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Aliases for OPTC Gene

Aliases for OPTC Gene

External Ids for OPTC Gene

Previous GeneCards Identifiers for OPTC Gene

  • GC01M201246
  • GC01M198990
  • GC01P9D0052
  • GC00P9S0052
  • GC01P200194
  • GC01P201729
  • GC01P174628

Summaries for OPTC Gene

Entrez Gene Summary for OPTC Gene

  • 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]

GeneCards Summary for OPTC Gene

OPTC (Opticin) is a Protein Coding gene. Diseases associated with OPTC include Posterior Column Ataxia and Vitreous Detachment. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is EPYC.

UniProtKB/Swiss-Prot for OPTC Gene

  • Binds collagen fibrils.

Gene Wiki entry for OPTC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPTC Gene

Genomics for OPTC Gene

Regulatory Elements for OPTC Gene

Enhancers for OPTC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around OPTC on UCSC Golden Path with GeneCards custom track

Genomic Location for OPTC Gene

203,494,143 bp from pter
203,508,949 bp from pter
14,807 bases
Plus strand

Genomic View for OPTC Gene

Genes around OPTC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPTC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPTC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPTC Gene

Proteins for OPTC Gene

  • Protein details for OPTC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5T2G4

    Protein attributes for OPTC Gene

    332 amino acids
    Molecular mass:
    37261 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OPTC Gene

Post-translational modifications for OPTC Gene

Other Protein References for OPTC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OPTC Gene

Domains & Families for OPTC Gene

Protein Domains for OPTC Gene

Suggested Antigen Peptide Sequences for OPTC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 LRRNT domain.
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
  • Contains 6 LRR (leucine-rich) repeats.
  • Contains 1 LRRNT domain.
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
  • Contains 6 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with OPTC: view

No data available for Gene Families for OPTC Gene

Function for OPTC Gene

Molecular function for OPTC Gene

UniProtKB/Swiss-Prot Function:
Binds collagen fibrils.

Gene Ontology (GO) - Molecular Function for OPTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 10636917
genes like me logo Genes that share ontologies with OPTC: view
genes like me logo Genes that share phenotypes with OPTC: view

Animal Models for OPTC Gene

MGI Knock Outs for OPTC:

Animal Model Products

  • Taconic Biosciences Mouse Models for OPTC

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OPTC Gene

Localization for OPTC Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPTC Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for OPTC Gene COMPARTMENTS Subcellular localization image for OPTC gene
Compartment Confidence
extracellular 5
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for OPTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with OPTC: view

Pathways & Interactions for OPTC Gene

SuperPathways for OPTC Gene

No Data Available

Gene Ontology (GO) - Biological Process for OPTC Gene


No data available for Pathways by source and SIGNOR curated interactions for OPTC Gene

Drugs & Compounds for OPTC Gene

(1) Drugs for OPTC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with OPTC: view

Transcripts for OPTC Gene

mRNA/cDNA for OPTC Gene

Unigene Clusters for OPTC Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPTC Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP2: -

Relevant External Links for OPTC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OPTC Gene

mRNA expression in normal human tissues for OPTC Gene

mRNA differential expression in normal tissues according to GTEx for OPTC Gene

This gene is overexpressed in Testis (x7.1).

Protein differential expression in normal tissues from HIPED for OPTC Gene

This gene is overexpressed in Vitreous humor (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OPTC Gene

Protein tissue co-expression partners for OPTC Gene

NURSA nuclear receptor signaling pathways regulating expression of OPTC Gene:


SOURCE GeneReport for Unigene cluster for OPTC Gene:


mRNA Expression by UniProt/SwissProt for OPTC Gene:

Tissue specificity: Retina, iris, ligament, skin and fetal liver.
genes like me logo Genes that share expression patterns with OPTC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for OPTC Gene

Orthologs for OPTC Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPTC Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia OPTC 34
  • 80.02 (n)
  • 74.92 (a)
  • 74 (a)
(Canis familiaris)
Mammalia OPTC 34
  • 81.13 (n)
  • 78.46 (a)
  • 74 (a)
(Mus musculus)
Mammalia Optc 34
  • 77.18 (n)
  • 73.57 (a)
Optc 16
Optc 35
  • 60 (a)
(Pan troglodytes)
Mammalia OPTC 34
  • 97.57 (n)
  • 97.14 (a)
  • 96 (a)
(Rattus norvegicus)
Mammalia Optc 34
  • 76.87 (n)
  • 70.54 (a)
(Monodelphis domestica)
Mammalia OPTC 35
  • 53 (a)
(Gallus gallus)
Aves OPTC 34
  • 64.3 (n)
  • 56.45 (a)
  • 51 (a)
(Anolis carolinensis)
Reptilia OPTC 35
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia optc 34
  • 56.54 (n)
  • 51.31 (a)
(Danio rerio)
Actinopterygii optc 34
  • 57.16 (n)
  • 50 (a)
optc 35
  • 41 (a)
Species where no ortholog for OPTC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OPTC Gene

Gene Tree for OPTC (if available)
Gene Tree for OPTC (if available)

Paralogs for OPTC Gene

Paralogs for OPTC Gene

(2) SIMAP similar genes for OPTC Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with OPTC: view

Variants for OPTC Gene

Sequence variations from dbSNP and Humsavar for OPTC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs139024490 - 203,499,664(+) GAGGA(C/T)TGACC reference, missense
rs150633473 - 203,499,804(+) ATGTC(C/T)GCCTA reference, missense
rs56219555 - 203,503,694(+) TGCCT(C/T)GGCTC reference, missense
rs747672 -- 203,498,105(+) CTCAT(G/T)ACCCG intron-variant
rs747673 -- 203,498,295(+) TGGCA(C/G)AGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPTC Gene

Variant ID Type Subtype PubMed ID
esv1567874 CNV insertion 17803354
esv2762217 CNV gain 21179565
nsv1069209 CNV deletion 25765185
nsv952640 CNV deletion 24416366

Variation tolerance for OPTC Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.09; 75.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPTC Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPTC Gene

Disorders for OPTC Gene

MalaCards: The human disease database

(3) MalaCards diseases for OPTC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
posterior column ataxia
  • biemond ataxia
vitreous detachment
retinal vascular occlusion
  • retinal vasc. occlusion
- elite association - COSMIC cancer census association via MalaCards
Search OPTC in MalaCards View complete list of genes associated with diseases

Relevant External Links for OPTC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with OPTC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OPTC Gene

Publications for OPTC Gene

  1. Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix. (PMID: 10636917) Reardon A.J. … Bishop P.N. (J. Biol. Chem. 2000) 2 3 4 22 65
  2. An evaluation of OPTC and EPYC as candidate genes for high myopia. (PMID: 19844586) Wang P. … Zhang Q. (Mol. Vis. 2009) 3 22 46 65
  3. Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. (PMID: 17359525) Acharya M. … Ray K. (BMC Mol. Biol. 2007) 3 22 46 65
  4. Protein localization in the human eye and genetic screen of opticin. (PMID: 12019215) Friedman J.S. … Walter M.A. (Hum. Mol. Genet. 2002) 3 4 22 65
  5. Cloning, modeling, and chromosomal localization for a small leucine- rich repeat proteoglycan (SLRP) family member expressed in human eye. (PMID: 10837509) Hobby P. … Wistow G.J. (Mol. Vis. 2000) 3 4 22 65

Products for OPTC Gene

Sources for OPTC Gene

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