subunit has limited distribution in special cell types of the pituitary, adrenal gland, colon, and fetal liver.

AA Sequence

MVCGCSALLPLPNPRPTMPATPNFLANPSSSSRWIPLQPMPVAWAFVQKTSALLWLLLLGTSLSPAWGQA      1 - 70
KIPLETVKLWADTFGGDLYNTVTKYSGSLLLQKKYKDVESSLKIEEVDGLELVRKFSEDMENMLRRKVEA     71 - 140
VQNLVEAAEEADLNHEFNESLVFDYYNSVLINERDEKGNFVELGAEFLLESNAHFSNLPVNTSISSVQLP    141 - 210
TNVYNKDPDILNGVYMSEALNAVFVENFQRDPTLTWQYFGSATGFFRIYPGIKWTPDENGVITFDCRNRG    211 - 280
WYIQAATSPKDIVILVDVSGSMKGLRMTIAKHTITTILDTLGENDFINIIAYNDYVHYIEPCFKGILVQA    281 - 350
DRDNREHFKLLVEELMVKGVGVVDQALREAFQILKQFQEAKQGSLCNQAIMLISDGAVEDYEPVFEKYNW    351 - 420
PDCKVRVFTYLIGREVSFADRMKWIACNNKGYYTQISTLADTQENVMEYLHVLSRPMVINHDHDIIWTEA    421 - 490
YMDSKLLSSQAQSLTLLTTVAMPVFSKKNETRSHGILLGVVGSDVALRELMKLAPRYKLGVHGYAFLNTN    491 - 560
NGYILSHPDLRPLYREGKKLKPKPNYNSVDLSEVEWEDQAESLRTAMINRETGTLSMDVKVPMDKGKRVL    561 - 630
FLTNDYFFTDISDTPFSLGVVLSRGHGEYILLGNTSVEEGLHDLLHPDLALAGDWIYCITDIDPDHRKLS    631 - 700
QLEAMIRFLTRKDPDLECDEELVREVLFDAVVTAPMEAYWTALALNMSEESEHVVDMAFLGTRAGLLRSS    701 - 770
LFVGSEKVSDRKFLTPEDEASVFTLDRFPLWYRQASEHPAGSFVFNLRWAEGPESAGEPMVVTASTAVAV    771 - 840
TVDKRTAIAAAAGVQMKLEFLQRKFWAATRQCSTVDGPCTQSCEDSDLDCFVIDNNGFILISKRSRETGR    841 - 910
FLGEVDGAVLTQLLSMGVFSQVTMYDYQAMCKPSSHHHSAAQPLVSPISAFLTATRWLLQELVLFLLEWS    911 - 980
VWGSWYDRGAEAKSVFHHSHKHKKQDPLQPCDTEYPVFVYQPAIREANGIVECGPCQKVFVVQQIPNSNL    981 - 1050
LLLVTDPTCDCSIFPPVLQEATEVKYNASVKCDRMRSQKLRRRPDSCHAFHPEENAQDCGGASDTSASPP   1051 - 1120
LLLLPVCAWGLLPQLLR                                                        1121 - 1137
//

Text Mined References (12)

PMID Year Title
26560832 2016 Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
23942779 2013 A genome-wide association study of behavioral disinhibition.
22488967 2012 Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17033974 2006 Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
16541075 2006 The finished DNA sequence of human chromosome 12.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12181424 2002 Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.