1. Gene
  2. ACAN - aggrecan Gene

ACAN - aggrecan Gene

Homo sapiens

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

Gene ID: 176 | Gene type: protein coding

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

V-set: Immunoglobulin V-set domain (33 - 141)

Xlink

Xlink: Extracellular link domain (152 - 247)

Xlink

Xlink: Extracellular link domain (253 - 349)

Xlink

Xlink: Extracellular link domain (477 - 572)

Xlink

Xlink: Extracellular link domain (578 - 674)

EGF

EGF: EGF-like domain (2283 - 2312)

Lectin_C

Lectin_C: Lectin C-type domain (2338 - 2442)

Sushi

Sushi: Sushi repeat (SCR repeat) (2447 - 2503)

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  • 2400
  • 2530 a.a.
Protein Preferred Names Protein Names

aggrecan core protein

cartilage-specific proteoglycan core protein

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

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