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Gene : CPAMD8 Homo sapiens

Name  ? C3 and PZP like alpha-2-macroglobulin domain containing 8 Cytological Location  19p13.11
Brief Description  C3 and PZP like alpha-2-macroglobulin domain containing 8
Description  This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
  • synonyms:
  • CPAMD8,
  • NM_015692,
  • VIP,
  • HGNC:23228,
  • OTTHUMG00000133549,
  • AY101765,
  • VIP,
  • uc002nfb.4,
  • ASGD8,
  • KIAA1283,
  • K-CAP,
  • K-CAP
  • identifiers:
  • 27151,
  • ENSG00000160111,
  • CPAMD8

Genome feature

Region: gene ? Length: 133868  
Location: 19:16892951-17026818 reverse strand Cyto location: 19p13.11


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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

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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Gene --> Orthologues

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

464 SN Ps

5 Cross References

18 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results