Kelch Repeat- and BTB Domain-Containing Protein 2

Alternative Names

  • KBTBD2
Back to search Result
OMIM Number

619393

NCBI Gene ID

25948

Uniprot ID

Q8IY47

Length

23,995 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Kelch repeat and BTB domain-containing protein 2

Molecular Mass

71331 Da

Amino Acid Count

623

Genomic Location

chr7:32,868,171-32,892,165

Gene Map Locus
7p14.3

Description

KBTBD2 is the substrate recognition subunit of a CUL3-based E3 ubiquitin ligase. KBTBD2 targets p85-alpha, the regulatory subunit of phosphatidylinositol 3-kinase (PI3K), for ubiquitination and proteasome-mediated degradation. [From OMIM]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015483.2:c.171-435G>TUnited Arab EmiratesNC_000007.14:g.32875592C>ANM_015483.2:c.171-435G>T; NP_056298.2:p.?7785065
© CAGS 2024. All rights reserved.