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	51133
Gene name	Potassium channel tetramerization domain containing 3
Gene symbol	KCTD3
Synonyms (NCBI Gene)	NY-REN-45
Chromosome	1
Chromosome location	1q41
Summary	This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730882243	CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

216

Show/Hide all (216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025044	hsa-miR-181a-5p	Microarray	17612493
MIRT047831	hsa-miR-30c-5p	CLASH	23622248
MIRT133557	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT133557	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT1083366	hsa-miR-1	CLIP-seq
MIRT1083367	hsa-miR-1237	CLIP-seq
MIRT1083368	hsa-miR-1266	CLIP-seq
MIRT1083369	hsa-miR-1285	CLIP-seq
MIRT1083370	hsa-miR-1305	CLIP-seq
MIRT1083371	hsa-miR-138	CLIP-seq
MIRT1083372	hsa-miR-140-5p	CLIP-seq
MIRT1083373	hsa-miR-141	CLIP-seq
MIRT1083374	hsa-miR-155	CLIP-seq
MIRT1083375	hsa-miR-190	CLIP-seq
MIRT1083376	hsa-miR-190b	CLIP-seq
MIRT1083377	hsa-miR-197	CLIP-seq
MIRT1083378	hsa-miR-200a	CLIP-seq
MIRT1083379	hsa-miR-204	CLIP-seq
MIRT1083380	hsa-miR-2053	CLIP-seq
MIRT1083381	hsa-miR-206	CLIP-seq
MIRT1083382	hsa-miR-211	CLIP-seq
MIRT1083383	hsa-miR-219-5p	CLIP-seq
MIRT1083384	hsa-miR-29a	CLIP-seq
MIRT1083385	hsa-miR-29b	CLIP-seq
MIRT1083386	hsa-miR-29c	CLIP-seq
MIRT1083387	hsa-miR-3126-3p	CLIP-seq
MIRT1083388	hsa-miR-3157-3p	CLIP-seq
MIRT1083389	hsa-miR-3187-5p	CLIP-seq
MIRT1083390	hsa-miR-323-3p	CLIP-seq
MIRT1083391	hsa-miR-330-3p	CLIP-seq
MIRT1083392	hsa-miR-3545-5p	CLIP-seq
MIRT1083393	hsa-miR-3617	CLIP-seq
MIRT1083394	hsa-miR-3646	CLIP-seq
MIRT1083395	hsa-miR-3664-3p	CLIP-seq
MIRT1083396	hsa-miR-3673	CLIP-seq
MIRT1083397	hsa-miR-3674	CLIP-seq
MIRT1083398	hsa-miR-3680	CLIP-seq
MIRT1083399	hsa-miR-3689a-3p	CLIP-seq
MIRT1083400	hsa-miR-3689c	CLIP-seq
MIRT1083401	hsa-miR-376c	CLIP-seq
MIRT1083402	hsa-miR-378g	CLIP-seq
MIRT1083403	hsa-miR-4269	CLIP-seq
MIRT1083404	hsa-miR-4272	CLIP-seq
MIRT1083405	hsa-miR-4275	CLIP-seq
MIRT1083406	hsa-miR-4307	CLIP-seq
MIRT1083407	hsa-miR-4314	CLIP-seq
MIRT1083408	hsa-miR-432	CLIP-seq
MIRT1083409	hsa-miR-4445	CLIP-seq
MIRT1083410	hsa-miR-4446-5p	CLIP-seq
MIRT1083411	hsa-miR-4450	CLIP-seq
MIRT1083412	hsa-miR-4460	CLIP-seq
MIRT1083413	hsa-miR-4486	CLIP-seq
MIRT1083414	hsa-miR-4490	CLIP-seq
MIRT1083415	hsa-miR-4514	CLIP-seq
MIRT1083416	hsa-miR-4518	CLIP-seq
MIRT1083417	hsa-miR-4692	CLIP-seq
MIRT1083418	hsa-miR-4699-5p	CLIP-seq
MIRT1083419	hsa-miR-4719	CLIP-seq
MIRT1083420	hsa-miR-4742-5p	CLIP-seq
MIRT1083421	hsa-miR-4755-5p	CLIP-seq
MIRT1083422	hsa-miR-4774-5p	CLIP-seq
MIRT1083423	hsa-miR-4780	CLIP-seq
