OPTC (opticin)

Gene

• Entrez ID: 26254
• Gene name: Opticin
• Gene symbol: OPTC
• Synonyms (NCBI Gene): OPT
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	TAS	10636917
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	ISS
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	18164633
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	10636917
GO:0060348	Process	Bone development	IBA
GO:0061975	Process	Articular cartilage development	IBA

Other IDs

• MIM: 605127
• HGNC: 8158
• e!Ensembl: ENSG00000188770

Protein

• UniProt ID: Q9UBM4
• Protein name: Opticin (Oculoglycan)
• Protein function: Inhibits angiogenesis in the vitreous humor of the eye, and therefore represses neovascularization (By similarity). Binds collagen fibrils (By similarity). May be involved in collagen fiber organization via regulation of other members of the sma
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	153 → 213	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in cartilage and synovial membranes (at protein level) (PubMed:18164633, PubMed:23845380). Expressed in the retina, iris, ligament, skin and fetal liver (at protein level) (PubMed:12019215, PubMed:25136834). Expressed in the
• Sequence:

  MRLLAFLSLLALVLQETGTASLPRKERKRREEQMPREGDSFEVLPLRNDVLNPDNYGEVI
  DLSNYEELTDYGDQLPEVKVTSLAPATSISPAKSTTAPGTPSSNPTMTRPTTAGLLLSSQ
  PNHGLPTCLVCVCLGSSVYCDDIDLEDIPPLPRRTAYLYARFNRISRIRAEDFKGLTKLK
  RIDLSNNLISSIDNDAFRLLHALQDLILPENQLEALPVLPSGIEFLDVRLNRLQSSGIQP
  AAFRAMEKLQFLYLSDNLLDSIPGPLPLSLRSVHLQNNLIETMQRDVFCDPEEHKHTRRQ
  LEDIRLDGNPINLSLFPSAYFCLPRLPIGRFT

• Sequence length: 332

Pathways

Reactome:

Degradation of the extracellular matrix

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTC-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	12019215		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	18164633	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31320354		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18164633, 29323130		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	17563717		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	17563717, 38241218	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	17359525, 17563717	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	LHGDN	17359525		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	12019215, 17359525, 17563717		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31320354		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33811221	Inhibit	★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	12019215		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19844586	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20457870		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18164633	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27538247		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	33811221	Inhibit	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	17117407, 19844586		★☆☆☆☆ Found in Text Mining only