Gene Gene information from NCBI Gene database.
Entrez ID 9424
Gene name Potassium two pore domain channel subfamily K member 6
Gene symbol KCNK6
Synonyms (NCBI Gene)
K2p6.1KCNK8TOSSTWIK-2TWIK2
Chromosome 19
Chromosome location 19q13.2
Summary This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by in
miRNA miRNA information provided by mirtarbase database.
531
miRTarBase ID miRNA Experiments Reference
MIRT696051 hsa-miR-548a-3p HITS-CLIP 23313552
MIRT696050 hsa-miR-548ar-3p HITS-CLIP 23313552
MIRT696049 hsa-miR-548az-3p HITS-CLIP 23313552
MIRT696048 hsa-miR-548e-3p HITS-CLIP 23313552
MIRT696047 hsa-miR-548f-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003073 Process Regulation of systemic arterial blood pressure IEA
GO:0003085 Process Negative regulation of systemic arterial blood pressure IEA
GO:0005242 Function Inward rectifier potassium channel activity TAS 10075682
GO:0005267 Function Potassium channel activity IDA 28381826
GO:0005267 Function Potassium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603939 6281 ENSG00000099337
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y257
Protein name Potassium channel subfamily K member 6 (Inward rectifying potassium channel protein TWIK-2) (TWIK-originated similarity sequence)
Protein function K(+) channel that conducts outward rectifying currents at the membranes of the endolysosomal system (PubMed:10887187, PubMed:28381826). Active in lysosomes where it regulates lysosome numbers and size (PubMed:28381826). In macrophages, enables K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07885 Ion_trans_2 72 146 Ion channel Family
PF07885 Ion_trans_2 168 260 Ion channel Family
Tissue specificity TISSUE SPECIFICITY: Widespread expression, detected in all tissues tested except for skeletal muscle. Strongest expression in placenta, pancreas, heart, colon and spleen, lower levels detected in peripheral blood leukocytes, lung, liver, kidney and thymus
Sequence
MRRGALLAGALAAYAAYLVLGALLVARLEGPHEARLRAELETLRAQLLQRSPCVAAPALD
AFVERVLAAGRLGRVVLANASGSANASDPAWDFASALFFASTLITTVGYGYTTPLTDAGK
AFSIAFALLGVPTTMLLLTASAQRLS
LLLTHVPLSWLSMRWGWDPRRAACWHLVALLGVV
VTVCFLVPAVIFAHLEEAWSFLDAFYFCFISLSTIGLGDYVPGEAPGQPYRALYKVLVTV
YLFLGLVAMVLVLQTFRHVS
DLHGLTELILLPPPCPASFNADEDDRVDILGPQPESHQQL
SASSHTDYASIPR
Sequence length 313
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.).
1
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
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 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
Anemia Sickle Cell Sickle cell anemia Pubtator 20029952 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 32512817 Associate
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 34337010 Associate
★☆☆☆☆
Found in Text Mining only
Linear atrophy Atrophy BEFREE 14689445
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 36255321 Associate
★☆☆☆☆
Found in Text Mining only
Pulmonary Arterial Hypertension Pulmonary arterial hypertension Pubtator 34349187 Associate
★☆☆☆☆
Found in Text Mining only
Sarcoma Sarcoma BEFREE 29437071
★☆☆☆☆
Found in Text Mining only