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Gene : C1R Homo sapiens

Name  ? complement C1r Cytological Location  12p13.31
Brief Description  complement C1r
Description  This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
  • synonyms:
  • EDSPD1,
  • NM_001733,
  • OTTHUMG00000168149,
  • C1R,
  • M14058,
  • HGNC:1246,
  • complement component 1, r subcomponent,
  • uc031ysf.2
  • identifiers:
  • 715,
  • ENSG00000159403,
  • C1R

Genome feature

Region: gene ? Length: 12227  
Location: 12:7080219-7092445 reverse strand Cyto location: 12p13.31


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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.

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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

36 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results