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

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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

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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

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Uncertain significance	rs2464638221	RCV003447714
Autism, susceptibility to, 15	Uncertain significance	rs730882243, rs2464639062	RCV003992204 RCV003990867
Congenital cerebellar hypoplasia	Uncertain significance	rs730882243	RCV000162179
KCTD3-related disorder	Likely benign; Uncertain significance	rs145226766, rs2464578030, rs775634223, rs148938818	RCV003926761 RCV003404626 RCV003924324 RCV003959487
Seizure	Uncertain significance	rs730882243	RCV000162179
Severe global developmental delay	Uncertain significance	rs730882243	RCV000162179

KCTD3 (potassium channel tetramerization domain containing 3)