Tbio COL9A3 Collagen alpha-3(IX) chain

Protein Summary

Description

Structural component of hyaline cartilage and vitreous of the eye. This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]

Uniprot Accession IDs

• Q14050
• Q13681
• Q9H4G9
• Q9UPE2

Gene Name

• COL9A3

Ensembl ID

• ENST00000343916
• ENSP00000341640
• ENSG00000092758
• ENST00000649368
• ENSP00000496793

Symbol

• IDD
• MED
• EDM3
• DJ885L7.4.1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.87
PubMedID	0.73
cell type or tissue	0.65
tissue sample	0.61
small molecule perturbation	0.6

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 41.86   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 164   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 41.86   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 164   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (112)

Explore Interacting Targets

1 – 10 of 112

• See Interactions on String-DB

COL9A2

Tbio

Novelty:  0.01711515

Score:  0.997

Data Source:  Reactome,STRINGDB

COL9A1

Tbio

Novelty:  0.0160066

Score:  0.995

Data Source:  Reactome,STRINGDB

COL2A1

Tbio

Novelty:  0.0011102

Score:  0.969

Data Source:  STRINGDB

COL11A1

Tbio

Novelty:  0.00594683

Score:  0.937

Data Source:  STRINGDB

COL11A2

Tbio

Novelty:  0.00923441

Score:  0.932

Data Source:  STRINGDB

MMP3

Tchem

Novelty:  0.00041675

Score:  0.928

Data Source:  STRINGDB

BGN

Tbio

Novelty:  0.00139486

Score:  0.925

Data Source:  STRINGDB

COL5A1

Tbio

Novelty:  0.00506815

Score:  0.925

Data Source:  STRINGDB

P4HA3

Tbio

Family:  Enzyme

Novelty:  0.03832564

Score:  0.924

Data Source:  STRINGDB

COL10A1

Tbio

Novelty:  0.00521991

Score:  0.923

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (25)

Reactome (16)

KEGG (5)

PathwayCommons (2)

WikiPathways (2)

Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Reactome	Axon guidance	533 targets	R-HSA-422475
Reactome	Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Reactome	Collagen chain trimerization	44 targets	R-HSA-8948216
Reactome	Collagen degradation	40 targets	R-HSA-1442490

Name	Explore in Pharos	Explore in Source
Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Axon guidance	533 targets	R-HSA-422475
Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Collagen chain trimerization	44 targets	R-HSA-8948216
Collagen degradation	40 targets	R-HSA-1442490

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (10)

Functions (2)

Components (5)

Processes (3)

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1 – 2 of 2

GO Term	Evidence	Assigned by
extracellular matrix structural constituent	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
extracellular matrix structural constituent conferring tensile strength	Inferred by Curator (IC)	BHF-UCL

Disease Associations (null)

No disease associations found

GWAS Traits (6)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 6

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
age at menopause	EFO_0004704	1	1	1		53.7
monocyte count	EFO_0005091	2	2	2		50.8
BMI-adjusted waist circumference	EFO_0007789	2	1	2		49.5
diastolic blood pressure	EFO_0006336	1	1	1		30.2
creatinine measurement	EFO_0004518	1	1	1		23.7

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
age at menopause	EFO_0004704	1		53.7
monocyte count	EFO_0005091	2		50.8
BMI-adjusted waist circumference	EFO_0007789	2		49.5
diastolic blood pressure	EFO_0006336	1		30.2
creatinine measurement	EFO_0004518	1		23.7

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Collagen
Complete proteome
Disease mutation
Dwarfism
Extracellular matrix
Glycoprotein
Hydroxylation
Polymorphism
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
age at menopause
appendicular lean mass
BMI-adjusted waist circumference
creatinine measurement
diastolic blood pressure
monocyte count

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	collagen type IX alpha 3 chain	VGNC:13837	745218
Mouse	collagen, type IX, alpha 3	MGI:894686	12841
Rat	collagen type IX alpha 3 chain	RGD:1310255	362285
Dog	collagen type IX alpha 3 chain	VGNC:39487	612430
Horse	collagen type IX alpha 3 chain	VGNC:16753	100058660

Species	Name	OMA	EggNOG	Inparanoid
Chimp	collagen type IX alpha 3 chain
Mouse	collagen, type IX, alpha 3
Rat	collagen type IX alpha 3 chain
Dog	collagen type IX alpha 3 chain
Horse	collagen type IX alpha 3 chain

Publication Statistics

PubMed Score 41.86

PubMed score by year

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PubTator Score 45.47

PubTator score by year

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Related Publications

Text Mined References (44)

GeneRif Annotations (17)

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PMID	Year	Title