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	56062
Gene name	Kelch like family member 4
Gene symbol	KLHL4
Synonyms (NCBI Gene)	DKELCHLKHL4
Chromosome	X
Chromosome location	Xq21.31
Summary	This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019091	hsa-miR-335-5p	Microarray	18185580
MIRT618919	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT618918	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT645593	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT618917	hsa-miR-668-3p	HITS-CLIP	23824327
MIRT618916	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT618915	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT618914	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT637200	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT637199	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT637198	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT618919	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT618918	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT618917	hsa-miR-668-3p	HITS-CLIP	23824327
MIRT618916	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT618915	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT618914	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT618913	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618919	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT618918	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT645593	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT618917	hsa-miR-668-3p	HITS-CLIP	23824327
MIRT618916	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT618915	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT618914	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT637200	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT637199	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT637198	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT618919	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT618918	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT618917	hsa-miR-668-3p	HITS-CLIP	23824327
MIRT618916	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT618915	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT618914	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT618913	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1098618	hsa-miR-1303	CLIP-seq
MIRT1098619	hsa-miR-1324	CLIP-seq
MIRT1098620	hsa-miR-141	CLIP-seq
MIRT1098621	hsa-miR-200a	CLIP-seq
MIRT1098622	hsa-miR-219-2-3p	CLIP-seq
MIRT1098623	hsa-miR-3123	CLIP-seq
MIRT1098624	hsa-miR-3152-3p	CLIP-seq
MIRT1098625	hsa-miR-3163	CLIP-seq
MIRT1098626	hsa-miR-3925-5p	CLIP-seq
MIRT1098627	hsa-miR-3941	CLIP-seq
MIRT1098628	hsa-miR-4427	CLIP-seq
MIRT1098629	hsa-miR-4476	CLIP-seq
MIRT1098630	hsa-miR-4477b	CLIP-seq
MIRT1098631	hsa-miR-4643	CLIP-seq
MIRT1098632	hsa-miR-466	CLIP-seq
MIRT1098633	hsa-miR-4672	CLIP-seq
MIRT1098634	hsa-miR-4680-3p	CLIP-seq
MIRT1098635	hsa-miR-4694-3p	CLIP-seq
MIRT1098636	hsa-miR-4694-5p	CLIP-seq
MIRT1098637	hsa-miR-4789-3p	CLIP-seq
MIRT1098638	hsa-miR-542-3p	CLIP-seq
MIRT1098639	hsa-miR-548ag	CLIP-seq
MIRT1098640	hsa-miR-548ai	CLIP-seq
MIRT1098641	hsa-miR-548c-3p	CLIP-seq
MIRT1098642	hsa-miR-590-3p	CLIP-seq
MIRT1098643	hsa-miR-7	CLIP-seq
MIRT2026802	hsa-miR-1236	CLIP-seq
MIRT1098618	hsa-miR-1303	CLIP-seq
MIRT1098619	hsa-miR-1324	CLIP-seq
