Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23588
Gene name	Kelch domain containing 2
Gene symbol	KLHDC2
Synonyms (NCBI Gene)	HCLP-1HCLP1LCP
Chromosome	14
Chromosome location	14q21.3

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048884	hsa-miR-93-5p	CLASH	23622248
MIRT042902	hsa-miR-324-3p	CLASH	23622248
MIRT138187	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT138188	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1097134	hsa-miR-1322	CLIP-seq
MIRT1097135	hsa-miR-3664-5p	CLIP-seq
MIRT1097136	hsa-miR-4252	CLIP-seq
MIRT1097137	hsa-miR-4677-3p	CLIP-seq
MIRT1097138	hsa-miR-4679	CLIP-seq
MIRT1097139	hsa-miR-4700-3p	CLIP-seq
MIRT1097140	hsa-miR-5095	CLIP-seq
MIRT1097135	hsa-miR-3664-5p	CLIP-seq
MIRT1097136	hsa-miR-4252	CLIP-seq
MIRT1097137	hsa-miR-4677-3p	CLIP-seq
MIRT1097138	hsa-miR-4679	CLIP-seq
MIRT1097139	hsa-miR-4700-3p	CLIP-seq
MIRT2026291	hsa-miR-4708-3p	CLIP-seq
MIRT2026292	hsa-miR-4761-5p	CLIP-seq
MIRT1097140	hsa-miR-5095	CLIP-seq
MIRT2026293	hsa-miR-626	CLIP-seq
MIRT2257413	hsa-miR-1251	CLIP-seq
MIRT1097134	hsa-miR-1322	CLIP-seq
MIRT2257414	hsa-miR-19a	CLIP-seq
MIRT2257415	hsa-miR-19b	CLIP-seq
MIRT2257416	hsa-miR-2117	CLIP-seq
MIRT2257417	hsa-miR-23a	CLIP-seq
MIRT2257418	hsa-miR-23b	CLIP-seq
MIRT2257419	hsa-miR-23c	CLIP-seq
MIRT1097135	hsa-miR-3664-5p	CLIP-seq
MIRT1097136	hsa-miR-4252	CLIP-seq
MIRT2257420	hsa-miR-448	CLIP-seq
MIRT1097137	hsa-miR-4677-3p	CLIP-seq
MIRT1097138	hsa-miR-4679	CLIP-seq
MIRT2257421	hsa-miR-4684-5p	CLIP-seq
MIRT1097139	hsa-miR-4700-3p	CLIP-seq
MIRT2026291	hsa-miR-4708-3p	CLIP-seq
MIRT2257422	hsa-miR-4717-3p	CLIP-seq
MIRT2257423	hsa-miR-4717-5p	CLIP-seq
MIRT2026292	hsa-miR-4761-5p	CLIP-seq
MIRT1097140	hsa-miR-5095	CLIP-seq
MIRT2257424	hsa-miR-548aa	CLIP-seq
MIRT2257425	hsa-miR-552	CLIP-seq
MIRT2026293	hsa-miR-626	CLIP-seq
MIRT2257426	hsa-miR-645	CLIP-seq
MIRT2257427	hsa-miR-764	CLIP-seq
MIRT2257428	hsa-miR-944	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25036637, 28514442, 33961781
GO:0005634	Component	Nucleus	IDA	16964437
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IEA
GO:0031462	Component	Cul2-RING ubiquitin ligase complex	IDA	26138980, 29775578, 29779948, 30526872
GO:0031965	Component	Nuclear membrane	IDA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	26138980
GO:0140627	Process	Ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA	29775578, 29779948, 30526872
GO:0140627	Process	Ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	26138980, 29775578, 29779948, 30526872
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA

MIM	HGNC	e!Ensembl
611280	20231	ENSG00000165516

Q9Y2U9

Protein name

Kelch domain-containing protein 2 (Hepatocellular carcinoma-associated antigen 33) (Host cell factor homolog LCP) (Host cell factor-like protein 1) (HCLP-1)

Protein function

Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their

PDB

6DO3 , 6DO4 , 6DO5 , 8EBL , 8EBM , 8EBN , 8PIF , 8SGE , 8SGF , 8SH2 , 8UXS , 9BC9 , 9BCA , 9BCC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13418	Kelch_4	217 → 266		Repeat
PF13418	Kelch_4	267 → 312		Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with high levels in skeletal muscle, heart, pancreas and liver (PubMed:11384994, PubMed:16964437). Undetectable in peripheral blood leukocytes (PubMed:16964437). {ECO:0000269|PubMed:11384994, ECO:0000269|PubMed:169644

Sequence

MADGNEDLRADDLPGPAFESYESMELACPAERSGHVAVSDGRHMFVWGGYKSNQVRGLYD
FYLPREELWIYNMETGRWKKINTEGDVPPSMSGSCAVCVDRVLYLFGGHHSRGNTNKFYM
LDSRSTDRVLQWERIDCQGIPPSSKDKLGVWVYKNKLIFFGGYGYLPEDKVLGTFEFDET
SFWNSSHPRGWNDHVHILDTETFTWSQPITTGKAPSPRAAHACATVGNRGFVFGGRYRDA
RMNDLHYLNLDTWEWNELIPQGICPVGRSWHSLTPVSSDHLFLFGGFTTDKQPLSDAWTY
CISKNEWIQFNHPYTEKPRLWHTACASDEGEVIVFGGCANNLLVHHRAAHSNEILIFSVQ
PKSLVRLSLEAVICFKEMLANSWNCLPKHLLHSVNQRFGSNNTSGS

Sequence length

406

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carotid Artery Diseases	Carotid artery disease	Pubtator	32160184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28693652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	30187981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29808997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29808997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31195300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31195300		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29094184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22686936, 29808997, 31195300, 31445852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28693652		★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHDC2 (kelch domain containing 2)