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Gene : OPTC Homo sapiens

Name  ? opticin Cytological Location  1q32.1
Brief Description  opticin
Description  Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
  • synonyms:
  • AF161702,
  • OTTHUMG00000036100,
  • uc001gzu.2,
  • NM_014359,
  • HGNC:8158,
  • oculoglycan,
  • OPT,
  • OPTC
  • identifiers:
  • 26254,
  • ENSG00000188770,
  • OPTC

Genome feature

Region: gene ? Length: 14797  
Location: 1:203494153-203508949 Cyto location: 1q32.1


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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.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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

142 SN Ps

4 Cross References

14 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results