KLHDC2 - kelch domain containing 2 Gene

Homo sapiens

Also known as LCP; HCLP1; HCLP-1

Gene ID: 23588 | Gene type: protein coding

About KLHDC2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,768,153-49,786,385 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and 10 paralogues. Ubiquitous expression in thyroid (RPKM 22.9), kidney (RPKM 22.5) and 25 other tissues.

Summary

Enables ubiquitin ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nuclear body and nuclear membrane. Is active in Cul2-RING ubiquitin Ligase complex and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

KLHDC2 Products(1)

mRNA	Protein	Name
NM_014315.3	NP_055130.1	kelch domain-containing protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25036637	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	26138980	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	26138980	GOA
involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA IDA: Inferred from direct assay	29775578	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul2-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	26138980	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	16964437	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

KLHDC2 Protein Structure

Kelch_4

0
100
200
300
406 a.a.

Protein Preferred Names

Protein Names

kelch domain-containing protein 2

hepatocellular carcinoma-associated antigen 33

Related Diseases

Diseases

Alias

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Arrhythmogenic Right Ventricular Dysplasia 3	ARVD3
Arrhythmogenic Right Ventricular Cardiomyopathy 3	Arvc3
Familial Arrhythmogenic Right Ventricular Dysplasia 3	Arrhythmogenic Right Ventricular Dysplasia-3

Ventriculomegaly With Cystic Kidney Disease

VMCKD	Cystic Kidney Disease With Ventriculomegaly
Ventriculomegaly-Cystic Kidney Disease	Ventriculomegaly - Cystic Kidney Disease
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Bardet-Biedl Syndrome 5

BBS5	Bardet-Biedl Syndrome, Type 5

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

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

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-157491	K2-B4-5e	Degrader	/	Unkown
HY-157558	KDRLKZ-1		/	Unkown
HY-157559	KDRLKZ-2		/	Unkown
HY-157560	KDRLKZ-3		/	Unkown
HY-168535	SJ6145		/	Unkown
HY-168536	SJ46411		/	Unkown
HY-168634	SJ46421	Inhibitor	/	Unkown
HY-168635	SJ46420	Inhibitor	/	Unkown
HY-RS07348	KLHDC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-168646	SJ46411-Br		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KLHDC2	VGNC	VGNC:63136
Macaca mulatta	KLHDC2	VGNC	VGNC:74087
Rattus norvegicus	KLHDC2	RGD	RGD:1306504
Canis familiaris	KLHDC2	VGNC	VGNC:42441
Mus musculus	KLHDC2	MGD	MGI:1916804
Bos taurus	KLHDC2	VGNC	VGNC:30635
Others	KLHDC2	NCBI

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