ACAN - aggrecan Gene

Also Known as AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP; SSOAOD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 176

About ACAN

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:88,803,436-88,875,353 (from NCBI)

This gene has 8 transcripts (splice variants), 309 orthologues, 7 paralogues and is associated with 9 phenotypes. Broad expression in testis (RPKM 1.8), urinary bladder (RPKM 1.4) and 17 other tissues.

Summary

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

ACAN Products (5)

mRNA	Protein	Name
NM_001135.4	NP_001126.3	aggrecan core protein isoform 1 precursor
NM_001369268.1	NP_001356197.1	aggrecan core protein isoform 3 precursor
NM_001411096.1	NP_001398025.1	aggrecan core protein isoform 4 precursor
NM_001411097.1	NP_001398026.1	aggrecan core protein isoform 5 precursor
NM_013227.4	NP_037359.3	aggrecan core protein isoform 2 precursor

ACAN Protein Structure

V-set

Xlink

EGF

Lectin_C

Sushi

0
400
800
1200
1600
2000
2400
2530 a.a.

Protein Preferred Names	Protein Names
aggrecan core protein	cartilage-specific proteoglycan core protein

ACAN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81088	ACAN Antibody	IHC-P	Human

Related Diseases

Diseases	Alias
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis Familial Osteochondritis Dissecans SSOAOD Od Focd Ocd Osteochondritis Dissecans And Short Stature Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome Short Stature And Advanced Bone Age, With Early-Onset Osteoarthritis
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Semd, Aggrecan Type SEMDAG Semd Aggrecan Type Dysplasia, Spondyloepimetaphyseal, Aggrecan Type
Spondyloepiphyseal Dysplasia, Kimberley Type	SEDK Spondyloepiphyseal Dysplasia Kimberley Type Spondyloepiphyseal Dysplasia Type Kimberley Dysplasia, Spondyloepiphyseal, Kimberley Type
Osteochondritis Dissecans	Osteochondritis Ocd Konig Disease
Osteoarthritis	Osteoarthrosis Degenerative Joint Disease Hypertrophic Arthritis Arthropathy Degenerative Polyarthritis Degenerative Arthritis Osteoarthrosis And Allied Disorder Arthritis, Degenerative Oa Osteoarthritis Deformans Osteoarthrosis Deformans Kashin-Beck Disease
Spinal Stenosis	Lumbar Spinal Stenosis Cervical Spinal Stenosis Spinal Stenosis Of Lumbar Region Spinal Stenosis In Cervical Region Spinal Canal Stenosis
Bone Deterioration Disease
Bone Structure Disease
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Cartilage Disease	Cartilage Diseases Cartilage Cartilage Disorder Chondropathy Cartilage Disorders
Synovitis
Hypochondrogenesis	Achondrogenesis Type Ii/Hypochondrogenesis
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Osteochondrosis	Osteochondritis Apophysitis Epiphysitis Osteochondritis Juvenilis Epiphyseal Necrosis Juvenile Osteochondrosis Of Tibial Tubercle
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Discitis
Degenerative Disc Disease	Intervertebral Disc Degeneration Cervical Disc Degenerative Disorder Cervical Disc Degenerative Disease Lumbar Disc Degeneration Vertebral Disc Disease Degeneration Of Lumbar Intervertebral Disc Intervertebral Disc Disorder Discogenic Disease
Carpal Tunnel Syndrome	Cts Carpal Tunnel Syndrome, Familial Carpal Tunnel Syndrome 1 CTS1 Amyotrophy, Thenar, Of Carpal Origin Carpal Tunnel Median Neuropathy Cts - Carpal Tunnel Syndrome Median Nerve Entrapment Carpal Canal Carpal Tunnel Compression Neuropathy, Carpal Tunnel Distal Median Nerve Compression Distal Median Nerve Entrapment Entrapment Neuropathy, Carpal Tunnel Median Neuropathy, Carpal Tunnel Median Neuropathy Carpal Tunnel Thenar Amyotrophy Of Crapal Origin
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Spondylolysis	Acquired Spondylolysis
