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Protein Coding Gene : Espnl espin-like

Primary Identifier  MGI:2685402 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  227357
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables actin filament binding activity. Involved in sensory perception of sound. Is active in stereocilium tip. Is expressed in metanephros; saccule; submandibular gland; and testis. Orthologous to human ESPNL (espin like).
PHENOTYPE: Mice homozygous for a null allele exhibit high-frequency hearing loss and abnormal outer hair cell stereociliary bundle morphology, with the shortest row of stereocilia largely missing from the basal region, but no overt vestibular phenotype. [provided by MGI curators]
  • synonyms:
  • Espnl,
  • Gm556,
  • gene model 556, (NCBI),
  • LOC227357,
  • espin-like

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

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2 Involved In Mutations

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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

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For