KCNJ12 (potassium inwardly rectifying channel subfamily J member 12)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 3768 |
| Gene name | Potassium inwardly rectifying channel subfamily J member 12 |
| Gene symbol | KCNJ12 |
| Synonyms (NCBI Gene) |
IRK-2IRK2KCNJN1Kir2.2hIRKhIRK1hkir2.2xkcnj12x
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| Chromosome | 17 |
| Chromosome location | 17p11.2 |
| Summary | This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located wi |
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miRNA
miRNA information provided by mirtarbase database.
468
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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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.
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Q14500 | ||||||||||||||||||||
| Protein name | ATP-sensitive inward rectifier potassium channel 12 (Inward rectifier K(+) channel Kir2.2) (IRK-2) (Inward rectifier K(+) channel Kir2.2v) (Potassium channel, inwardly rectifying subfamily J member 12) | ||||||||||||||||||||
| Protein function | Inward rectifying potassium channel that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle | ||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence | |||||||||||||||||||||
| Sequence length | 433 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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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)
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