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Protein Coding Gene : Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8

Primary Identifier  MGI:1100508 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  16523
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable several functions, including ATP binding activity; sulfonylurea receptor binding activity; and voltage-gated monoatomic ion channel activity. Acts upstream of or within several processes, including heart development; intracellular signaling cassette; and neuroinflammatory response. Located in myofibril. Part of protein-containing complex. Is active in presynapse. Is expressed in genitourinary system and heart. Used to study coronary artery disease and hypertrichotic osteochondrodysplasia Cantu type. Orthologous to human KCNJ8 (potassium inwardly rectifying channel subfamily J member 8).
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators]
  • synonyms:
  • slumber,
  • goodnight,
  • gnite,
  • Kcnj8,
  • MGI:3626333,
  • slmbr,
  • sltr,
  • Kir6.1,
  • MGI:2141411,
  • MGI:3626329,
  • expressed sequence AI448900,
  • potassium inwardly-rectifying channel, subfamily J, member 8,
  • MGI:3626331,
  • AI448900,
  • solitaire

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

3 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

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

2 Driver For