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Protein Coding Gene : Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2

Primary Identifier  MGI:104744 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  16518
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables identical protein binding activity. Acts upstream of or within cardiac muscle cell action potential and magnesium ion transport. Predicted to be located in several cellular components, including T-tubule; dendritic spine; and intercalated disc. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in glutamatergic synapse and postsynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in Andersen-Tawil syndrome; familial atrial fibrillation; familial periodic paralysis; and short QT syndrome. Orthologous to human KCNJ2 (potassium inwardly rectifying channel subfamily J member 2).
PHENOTYPE: Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. [provided by MGI curators]
  • synonyms:
  • Kcnf1,
  • K+ voltage gated channel, inward rectifier 1,
  • MGD-MRK-11578,
  • Kcnj2,
  • Kir2.1,
  • IRK1,
  • potassium inwardly-rectifying channel, subfamily J, member 2,
  • MGD-MRK-28035

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

7 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

15 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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