KLHDC8B - kelch domain containing 8B Gene

Also Known as CHL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 200942

About KLHDC8B

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,171,598-49,176,486 (from NCBI)

This gene has 5 transcripts (splice variants), 125 orthologues, 54 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 31.3), ovary (RPKM 23.4) and 23 other tissues.

Summary

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]

KLHDC8B Products (1)

mRNA Protein Name
NM_173546.3 NP_775817.1 kelch domain-containing protein 8B
Biological Process GO Annotation Evidence References Source
involved in mitotic cytokinetic process IMP
IMP: Inferred from mutant phenotype
20107318 GOA
involved in mitotic nuclear division IMP
IMP: Inferred from mutant phenotype
20107318 GOA
involved in nuclear chromosome segregation IMP
IMP: Inferred from mutant phenotype
22988245 GOA
Cellular Component GO Annotation Evidence References Source
located in cellularization cleavage furrow IDA
IDA: Inferred from direct assay
20107318 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
20107318 GOA
located in intercellular bridge IDA
IDA: Inferred from direct assay
20107318 GOA
located in midbody IDA
IDA: Inferred from direct assay
20107318 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHDC8B Protein Structure

Kelch_3

Kelch_3: Galactose oxidase, central domain (31 - 76)

Kelch_1

Kelch_1: Kelch motif (118 - 162)

Kelch_4

Kelch_4: Galactose oxidase, central domain (165 - 210)

Kelch_1

Kelch_1: Kelch motif (211 - 262)

Kelch_6

Kelch_6: Kelch motif (273 - 319)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
Protein Preferred Names Protein Names

kelch domain-containing protein 8B

Related Diseases

Diseases Alias
Lymphoma, Hodgkin, Classic
  • Hodgkin Lymphoma

  • Hodgkin Disease

  • Hodgkin'S Lymphoma

  • Hodgkins Lymphoma

  • Classic Hodgkin Lymphoma

  • CHL

  • Hodgkin Lymphoma, Susceptibility To

  • Hl

  • Hodgkin'S Sarcoma

  • Stage I Subdiaphragmatic Hodgkin Lymphoma

  • Stage Ii Subdiaphragmatic Hodgkin Lymphoma

  • Lymphoma, Hodgkin'S

  • Classic Hodgkin Disease

  • Hodgkin'S Disease

  • Lymphoma, Hodgkin, Susceptibility To

  • Hodgkin'S Disease Of Intrapelvic Lymph Nodes

  • Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

  • Malignant Lymphogranuloma

  • Malignant Lymphogranulomatosis

  • Malignant Hodgkin Lymphoma

  • Classical Hodgkin Lymphoma, Type Not Specified

Hodgkin'S Lymphoma, Nodular Sclerosis
  • Classical Hodgkin Lymphoma, Nodular Sclerosis

  • Classic Hodgkin Lymphoma, Nodular Sclerosis Type

  • Nodular Sclerosis Hodgkin Lymphoma

  • Hodgkin'S Disease, Nodular Sclerosis

  • Hodgkin Disease, Nodular Sclerosis

  • Hodgkin Lymphoma, Nodular Sclerosis

  • Hodgkin Nodular Sclerosis

Lymphoma
  • Lymphoid Cancer

  • Lymphomas

  • Lymphoid Cancers

  • Lymphoid Neoplasm

  • Lymphoma Nos

  • Nhl - [Non-Hodgkin Lymphoma]

  • Non-Hodgkin Lymphoma

  • Non-Hodgkin Lymphoma, Nos

  • Non-Hodgkin Malignant Lymphoma Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris KLHDC8B VGNC VGNC:42444
Macaca mulatta KLHDC8B VGNC VGNC:74142
Rattus norvegicus KLHDC8B RGD RGD:1359445
Bos taurus KLHDC8B VGNC VGNC:30640
Felis catus KLHDC8B VGNC VGNC:63140
Mus musculus KLHDC8B MGD MGI:1925517
Others KLHDC8B NCBI