COL1A2 - collagen type I alpha 2 chain Gene

Also Known as OI4; EDSCV; EDSARTH2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1278

About COL1A2

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:94,394,895-94,431,227 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues, 37 paralogues and is associated with 18 phenotypes. Broad expression in gall bladder (RPKM 891.0), urinary bladder (RPKM 521.6) and 14 other tissues.

Summary

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]

COL1A2 Products (1)

mRNA	Protein	Name
NM_000089.4	NP_000080.2	collagen alpha-2(I) chain precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables identical protein binding	IDA IDA: Inferred from direct assay	17211858	GOA
enables platelet-derived growth factor binding	IDA IDA: Inferred from direct assay	8900172	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	19932771	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18375391	GOA
enables protein-macromolecule adaptor activity	IMP IMP: Inferred from mutant phenotype	18375391	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in Rho protein signal transduction	IDA IDA: Inferred from direct assay	17217948	GOA
involved in blood vessel development	IMP IMP: Inferred from mutant phenotype	17211858	GOA
involved in collagen fibril organization	IMP IMP: Inferred from mutant phenotype	17211858	GOA
involved in regulation of blood pressure	IMP IMP: Inferred from mutant phenotype	17334644	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	8841196	GOA
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	17211858	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	17217948	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of collagen type I trimer	IDA IDA: Inferred from direct assay	18375391	GOA
part of collagen type I trimer	IMP IMP: Inferred from mutant phenotype	17955022	GOA
part of collagen type I trimer	IPI IPI: Inferred from physical interaction	26848503	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	18375391	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL1A2 Protein Structure

Collagen

COLFI

0
300
600
900
1200
1366 a.a.

Protein Preferred Names	Protein Names
collagen alpha-2(I) chain	alpha 2 type I procollagen

COL1A2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0-2	Y2H Prey Pooling	26871637
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0-2	Validated Y2H	25416956
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0-2	Validated Y2H	26871637
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0-2	Y2H Array	26871637
Intra	COL1A2	P08123	KCNIP4	Homo sapiens	Q6PIL6	Y2H Prey Pooling	32296183
Intra	COL1A2	P08123	KCNIP4	Homo sapiens	Q6PIL6	Validated Y2H	26871637
Intra	COL1A2	P08123	KCNIP4	Homo sapiens	Q6PIL6	Validated Y2H	32296183
Intra	COL1A2	P08123	KCNIP4	Homo sapiens	Q6PIL6	Y2H Array	26871637
Intra	COL1A2	P08123	KCNIP4	Homo sapiens	Q6PIL6	Y2H Array	32296183
Intra	COL1A2	P08123	KCNIP4	Homo sapiens	Q6PIL6	Y2H Prey Pooling	26871637
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	25416956
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	26871637
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Validated Y2H	25416956
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	32296183
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Validated Y2H	26871637
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Y2H Array	25416956
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Y2H Array	26871637
Intra	COL1A2	P08123	SGTA	Homo sapiens	O43765	Y2H Array	32296183
Intra	COL1A2	P08123	SMARCD1	Homo sapiens	Q96GM5	Validated Y2H	32296183
Intra	COL1A2	P08123	MESD	Homo sapiens	Q14696	Validated Y2H	32296183
Intra	COL1A2	P08123	MESD	Homo sapiens	Q14696	Y2H Array	32296183
Intra	COL1A2	P08123	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	32296183
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	25416956
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	COL1A2	P08123	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32296183
Intra	COL1A2	P08123	SGTB	Homo sapiens	Q96EQ0	Validated Y2H	26871637
Intra	COL1A2	P08123	SGTB	Homo sapiens	Q96EQ0	Y2H Array	26871637
Intra	COL1A2	P08123	SGTB	Homo sapiens	Q96EQ0	Y2H Prey Pooling	26871637
Intra	COL1A2	P08123	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	COL1A2	P08123	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
Intra	COL1A2	P08123	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

