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Gene : CPA6 Homo sapiens

Name  ? carboxypeptidase A6 Cytological Location  8q13.2
Brief Description  carboxypeptidase A6
Description  The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]
  • synonyms:
  • FEB11,
  • AF221594,
  • HGNC:17245,
  • NM_020361,
  • ETL5,
  • CPAH,
  • OTTHUMG00000164575,
  • CPAH,
  • CPA6,
  • uc003xxq.5
  • identifiers:
  • 57094,
  • ENSG00000165078,
  • CPA6

Genome feature

Region: gene ? Length: 325077  
Location: 8:67422038-67747114 reverse strand Cyto location: 8q13.2


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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

357 SN Ps

5 Cross References

17 Data Sets

24 Homologues

0 Located Features

97 Rna Seq Results