KCTD2 (17q25.1) , AD taudin riskigeeni

https://www.ncbi.nlm.nih.gov/gene/23510

Official Symbol

KCTD2provided by HGNC

Official Full Name

potassium channel tetramerization domain containing 2provided by HGNC

Expression

Preferred Names

BTB/POZ domain-containing protein KCTD2

Names

potassium channel tetramerisation domain containing 2

potassium channel tetramerization domain-containing protein 2

Broad expression in testis (RPKM 22.9), brain (RPKM 16.4) and 24 other tissues See more

Related articles in PubMed

1. ATP5H/KCTD2 locus is associated with Alzheimer's disease risk. Boada M, et al. Mol Psychiatry, 2014 Jun. PMID 23857120, Free PMC Article
2. Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. Sidjanin DJ, et al. Genomics, 2003 Feb. PMID 12620391
3. KCTD2, an adaptor of Cullin3 E3 ubiquitin ligase, suppresses gliomagenesis by destabilizing c-Myc. Kim EJ, et al. Cell Death Differ, 2017 Apr. PMID 28060381, Free PMC Article
4. Whole genome association scan for genetic polymorphisms influencing information processing speed. Luciano M, et al. Biol Psychol, 2011 Mar. PMID 21130836, Free PMC Article
5. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. Nagase T, et al. DNA Res, 1996 Feb 29. PMID 8724849

See all (23) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF? By merging results of a meta-GWAS, results in the CHARGE consortium data sets and an in vivo genotyping comprising 4501 individuals, detected a novel locus ATP5H/KCTD2 associated with Alzheimer's disease risk

FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..263
                     /product="BTB/POZ domain-containing protein KCTD2"
                     /note="potassium channel tetramerization domain-containing
                     protein 2; potassium channel tetramerisation domain
                     containing 2"
                     /calculated_mol_wt=28396
     Site            2
                     /site_type="acetylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-acetylalanine. {ECO:0000244|PubMed:22814378,
                     ECO:0000269|Ref.3}; propagated from UniProtKB/Swiss-Prot
                     (Q14681.3)"
     Site            33
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:23186163};
                     propagated from UniProtKB/Swiss-Prot (Q14681.3)"
     Region          74..163
                     /region_name="BTB_2"
                     /note="BTB/POZ domain; pfam02214"
                     /db_xref="CDD:308049"

BTB/POZ domain
In voltage-gated K+ 
channels this domain is responsible for subfamily-specific assembly of 
alpha-subunits into functional tetrameric channels. In KCTD1 this domain
 functions as a transcriptional repressor. It also mediates 
homomultimerisation of 

 and interaction of KCTD1 with the 
transcription factor AP-2-alpha.
     CDS             1..263
                     /gene="KCTD2"
                     /coded_by="NM_015353.3:27..818"
                     /db_xref="CCDS:CCDS32728.1"
                     /db_xref="GeneID:23510"
                     /db_xref="HGNC:HGNC:21294"
                     /db_xref="MIM:613422"
ORIGIN      
        1 maelqldpam aglgggggsg vgdgggpvrg ppsprpagpt prghgrpaaa vaqplepgpg
       61 pperagggga arwvrlnvgg tyfvttrqtl grepksflcr lccqedpeld sdkdetgayl
      121 idrdptyfgp ilnylrhgkl iitkelaeeg vleeaefyni aslvrlvker irdnenrtsq
      181 gpvkhvyrvl qcqeeeltqm vstmsdgwkf eqlisigssy nygnedqaef lcvvsrelnn
      241 stngivieps ekakilqerg srm
//