Property Summary

NCBI Gene PubMed Count 9
Grant Count 2
Funding $216,412
PubMed Score 44.15
PubTator Score 7.39

Knowledge Summary

Patent (4,078)

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.409 0.005
atypical teratoid / rhabdoid tumor 1.200 0.003
glioblastoma 1.300 0.000
medulloblastoma 1.400 0.050
medulloblastoma, large-cell 2.900 0.000
active Crohn's disease -1.045 0.027
adult high grade glioma 1.500 0.001
pituitary cancer 4.100 0.000

Synonym

Accession Q7Z3S7 Q7Z3S8 Q86XZ5 Q8IZS9
Symbols RCD4

Gene

 Grant Application (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).
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