MIRT1083424	hsa-miR-4782-3p	CLIP-seq
MIRT1083425	hsa-miR-4786-5p	CLIP-seq
MIRT1083426	hsa-miR-508-3p	CLIP-seq
MIRT1083427	hsa-miR-5096	CLIP-seq
MIRT1083428	hsa-miR-513a-3p	CLIP-seq
MIRT1083429	hsa-miR-513b	CLIP-seq
MIRT1083430	hsa-miR-578	CLIP-seq
MIRT1083431	hsa-miR-590-3p	CLIP-seq
MIRT1083432	hsa-miR-612	CLIP-seq
MIRT1083433	hsa-miR-613	CLIP-seq
MIRT1083434	hsa-miR-622	CLIP-seq
MIRT1083435	hsa-miR-623	CLIP-seq
MIRT1083436	hsa-miR-641	CLIP-seq
MIRT1083437	hsa-miR-767-5p	CLIP-seq
MIRT1083438	hsa-miR-874	CLIP-seq
MIRT1083439	hsa-miR-888	CLIP-seq
MIRT1083440	hsa-miR-938	CLIP-seq
MIRT1921368	hsa-miR-150	CLIP-seq
MIRT1921369	hsa-miR-3156-5p	CLIP-seq
MIRT1921370	hsa-miR-3658	CLIP-seq
MIRT1921371	hsa-miR-4639-5p	CLIP-seq
MIRT1921372	hsa-miR-4713-5p	CLIP-seq
MIRT1921373	hsa-miR-532-3p	CLIP-seq
MIRT1083366	hsa-miR-1	CLIP-seq
MIRT1083370	hsa-miR-1305	CLIP-seq
MIRT1083374	hsa-miR-155	CLIP-seq
MIRT1083381	hsa-miR-206	CLIP-seq
MIRT2021011	hsa-miR-302f	CLIP-seq
MIRT2021012	hsa-miR-3662	CLIP-seq
MIRT1083396	hsa-miR-3673	CLIP-seq
MIRT1083398	hsa-miR-3680	CLIP-seq
MIRT1083408	hsa-miR-432	CLIP-seq
MIRT1083411	hsa-miR-4450	CLIP-seq
MIRT1083414	hsa-miR-4490	CLIP-seq
MIRT2021013	hsa-miR-4509	CLIP-seq
MIRT1921371	hsa-miR-4639-5p	CLIP-seq
MIRT2021014	hsa-miR-4698	CLIP-seq
MIRT2021015	hsa-miR-4724-5p	CLIP-seq
MIRT2021016	hsa-miR-4744	CLIP-seq
MIRT2021017	hsa-miR-488	CLIP-seq
MIRT1083428	hsa-miR-513a-3p	CLIP-seq
MIRT2021018	hsa-miR-561	CLIP-seq
MIRT1083430	hsa-miR-578	CLIP-seq
MIRT1083433	hsa-miR-613	CLIP-seq
MIRT1083366	hsa-miR-1	CLIP-seq
MIRT1083370	hsa-miR-1305	CLIP-seq
MIRT1083371	hsa-miR-138	CLIP-seq
MIRT1083381	hsa-miR-206	CLIP-seq
MIRT2021011	hsa-miR-302f	CLIP-seq
MIRT2252642	hsa-miR-3147	CLIP-seq
MIRT1083396	hsa-miR-3673	CLIP-seq
MIRT1083398	hsa-miR-3680	CLIP-seq
MIRT1083399	hsa-miR-3689a-3p	CLIP-seq
MIRT1083400	hsa-miR-3689c	CLIP-seq
MIRT2252643	hsa-miR-3691-3p	CLIP-seq
MIRT1083408	hsa-miR-432	CLIP-seq
MIRT2252644	hsa-miR-4425	CLIP-seq
MIRT1083411	hsa-miR-4450	CLIP-seq
MIRT2252645	hsa-miR-4501	CLIP-seq
MIRT2252646	hsa-miR-4652-3p	CLIP-seq
MIRT2252647	hsa-miR-4778-5p	CLIP-seq
MIRT1083425	hsa-miR-4786-5p	CLIP-seq
MIRT2021018	hsa-miR-561	CLIP-seq
MIRT1083430	hsa-miR-578	CLIP-seq
MIRT2252648	hsa-miR-595	CLIP-seq
MIRT2252649	hsa-miR-607	CLIP-seq
MIRT1083433	hsa-miR-613	CLIP-seq
MIRT1083434	hsa-miR-622	CLIP-seq
MIRT2252648	hsa-miR-595	CLIP-seq
MIRT1083367	hsa-miR-1237	CLIP-seq
MIRT2555760	hsa-miR-1256	CLIP-seq
MIRT2555761	hsa-miR-1271	CLIP-seq
MIRT1083369	hsa-miR-1285	CLIP-seq
MIRT1083370	hsa-miR-1305	CLIP-seq
MIRT2555762	hsa-miR-137	CLIP-seq
MIRT1083372	hsa-miR-140-5p	CLIP-seq
MIRT1083374	hsa-miR-155	CLIP-seq
MIRT2555763	hsa-miR-182	CLIP-seq
