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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27252
Gene name	Kelch like family member 20
Gene symbol	KLHL20
Synonyms (NCBI Gene)	KHLHXKLEIPKLHLX
Chromosome	1
Chromosome location	1q25.1
Summary	The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact

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Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016632	hsa-miR-429	Reporter assay	20005803
MIRT020343	hsa-miR-200a-3p	Reporter assay	20005803
MIRT021066	hsa-miR-200c-3p	Reporter assay	20005803
MIRT021655	hsa-miR-141-3p	Reporter assay	20005803
MIRT024121	hsa-miR-200b-3p	Reporter assay	20005803
MIRT448701	hsa-miR-4635	PAR-CLIP	22100165
MIRT448700	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT131606	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT448699	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT448701	hsa-miR-4635	PAR-CLIP	22100165
MIRT448700	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT131606	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT448699	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT182504	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442674	hsa-miR-5680	PAR-CLIP	22100165
MIRT182505	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT182508	hsa-miR-8067	PAR-CLIP	22100165
MIRT442673	hsa-miR-8078	PAR-CLIP	22100165
MIRT231332	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT060685	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT060678	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT060685	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT060675	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT060688	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT060679	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT060692	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT060676	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT060677	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT060678	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT448701	hsa-miR-4635	PAR-CLIP	22100165
MIRT448700	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT131606	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT448699	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT448701	hsa-miR-4635	PAR-CLIP	22100165
MIRT448700	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT131606	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT448699	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT182504	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442674	hsa-miR-5680	PAR-CLIP	22100165
MIRT182505	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT182508	hsa-miR-8067	PAR-CLIP	22100165
MIRT442673	hsa-miR-8078	PAR-CLIP	22100165
MIRT231332	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT1097779	hsa-miR-106a	CLIP-seq
MIRT1097780	hsa-miR-106b	CLIP-seq
MIRT1097781	hsa-miR-1237	CLIP-seq
MIRT1097782	hsa-miR-1253	CLIP-seq
MIRT1097783	hsa-miR-130a	CLIP-seq
MIRT1097784	hsa-miR-130b	CLIP-seq
MIRT1097785	hsa-miR-17	CLIP-seq
MIRT1097786	hsa-miR-188-5p	CLIP-seq
MIRT1097787	hsa-miR-18a	CLIP-seq
MIRT1097788	hsa-miR-18b	CLIP-seq
MIRT1097789	hsa-miR-19a	CLIP-seq
MIRT1097790	hsa-miR-19b	CLIP-seq
MIRT1097791	hsa-miR-204	CLIP-seq
MIRT1097792	hsa-miR-20a	CLIP-seq
MIRT1097793	hsa-miR-20b	CLIP-seq
MIRT1097794	hsa-miR-211	CLIP-seq
MIRT1097795	hsa-miR-219-2-3p	CLIP-seq
MIRT1097796	hsa-miR-2355-5p	CLIP-seq
MIRT1097797	hsa-miR-2964a-3p	CLIP-seq
MIRT1097798	hsa-miR-301a	CLIP-seq
MIRT1097799	hsa-miR-301b	CLIP-seq
MIRT1097800	hsa-miR-30a	CLIP-seq
MIRT1097801	hsa-miR-30b	CLIP-seq
MIRT1097802	hsa-miR-30c	CLIP-seq
MIRT1097803	hsa-miR-30d	CLIP-seq
MIRT1097804	hsa-miR-30e	CLIP-seq
MIRT1097805	hsa-miR-3192	CLIP-seq
MIRT1097806	hsa-miR-330-3p	CLIP-seq
MIRT1097807	hsa-miR-3612	CLIP-seq
MIRT1097808	hsa-miR-3617	CLIP-seq
MIRT1097809	hsa-miR-3662	CLIP-seq
MIRT1097810	hsa-miR-3666	CLIP-seq
MIRT1097811	hsa-miR-375	CLIP-seq
MIRT1097812	hsa-miR-3938	CLIP-seq
MIRT1097813	hsa-miR-3974	CLIP-seq
MIRT1097814	hsa-miR-409-3p	CLIP-seq
MIRT1097815	hsa-miR-4273	CLIP-seq
MIRT1097816	hsa-miR-4282	CLIP-seq
MIRT1097817	hsa-miR-4295	CLIP-seq
MIRT1097818	hsa-miR-4307	CLIP-seq
MIRT1097819	hsa-miR-432	CLIP-seq
MIRT1097820	hsa-miR-4420	CLIP-seq
MIRT1097821	hsa-miR-4427	CLIP-seq
