DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Literature associating KCTD5 and branchiooculofacial syndrome

KCTD5 [ENSP00000301738]

Potassium channel tetramerization domain containing 5; Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex. Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4.

Synonyms:  KCTD5,  KCTD5p,  hKCTD5,  H3BSS5,  Q9NXV2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.