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	11275
Gene name	Kelch like family member 2
Gene symbol	KLHL2
Synonyms (NCBI Gene)	ABP-KELCHMAVMAYVEN
Chromosome	4
Chromosome location	4q32.3

133

Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046342	hsa-miR-23b-3p	CLASH	23622248
MIRT440354	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT440354	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT1097949	hsa-miR-106a	CLIP-seq
MIRT1097950	hsa-miR-106b	CLIP-seq
MIRT1097951	hsa-miR-1256	CLIP-seq
MIRT1097952	hsa-miR-1278	CLIP-seq
MIRT1097953	hsa-miR-17	CLIP-seq
MIRT1097954	hsa-miR-181a	CLIP-seq
MIRT1097955	hsa-miR-181b	CLIP-seq
MIRT1097956	hsa-miR-181c	CLIP-seq
MIRT1097957	hsa-miR-181d	CLIP-seq
MIRT1097958	hsa-miR-193a-3p	CLIP-seq
MIRT1097959	hsa-miR-193b	CLIP-seq
MIRT1097960	hsa-miR-2053	CLIP-seq
MIRT1097961	hsa-miR-20a	CLIP-seq
MIRT1097962	hsa-miR-20b	CLIP-seq
MIRT1097963	hsa-miR-3609	CLIP-seq
MIRT1097964	hsa-miR-3613-3p	CLIP-seq
MIRT1097965	hsa-miR-3973	CLIP-seq
MIRT1097966	hsa-miR-4262	CLIP-seq
MIRT1097967	hsa-miR-4318	CLIP-seq
MIRT1097968	hsa-miR-4452	CLIP-seq
MIRT1097969	hsa-miR-4503	CLIP-seq
MIRT1097970	hsa-miR-4528	CLIP-seq
MIRT1097971	hsa-miR-4693-5p	CLIP-seq
MIRT1097972	hsa-miR-4720-5p	CLIP-seq
MIRT1097973	hsa-miR-4733-3p	CLIP-seq
MIRT1097974	hsa-miR-4760-3p	CLIP-seq
MIRT1097975	hsa-miR-4795-5p	CLIP-seq
MIRT1097976	hsa-miR-4796-3p	CLIP-seq
MIRT1097977	hsa-miR-4799-3p	CLIP-seq
MIRT1097978	hsa-miR-519d	CLIP-seq
MIRT1097979	hsa-miR-520g	CLIP-seq
MIRT1097980	hsa-miR-520h	CLIP-seq
MIRT1097981	hsa-miR-548ac	CLIP-seq
MIRT1097982	hsa-miR-548ah	CLIP-seq
MIRT1097983	hsa-miR-548d-3p	CLIP-seq
MIRT1097984	hsa-miR-548k	CLIP-seq
MIRT1097985	hsa-miR-548z	CLIP-seq
MIRT1097986	hsa-miR-587	CLIP-seq
MIRT1097987	hsa-miR-664	CLIP-seq
MIRT1097988	hsa-miR-892a	CLIP-seq
MIRT1097989	hsa-miR-892b	CLIP-seq
MIRT1097990	hsa-miR-93	CLIP-seq
MIRT1097991	hsa-miR-1206	CLIP-seq
MIRT1097992	hsa-miR-298	CLIP-seq
MIRT1097964	hsa-miR-3613-3p	CLIP-seq
MIRT1097993	hsa-miR-3678-3p	CLIP-seq
MIRT1097994	hsa-miR-409-3p	CLIP-seq
MIRT1097995	hsa-miR-4317	CLIP-seq
MIRT1097981	hsa-miR-548ac	CLIP-seq
MIRT1097983	hsa-miR-548d-3p	CLIP-seq
MIRT1097985	hsa-miR-548z	CLIP-seq
MIRT1097996	hsa-miR-767-3p	CLIP-seq
MIRT1097949	hsa-miR-106a	CLIP-seq
MIRT1097950	hsa-miR-106b	CLIP-seq
MIRT1097953	hsa-miR-17	CLIP-seq
MIRT1097954	hsa-miR-181a	CLIP-seq
MIRT1097955	hsa-miR-181b	CLIP-seq
MIRT1097956	hsa-miR-181c	CLIP-seq
MIRT1097957	hsa-miR-181d	CLIP-seq
MIRT1097961	hsa-miR-20a	CLIP-seq
MIRT1097962	hsa-miR-20b	CLIP-seq
MIRT1097963	hsa-miR-3609	CLIP-seq
MIRT1097966	hsa-miR-4262	CLIP-seq
MIRT1097976	hsa-miR-4796-3p	CLIP-seq
MIRT2026612	hsa-miR-519a	CLIP-seq
MIRT2026613	hsa-miR-519b-3p	CLIP-seq
MIRT2026614	hsa-miR-519c-3p	CLIP-seq
MIRT1097978	hsa-miR-519d	CLIP-seq
MIRT1097982	hsa-miR-548ah	CLIP-seq
