help  | about  | cite  | software

Gene : ABHD5 Homo sapiens

Name  ? abhydrolase domain containing 5 Cytological Location  3p21.33
Brief Description  abhydrolase domain containing 5
description  The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ABHD5,
  • HGNC:21396,
  • IECN2,
  • AF007132,
  • uc003cmx.4,
  • OTTHUMG00000133039,
  • CGI-58,
  • CGI58,
  • NM_016006,
  • NCIE2,
  • NCIE2
  • identifiers:
  • 51099,
  • ENSG00000011198,
  • ABHD5

Genome feature

Region: gene ? Length: 43502  
Location: 3:43690870-43734371 Cyto location: 3p21.33

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer

Gene --> Orthologues


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



744 SN Ps

5 Cross References

19 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results