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Gene : A2ML1 Homo sapiens

Name  ? alpha-2-macroglobulin like 1 Cytological Location  12p13.31
Brief Description  alpha-2-macroglobulin like 1
description  This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
  • synonyms:
  • p170,
  • HGNC:23336,
  • CPAMD9,
  • NM_144670,
  • CPAMD9,
  • OMS,
  • C3 and PZP-like, alpha-2-macroglobulin domain containing 9,
  • p170,
  • OTTHUMG00000128499,
  • FLJ25179,
  • AK057908,
  • uc001quz.6,
  • A2ML1
  • identifiers:
  • 144568,
  • ENSG00000166535,
  • A2ML1

Genome feature

Region: gene ? Length: 64731  
Location: 12:8822472-8887202 Cyto location: 12p13.31


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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

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

26 SN Ps

5 Cross References

17 Data Sets

29 Homologues

0 Located Features

90 Rna Seq Results