Tbio COL1A2 Collagen alpha-2(I) chain

Protein Summary

Description

Type I collagen is a member of group I collagen (fibrillar forming collagen). This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Uniprot Accession IDs

• P08123
• P02464
• Q13897
• Q13997
• Q13998
• Q14038
• Q14057
• Q15177
• Q15947
• Q16480
• Q16511
• Q7Z5S6
• Q9UEB6
• Q9UEF9
• Q9UM83
• Q9UMI1
• Q9UML5
• Q9UMM6
• Q9UPH0

Gene Name

• COL1A2

Ensembl ID

• ENST00000297268
• ENSP00000297268
• ENSG00000164692

Symbol

• OI4
• EDSCV
• EDSARTH2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.99
biological term	0.93
disease perturbation	0.93
disease	0.91
kinase perturbation	0.88

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

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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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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: 1890.61   (req: < 5)

Gene RIFs: 167   (req: <= 3)

Antibodies: 368   (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: 1890.61   (req: >= 5)

Gene RIFs: 167   (req: > 3)

Antibodies: 368   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24

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

GWAS Traits (1)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
appendicular lean mass	EFO_0004980	2	1	2		77.2

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
appendicular lean mass	EFO_0004980	2		77.2

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Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	collagen type I alpha 2 chain	VGNC:10658	455117
Mouse	collagen, type I, alpha 2	MGI:88468	12843
Rat	collagen type I alpha 2 chain	RGD:621351	84352
Dog	collagen type I alpha 2 chain	VGNC:39465	403824
Horse	collagen type I alpha 2 chain	VGNC:16731	100051715

Species	Name	OMA	EggNOG	Inparanoid
Chimp	collagen type I alpha 2 chain
Mouse	collagen, type I, alpha 2
Rat	collagen type I alpha 2 chain
Dog	collagen type I alpha 2 chain
Horse	collagen type I alpha 2 chain

Protein Data Bank (3)

1 – 3 of 3

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (42)

Reactome (12)

KEGG (10)

PathwayCommons (14)

WikiPathways (6)

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	Binding and Uptake of Ligands by Scavenger Receptors	116 targets	R-HSA-2173782
Reactome	Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Reactome	Collagen chain trimerization	44 targets	R-HSA-8948216
Reactome	Collagen formation	90 targets	R-HSA-1474290

Name	Explore in Pharos	Explore in Source
Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Binding and Uptake of Ligands by Scavenger Receptors	116 targets	R-HSA-2173782
Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Collagen chain trimerization	44 targets	R-HSA-8948216
Collagen formation	90 targets	R-HSA-1474290

Gene Ontology Terms (32)

Functions (8)

Components (8)

Processes (16)

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10

1 – 8 of 8

GO Term	Evidence	Assigned by
identical protein binding	Inferred from Direct Assay (IDA)	UniProtKB
platelet-derived growth factor binding	Inferred from Direct Assay (IDA)	MGI
protease binding	Inferred from Physical Interaction (IPI)	CAFA
protein binding, bridging	Inferred from Mutant Phenotype (IMP)	UniProtKB
extracellular matrix structural constituent conferring tensile strength	Inferred from High Throughput Direct Assay (HDA)	BHF-UCL
extracellular matrix structural constituent	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
SMAD binding	Inferred from Electronic Annotation (IEA)	Ensembl

Protein-Protein Interactions (256)

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1 – 10 of 256

• See Interactions on String-DB

ERAL1

Tbio

Family: Enzyme

Novelty: 0.01695998

p_int: 0.99999197

p_ni: 4.06e-7

p_wrong: 0.000007624

Score: 0.309

Data Source: BioPlex,STRINGDB

CAMKMT

Tbio

Family: Enzyme

Novelty: 0.00382649

p_int: 0.999966698

p_ni: 3.37e-7

p_wrong: 0.000032965

Score: 0.309

Data Source: BioPlex,STRINGDB

YAF2

Tbio

Novelty: 0.10772286

p_int: 0.785516837

p_ni: 0.000073813

p_wrong: 0.21440935

Score: 0.181

Data Source: BioPlex,STRINGDB

TIMM44

Tbio

Family: Enzyme

Novelty: 0.020862

p_int: 0.761560642

p_ni: 0.000018537

p_wrong: 0.238420821

Score: 0.379

Data Source: BioPlex,STRINGDB

COL1A1

Tbio

Novelty: 0.00063584

Score: 0.999

Data Source: Reactome,STRINGDB

COL5A2

Tbio

Novelty: 0.01352973

Score: 0.996

Data Source: STRINGDB

COL3A1

Tbio

Novelty: 0.00197327

Score: 0.995

Data Source: STRINGDB

LUM

Tbio

Novelty: 0.00219939

Score: 0.995

Data Source: STRINGDB

SPARC

Tbio

Novelty: 0.00063267

Score: 0.992

Data Source: STRINGDB

COL6A1

Tbio

Novelty: 0.00644855

Score: 0.989

Data Source: STRINGDB

Publication Statistics

PubMed Score  1890.61

PubMed score by year

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PubTator Score  1270.01

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Calcium
Chromosomal rearrangement
Collagen
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Dwarfism
Ehlers-Danlos syndrome

GWAS Trait Find Similar Targets

appendicular lean mass

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
integument phenotype
limbs/digits/tail phenotype
mortality/aging
muscle phenotype
skeleton phenotype