Evidence Detail for SH3TC2

View Evidences View Annotations
Basic Information Top
Gene Symbol:SH3TC2 ( CMT4C,FLJ13605,KIAA1985,MNMN )
Gene Full Name: SH3 domain and tetratricopeptide repeats 2
Band: 5q32
Quick LinksEntrez ID:79628; OMIM: 608206; Uniprot ID:S3TC2_HUMAN; ENSEMBL ID: ENSG00000169247
Sequences Top
Show »

Show »

Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 7 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Vincent, 2008_1 human ---AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: -
  • Evidence Details: We have recently reported the identification of a de novo balanced translocation t(5;18)(q33.1;q12.1) in a boy with autism. The chromosome 5 breakpoint lies at the 3' end of the SH3TC2 gene and distal to beta-adrenergic receptor gene ADRB2 and serotonin receptor gene HTR4.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF