1. Gene
  2. KLHDC8B - kelch domain containing 8B Gene

KLHDC8B - kelch domain containing 8B Gene

Homo sapiens

Also known as CHL

Gene ID: 200942 | Gene type: protein coding

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
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference 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 Reference 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