KCNG2 (potassium voltage-gated channel modifier subfamily G member 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 26251
Gene name Potassium voltage-gated channel modifier subfamily G member 2
Gene symbol KCNG2
Synonyms (NCBI Gene)
KCNF2KV6.2
Chromosome 18
Chromosome location 18q23
Summary Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24 Show/Hide all (24)
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GO ID Ontology Definition Evidence Reference
GO:0001508 Process Action potential IBA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005267 Function Potassium channel activity IEA
GO:0005886 Component Plasma membrane 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
605696 6249 ENSG00000178342
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.
Q9UJ96
Protein name Voltage-gated potassium channel regulatory subunit KCNG2 (Cardiac potassium channel subunit) (Potassium voltage-gated channel subfamily G member 2) (Voltage-gated potassium channel subunit Kv6.2)
Protein function Regulatory alpha-subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1, can modulate the kinetics and conductance-voltage relationship (PubMed:10551266). Modulates channel activity by shifting the threshold and t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 176 → 416 Ion transport protein Family
PF02214 BTB_2 19 → 118 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, liver, skeletal muscle, kidney and pancreas. Detected at low levels in brain, lung and placenta. {ECO:0000269|PubMed:10551266}.
Sequence 
MEPWPCSPGGGGGTRARHVIINVGGCRVRLAWAALARCPLARLERLRACRGHDDLLRVCD
DYDVSRDEFFFDRSPCAFRAIVALLRAGKLRLLRGPCALAFRDELAYWGIDEARLERCCL
RRLRRREEEAAEARAGPTERGAQGSPARALGPRGRLQRGRRRLRDVVDNPHSGLAGKLFA
CVSVSFVAVTAVGLCLSTMPDIRAEEERGECSPKCRSLFVLETVCVAWFSFEFLLRSLQA
ESKCAFLRAPLNIIDILALLPFYVSLLLGLAAGPGGTKLLERAGLVLRLLRALRVLYVMR
LARHSLGLRSLGLTMRRCAREFGLLLLFLCVAMALFAPLVHLAERELGARRDFSSVPASY
WWAVISMTTVGYGDMVPRSLPGQVVALSSILSGILLMAFPVTSIFHTFSRSYSELKEQQQ
RAASPEPALQEDSTHSATATEDSSQGPDSAGLADDSADALWVRAGR
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Voltage gated Potassium channels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
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.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog 20801717
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 33479212, 34446935, 36137488
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 33479212
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 33479212
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — GWAS catalog 31488892
★★★★★
★★☆☆☆
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
Glioma Glioma Pubtator 24358143 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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KCNB1 2 shared pathwaysGlucagon-like Peptide-1 (GLP1) regulates insulin secretion, Voltage gated Potassium channels Related via 2 shared pathways including Glucagon-like Peptide-1 (GLP1) regulates insulin secretion, Voltage gated Potassium channels. KCNC2 2 shared pathwaysGlucagon-like Peptide-1 (GLP1) regulates insulin secretion, Voltage gated Potassium channels Related via 2 shared pathways including Glucagon-like Peptide-1 (GLP1) regulates insulin secretion, Voltage gated Potassium channels. KCNS3 2 shared pathwaysGlucagon-like Peptide-1 (GLP1) regulates insulin secretion, Voltage gated Potassium channels 1 shared evidence sourceGWAS catalog (Amyotrophic lateral sclerosis) Related via 2 shared pathways including Glucagon-like Peptide-1 (GLP1) regulates insulin secretion, Voltage gated Potassium channels — evidence mostly GWAS catalog. TSPAN9 1 shared diseasePsychiatric disorders 3 shared evidence sourcesGWAS catalog (Amyotrophic lateral sclerosis), GWAS catalog (Endometriosis), GWAS catalog (Psychiatric disorders) Related via 1 shared disease including Psychiatric disorders — evidence mostly GWAS catalog. KDM4A 1 shared diseasePsychiatric disorders 2 shared evidence sourcesGWAS catalog (Amyotrophic lateral sclerosis), GWAS catalog (Psychiatric disorders) Related via 1 shared disease including Psychiatric disorders — evidence mostly GWAS catalog.
Developmental and epileptic encephalopathy Linked via 2 of 5 related genesKCNB1, KCNC2 Scoliosis Linked via 2 of 5 related genesKCNC2, KCNS3 Coronary artery disease Linked via 2 of 5 related genesKCNS3, TSPAN9 Anorexia nervosa Linked via 1 of 5 related genesKCNB1 Atrial fibrillation Linked via 1 of 5 related genesKCNB1