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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 Open-Angle Glaucoma. Among its related pathways are Degradation of the extracellular matrix. 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 CIViC summary , 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
GH01G203647 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +158.9 158910 10.6 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF2 ZBTB7B YY1 ZNF766 MDM4 ATP2B4 SNRPE ZBED6 SNORA77 OPTC PPP1R15B LOC100131747 FMOD LOC730222
GH01G203519 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +26.7 26740 3.7 ATF1 PKNOX1 TCF12 GLIS2 ZNF366 ZNF207 FOS CREM EGR2 JUNB OPTC PRELP ATP2B4 FMOD LOC100131747 BTG2 SNRPE PPFIA4 GC01M203457 GC01P203608
GH01G203533 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +42.2 42181 5.6 PKNOX1 FOXA2 SIN3A BRCA1 ZBTB7B YY1 ELK1 ZNF143 FOS DEK ATP2B4 OPTC PRELP LOC100131747 FMOD GC01M203457 GC01P203608
GH01G203272 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -219.8 -219765 3.6 HDGF FOXA2 CREB3L1 ARNT WRNIP1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 BTG2 LINC01136 RNU6-487P FMOD LOC100131747 OPTC PRELP CHIT1 LINC01353
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Suggested Antigen Peptide Sequences for OPTC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
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

Inhibitory RNA Products

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPTC gene
Compartment Confidence
extracellular 5
lysosome 1

Gene Ontology (GO) - Cellular Components for OPTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA,TAS --
genes like me logo Genes that share ontologies with OPTC: view

Pathways & Interactions for OPTC Gene

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

Pathways by source for OPTC Gene

Gene Ontology (GO) - Biological Process for OPTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with OPTC: view

No data available for 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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for OPTC Gene

  • Eye(4.8)
  • Bone marrow(4.1)
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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia OPTC 34 35
  • 97.57 (n)
(Canis familiaris)
Mammalia OPTC 35 34
  • 81.13 (n)
(Bos Taurus)
Mammalia OPTC 35 34
  • 80.02 (n)
(Mus musculus)
Mammalia Optc 34 16 35
  • 77.18 (n)
(Rattus norvegicus)
Mammalia Optc 34
  • 76.87 (n)
(Monodelphis domestica)
Mammalia OPTC 35
  • 53 (a)
(Gallus gallus)
Aves OPTC 34 35
  • 64.3 (n)
(Anolis carolinensis)
Reptilia OPTC 35
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia optc 34
  • 56.54 (n)
(Danio rerio)
Actinopterygii optc 34 35
  • 57.16 (n)
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
rs1000191026 -- 203,508,414(+) CTTGG(A/G)GCTCA intron-variant
rs1000428075 -- 203,505,949(+) CTCTC(-/AG)AGTGT intron-variant
rs1000600219 -- 203,506,402(+) CGCCT(C/T)GGCCT intron-variant
rs1000646284 -- 203,499,957(+) CCACC(C/T)CCACC intron-variant
rs1000793272 -- 203,507,078(+) CTCTG(C/T)ACCAG 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

(4) MalaCards diseases for OPTC Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
posterior column ataxia
  • biemond ataxia
open-angle glaucoma
  • glaucoma simplex
vitreous detachment
  • posterior vitreous detachment
retinitis pigmentosa-12, autosomal recessive
  • retinitis pigmentosa 12
- 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 64
  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 64
  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 64
  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 64
  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 64

Products for OPTC Gene

Sources for OPTC Gene

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