Spondylolisthesis	Slipped Vertebrae Acquired Spondylolisthesis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Brachydactyly
Spondylosis	Lumbar Spondylosis With Myelopathy Lumbosacral Spondylosis Without Myelopathy Spondylogenic Compression Of Lumbar Spinal Cord Spondylogenic Compression Of Thoracic Spinal Cord Spondylosis With Myelopathy Thoracic Or Lumbar Spondylosis With Myelopathy
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
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
Bone Inflammation Disease	Osteitis Bone Inflammatory Disease Inflammatory Disorder Of Bone
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Scoliosis
Achondrogenesis, Type Ii	Achondrogenesis Type Ii ACG2 Achondrogenesis, Langer-Saldino Type Achondrogenesis Type 2 Chondrogenesis Imperfecta Achondrogenesis, Type Ib, Formerly Achondrogenesis, Type Ii Or Hypochondrogenesis Achondrogenesis 2 Acg-Ii Achondrogenesis-Hypochondrogenesis Type Ii Achondrogenesis Langer-Saldino Type Achondrogenesis-Hypochondrogenesis, Type Ii Hypochondrogenesis
Achondrogenesis	Achondrogenesis Syndrome
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal Anadysplasia 1 Semd, Missouri Type Spondyloepimetaphyseal Dysplasia Type 2 SEMDM Spondyloepimetaphyseal Dysplasia Missouri Type Missouri Type Of Spondyloepimetaphyseal Dysplasia Semd Missouri Type Semd Type 2 MANDP1 Semd-Mo Spondyloepimetaphyseal Dysplasia Type Missouri Spondylometaepiphyseal Dysplasia Type Missouri Anadysplasia, Metaphyseal, Type 1
Chondromalacia	Chondromalacia, Unspecified Site Chondromalacia Nos
Septic Arthritis	Infectious Arthritis Arthritis, Infectious Arthritis Septic Arthritis, Bacterial
Tendinitis	Tendinopathy
Hypochondroplasia	HCH Hypochondrodysplasia Chondrogenesis Imperfecta Hypochondroplastic Dwarfism Hypochondroplastic Short Stature
Ischemic Bone Disease
Bone Development Disease
Epicondylitis	Tennis Elbow Lateral Epicondylitis Golfer'S Elbow Medial Epicondylitis Andrel Epicondylitis Archer'S Elbow Hockey Elbow Shooter'S Elbow
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Chondroblastic Osteosarcoma	Chondrosarcomatous Osteogenic Sarcoma
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Metatropic Dysplasia	Metatropic Dwarfism MTD Metatropic Dysplasia Type 1 Metatropic Dysplasia, Nonlethal Dominant
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia-1 Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
Radiculopathy	Pinched Nerve Nerve Root Disorder Radiculopathy, Site Unspecified Radicular Neuropathy Radicular Syndrome Radicular Pain Radiculitis Radiculitis Nos Spinal Root Pain Nerve Root Neuritis Radiculopathy In Spondylosis
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Spondyloarthropathy	Spondylarthropathies Spondarthropathy Spondylarthrosis Spondyloarthropathy, Susceptibility To Spondylarthritis
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Leri-Weill Dyschondrosteosis	LWD Dyschondrosteosis Dco Léri-Weill Dyschondrosteosis Leri Weill Dyschondrosteosis Leri-Weill Syndrome Leri-Weil Syndrome Dyschondrosteosis, Leri-Weill
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
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
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
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
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19820A	NSC45586 sodium		98.0%	Unkown
HY-165607S	MCB-22-174		99.78%	Unkown
HY-RS00132	ACAN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17876	Acan Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24345	Acan Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACAN	RGD	RGD:68358
Mus musculus	ACAN	MGD	MGI:99602
Macaca mulatta	ACAN	VGNC	VGNC:69556
Felis catus	ACAN	VGNC	VGNC:80775
Canis familiaris	ACAN	VGNC	VGNC:37495
Bos taurus	ACAN	VGNC	VGNC:25525
Others	ACAN	NCBI