MIRT1083379	hsa-miR-204	CLIP-seq
MIRT1083382	hsa-miR-211	CLIP-seq
MIRT2021011	hsa-miR-302f	CLIP-seq
MIRT1083387	hsa-miR-3126-3p	CLIP-seq
MIRT1921369	hsa-miR-3156-5p	CLIP-seq
MIRT1083388	hsa-miR-3157-3p	CLIP-seq
MIRT1083389	hsa-miR-3187-5p	CLIP-seq
MIRT1083391	hsa-miR-330-3p	CLIP-seq
MIRT1083392	hsa-miR-3545-5p	CLIP-seq
MIRT1921370	hsa-miR-3658	CLIP-seq
MIRT1083401	hsa-miR-376c	CLIP-seq
MIRT1083402	hsa-miR-378g	CLIP-seq
MIRT1083407	hsa-miR-4314	CLIP-seq
MIRT2555764	hsa-miR-4327	CLIP-seq
MIRT1083410	hsa-miR-4446-5p	CLIP-seq
MIRT1083412	hsa-miR-4460	CLIP-seq
MIRT1083413	hsa-miR-4486	CLIP-seq
MIRT1083414	hsa-miR-4490	CLIP-seq
MIRT1921371	hsa-miR-4639-5p	CLIP-seq
MIRT2555765	hsa-miR-4642	CLIP-seq
MIRT2555766	hsa-miR-4668-3p	CLIP-seq
MIRT1083421	hsa-miR-4755-5p	CLIP-seq
MIRT2555767	hsa-miR-4766-3p	CLIP-seq
MIRT1083422	hsa-miR-4774-5p	CLIP-seq
MIRT1083423	hsa-miR-4780	CLIP-seq
MIRT2555768	hsa-miR-4793-5p	CLIP-seq
MIRT2555769	hsa-miR-4795-3p	CLIP-seq
MIRT2021017	hsa-miR-488	CLIP-seq
MIRT2555770	hsa-miR-494	CLIP-seq
MIRT2555771	hsa-miR-548u	CLIP-seq
MIRT2021018	hsa-miR-561	CLIP-seq
MIRT2555772	hsa-miR-582-3p	CLIP-seq
MIRT2252649	hsa-miR-607	CLIP-seq
MIRT1083432	hsa-miR-612	CLIP-seq
MIRT1083435	hsa-miR-623	CLIP-seq
MIRT1083438	hsa-miR-874	CLIP-seq
MIRT1083439	hsa-miR-888	CLIP-seq
MIRT2555773	hsa-miR-889	CLIP-seq
MIRT1083440	hsa-miR-938	CLIP-seq
MIRT2555774	hsa-miR-96	CLIP-seq
MIRT1083367	hsa-miR-1237	CLIP-seq
MIRT2555760	hsa-miR-1256	CLIP-seq
MIRT2555761	hsa-miR-1271	CLIP-seq
MIRT1083369	hsa-miR-1285	CLIP-seq
MIRT1083370	hsa-miR-1305	CLIP-seq
MIRT2555763	hsa-miR-182	CLIP-seq
MIRT1083379	hsa-miR-204	CLIP-seq
MIRT1083382	hsa-miR-211	CLIP-seq
MIRT2021011	hsa-miR-302f	CLIP-seq
MIRT1083388	hsa-miR-3157-3p	CLIP-seq
MIRT1083389	hsa-miR-3187-5p	CLIP-seq
MIRT1083391	hsa-miR-330-3p	CLIP-seq
MIRT1083402	hsa-miR-378g	CLIP-seq
MIRT1083407	hsa-miR-4314	CLIP-seq
MIRT1083410	hsa-miR-4446-5p	CLIP-seq
MIRT1083413	hsa-miR-4486	CLIP-seq
MIRT1921371	hsa-miR-4639-5p	CLIP-seq
MIRT2555765	hsa-miR-4642	CLIP-seq
MIRT2555766	hsa-miR-4668-3p	CLIP-seq
MIRT1083421	hsa-miR-4755-5p	CLIP-seq
MIRT2555767	hsa-miR-4766-3p	CLIP-seq
MIRT1083423	hsa-miR-4780	CLIP-seq
MIRT2555768	hsa-miR-4793-5p	CLIP-seq
MIRT2555769	hsa-miR-4795-3p	CLIP-seq
MIRT2021017	hsa-miR-488	CLIP-seq
MIRT2555770	hsa-miR-494	CLIP-seq
MIRT2021018	hsa-miR-561	CLIP-seq
MIRT2555772	hsa-miR-582-3p	CLIP-seq
MIRT2252649	hsa-miR-607	CLIP-seq
MIRT1083432	hsa-miR-612	CLIP-seq
MIRT1083435	hsa-miR-623	CLIP-seq
MIRT1083438	hsa-miR-874	CLIP-seq
MIRT1083439	hsa-miR-888	CLIP-seq
MIRT2555773	hsa-miR-889	CLIP-seq
MIRT1083440	hsa-miR-938	CLIP-seq
MIRT2555774	hsa-miR-96	CLIP-seq

