AutismKB 2.0

Evidence Details for CACNA2D2


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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
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>CACNA2D2|9254|protein
MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGASAYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLF
EVQENEPQKLVEKVAGDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVERGSKASTLRLDFIEDPNFKNKVNYSYAAVQI
PTDIYKGSTVILNELNWTEALENVFMENRRQDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSGSVSGLTLKLMKTSVC
EMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAVQGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEAKQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVM
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Evidence summary Top

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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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