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	57565
Gene name	Kelch like family member 14
Gene symbol	KLHL14
Synonyms (NCBI Gene)	-
Chromosome	18
Chromosome location	18q12.1
Summary	The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023024	hsa-miR-124-3p	Microarray	18668037
MIRT198697	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT656826	hsa-miR-335-5p	HITS-CLIP	23824327
MIRT656825	hsa-miR-3151-3p	HITS-CLIP	23824327
MIRT656824	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT656823	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT656822	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT656821	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT656820	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT656819	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT656818	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT656817	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT727341	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT727339	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT727340	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT198697	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT656826	hsa-miR-335-5p	HITS-CLIP	23824327
MIRT656825	hsa-miR-3151-3p	HITS-CLIP	23824327
MIRT656824	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT656823	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT656822	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT656821	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT656820	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT656819	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT656818	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT656817	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT1097518	hsa-miR-124	CLIP-seq
MIRT1097519	hsa-miR-21	CLIP-seq
MIRT1097520	hsa-miR-3136-5p	CLIP-seq
MIRT1097521	hsa-miR-320a	CLIP-seq
MIRT1097522	hsa-miR-320b	CLIP-seq
MIRT1097523	hsa-miR-320c	CLIP-seq
MIRT1097524	hsa-miR-320d	CLIP-seq
MIRT1097525	hsa-miR-320e	CLIP-seq
MIRT1097526	hsa-miR-34c-3p	CLIP-seq
MIRT1097527	hsa-miR-3616-5p	CLIP-seq
MIRT1097528	hsa-miR-3647-5p	CLIP-seq
MIRT1097529	hsa-miR-3714	CLIP-seq
MIRT1097530	hsa-miR-3910	CLIP-seq
MIRT1097531	hsa-miR-4421	CLIP-seq
MIRT1097532	hsa-miR-4429	CLIP-seq
MIRT1097533	hsa-miR-4439	CLIP-seq
MIRT1097534	hsa-miR-4513	CLIP-seq
MIRT1097535	hsa-miR-4659a-5p	CLIP-seq
MIRT1097536	hsa-miR-4659b-5p	CLIP-seq
MIRT1097537	hsa-miR-4680-3p	CLIP-seq
MIRT1097538	hsa-miR-4709-3p	CLIP-seq
MIRT1097539	hsa-miR-4727-5p	CLIP-seq
MIRT1097540	hsa-miR-4769-3p	CLIP-seq
MIRT1097541	hsa-miR-506	CLIP-seq
MIRT1097542	hsa-miR-511	CLIP-seq
MIRT1097543	hsa-miR-573	CLIP-seq
MIRT1097544	hsa-miR-590-5p	CLIP-seq
MIRT1097531	hsa-miR-4421	CLIP-seq
MIRT1097537	hsa-miR-4680-3p	CLIP-seq
MIRT1097542	hsa-miR-511	CLIP-seq
MIRT1097531	hsa-miR-4421	CLIP-seq
MIRT1097537	hsa-miR-4680-3p	CLIP-seq
MIRT1097542	hsa-miR-511	CLIP-seq
MIRT2026483	hsa-miR-2964a-5p	CLIP-seq
MIRT1097520	hsa-miR-3136-5p	CLIP-seq
MIRT2026484	hsa-miR-326	CLIP-seq
MIRT2026485	hsa-miR-330-5p	CLIP-seq
MIRT1097531	hsa-miR-4421	CLIP-seq
MIRT1097533	hsa-miR-4439	CLIP-seq
MIRT1097534	hsa-miR-4513	CLIP-seq
MIRT2026486	hsa-miR-4640-5p	CLIP-seq
MIRT2026487	hsa-miR-4667-5p	CLIP-seq
MIRT1097537	hsa-miR-4680-3p	CLIP-seq
MIRT2026488	hsa-miR-4700-5p	CLIP-seq
MIRT2026489	hsa-miR-4726-5p	CLIP-seq
MIRT1097540	hsa-miR-4769-3p	CLIP-seq
MIRT1097542	hsa-miR-511	CLIP-seq
MIRT2026490	hsa-miR-561	CLIP-seq
MIRT2026491	hsa-miR-637	CLIP-seq
MIRT2257575	hsa-miR-140-3p	CLIP-seq
MIRT2257576	hsa-miR-197	CLIP-seq
MIRT2257577	hsa-miR-2355-3p	CLIP-seq
MIRT2257578	hsa-miR-298	CLIP-seq
MIRT2257579	hsa-miR-3163	CLIP-seq
MIRT2257580	hsa-miR-3662	CLIP-seq
MIRT2257581	hsa-miR-549	CLIP-seq
MIRT2257582	hsa-miR-676	CLIP-seq
MIRT2257583	hsa-miR-7	CLIP-seq
MIRT1097520	hsa-miR-3136-5p	CLIP-seq
MIRT1097531	hsa-miR-4421	CLIP-seq
MIRT1097533	hsa-miR-4439	CLIP-seq
MIRT1097534	hsa-miR-4513	CLIP-seq
MIRT1097537	hsa-miR-4680-3p	CLIP-seq
MIRT1097542	hsa-miR-511	CLIP-seq
MIRT2389932	hsa-miR-943	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	19535332
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016235	Component	Aggresome	IDA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA

