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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	284252
Gene name	Potassium channel tetramerization domain containing 1
Gene symbol	KCTD1
Synonyms (NCBI Gene)	C18orf5
Chromosome	18
Chromosome location	18q11.2
Summary	This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors a

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776998	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs587776999	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs587777000	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs587777001	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777002	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777003	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853124	G>T	Pathogenic	Coding sequence variant, missense variant
rs878853125	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041986	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052617	hsa-let-7a-5p	CLASH	23622248
MIRT048196	hsa-miR-196a-5p	CLASH	23622248
MIRT1082718	hsa-miR-450b-5p	CLIP-seq
MIRT1082719	hsa-miR-4722-3p	CLIP-seq
MIRT1082720	hsa-miR-4762-3p	CLIP-seq
MIRT1082721	hsa-miR-1197	CLIP-seq
MIRT1082722	hsa-miR-29a	CLIP-seq
MIRT1082723	hsa-miR-29b	CLIP-seq
MIRT1082724	hsa-miR-29c	CLIP-seq
MIRT1082725	hsa-miR-3065-3p	CLIP-seq
MIRT1082726	hsa-miR-4436a	CLIP-seq
MIRT1082727	hsa-miR-4493	CLIP-seq
MIRT1082728	hsa-miR-4529-5p	CLIP-seq
MIRT2020660	hsa-miR-1294	CLIP-seq
MIRT2020661	hsa-miR-129-5p	CLIP-seq
MIRT2020662	hsa-miR-197	CLIP-seq
MIRT2020663	hsa-miR-23a	CLIP-seq
MIRT2020664	hsa-miR-23b	CLIP-seq
MIRT2020665	hsa-miR-23c	CLIP-seq
MIRT2020666	hsa-miR-3138	CLIP-seq
MIRT2020667	hsa-miR-3613-3p	CLIP-seq
MIRT2020668	hsa-miR-4316	CLIP-seq
MIRT2020669	hsa-miR-4677-3p	CLIP-seq
MIRT2020670	hsa-miR-4679	CLIP-seq
MIRT2020671	hsa-miR-561	CLIP-seq
MIRT1082721	hsa-miR-1197	CLIP-seq
MIRT2020661	hsa-miR-129-5p	CLIP-seq
MIRT2020662	hsa-miR-197	CLIP-seq
MIRT1082722	hsa-miR-29a	CLIP-seq
MIRT1082723	hsa-miR-29b	CLIP-seq
MIRT1082724	hsa-miR-29c	CLIP-seq
MIRT1082725	hsa-miR-3065-3p	CLIP-seq
MIRT2252336	hsa-miR-3173-3p	CLIP-seq
MIRT2252337	hsa-miR-3657	CLIP-seq
MIRT2252338	hsa-miR-3909	CLIP-seq
MIRT2252339	hsa-miR-4428	CLIP-seq
MIRT1082728	hsa-miR-4529-5p	CLIP-seq
MIRT2252340	hsa-miR-4669	CLIP-seq
MIRT2252341	hsa-miR-665	CLIP-seq
MIRT2252342	hsa-miR-892a	CLIP-seq
MIRT2555667	hsa-miR-1323	CLIP-seq
MIRT2555668	hsa-miR-182	CLIP-seq
MIRT2555669	hsa-miR-383	CLIP-seq
MIRT2555670	hsa-miR-4328	CLIP-seq
MIRT2555671	hsa-miR-4470	CLIP-seq
MIRT2555672	hsa-miR-4772-5p	CLIP-seq
MIRT2555673	hsa-miR-548a-3p	CLIP-seq
MIRT2555674	hsa-miR-548e	CLIP-seq
MIRT2555675	hsa-miR-548f	CLIP-seq
MIRT2555676	hsa-miR-548o	CLIP-seq
MIRT2555667	hsa-miR-1323	CLIP-seq
MIRT2555668	hsa-miR-182	CLIP-seq
MIRT2555669	hsa-miR-383	CLIP-seq
MIRT2555670	hsa-miR-4328	CLIP-seq
MIRT2555671	hsa-miR-4470	CLIP-seq
MIRT2555672	hsa-miR-4772-5p	CLIP-seq
MIRT2555673	hsa-miR-548a-3p	CLIP-seq
MIRT2555674	hsa-miR-548e	CLIP-seq
MIRT2555675	hsa-miR-548f	CLIP-seq
MIRT2555676	hsa-miR-548o	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	19115315
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 31515488, 32296183, 38113115
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19115315
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0008134	Function	Transcription factor binding	IPI	19115315
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 27152988, 32296183
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	19115315
GO:0051260	Process	Protein homooligomerization	IEA

MIM	HGNC	e!Ensembl
613420	18249	ENSG00000134504

Q719H9

Protein name

BTB/POZ domain-containing protein KCTD1 (Potassium channel tetramerization domain-containing protein 1)

Protein function

May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.

PDB

5BXB , 5BXD , 6S4L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	32 → 124	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in mammary gland, kidney, brain and ovary. {ECO:0000269|PubMed:18358072}.

Sequence

MSRPLITRSPASPLNNQGIPTPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPESRIGRLF
DGTEPIVLDSLKQHYFIDRDGQMFRYILNFLRTSKLLIPDDFKDYTLLYEEAKYFQLQPM
LLEMERWKQDRETGRFSRPCECLVVRVAPDLGERITLSGDKSLIEEVFPEIGDVMCNSVN
AGWNHDSTHVIRFPLNGYCHLNSVQVLERLQQRGFEIVGSCGGGVDSSQFSEYVLRRELR
RTPRVPSVIRIKQEPLD

Sequence length

257

Interactions

View interactions

	Reactome
			Negative regulation of activity of TFAP2 (AP-2) family transcription factors

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Scalp-ear-nipple syndrome	Pathogenic; Likely pathogenic	rs878853124, rs878853125, rs2510943436, rs587776998, rs587776999, rs587777000, rs587777001, rs587777002, rs587777003	RCV000224280 RCV000224008 RCV004594860 RCV000049292 RCV000049293 RCV000049294 RCV000049295 RCV000049296 RCV000049297 RCV000049298 RCV000049299

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KCTD1-related disorder	Benign; Uncertain significance; Likely benign	rs3755, rs752591756, rs2511003776, rs1906564359, rs566359343, rs569158282, rs2511006045	RCV003980852 RCV003953903 RCV003392943 RCV003896534 RCV003912239 RCV003939312 RCV003932073

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35441736
Branchio Oto Renal Syndrome	Associate	23541344
Char syndrome	Associate	33000225
Chromosome Inversion	Associate	31990937
Craniofacial Abnormalities	Associate	38296633
Death Sudden Cardiac	Associate	21658281
Diabetic Retinopathy	Associate	38194422
Ectodermal Dysplasia	Associate	23541344, 38296633
Genetic Diseases Inborn	Associate	33000225
Heart Defects Congenital	Associate	33000225
Holt Oram syndrome	Associate	33000225
Inflammation	Associate	38194422
Neoplasms	Inhibit	37597490
Scalp ear nipple syndrome	Associate	23541344, 31324836, 33000225, 38296633

KCTD1 (potassium channel tetramerization domain containing 1)