COL1A2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P80627	Collagen I alpha 2 Antibody	WB, IHC-F, IHC-P, ICC/IF, ELISA	Human, Mouse, Rat
HY-P83998	Collagen I alpha 2 Antibody (YA3695)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P83998A	Collagen I alpha 2 Antibody (YA3695)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P85777	Collagen I Antibody (YA5469)	ICC/IF, IHC-P	Human, Mouse, Rat

関連疾患

Diseases	Alias
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Ehlers-Danlos Syndrome, Cardiac Valvular Type	EDSCV Cardiac-Valvular Ehlers-Danlos Syndrome Cardiac-Valvular Eds Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form Cveds Ehlers-Danlos Syndrome Cardiac Valvular Type Eds, Cardiac Valvular Type
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	OIEDS2 Oieds Syndrome 2
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Eds Viib EDSARTH2 Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant Eds7b Ehlers-Danlos Syndrome Arthrochalasia Type 2 Ehlers-Danlos Syndrome Type 7b Ehlers-Danlos Syndrome 7b Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos/Osteogenesis Imperfecta Syndrome	Eds/Oi Syndrome
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Arthrochalasis Multiplex Congenita Eds7a Ehlers-Danlos Syndrome Type 7a Ehlers-Danlos Syndrome, Arthrochalasia Type EDSARTH1 Eds Viia Eds Vii, Mutant Procollagen Type Arthrochalasia Ehlers-Danlos Syndrome Arthrochalasia Eds Aeds Ehlers-Danlos Syndrome, Type Viia Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant Ehlers-Danlos Syndrome Arthrochalasia Type 1 Eds Vii Ehlers-Danlos Syndrome Type 7 Eds Vii Mutant Procollagen Type Ehlers-Danlos Syndrome 7a Ehlers-Danlos Syndrome Arthrochalasic Type Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant Eds Viib
Classic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Classic Type Classical Ehlers-Danlos Syndrome Eds, Classic Type Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome Type 2 Classical Eds Ceds Ehlers-Danlos Syndrome, Type 2
High Bone Mass Osteogenesis Imperfecta	High Bone Mass Oi
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Otosclerosis	Otospongiosis
X-Linked Alport Syndrome	Nephropathy And Deafness, X-Linked
Idiopathic Scoliosis	Scoliosis Idiopathic
Bone Development Disease
Scoliosis
Chiari Malformation
Scirrhous Adenocarcinoma	Adenocarcinoma, Scirrhous Adenocarcinoma With Productive Fibrosis
Spinal Stenosis	Lumbar Spinal Stenosis Cervical Spinal Stenosis Spinal Stenosis Of Lumbar Region Spinal Stenosis In Cervical Region Spinal Canal Stenosis
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Oral Submucous Fibrosis	Oral Submucosal Fibrosis, Including Of Tongue Osmf Oral Cavity Submucous Fibrosis Oral Submucosal Fibrosis Submucosal Fibrosis
Pelvic Organ Prolapse	Rectal Prolapse Pelvic Organ Prolapse, Susceptibility To, 1 Pelvic Organ Prolapse, Susceptibility To Prolapse Of Vagina And Rectum Vaginal Prolapse Pelvic Organ Prolapse 1 Procidentia, Rectum Prolapse Of Rectal Mucosa Procidentia Of Rectum Rectal Mucosa Prolapse Rectum Prolapse Procidentia Rectum Rp - [Rectal Prolapse] Male Proctocele Male Rectocele Proctoptosis Female Genital Prolapse Female Prolapse Incompetence Of Pelvic Fundus Relaxation Of Perineum Deficiency Of Perineum
Breast Scirrhous Carcinoma	Infiltrating Carcinoma Of Breast With Fibrotic Stroma Scirrhous Carcinoma Of Breast
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Systemic Scleroderma	Scleroderma Progressive Systemic Sclerosis Systemic Sclerosis Scleroderma, Systemic Scleroderma Syndrome Dermatosclerosis Familial Progressive Scleroderma Progressive Scleroderma Scleroderma Disease Scleroderma, Localized Diffuse Scleroderma Scleroderma, Familial Progressive