MIRT1097822	hsa-miR-4434	CLIP-seq
MIRT1097823	hsa-miR-4443	CLIP-seq
MIRT1097824	hsa-miR-4477a	CLIP-seq
MIRT1097825	hsa-miR-4495	CLIP-seq
MIRT1097826	hsa-miR-4516	CLIP-seq
MIRT1097827	hsa-miR-454	CLIP-seq
MIRT1097828	hsa-miR-4677-5p	CLIP-seq
MIRT1097829	hsa-miR-4680-3p	CLIP-seq
MIRT1097830	hsa-miR-4682	CLIP-seq
MIRT1097831	hsa-miR-4687-3p	CLIP-seq
MIRT1097832	hsa-miR-4713-5p	CLIP-seq
MIRT1097833	hsa-miR-4718	CLIP-seq
MIRT1097834	hsa-miR-4731-5p	CLIP-seq
MIRT1097835	hsa-miR-4735-3p	CLIP-seq
MIRT1097836	hsa-miR-4755-5p	CLIP-seq
MIRT1097837	hsa-miR-4780	CLIP-seq
MIRT1097838	hsa-miR-485-5p	CLIP-seq
MIRT1097839	hsa-miR-502-5p	CLIP-seq
MIRT1097840	hsa-miR-513c	CLIP-seq
MIRT1097841	hsa-miR-514b-5p	CLIP-seq
MIRT1097842	hsa-miR-519a	CLIP-seq
MIRT1097843	hsa-miR-519b-3p	CLIP-seq
MIRT1097844	hsa-miR-519c-3p	CLIP-seq
MIRT1097845	hsa-miR-519d	CLIP-seq
MIRT1097846	hsa-miR-520d-5p	CLIP-seq
MIRT1097847	hsa-miR-524-5p	CLIP-seq
MIRT1097848	hsa-miR-548m	CLIP-seq
MIRT1097849	hsa-miR-576-5p	CLIP-seq
MIRT1097850	hsa-miR-623	CLIP-seq
MIRT1097851	hsa-miR-641	CLIP-seq
MIRT1097852	hsa-miR-650	CLIP-seq
MIRT1097853	hsa-miR-888	CLIP-seq
MIRT1097854	hsa-miR-93	CLIP-seq
MIRT1550597	hsa-miR-3143	CLIP-seq
MIRT1550598	hsa-miR-543	CLIP-seq
MIRT1550599	hsa-miR-802	CLIP-seq
MIRT2026532	hsa-miR-129-5p	CLIP-seq
MIRT2026533	hsa-miR-4476	CLIP-seq
MIRT2026534	hsa-miR-4533	CLIP-seq
MIRT1097779	hsa-miR-106a	CLIP-seq
MIRT1097780	hsa-miR-106b	CLIP-seq
MIRT1097783	hsa-miR-130a	CLIP-seq
MIRT1097784	hsa-miR-130b	CLIP-seq
MIRT1097785	hsa-miR-17	CLIP-seq
MIRT1097792	hsa-miR-20a	CLIP-seq
MIRT1097793	hsa-miR-20b	CLIP-seq
MIRT1097798	hsa-miR-301a	CLIP-seq
MIRT1097799	hsa-miR-301b	CLIP-seq
MIRT1097800	hsa-miR-30a	CLIP-seq
MIRT1097801	hsa-miR-30b	CLIP-seq
MIRT1097802	hsa-miR-30c	CLIP-seq
MIRT1097803	hsa-miR-30d	CLIP-seq
MIRT1097804	hsa-miR-30e	CLIP-seq
MIRT1097810	hsa-miR-3666	CLIP-seq
MIRT2257655	hsa-miR-3673	CLIP-seq
MIRT2257656	hsa-miR-3674	CLIP-seq
MIRT2257657	hsa-miR-4259	CLIP-seq
MIRT1097817	hsa-miR-4295	CLIP-seq
MIRT2257658	hsa-miR-4474-5p	CLIP-seq
MIRT1097825	hsa-miR-4495	CLIP-seq
MIRT1097827	hsa-miR-454	CLIP-seq
MIRT2257659	hsa-miR-4703-3p	CLIP-seq
MIRT2257660	hsa-miR-4715-5p	CLIP-seq
MIRT1097842	hsa-miR-519a	CLIP-seq
MIRT1097843	hsa-miR-519b-3p	CLIP-seq
MIRT1097844	hsa-miR-519c-3p	CLIP-seq
MIRT1097845	hsa-miR-519d	CLIP-seq
MIRT1550599	hsa-miR-802	CLIP-seq
MIRT1097854	hsa-miR-93	CLIP-seq
MIRT1097781	hsa-miR-1237	CLIP-seq
MIRT2558788	hsa-miR-1273f	CLIP-seq
MIRT2558789	hsa-miR-143	CLIP-seq
MIRT1097786	hsa-miR-188-5p	CLIP-seq
MIRT1097795	hsa-miR-219-2-3p	CLIP-seq
MIRT1097797	hsa-miR-2964a-3p	CLIP-seq
MIRT1097809	hsa-miR-3662	CLIP-seq
MIRT2558790	hsa-miR-4423-5p	CLIP-seq
MIRT1097821	hsa-miR-4427	CLIP-seq
MIRT1097829	hsa-miR-4680-3p	CLIP-seq
MIRT2558791	hsa-miR-4708-5p	CLIP-seq
MIRT2558792	hsa-miR-4770	CLIP-seq
MIRT2558793	hsa-miR-578	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	24768539
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	20389280
GO:0005515	Function	Protein binding	IPI	20389280, 21145461, 21840486, 22632832, 23455924, 24768539, 25619834, 30190310, 32814053, 33961781, 34591642
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20389280
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	24768539
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006895	Process	Golgi to endosome transport	IBA
GO:0006895	Process	Golgi to endosome transport	IMP	24768539
GO:0007010	Process	Cytoskeleton organization	TAS
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	TAS
GO:0016567	Process	Protein ubiquitination	IDA	20389280
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016605	Component	PML body	IBA
GO:0016605	Component	PML body	IDA	20389280
GO:0019964	Function	Type II interferon binding	IDA	20389280
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	20389280, 24768539
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0035455	Process	Response to interferon-alpha	TAS	20389280
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	20389280
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	20389280
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:1990390	Process	Protein K33-linked ubiquitination	IDA	24768539
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

