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	84861
Gene name	Kelch like family member 22
Gene symbol	KLHL22
Synonyms (NCBI Gene)	KELCHL
Chromosome	22
Chromosome location	22q11.21

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041412	hsa-miR-193b-3p	CLASH	23622248
MIRT039836	hsa-miR-615-3p	CLASH	23622248
MIRT1097936	hsa-miR-1184	CLIP-seq
MIRT1097937	hsa-miR-146b-3p	CLIP-seq
MIRT1097938	hsa-miR-3173-5p	CLIP-seq
MIRT1097939	hsa-miR-4269	CLIP-seq
MIRT1097940	hsa-miR-4270	CLIP-seq
MIRT1097941	hsa-miR-4323	CLIP-seq
MIRT1097942	hsa-miR-4420	CLIP-seq
MIRT1097943	hsa-miR-4441	CLIP-seq
MIRT1097944	hsa-miR-4502	CLIP-seq
MIRT1097945	hsa-miR-4645-5p	CLIP-seq
MIRT1097946	hsa-miR-4673	CLIP-seq
MIRT1097947	hsa-miR-4755-3p	CLIP-seq
MIRT1097948	hsa-miR-874	CLIP-seq
MIRT2026607	hsa-miR-1913	CLIP-seq
MIRT2026608	hsa-miR-324-3p	CLIP-seq
MIRT2026609	hsa-miR-4268	CLIP-seq
MIRT2026610	hsa-miR-4448	CLIP-seq
MIRT2026611	hsa-miR-767-3p	CLIP-seq
MIRT2257697	hsa-miR-1207-5p	CLIP-seq
MIRT2257698	hsa-miR-138	CLIP-seq
MIRT2257699	hsa-miR-3185	CLIP-seq
MIRT2257700	hsa-miR-320e	CLIP-seq
MIRT2257701	hsa-miR-3611	CLIP-seq
MIRT2257702	hsa-miR-3616-3p	CLIP-seq
MIRT2257703	hsa-miR-3650	CLIP-seq
MIRT2257704	hsa-miR-3918	CLIP-seq
MIRT2257705	hsa-miR-3926	CLIP-seq
MIRT2257706	hsa-miR-4436b-3p	CLIP-seq
MIRT2257707	hsa-miR-4492	CLIP-seq
MIRT2257708	hsa-miR-4498	CLIP-seq
MIRT2257709	hsa-miR-450b-3p	CLIP-seq
MIRT2257710	hsa-miR-4713-3p	CLIP-seq
MIRT2257711	hsa-miR-4763-3p	CLIP-seq
MIRT2257712	hsa-miR-548s	CLIP-seq
MIRT2257713	hsa-miR-583	CLIP-seq
MIRT2257714	hsa-miR-638	CLIP-seq
MIRT2257715	hsa-miR-661	CLIP-seq
MIRT2257716	hsa-miR-663b	CLIP-seq
MIRT2257717	hsa-miR-762	CLIP-seq
MIRT2257718	hsa-miR-769-3p	CLIP-seq
MIRT2026607	hsa-miR-1913	CLIP-seq
MIRT2389944	hsa-miR-22	CLIP-seq
MIRT2026608	hsa-miR-324-3p	CLIP-seq
MIRT2389945	hsa-miR-4313	CLIP-seq
MIRT2389946	hsa-miR-4691-5p	CLIP-seq
MIRT2389947	hsa-miR-4793-5p	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IMP	23455478
GO:0002841	Process	Negative regulation of T cell mediated immune response to tumor cell	IDA	38377992
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	33109719
GO:0005515	Function	Protein binding	IPI	17543862, 21145461, 22939624, 23455478, 25036637, 28514442, 30190310, 32814053, 33961781, 34591642, 37788672
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	29769719
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IC	36394357
GO:0005737	Component	Cytoplasm	IDA	23455478
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	29769719
GO:0005764	Component	Lysosome	IEA
GO:0005813	Component	Centrosome	IDA	23455478
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005827	Component	Polar microtubule	IBA
GO:0005827	Component	Polar microtubule	IDA	23455478
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	29769719
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	17636018
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	36394357
GO:0006513	Process	Protein monoubiquitination	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	23455478
GO:0006513	Process	Protein monoubiquitination	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	23455478
GO:0010507	Process	Negative regulation of autophagy	IMP	29769719
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	29769719
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	19995937, 23455478
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	31601708
GO:0032480	Process	Negative regulation of type I interferon production	IDA	36394357
GO:0032480	Process	Negative regulation of type I interferon production	IDA	36394357
GO:0032481	Process	Positive regulation of type I interferon production	IDA	17404045
GO:0034198	Process	Cellular response to amino acid starvation	IDA	35338845
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	29769719
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	29769719, 33109719
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	29769719
GO:0045171	Component	Intercellular bridge	IDA
GO:0050868	Process	Negative regulation of T cell activation	IDA	38377992
GO:0050870	Process	Positive regulation of T cell activation	IDA	33109719
GO:0051301	Process	Cell division	IEA
GO:0051301	Process	Cell division	IMP	19995937
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	29769719
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	29769719
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071233	Process	Cellular response to L-leucine	IMP	29769719
GO:0071889	Function	14-3-3 protein binding	IPI	29769719
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA	23455478
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	35338845
GO:1904263	Process	Positive regulation of TORC1 signaling	IBA
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29769719, 31601708
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29769719
GO:1904263	Process	Positive regulation of TORC1 signaling	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	29769719
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	29769719, 33109719, 36394357