Scleroderma, Familial Progressive	Systemic Sclerosis Systemic Scleroderma Systemic Sclerosis, Susceptibility To Sclerosis Systemic Crest Syndrome Progressive Scleroderma
Osteogenesis Imperfecta, Type Xiv	Osteogenesis Imperfecta Type 14 OI14 Osteogenesis Imperfecta Type Xiv Oi, Type Xiv Osteogenesis Imperfecta 14 Oi Type Xiv Oi-Xiv
Pulmonary Fibrosis	Fibrosis Of Lung
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Fibrogenesis Imperfecta Ossium	Baker'S Disease
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Osteogenesis Imperfecta, Type V	Osteogenesis Imperfecta Type 5 OI5 Osteogenesis Imperfecta Type V Oi Type 5 Oi Type V Oi, Type V Oi With Calcification In Interosseous Membranes Type V Oi Osteogenesis Imperfecta 5 Oi-V
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Osteogenesis Imperfecta, Type Vi	OI6 Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type Vi Oi Type Vi Oi Type 6 Osteogenesis Imperfecta Type Serpinfi- Related Osteogenesis Imperfecta Osteogenesis Imperfecta 6 Oi-Vi
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Collagen Disease	Collagen Diseases Collagen Disorder
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Localized Scleroderma	Morphea Localised Scleroderma Localized Fibrosing Scleroderma Circumscribed Scleroderma Localised Morphea Localised Morphoea Localized Morphea Scleroderma, Circumscribed Or Localised Scleroderma, Circumscribed Or Localized Scleroderma, Localized
Dentin Dysplasia	Dentinal Dysplasia Dd Dysplasia, Dentin Shell Teeth
Dental Fluorosis	Mottled Teeth Intrinsic Enamel Discolouration Of Fluorosis Mottling Of Enamel Fluorosis, Dental Dental Fluorosis, Acquired
Hypophosphatasia, Adult	Adult Hypophosphatasia Odontohypophosphatasia Hypophosphatasia, Mild HPPA Hypophosphatasia Mild Hypophosphatasia Adult Rathbun Disease Adult Phosphoethanolaminuria HOPS
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Hypermobility Syndrome	Benign Joint Hypermobility
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Beach Ear	Acute Swimmer'S Ear Acute Bacterial Inflammation Of External Ear Acute Otitis Externa, Diffuse Acute Swimmers' Ear Tank Ear
Bone Structure Disease
Amebiasis	Amoebiasis Entamoebiasis Chronic Intestinal Amebiasis Amoebiasis, Unspecified Amebic Colitis Amoebic Enteritis Infection Due To Entamoeba Histolytica Amoebic Infection Disease Due To Endamoebidae Amoebiasis Nos
Achondrogenesis	Achondrogenesis Syndrome
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Bone Remodeling Disease
Bone Resorption Disease	Bone Resorption
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Limited Scleroderma	Limited Cutaneous Systemic Sclerosis Limited Systemic Sclerosis Systemic Sclerosis Sine Scleroderma Crest Syndrome Limited Cutaneous Systemic Scleroderma Scleroderma, Limited Systemic Sclerosis, Limited Progressive Systemic Sclerosis Sine Scleroderma Scleroderma, Sine Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-179410	Galectin-3-IN-7	Inhibitor	/	Unkown
HY-RS02971	COL1A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20147	Col1a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26651	Col1a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	COL1A2	VGNC	VGNC:39465
Bos taurus	COL1A2	VGNC	VGNC:27561
Felis catus	COL1A2	VGNC	VGNC:78411
Mus musculus	COL1A2	MGD	MGI:88468
Rattus norvegicus	COL1A2	RGD	RGD:621351
Macaca mulatta	COL1A2	VGNC	VGNC:81292
Others	COL1A2	NCBI