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Protein Coding Gene : Ank3 ankyrin 3, epithelial

Primary Identifier  MGI:88026 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  11735
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables transmembrane transporter binding activity. Involved in several processes, including cellular response to magnesium ion; negative regulation of delayed rectifier potassium channel activity; and neuronal action potential. Acts upstream of or within axon guidance; protein localization to axon; and synapse organization. Located in several cellular components, including intercalated disc; main axon; and synapse. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; heart; retina inner plexiform layer; skeletal muscle; and urinary system. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 37; bipolar disorder; and schizophrenia. Orthologous to human ANK3 (ankyrin 3).
PHENOTYPE: Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-1326,
  • Ankyrin-3,
  • MGI:1920263,
  • Ank-3,
  • MGD-MRK-1329,
  • RIKEN cDNA 2900054D09 gene,
  • expressed sequence AI314020,
  • ankyrin 3, epithelial,
  • Ank3,
  • AI314020,
  • AnkG,
  • Ankyrin-G,
  • 2900054D09Rik,
  • MGI:2143560,
  • ankyrin 3, brain

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 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

0 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

0 Driver For