MIRT2026803	hsa-miR-142-5p	CLIP-seq
MIRT2026804	hsa-miR-186	CLIP-seq
MIRT1098623	hsa-miR-3123	CLIP-seq
MIRT2026805	hsa-miR-3133	CLIP-seq
MIRT1098624	hsa-miR-3152-3p	CLIP-seq
MIRT738676	hsa-miR-3179	CLIP-seq
MIRT2026806	hsa-miR-340	CLIP-seq
MIRT2026807	hsa-miR-3692	CLIP-seq
MIRT1098626	hsa-miR-3925-5p	CLIP-seq
MIRT738675	hsa-miR-3936	CLIP-seq
MIRT2026808	hsa-miR-4436b-5p	CLIP-seq
MIRT2026809	hsa-miR-4660	CLIP-seq
MIRT2026810	hsa-miR-490-3p	CLIP-seq
MIRT2026811	hsa-miR-514	CLIP-seq
MIRT2026812	hsa-miR-514b-3p	CLIP-seq
MIRT1098638	hsa-miR-542-3p	CLIP-seq
MIRT2026813	hsa-miR-555	CLIP-seq
MIRT2026814	hsa-miR-563	CLIP-seq
MIRT2026815	hsa-miR-656	CLIP-seq
MIRT1098618	hsa-miR-1303	CLIP-seq
MIRT1098619	hsa-miR-1324	CLIP-seq
MIRT1098623	hsa-miR-3123	CLIP-seq
MIRT1098624	hsa-miR-3152-3p	CLIP-seq
MIRT738676	hsa-miR-3179	CLIP-seq
MIRT1098626	hsa-miR-3925-5p	CLIP-seq
MIRT738675	hsa-miR-3936	CLIP-seq
MIRT738674	hsa-miR-3943	CLIP-seq
MIRT738672	hsa-miR-4261	CLIP-seq
MIRT738673	hsa-miR-4323	CLIP-seq
MIRT738671	hsa-miR-494	CLIP-seq
MIRT1098638	hsa-miR-542-3p	CLIP-seq
MIRT2026803	hsa-miR-142-5p	CLIP-seq
MIRT2026804	hsa-miR-186	CLIP-seq
MIRT2026805	hsa-miR-3133	CLIP-seq
MIRT2026806	hsa-miR-340	CLIP-seq
MIRT2026810	hsa-miR-490-3p	CLIP-seq
MIRT2026813	hsa-miR-555	CLIP-seq
MIRT738676	hsa-miR-3179	CLIP-seq
MIRT738675	hsa-miR-3936	CLIP-seq
MIRT738674	hsa-miR-3943	CLIP-seq
MIRT738672	hsa-miR-4261	CLIP-seq
MIRT738673	hsa-miR-4323	CLIP-seq
MIRT738671	hsa-miR-494	CLIP-seq
MIRT2026803	hsa-miR-142-5p	CLIP-seq
MIRT2026804	hsa-miR-186	CLIP-seq
MIRT2026805	hsa-miR-3133	CLIP-seq
MIRT2026806	hsa-miR-340	CLIP-seq
MIRT2452680	hsa-miR-3653	CLIP-seq
MIRT2026810	hsa-miR-490-3p	CLIP-seq
MIRT2026813	hsa-miR-555	CLIP-seq
MIRT2026803	hsa-miR-142-5p	CLIP-seq
MIRT2026804	hsa-miR-186	CLIP-seq
MIRT2026805	hsa-miR-3133	CLIP-seq
MIRT2026806	hsa-miR-340	CLIP-seq
MIRT2452680	hsa-miR-3653	CLIP-seq
MIRT2026810	hsa-miR-490-3p	CLIP-seq
MIRT2026813	hsa-miR-555	CLIP-seq
MIRT2026803	hsa-miR-142-5p	CLIP-seq
MIRT2026804	hsa-miR-186	CLIP-seq
MIRT2026805	hsa-miR-3133	CLIP-seq
MIRT2026806	hsa-miR-340	CLIP-seq
MIRT2558986	hsa-miR-3667-3p	CLIP-seq
MIRT2558987	hsa-miR-4268	CLIP-seq
MIRT2558988	hsa-miR-4425	CLIP-seq
MIRT2558989	hsa-miR-4448	CLIP-seq
MIRT2558990	hsa-miR-4729	CLIP-seq
MIRT2026810	hsa-miR-490-3p	CLIP-seq
MIRT2026813	hsa-miR-555	CLIP-seq
MIRT2683589	hsa-miR-1284	CLIP-seq
MIRT2026803	hsa-miR-142-5p	CLIP-seq
MIRT2683590	hsa-miR-181a	CLIP-seq
MIRT2683591	hsa-miR-181b	CLIP-seq
MIRT2683592	hsa-miR-181c	CLIP-seq
MIRT2683593	hsa-miR-181d	CLIP-seq
MIRT2026804	hsa-miR-186	CLIP-seq
MIRT2683594	hsa-miR-300	CLIP-seq
MIRT2026805	hsa-miR-3133	CLIP-seq
MIRT2683595	hsa-miR-323-3p	CLIP-seq
MIRT2026806	hsa-miR-340	CLIP-seq
MIRT2558986	hsa-miR-3667-3p	CLIP-seq
MIRT2683596	hsa-miR-381	CLIP-seq
MIRT2683597	hsa-miR-4262	CLIP-seq
MIRT2558987	hsa-miR-4268	CLIP-seq
MIRT2558988	hsa-miR-4425	CLIP-seq
MIRT2558989	hsa-miR-4448	CLIP-seq
MIRT2683598	hsa-miR-4666-3p	CLIP-seq
MIRT2558990	hsa-miR-4729	CLIP-seq
MIRT2026810	hsa-miR-490-3p	CLIP-seq
MIRT2026813	hsa-miR-555	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence
GO:0003779	Function	Actin binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0034451	Component	Centriolar satellite	IDA
GO:0036064	Component	Ciliary basal body	IDA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