MIM	HGNC	e!Ensembl
618020	25888	ENSG00000099910

Q53GT1

Protein name

Kelch-like protein 22

Protein function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to

PDB

8K8T , 8K9I , 8KHP , 8W4J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	40 → 146	BTB/POZ domain	Domain
PF07707	BACK	152 → 258	BTB And C-terminal Kelch	Domain
PF13964	Kelch_6	337 → 391		Repeat
PF01344	Kelch_1	389 → 433	Kelch motif	Repeat
PF13415	Kelch_3	445 → 491		Domain
PF01344	Kelch_1	535 → 579	Kelch motif	Repeat

Sequence

MAEEQEFTQLCKLPAQPSHPHCVNNTYRSAQHSQALLRGLLALRDSGILFDVVLVVEGRH
IEAHRILLAASCDYFRGMFAGGLKEMEQEEVLIHGVSYNAMCQILHFIYTSELELSLSNV
QETLVAACQLQIPEIIHFCCDFLMSWVDEENILDVYRLAELFDLSRLTEQLDTYILKNFV
AFSRTDKYRQLPLEKVYSLLSSNRLEVSCETEVYEGALLYHYSLEQVQADQISLHEPPKL
LETVRFPLMEAEVLQRLHDKLDPSPLRDTVASALMYHRNESLQPSLQSPQTELRSDFQCV
VGFGGIHSTPSTVLSDQAKYLNPLLGEWKHFTASLAPRMSNQGIAVLNNFVYLIGGDNNV
QGFRAESRCWRYDPRHNRWFQIQSLQQEHADLSVCVVGRYIYAVAGRDYHNDLNAVERYD
PATNSWAYVAPLKREVYAHAGATLEGKMYITCGRRGEDYLKETHCYDPGSNTWHTLADGP
VRRAWHGMATLLNKLYVIGGSNNDAGYRRDVHQVACYSCTSGQWSSVCPLPAGHGEPGIA
VLDNRIYVLGGRSHNRGSRTGYVHIYDVEKDCWEEGPQLDNSISGLAACVLTLPRSLLLE
PPRGTPDRSQADPDFASEVMSVSDWEEFDNSSED

Sequence length

634

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.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	29769719		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29925309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29769719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29769719		★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL22 (kelch like family member 22)