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Protein Coding Gene : Gja8 gap junction protein, alpha 8

Primary Identifier  MGI:99953 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  14616
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable gap junction channel activity and identical protein binding activity. Acts upstream of or within lens development in camera-type eye. Located in plasma membrane. Is expressed in several structures, including eye; testis; and thyroid gland. Used to study cataract 1 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Orthologous to human GJA8 (gap junction protein alpha 8).
PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators]
  • synonyms:
  • gap junction protein, alpha 8,
  • Cnx50,
  • Cx50,
  • Aey5,
  • MGI:96803,
  • MGD-MRK-16756,
  • MGI:2660661,
  • connexin 50,
  • dense cataract and microphthalmia,
  • alpha 8 connexin,
  • Lop10,
  • lens opacity 10,
  • Gja8,
  • dcm,
  • MGD-MRK-11851

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 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

5 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

 

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0 Driver For