Gene Gene information from NCBI Gene database.
Entrez ID 3775
Gene name Potassium two pore domain channel subfamily K member 1
Gene symbol KCNK1
Synonyms (NCBI Gene)
DPKHOHOK2P1K2p1.1KCNO1TWIK-1TWIK1
Chromosome 1
Chromosome location 1q42.2
Summary This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins fo
miRNA miRNA information provided by mirtarbase database.
405
miRTarBase ID miRNA Experiments Reference
MIRT019653 hsa-miR-340-5p Sequencing 20371350
MIRT022480 hsa-miR-124-3p Microarray 18668037
MIRT028202 hsa-miR-33a-5p Sequencing 20371350
MIRT710232 hsa-miR-939-3p HITS-CLIP 19536157
MIRT710231 hsa-miR-6852-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity TAS 8605869
GO:0005249 Function Voltage-gated potassium channel activity IDA 21653227
GO:0005267 Function Potassium channel activity IDA 22282804
GO:0005267 Function Potassium channel activity IEA
GO:0005272 Function Sodium channel activity IDA 21653227
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601745 6272 ENSG00000135750
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00180
Protein name Potassium channel subfamily K member 1 (Inward rectifying potassium channel protein TWIK-1) (Potassium channel K2P1) (Potassium channel KCNO1)
Protein function Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric chan
PDB 3UKM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07885 Ion_trans_2 82 158 Ion channel Family
PF07885 Ion_trans_2 190 271 Ion channel Family
Tissue specificity TISSUE SPECIFICITY: Detected in bronchial epithelial cells (PubMed:21964404). Detected in heart left atrium and left ventricle (PubMed:17478540). Detected in cardiac myocytes (at protein level) (PubMed:21653227). Widely expressed with high levels in heart
Sequence
MLQSLAGSSCVRLVERHRSAWCFGFLVLGYLLYLVFGAVVFSSVELPYEDLLRQELRKLK
RRFLEEHECLSEQQLEQFLGRVLEASNYGVSVLSNASGNWNWDFTSALFFASTVLSTTGY
GHTVPLSDGGKAFCIIYSVIGIPFTLLFLTAVVQRITV
HVTRRPVLYFHIRWGFSKQVVA
IVHAVLLGFVTVSCFFFIPAAVFSVLEDDWNFLESFYFCFISLSTIGLGDYVPGEGYNQK
FRELYKIGITCYLLLGLIAMLVVLETFCELH
ELKKFRKMFYVKKDKDEDQVHIIEHDQLS
FSSITDQAAGMKEDQKQNEPFVATQSSACVDGPANH
Sequence length 336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)
Phase 4 - resting membrane potential
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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 Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY GWAS catalog
★★☆☆☆
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
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29050937
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 15942582 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 16027256, 27103460
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31362134
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome BEFREE 19029124
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 26503814
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 26503814
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis BEFREE 25056994
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis Pubtator 25056994 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 18239687
★☆☆☆☆
Found in Text Mining only