MIM	HGNC	e!Ensembl
300348	6355	ENSG00000102271

Q9C0H6

Protein name

Kelch-like protein 4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	172 → 279	BTB/POZ domain	Domain
PF07707	BACK	284 → 385	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	429 → 463	Kelch motif	Repeat
PF01344	Kelch_1	465 → 510	Kelch motif	Repeat
PF01344	Kelch_1	512 → 557	Kelch motif	Repeat
PF01344	Kelch_1	559 → 604	Kelch motif	Repeat
PF01344	Kelch_1	606 → 657	Kelch motif	Repeat
PF01344	Kelch_1	659 → 703	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult fibroblasts and in a range of fetal tissues including tongue, palate, and mandible.

Sequence

MSVSGKKEFDVKQILRLRWRWFSHPFQGSTNTGSCLQQEGYEHRGTPVQGRLKSHSRDRN
GLKKSNSPVHHNILAPVPGPAPAHQRAVQNLQQHNLIVHFQANEDTPKSVPEKNLFKEAC
EKRAQDLEMMADDNIEDSTARLDTQHSEDMNATRSEEQFHVINHAEQTLRKMENYLKEKQ
LCDVLLIAGHLRIPAHRLVLSAVSDYFAAMFTNDVLEAKQEEVRMEGVDPNALNSLVQYA
YTGVLQLKEDTIESLLAAACLLQLTQVIDVCSNFLIKQLHPSNCLGIRSFGDAQGCTELL
NVAHKYTMEHFIEVIKNQEFLLLPANEISKLLCSDDINVPDEETIFHALMQWVGHDVQNR
QGELGMLLSYIRLPLLPPQLLADLETSSMFTGDLECQKLLMEAMKYHLLPERRSMMQSPR
TKPRKSTVGALYAVGGMDAMKGTTTIEKYDLRTNSWLHIGTMNGRRLQFGVAVIDNKLYV
VGGRDGLKTLNTVECFNPVGKIWTVMPPMSTHRHGLGVATLEGPMYAVGGHDGWSYLNTV
ERWDPEGRQWNYVASMSTPRSTVGVVALNNKLYAIGGRDGSSCLKSMEYFDPHTNKWSLC
APMSKRRGGVGVATYNGFLYVVGGHDAPASNHCSRLSDCVERYDPKGDSWSTVAPLSVPR
DAVAVCPLGDKLYVVGGYDGHTYLNTVESYDAQRNEWKEEVPVNIGRAGACVVVVKLP

Sequence length

718

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 (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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cleft Lip	Cleft lip	Pubtator	28877219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked cleft palate and ankyloglossia	Cleft Palate And Ankyloglossia, X-Linked	BEFREE	11401425		★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL4 (kelch like family member 4)