AutismKB 2.0

Evidence Details for CACNA2D2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA2D2 ( CACNA2D,KIAA0558,LUAC11.1 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Band: 3p21.31
Quick LinksEntrez ID:9254; OMIM: 607082; Uniprot ID:CA2D2_HUMAN; ENSEMBL ID: ENSG00000007402; HGNC ID: 1400
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNA2D2|9254|nucleotide
ATGGCGGTGCCGGCTCGGACCTGCGGCGCCTCTCGGCCCGGCCCAGCGCGGACTGCGCGCCCCTGGCCCGGCTGCGGCCCCCACCCTGGCCCCGGCACCCGGCGC
CCGACGTCCGGGCCCCCGCGCCCGCTGTGGCTGCTGCTGCCGCTTCTACCGCTGCTCGCCGCCCCCGGCGCCTCTGCCTACAGCTTCCCCCAGCAGCACACGATG
CAGCACTGGGCCCGGCGTCTGGAGCAGGAGGTCGACGGCGTGATGCGGATTTTTGGAGGCGTCCAGCAGCTCCGTGAGATTTACAAGGACAACCGGAACCTGTTC
GAGGTACAGGAGAATGAGCCTCAGAAGTTGGTGGAGAAGGTGGCAGGGGACATTGAGAGCCTTCTGGACAGGAAGGTGCAGGCCCTGAAGAGACTGGCTGATGCT
GCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGAGGAAGACATCGTGTACTATGACGCCAAGGCTGACGCTGAGCTGGACGACCCTGAGAGT
GAGGATGTGGAAAGGGGGTCTAAGGCCAGCACCCTAAGGCTGGACTTCATCGAGGACCCAAACTTCAAGAACAAGGTCAACTATTCATACGCGGCTGTACAGATC
CCTACGGACATCTACAAAGGCTCCACTGTCATCCTCAATGAGCTCAACTGGACAGAGGCCCTGGAGAATGTGTTCATGGAAAACCGCAGACAAGACCCCACACTG
CTGTGGCAGGTCTTCGGCAGCGCCACAGGAGTCACTCGCTACTACCCGGCCACCCCGTGGCGAGCCCCCAAGAAGATCGACCTGTACGATGTCCGAAGGAGACCC
TGGTATATCCAGGGGGCCTCGTCACCCAAAGACATGGTCATCATCGTGGATGTGAGTGGCAGTGTGAGCGGCCTGACCCTGAAGCTGATGAAGACATCTGTCTGC
GAGATGCTGGACACGCTGTCTGATGATGACTATGTGAATGTGGCCTCGTTCAACGAGAAGGCACAGCCTGTGTCATGCTTCACACACCTGGTGCAGGCCAATGTG
CGCAACAAGAAGGTGTTCAAGGAAGCTGTGCAGGGCATGGTGGCCAAGGGCACCACAGGCTACAAGGCCGGCTTTGAGTATGCCTTTGACCAGCTGCAGAACTCC
Show »

>CACNA2D2|9254|protein
MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGASAYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLF
EVQENEPQKLVEKVAGDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVERGSKASTLRLDFIEDPNFKNKVNYSYAAVQI
PTDIYKGSTVILNELNWTEALENVFMENRRQDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSGSVSGLTLKLMKTSVC
EMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAVQGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEAKQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVM
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top