- Official Symbol
- KCTD13
- Official Full Name
- potassium channel tetramerization domain containing 13provided by HGNC
- Also known as
- PDIP1; FKSG86; BACURD1; POLDIP1; hBACURD1
- Expression
- Broad expression in testis (RPKM 12.8), brain (RPKM 4.9) and 23 other tissues See more
- Preferred Names
- BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1
- Names
- BTB/POZ domain-containing protein KCTD13
- CTD-2574D22.4
- TNFAIP1-like protein
- polymerase delta-interacting protein 1; (PDIP1)
- potassium channel tetramerisation domain containing 13; (KCTD13 )
- Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Degenhardt F, et al. Psychiatr Genet, 2016 Dec. PMID 27668412, Free PMC Article
- The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability. Gimeno-Ferrer F, et al. J Hum Genet, 2019 Mar. PMID 30518945
- KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Golzio C, et al. Nature, 2012 May 16. PMID 22596160, Free PMC Article
- A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen. He H, et al. Proc Natl Acad Sci U S A, 2001 Oct 9. PMID 11593007, Free PMC Article
- Cloning of two rat PDIP1 related genes and their interactions with proliferating cell nuclear antigen. Zhou J, et al. J Exp Zool A Comp Exp Biol, 2005 Mar 1. PMID 15726626
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
- Copy number variations in KCTD13 gene is associated with proximal syndromes with intellectual disability.
- Present study explores the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus.
- data suggest that KCTD13 is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 copy number variants (CNV), and reinforce the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes
- PDIP1 mRNA was expressed in 3T3-L1 adipocytes and THP-1 macrophages
- Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that KCTD13 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with KCTD13
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