KBTBD2 - kelch repeat and BTB domain containing 2 Gene

Also Known as BKLHD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25948

About KBTBD2

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:32,868,172-32,892,166 (from NCBI)

This gene has 7 transcripts (splice variants), 209 orthologues and 54 paralogues. Ubiquitous expression in gall bladder (RPKM 16.7), bone marrow (RPKM 14.7) and 25 other tissues.

Summary

Predicted to act upstream of or within with a positive effect on several processes, including glucose metabolic process; phosphatidylinositol 3-kinase signaling; and response to Insulin. [provided by Alliance of Genome Resources, Apr 2022]

KBTBD2 Products (1)

mRNA	Protein	Name
NM_015483.3	NP_056298.2	kelch repeat and BTB domain-containing protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	27708159	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	27708159	GOA
involved in regulation of cellular response to insulin stimulus	IDA IDA: Inferred from direct assay	27708159	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytoplasm	IDA IDA: Inferred from direct assay	27708159	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

KBTBD2 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
623 a.a.

Protein Preferred Names	Protein Names
kelch repeat and BTB domain-containing protein 2	BTB and kelch domain containing 1

Related Diseases

Diseases	Alias
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07093	KBTBD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KBTBD2	VGNC	VGNC:63032
Rattus norvegicus	KBTBD2	RGD	RGD:1310317
Macaca mulatta	KBTBD2	VGNC	VGNC:73881
Mus musculus	KBTBD2	MGD	MGI:2384811
Canis familiaris	KBTBD2	VGNC	VGNC:42223
Bos taurus	KBTBD2	VGNC	VGNC:30415
Others	KBTBD2	NCBI