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	200845
Gene name	Potassium channel tetramerization domain containing 6
Gene symbol	KCTD6
Synonyms (NCBI Gene)	KCASH3
Chromosome	3
Chromosome location	3p14.3

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT713954	hsa-miR-580-5p	HITS-CLIP	19536157
MIRT713953	hsa-miR-4494	HITS-CLIP	19536157
MIRT713952	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT713951	hsa-miR-6505-3p	HITS-CLIP	19536157
MIRT713950	hsa-miR-340-5p	HITS-CLIP	19536157
MIRT713949	hsa-miR-3942-3p	HITS-CLIP	19536157
MIRT713948	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT713947	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT713946	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT713954	hsa-miR-580-5p	HITS-CLIP	19536157
MIRT713953	hsa-miR-4494	HITS-CLIP	19536157
MIRT713952	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT713951	hsa-miR-6505-3p	HITS-CLIP	19536157
MIRT713950	hsa-miR-340-5p	HITS-CLIP	19536157
MIRT713949	hsa-miR-3942-3p	HITS-CLIP	19536157
MIRT713948	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT713947	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT713946	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT1083554	hsa-miR-1279	CLIP-seq
MIRT1083555	hsa-miR-1324	CLIP-seq
MIRT1083556	hsa-miR-140-3p	CLIP-seq
MIRT1083557	hsa-miR-153	CLIP-seq
MIRT1083558	hsa-miR-3145-3p	CLIP-seq
MIRT1083559	hsa-miR-3149	CLIP-seq
MIRT1083560	hsa-miR-4775	CLIP-seq
MIRT1083561	hsa-miR-502-5p	CLIP-seq
MIRT1083562	hsa-miR-548v	CLIP-seq
MIRT1083563	hsa-miR-554	CLIP-seq
MIRT1083564	hsa-miR-579	CLIP-seq
MIRT1083565	hsa-miR-586	CLIP-seq
MIRT1083566	hsa-miR-587	CLIP-seq
MIRT1083567	hsa-miR-590-3p	CLIP-seq
MIRT1083568	hsa-miR-630	CLIP-seq
MIRT1083569	hsa-miR-659	CLIP-seq
MIRT2021052	hsa-miR-3126-3p	CLIP-seq
MIRT2021053	hsa-miR-4269	CLIP-seq
MIRT2021054	hsa-miR-4522	CLIP-seq
MIRT2021055	hsa-miR-4539	CLIP-seq
MIRT2021056	hsa-miR-4714-5p	CLIP-seq
MIRT2021057	hsa-miR-516b	CLIP-seq
MIRT2252679	hsa-miR-101	CLIP-seq
MIRT1083558	hsa-miR-3145-3p	CLIP-seq
MIRT2252680	hsa-miR-3529	CLIP-seq
MIRT2252681	hsa-miR-3614-5p	CLIP-seq
MIRT2252682	hsa-miR-379	CLIP-seq
MIRT2252683	hsa-miR-4451	CLIP-seq
MIRT2252684	hsa-miR-4490	CLIP-seq
MIRT2252685	hsa-miR-4645-3p	CLIP-seq
MIRT2252686	hsa-miR-4650-3p	CLIP-seq
MIRT2252687	hsa-miR-4774-5p	CLIP-seq
MIRT1083561	hsa-miR-502-5p	CLIP-seq
MIRT1083562	hsa-miR-548v	CLIP-seq
MIRT1083566	hsa-miR-587	CLIP-seq
MIRT1083569	hsa-miR-659	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21145461, 25416956, 25910212, 27152988, 29293652, 29892012, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	21472142
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030506	Function	Ankyrin binding	IDA	22573887
GO:0031430	Component	M band	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21472142, 25416956, 27152988, 32296183
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IDA	21472142
GO:0051260	Process	Protein homooligomerization	IEA
GO:0097602	Function	Cullin family protein binding	IBA
GO:0097602	Function	Cullin family protein binding	IDA	21472142

MIM	HGNC	e!Ensembl
618791	22235	ENSG00000168301

Q8NC69

Protein name

BTB/POZ domain-containing protein KCTD6 (KCASH3 protein) (Potassium channel tetramerization domain-containing protein 6)

Protein function

Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	14 → 105	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in cerebellum and brain. Expression is down-regulated in medulloblastoma. {ECO:0000269|PubMed:21472142}.

Sequence

MDNGDWGYMMTDPVTLNVGGHLYTTSLTTLTRYPDSMLGAMFGGDFPTARDPQGNYFIDR
DGPLFRYVLNFLRTSELTLPLDFKEFDLLRKEADFYQIEPLIQCLNDPKPLYPMDTFEEV
VELSSTRKLSKYSNPVAVIITQLTITTKVHSLLEGISNYFTKWNKHMMDTRDCQVSFTFG
PCDYHQEVSLRVHLMEYITKQGFTIRNTRVHHMSERANENTVEHNWTFCRLARKTDD

Sequence length

237

Interactions

View interactions

	Reactome
			RUNX1 regulates estrogen receptor mediated transcription Neddylation Estrogen-dependent gene expression 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 (3)

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.
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Dermatitis Atopic	Associate	38250727	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Inhibit	38250727	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCTD6 (potassium channel tetramerization domain containing 6)