Entity Details

Primary name KLHDC8B
Entity type gene
Source Source Link

Details

PrimaryID200942
RefseqGeneNG_027702
SymbolKLHDC8B
Namekelch domain containing 8B
Chromosome3
Location3p21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-04-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKLD8B_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030496 midbody
GO:0045171 intercellular bridge
GO:0098813 nuclear chromosome segregation
GO:0110070 cellularization cleavage furrow
GO:0140014 mitotic nuclear division
GO:1902410 mitotic cytokinetic process

Diseases

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Disease IDSourceNameDescription
236000 OMIMLymphoma, Hodgkin, classic (CHL)A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed-Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes. Disease susceptibility is associated with variants affecting the gene represented in this entry. A variant in the 5'-UTR of KLHDC8B, responsible for decreasing its expression, is associated with classic Hodgkin lymphoma and segregates with the disease in some families (PubMed:19706467).

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
KLHDC8BCCT7BioGRID, IntAct28514442 details
KLHDC8BCCT3BioGRID, IntAct28514442 details
KLHDC8BIMPDH1BioGRID, IntAct28514442 details