MIRT1097987	hsa-miR-664	CLIP-seq
MIRT1097990	hsa-miR-93	CLIP-seq
MIRT1097949	hsa-miR-106a	CLIP-seq
MIRT1097950	hsa-miR-106b	CLIP-seq
MIRT2257719	hsa-miR-1301	CLIP-seq
MIRT2257720	hsa-miR-1343	CLIP-seq
MIRT1097953	hsa-miR-17	CLIP-seq
MIRT1097954	hsa-miR-181a	CLIP-seq
MIRT1097955	hsa-miR-181b	CLIP-seq
MIRT1097956	hsa-miR-181c	CLIP-seq
MIRT1097957	hsa-miR-181d	CLIP-seq
MIRT1097961	hsa-miR-20a	CLIP-seq
MIRT1097962	hsa-miR-20b	CLIP-seq
MIRT1097963	hsa-miR-3609	CLIP-seq
MIRT2257721	hsa-miR-3672	CLIP-seq
MIRT2257722	hsa-miR-3944-5p	CLIP-seq
MIRT1097966	hsa-miR-4262	CLIP-seq
MIRT2257723	hsa-miR-4277	CLIP-seq
MIRT2257724	hsa-miR-4329	CLIP-seq
MIRT2257725	hsa-miR-455-3p	CLIP-seq
MIRT2257726	hsa-miR-4660	CLIP-seq
MIRT2257727	hsa-miR-4663	CLIP-seq
MIRT2257728	hsa-miR-4774-5p	CLIP-seq
MIRT1097976	hsa-miR-4796-3p	CLIP-seq
MIRT2257729	hsa-miR-5047	CLIP-seq
MIRT2026612	hsa-miR-519a	CLIP-seq
MIRT2026613	hsa-miR-519b-3p	CLIP-seq
MIRT2026614	hsa-miR-519c-3p	CLIP-seq
MIRT1097978	hsa-miR-519d	CLIP-seq
MIRT1097982	hsa-miR-548ah	CLIP-seq
MIRT1097987	hsa-miR-664	CLIP-seq
MIRT1097990	hsa-miR-93	CLIP-seq
MIRT1097991	hsa-miR-1206	CLIP-seq
MIRT1097994	hsa-miR-409-3p	CLIP-seq
MIRT1097981	hsa-miR-548ac	CLIP-seq
MIRT1097983	hsa-miR-548d-3p	CLIP-seq
MIRT1097985	hsa-miR-548z	CLIP-seq
MIRT1097987	hsa-miR-664	CLIP-seq
MIRT2452651	hsa-miR-1277	CLIP-seq
MIRT2452652	hsa-miR-889	CLIP-seq
MIRT2452651	hsa-miR-1277	CLIP-seq
MIRT2452652	hsa-miR-889	CLIP-seq
MIRT1097960	hsa-miR-2053	CLIP-seq
MIRT1097964	hsa-miR-3613-3p	CLIP-seq
MIRT1097969	hsa-miR-4503	CLIP-seq
MIRT1097949	hsa-miR-106a	CLIP-seq
MIRT1097950	hsa-miR-106b	CLIP-seq
MIRT1097951	hsa-miR-1256	CLIP-seq
MIRT1097953	hsa-miR-17	CLIP-seq
MIRT1097960	hsa-miR-2053	CLIP-seq
MIRT1097961	hsa-miR-20a	CLIP-seq
MIRT1097962	hsa-miR-20b	CLIP-seq
MIRT1097963	hsa-miR-3609	CLIP-seq
MIRT1097964	hsa-miR-3613-3p	CLIP-seq
MIRT1097969	hsa-miR-4503	CLIP-seq
MIRT1097973	hsa-miR-4733-3p	CLIP-seq
MIRT1097975	hsa-miR-4795-5p	CLIP-seq
MIRT1097976	hsa-miR-4796-3p	CLIP-seq
MIRT1097978	hsa-miR-519d	CLIP-seq
MIRT1097982	hsa-miR-548ah	CLIP-seq
MIRT1097990	hsa-miR-93	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0003779	Function	Actin binding	IDA	10397770
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 21145461, 21516116, 21784977, 25416956, 25910212, 30190310, 31515488, 32296183, 33961781, 34591642
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	IDA	10397770
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0030027	Component	Lamellipodium	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	ISS
GO:0042802	Function	Identical protein binding	IPI	25416956, 31515488, 32296183
GO:0042995	Component	Cell projection	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	23838290
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA

