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Gene : ESPN Homo sapiens

Name  ? espin Cytological Location  1p36.31
Brief Description  espin
Description  This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
  • synonyms:
  • DFNB36,
  • LP2654,
  • OTTHUMG00000000753,
  • DFNB36,
  • USH1M,
  • ESPN,
  • HGNC:13281,
  • AF134401,
  • NM_031475,
  • deafness, autosomal recessive 36,
  • uc001amy.3
  • identifiers:
  • 83715,
  • ENSG00000187017,
  • ESPN

Genome feature

Region: gene ? Length: 36592  
Location: 1:6424776-6461367 Cyto location: 1p36.31


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results