MIM	HGNC	e!Ensembl
617679	25056	ENSG00000076321

Q9Y2M5

Protein name

Kelch-like protein 20 (Kelch-like ECT2-interacting protein) (Kelch-like protein X)

Protein function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1

PDB

5YQ4 , 6GY5 , 8CIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	58 → 165	BTB/POZ domain	Domain
PF07707	BACK	170 → 272	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	315 → 352	Kelch motif	Repeat
PF01344	Kelch_1	354 → 394	Kelch motif	Repeat
PF01344	Kelch_1	402 → 447	Kelch motif	Repeat
PF01344	Kelch_1	449 → 494	Kelch motif	Repeat
PF01344	Kelch_1	496 → 541	Kelch motif	Repeat
PF01344	Kelch_1	543 → 588	Kelch motif	Repeat

Sequence

MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINL
LRKHRELCDVVLVVGAKKIYAHRVILSACSPYFRAMFTGELAESRQTEVVIRDIDERAME
LLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEFLKRQLDPSNCLGIRAFADTH
SCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVK
YSIQERRPQLPQVLQHVRLPLLSPKFLVGTVGSDPLIKSDEECRDLVDEAKNYLLLPQER
PLMQGPRTRPRKPIRCGEVLFAVGGWCSGDAISSVERYDPQTNEWRMVASMSKRRCGVGV
SVLDDLLYAVGGHDGSSYLNSVERYDPKTNQWSSDVAPTSTCRTSVGVAVLGGFLYAVGG
QDGVSCLNIVERYDPKENKWTRVASMSTRRLGVAVAVLGGFLYAVGGSDGTSPLNTVERY
NPQENRWHTIAPMGTRRKHLGCAVYQDMIYAVGGRDDTTELSSAERYNPRTNQWSPVVAM
TSRRSGVGLAVVNGQLMAVGGFDGTTYLKTIEVFDPDANTWRLYGGMNYRRLGGGVGVIK
MTHCESHIW

Sequence length

609

Interactions

View interactions

	Reactome
			Neddylation Antigen processing: Ubiquitination & Proteasome degradation

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 Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs1673582111	RCV001078229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KLHL20-related disorder	Likely pathogenic; Pathogenic	rs1673582111	RCV005253717	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1673582111	RCV001375006	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET SEIZURES, FACIAL DYSMORPHISM, AND BEHAVIORAL ABNORMALITIES	Likely pathogenic; Pathogenic	rs1673582111	RCV005913619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1673582111	RCV005624450	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	31279627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36214804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31759986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36214804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36214804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	36214804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36214804	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures Febrile	Seizures	Pubtator	36214804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL20 (kelch like family member 20)