AutismKB 2.0

Evidence Details for PRKD2


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Basic Information Top
Gene Symbol:PRKD2 ( PKD2 )
Gene Full Name: protein kinase D2
Band: 19q13.2
Quick LinksEntrez ID:25865; OMIM: 607074; Uniprot ID:KPCD2_HUMAN; ENSEMBL ID: ENSG00000105287; HGNC ID: 17293
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKD2|25865|nucleotide
ATGGCCACCGCCCCCTCTTATCCCGCCGGGCTCCCTGGCTCTCCCGGGCCGGGGTCTCCTCCGCCCCCCGGCGGCCTAGAGCTGCAGTCGCCGCCACCGCTACTG
CCCCAGATCCCGGCCCCGGGTTCCGGGGTCTCCTTTCACATCCAGATCGGGCTGACCCGCGAGTTCGTGCTGTTGCCCGCCGCCTCCGAGCTGGCTCATGTGAAG
CAGCTGGCCTGTTCCATCGTGGACCAGAAGTTCCCTGAGTGTGGCTTCTACGGCCTTTACGACAAGATCCTGCTTTTCAAACATGACCCCACGTCGGCCAACCTC
CTGCAGCTGGTGCGCTCGTCCGGAGACATCCAGGAGGGCGACCTGGTGGAGGTGGTGCTGTCGGCCTCGGCCACCTTCGAGGACTTCCAGATCCGCCCGCACGCC
CTCACGGTGCACTCCTATCGGGCGCCTGCCTTCTGTGATCACTGCGGGGAGATGCTCTTCGGCCTAGTGCGCCAGGGCCTCAAGTGCGATGGCTGCGGGCTGAAC
TACCACAAGCGCTGTGCCTTCAGCATCCCCAACAACTGTAGTGGGGCCCGCAAACGGCGCCTGTCATCCACGTCTCTGGCCAGTGGCCACTCGGTGCGCCTCGGC
ACCTCCGAGTCCCTGCCCTGCACGGCTGAAGAGCTGAGCCGTAGCACCACCGAACTCCTGCCTCGCCGTCCCCCGTCATCCTCTTCCTCCTCTTCTGCCTCATCG
TATACGGGCCGCCCCATTGAGCTGGACAAGATGCTGCTCTCCAAGGTCAAGGTGCCGCACACCTTCCTCATCCACAGCTATACACGGCCCACCGTTTGCCAGGCT
TGCAAGAAACTCCTCAAGGGCCTCTTCCGGCAGGGCCTGCAATGCAAAGACTGCAAGTTTAACTGTCACAAACGCTGCGCCACCCGCGTCCCTAATGACTGCCTG
GGGGAGGCCCTTATCAATGGAGATGTGCCGATGGAGGAGGCCACCGATTTCAGCGAGGCTGACAAGAGCGCCCTCATGGATGAGTCAGAGGACTCCGGTGTCATC
CCTGGCTCCCACTCAGAGAATGCGCTCCACGCCAGTGAGGAGGAGGAAGGCGAGGGAGGCAAGGCCCAGAGCTCCCTGGGGTACATCCCCCTAATGAGGGTGGTG
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>PRKD2|25865|protein
MATAPSYPAGLPGSPGPGSPPPPGGLELQSPPPLLPQIPAPGSGVSFHIQIGLTREFVLLPAASELAHVKQLACSIVDQKFPECGFYGLYDKILLFKHDPTSANL
LQLVRSSGDIQEGDLVEVVLSASATFEDFQIRPHALTVHSYRAPAFCDHCGEMLFGLVRQGLKCDGCGLNYHKRCAFSIPNNCSGARKRRLSSTSLASGHSVRLG
TSESLPCTAEELSRSTTELLPRRPPSSSSSSSASSYTGRPIELDKMLLSKVKVPHTFLIHSYTRPTVCQACKKLLKGLFRQGLQCKDCKFNCHKRCATRVPNDCL
GEALINGDVPMEEATDFSEADKSALMDESEDSGVIPGSHSENALHASEEEEGEGGKAQSSLGYIPLMRVVQSVRHTTRKSSTTLREGWVVHYSNKDTLRKRHYWR
LDCKCITLFQNNTTNRYYKEIPLSEILTVESAQNFSLVPPGTNPHCFEIVTANATYFVGEMPGGTPGGPSGQGAEAARGWETAIRQALMPVILQDAPSAPGHAPH
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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 (0) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Hashimoto R, 2016 30 - 38 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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