KCTD18 (potassium channel tetramerization domain containing 18)

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Gene Gene information from NCBI Gene database.
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Entrez ID 130535
Gene name Potassium channel tetramerization domain containing 18
Gene symbol KCTD18
Synonyms (NCBI Gene)
6530404F10Rik
Chromosome 2
Chromosome location 2q33.1
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT1083019 hsa-miR-4652-3p CLIP-seq
MIRT1083020 hsa-miR-4698 CLIP-seq
MIRT1083021 hsa-miR-4778-5p CLIP-seq
MIRT1083022 hsa-miR-548c-3p CLIP-seq
MIRT2020754 hsa-miR-1238 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0042802 Function Identical protein binding IEA
GO:0051260 Process Protein homooligomerization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PI47
Protein name BTB/POZ domain-containing protein KCTD18
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 14 → 103 BTB/POZ domain Domain
Sequence 
MEGHKAEEEVLDVLRLNVGGCIYTARRESLCRFKDSMLASMFSGRFPLKTDESGACVIDR
DGRLFKYLLDYLHGEVQIPTDEQTRIALQEEADYFGIPYPYSLSDHLANEMETYSLRSNI
ELKKALTDFCDSYGLVCNKPTVWVLHYLNTSGASCESRIIGVYATKTDGTDAIEKQLGGR
IHSKGIFKREAGNNVQYIWSYYSVAELKKMMDAFDAWEGKGVSYWRVPHELIECWTLEER
PLLGSLRHMAPIRKRRLITFNEADESVNYKTGPKPVRFLGPSTSTQIKVKNSASVTVSPA
SAIQTSAGATANRFQSGSRRKAAQRSAPSRATALVGTGAPGHPQASPGAASAENGGTHLP
PAKVLLSDKKPTPQRVIKLKRTPLCATAPCLPSPTATRQANSLKPLPGEAARALGVRTEN
GKNKGN
Sequence length 426
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
Hepatocellular carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KCTD18-related disorder Uncertain significance; Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE — GWAS catalog 26545240
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Mellitus Diabetes mellitus Pubtator 35320353 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma Pubtator 36982708 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Restless Legs Syndrome Restless Legs Syndrome BEFREE 23054586
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for KCTD18.

No additional diseases found yet through genes similar to KCTD18.