Show/Hide all (4)

GO ID	Ontology	Definition	Evidence
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0051260	Process	Protein homooligomerization	IEA

MIM	HGNC	e!Ensembl
613272	21305	ENSG00000136636

Q9Y597

Protein name

BTB/POZ domain-containing protein KCTD3 (Renal carcinoma antigen NY-REN-45)

Protein function

Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) up-regulating its cell-surface expression and current density without affecting its voltage dependence and kinetics. {ECO:0000250|UniProtK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	20 → 109	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed in normal tissues. {ECO:0000269|PubMed:10508479}.

Sequence

MAGGHCGSFPAAAAGSGEIVQLNVGGTRFSTSRQTLMWIPDSFFSSLLSGRISTLRDETG
AIFIDRDPAAFAPILNFLRTKELDLRGVSINVLRHEAEFYGITPLVRRLLLCEELERSSC
GSVLFHGYLPPPGIPSRKINNTVRSADSRNGLNSTEGEARGNGTQPVLSGTGEETVRLGF
PVDPRKVLIVAGHHNWIVAAYAHFAVCYRIKESSGWQQVFTSPYLDWTIERVALNAKVVG
GPHGDKDKMVAVASESSIILWSVQDGGSGSEIGVFSLGVPVDALFFIGNQLVATSHTGKV
GVWNAVTQHWQVQDVVPITSYDTAGSFLLLGCNNGSIYYIDMQKFPLRMKDNDLLVTELY
HDPSNDAITALSVYLTPKTSVSGNWIEIAYGTSSGAVRVIVQHPETVGSGPQLFQTFTVH
RSPVTKIMLSEKHLVSVCADNNHVRTWTVTRFRGMISTQPGSTPLASFKILSLEETESHG
SYSSGNDIGPFGERDDQQVFIQKVVPITNKLFVRLSSTGKRICEIQAVDCTTISSFTVRE
CEGSSRMGSRPRRYLFTGHTNGSIQMWDLTTAMDMVNKSEDKDVGGPTEEELLKLLDQCD
LSTSRCATPNISPATSVVQHSHLRESNSSLQLQHHDTTHEAATYGSMRPYRESPLLARAR
RTESFHSYRDFQTINLNRNVERAVPENGNLGPIQAEVKGATGECNISERKSPGVEIKSLR
ELDSGLEVHKIAEGFSESKKRSSEDENENKIEFRKKGGFEGGGFLGRKKVPYLASSPSTS
DGGTDSPGTASPSPTKTTPSPRHKKSDSSGQEYSL

Sequence length

815

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 (9)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism, susceptibility to, 15	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCTD3-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe global developmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	25558065	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29406573	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCTD3 (potassium channel tetramerization domain containing 3)