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Gene : GAN Homo sapiens

Name  ? gigaxonin Cytological Location  16q23.2
Brief Description  gigaxonin
Description  This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
  • synonyms:
  • KLHL16,
  • giant axonal neuropathy (gigaxonin),
  • HGNC:4137,
  • uc002fgo.4,
  • GIG,
  • GAN1,
  • kelch-like family member 16,
  • GAN,
  • KLHL16,
  • AF291673,
  • GAN1,
  • OTTHUMG00000137627,
  • NM_001377486,
  • GIG
  • identifiers:
  • 8139,
  • ENSG00000261609,
  • GAN

Genome feature

Region: gene ? Length: 75848  
Location: 16:81314962-81390809 Cyto location: 16q23.2


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Function

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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

1 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

227 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results