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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79734
Gene name	Potassium channel tetramerization domain containing 17
Gene symbol	KCTD17
Synonyms (NCBI Gene)	-
Chromosome	22
Chromosome location	22q12.3
Summary	This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugati

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205860	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017633	hsa-miR-335-5p	Microarray	18185580
MIRT1083008	hsa-miR-1237	CLIP-seq
MIRT1083009	hsa-miR-185	CLIP-seq
MIRT1083010	hsa-miR-3127-3p	CLIP-seq
MIRT1083011	hsa-miR-4306	CLIP-seq
MIRT1083012	hsa-miR-4317	CLIP-seq
MIRT1083013	hsa-miR-4476	CLIP-seq
MIRT1083014	hsa-miR-4501	CLIP-seq
MIRT1083015	hsa-miR-4533	CLIP-seq
MIRT1083016	hsa-miR-4640-5p	CLIP-seq
MIRT1083017	hsa-miR-4644	CLIP-seq
MIRT1083018	hsa-miR-4726-5p	CLIP-seq
MIRT2020737	hsa-let-7a	CLIP-seq
MIRT2020738	hsa-let-7b	CLIP-seq
MIRT2020739	hsa-let-7c	CLIP-seq
MIRT2020740	hsa-let-7d	CLIP-seq
MIRT2020741	hsa-let-7e	CLIP-seq
MIRT2020742	hsa-let-7f	CLIP-seq
MIRT2020743	hsa-let-7g	CLIP-seq
MIRT2020744	hsa-let-7i	CLIP-seq
MIRT2020745	hsa-miR-202	CLIP-seq
MIRT2020746	hsa-miR-224	CLIP-seq
MIRT2020747	hsa-miR-4323	CLIP-seq
MIRT2020748	hsa-miR-4458	CLIP-seq
MIRT2020749	hsa-miR-4500	CLIP-seq
MIRT2020750	hsa-miR-4651	CLIP-seq
MIRT2020751	hsa-miR-4758-3p	CLIP-seq
MIRT2020752	hsa-miR-608	CLIP-seq
MIRT2020753	hsa-miR-98	CLIP-seq
MIRT2252437	hsa-miR-136	CLIP-seq
MIRT1083009	hsa-miR-185	CLIP-seq
MIRT2252438	hsa-miR-1915	CLIP-seq
MIRT2252439	hsa-miR-1972	CLIP-seq
MIRT2252440	hsa-miR-296-5p	CLIP-seq
MIRT2252441	hsa-miR-3140-5p	CLIP-seq
MIRT2252442	hsa-miR-331-3p	CLIP-seq
MIRT2252443	hsa-miR-3664-5p	CLIP-seq
MIRT2252444	hsa-miR-4254	CLIP-seq
MIRT1083011	hsa-miR-4306	CLIP-seq
MIRT2252445	hsa-miR-4308	CLIP-seq
MIRT2252446	hsa-miR-450b-5p	CLIP-seq
MIRT1083017	hsa-miR-4644	CLIP-seq
MIRT2252447	hsa-miR-4714-5p	CLIP-seq
MIRT2252448	hsa-miR-4727-5p	CLIP-seq
MIRT2252449	hsa-miR-4755-3p	CLIP-seq
MIRT2252450	hsa-miR-4769-3p	CLIP-seq
MIRT2252451	hsa-miR-518a-5p	CLIP-seq
MIRT2252452	hsa-miR-527	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21044950, 23455924, 25270598, 25416956, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	25983243
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	25270598
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IMP	25983243
GO:0042802	Function	Identical protein binding	IPI	16189514
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	25270598
GO:0045724	Process	Positive regulation of cilium assembly	IBA
GO:0045724	Process	Positive regulation of cilium assembly	IMP	25270598
GO:0051260	Process	Protein homooligomerization	IEA
GO:0097602	Function	Cullin family protein binding	IBA
GO:0097602	Function	Cullin family protein binding	IPI	25270598
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	25270598

MIM	HGNC	e!Ensembl
616386	25705	ENSG00000100379

Q8N5Z5

Protein name

BTB/POZ domain-containing protein KCTD17

Protein function

Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. Thereby, positively regulates ciliogenesis, playing

PDB

5A6R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	33 → 124	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain. Highest expression is observed in the putamen and the thalamus. {ECO:0000269|PubMed:25983243}.

Sequence

MQTPRPAMRMEAGEAAPPAGAGGRAAGGWGKWVRLNVGGTVFLTTRQTLCREQKSFLSRL
CQGEELQSDRDETGAYLIDRDPTYFGPILNFLRHGKLVLDKDMAEEGVLEEAEFYNIGPL
IRIIKDRMEEKDYTVTQVPPKHVYRVLQCQEEELTQMVSTMSDGWRFEQLVNIGSSYNYG
SEDQAEFLCVVSKELHSTPNGLSSESSRKTKSTEEQLEEQQQQEEEVEEVEVEQVQVEAD
AQEKAQSSQDPANLFSLPPLPPPPLPAGGSRPHPLRPEAELAVRASPRPLARPQSCHPCC
YKPEAPGCEAPDHLQGLGVPI

Sequence length

321

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Myoclonic dystonia 26	Pathogenic	rs786205860, rs2517693712, rs2517693412	RCV000171554 RCV003590400 RCV004560464	★★★★★ ★★★★☆ 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.
DYSTONIA 26, MYOCLONIC	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCTD17-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCLONIC DYSTONIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	25983243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSTONIA 26, MYOCLONIC	Myoclonic Dystonia	UNIPROT_DG	25983243		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 26, MYOCLONIC	Myoclonic Dystonia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 26, MYOCLONIC	Myoclonic Dystonia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Disorders	Dystonia	BEFREE	26991507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	25983243		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	ORPHANET_DG	25983243		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic dystonia	Pubtator	25983243	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus-dystonia syndrome	Myoclonus-Dystonia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28859855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal cord myoclonus	Spinal Cord Myoclonus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28859855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

KCTD17 (potassium channel tetramerization domain containing 17)