MIM	HGNC	e!Ensembl
613772	29266	ENSG00000197705

Q9P2G3

Protein name

Kelch-like protein 14 (Protein interactor of Torsin-1A) (Printor) (Protein interactor of torsinA)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	23 → 91	BTB/POZ domain	Domain
PF00651	BTB	110 → 181	BTB/POZ domain	Domain
PF07707	BACK	186 → 279	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	362 → 411	Kelch motif	Repeat
PF01344	Kelch_1	413 → 458	Kelch motif	Repeat
PF01344	Kelch_1	460 → 505	Kelch motif	Repeat
PF01344	Kelch_1	559 → 603	Kelch motif	Repeat

Sequence

MSRSGDRTSTFDPSHSDNLLHGLNLLWRKQLFCDVTLTAQGQQFHCHKAVLASCSQYFRS
LFSSHPPLGGGVGGQDGLGAPKDQQQPPQQQPSQQQQPPPQEEPGTPSSSPDDKLLTSPR
AINNLVLQGCSSIGLRLVLEYLYTANVTLSLDTVEEVLSVSKILHIPQVTKLCVQFLNDQ
ISVQNYKQVCKIAALHGLEETKKLANKYLVEDVLLLNFEEMRALLDSLPPPVESELALFQ
MSVLWLEHDRETRMQYAPDLMKRLRFALIPAPELVERVQSVDFMRTDPVCQKLLLDAMNY
HLMPFRQHCRQSLASRIRSNKKMLLLVGGLPPGPDRLPSNLVQYYDDEKKTWKILTIMPY
NSAHHCVVEVENFLFVLGGEDQWNPNGKHSTNFVSRYDPRFNSWIQLPPMQERRASFYAC
RLDKHLYVIGGRNETGYLSSVECYNLETNEWRYVSSLPQPLAAHAGAVHNGKIYISGGVH
NGEYVPWLYCYDPVMDVWARKQDMNTKRAIHTLAVMNDRLYAIGGNHLKGFSHLDVMLVE
CYDPKGDQWNILQTPILEGRSGPGCAVLDDSIYLVGGYSWSMGAYKSSTICYCPEKGTWT
ELEGDVAEPLAGPACVTVILPSCVPYNK

Sequence length

628

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 (4)

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.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	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
Dystonia	Dystonia	Pubtator	19535332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	29045835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	32233603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32233603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31558562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32233603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31558562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31558562		★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL14 (kelch like family member 14)