Description: Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA. RefSeq Summary (NM_173546): This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]. Transcript (Including UTRs) Position: hg19 chr3:49,209,018-49,213,919 Size: 4,902 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr3:49,210,203-49,213,234 Size: 3,032 Coding Exon Count: 5
ID:KLD8B_HUMAN DESCRIPTION: RecName: Full=Kelch domain-containing protein 8B; SUBCELLULAR LOCATION: Cytoplasm. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linking daughter cells as they are about to separate during cytokinesis. DEVELOPMENTAL STAGE: Transcribed predominantly during S phase, translated exclusively during mitosis and cytokinesis and rapidly degraded after cell division. DISEASE: Defects in KLHDC8B are a cause of Hodgkin lymphoma (HL) [MIM:236000]. 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. Note=A chromosomal aberration disrupting KLHDC8B has been found in a family with the nodular sclerosis type of classic Hodgkin lymphoma. Translocation t(2,3)(q11.2;p21.31). SIMILARITY: Contains 8 Kelch repeats.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): KLHDC8B CDC HuGE Published Literature: KLHDC8B Positive Disease Associations: Menarche Related Studies:
Menarche Cathy E Elks et al. Nature genetics 2010, Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies., Nature genetics.
[PubMed 21102462]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 50965 - Galactose oxidase, central domain
ModBase Predicted Comparative 3D Structure on Q8IXV7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
