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KLHDC2 - kelch domain containing 2 Gene

Also Known as LCP; HCLP1; HCLP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23588

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	References	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	References	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	References	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

KLHDC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KLHDC2	Q9Y2U9	NUDCD3	Homo sapiens	Q8IVD9	Anti Tag CoIP	33961781
Intra	KLHDC2	Q9Y2U9	NUDCD3	Homo sapiens	Q8IVD9	Anti Tag CoIP	28514442
Intra	KLHDC2	Q9Y2U9	NUDCD3	Homo sapiens	Q8IVD9	Lumier	25036637

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Purity	Rare Diseases
HY-168536	SJ46411	/	Unkown
HY-180280	KLHDC2 ligand 3	/	Unkown
HY-180263	KLHDC2 ligand 4	/	Unkown
HY-168535	SJ6145	/	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