MIM	HGNC	e!Ensembl
605774	6353	ENSG00000109466

O95198

Protein name

Kelch-like protein 2 (Actin-binding protein Mayven)

Protein function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, WNK1, WNK3 and WNK4, leading most often to their proteasomal degradation (PubMed:23838290). The B

PDB

2XN4 , 4CHB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	46 → 153	BTB/POZ domain	Domain
PF07707	BACK	158 → 260	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	305 → 340	Kelch motif	Repeat
PF01344	Kelch_1	342 → 387	Kelch motif	Repeat
PF01344	Kelch_1	389 → 434	Kelch motif	Repeat
PF01344	Kelch_1	436 → 483	Kelch motif	Repeat
PF01344	Kelch_1	485 → 530	Kelch motif	Repeat
PF01344	Kelch_1	532 → 577	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Detected throughout the brain. {ECO:0000269|PubMed:10397770}.

Sequence

METPPLPPACTKQGHQKPLDSKDDNTEKHCPVTVNPWHMKKAFKVMNELRSQNLLCDVTI
VAEDMEISAHRVVLAACSPYFHAMFTGEMSESRAKRVRIKEVDGWTLRMLIDYVYTAEIQ
VTEENVQVLLPAAGLLQLQDVKKTCCEFLESQLHPVNCLGIRAFADMHACTDLLNKANTY
AEQHFADVVLSEEFLNLGIEQVCSLISSDKLTISSEEKVFEAVIAWVNHDKDVRQEFMAR
LMEHVRLPLLPREYLVQRVEEEALVKNSSACKDYLIEAMKYHLLPTEQRILMKSVRTRLR
TPMNLPKLMVVVGGQAPKAIRSVECYDFKEERWHQVAELPSRRCRAGMVYMAGLVFAVGG
FNGSLRVRTVDSYDPVKDQWTSVANMRDRRSTLGAAVLNGLLYAVGGFDGSTGLSSVEAY
NIKSNEWFHVAPMNTRRSSVGVGVVGGLLYAVGGYDGASRQCLSTVECYNATTNEWTYIA
EMSTRRSGAGVGVLNNLLYAVGGHDGPLVRKSVEVYDPTTNAWRQVADMNMCRRNAGVCA
VNGLLYVVGGDDGSCNLASVEYYNPTTDKWTVVSSCMSTGRSYAGVTVIDKPL

Sequence length

593

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 Unknown Diseases (2)

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.
LARYNGEAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

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	24450635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	16356934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	20554658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	27903802, 28053109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	19520207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	22988245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28768863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28768863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28768863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31948430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28768863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	14599793		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	28433457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29141203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32192517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24450635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	30931564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	28414128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19520207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	10891502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL2 (kelch like family member 2)