AutismKB 2.0

Evidence Details for CCND2


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Basic Information Top
Gene Symbol:CCND2 ( KIAK0002,MGC102758 )
Gene Full Name: cyclin D2
Band: 12p13.32
Quick LinksEntrez ID:894; OMIM: 123833; Uniprot ID:CCND2_HUMAN; ENSEMBL ID: ENSG00000118971; HGNC ID: 1583
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCND2|894|nucleotide
ATGGAGCTGCTGTGCCACGAGGTGGACCCGGTCCGCAGGGCCGTGCGGGACCGCAACCTGCTCCGAGACGACCGCGTCCTGCAGAACCTGCTCACCATCGAGGAG
CGCTACCTTCCGCAGTGCTCCTACTTCAAGTGCGTGCAGAAGGACATCCAACCCTACATGCGCAGAATGGTGGCCACCTGGATGCTGGAGGTCTGTGAGGAACAG
AAGTGCGAAGAAGAGGTCTTCCCTCTGGCCATGAATTACCTGGACCGTTTCTTGGCTGGGGTCCCGACTCCGAAGTCCCATCTGCAACTCCTGGGTGCTGTCTGC
ATGTTCCTGGCCTCCAAACTCAAAGAGACCAGCCCGCTGACCGCGGAGAAGCTGTGCATTTACACCGACAACTCCATCAAGCCTCAGGAGCTGCTGGAGTGGGAA
CTGGTGGTGCTGGGGAAGTTGAAGTGGAACCTGGCAGCTGTCACTCCTCATGACTTCATTGAGCACATCTTGCGCAAGCTGCCCCAGCAGCGGGAGAAGCTGTCT
CTGATCCGCAAGCATGCTCAGACCTTCATTGCTCTGTGTGCCACCGACTTTAAGTTTGCCATGTACCCACCGTCGATGATCGCAACTGGAAGTGTGGGAGCAGCC
ATCTGTGGGCTCCAGCAGGATGAGGAAGTGAGCTCGCTCACTTGTGATGCCCTGACTGAGCTGCTGGCTAAGATCACCAACACAGACGTGGATTGTCTCAAAGCT
TGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACC
CCTACAGACGTGCGGGATATCGACCTGTGA


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>CCND2|894|protein
MELLCHEVDPVRRAVRDRNLLRDDRVLQNLLTIEERYLPQCSYFKCVQKDIQPYMRRMVATWMLEVCEEQKCEEEVFPLAMNYLDRFLAGVPTPKSHLQLLGAVC
MFLASKLKETSPLTAEKLCIYTDNSIKPQELLEWELVVLGKLKWNLAAVTPHDFIEHILRKLPQQREKLSLIRKHAQTFIALCATDFKFAMYPPSMIATGSVGAA
ICGLQQDEEVSSLTCDALTELLAKITNTDVDCLKACQEQIEAVLLNSLQQYRQDQRDGSKSEDELDQASTPTDVRDIDL


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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
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
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Melin, 2006_1 Sweden lymphoblastoid cell lines 6
(50.00%)
-autism 6
(50.00%)
0 Down 0.095
  • Platform: In-house produced cDNA microarrays
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: two-class SAM (siginificance Analysis of Microarray) based on a modified t-test
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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