GDF5 - growth differentiation factor 5 Gene

Homo sapiens

Also known as OS5; LAP4; BDA1C; BMP14; CDMP1; LAP-4; SYM1B; SYNS2; BMP-14; DUPANS

Gene ID: 8200 | Gene type: protein coding

About GDF5

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,433,347-35,454,749 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues, 31 paralogues and is associated with 20 phenotypes. Biased expression in salivary gland (RPKM 2.0), fat (RPKM 0.7) and 7 other tissues.

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

GDF5 Products(2)

mRNA	Protein	Name
NM_000557.5	NP_000548.2	growth/differentiation factor 5 preproprotein
NM_001319138.2	NP_001306067.1	growth/differentiation factor 5 preproprotein

GDF5 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
400
501 a.a.

Protein Preferred Names

Protein Names

growth/differentiation factor 5

LPS-associated protein 4

Recombinant GDF5 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72633	GDF-5 Protein, Human	P43026 (A382-R501)	≥95%
HY-P700023AF	Animal-Free GDF-5 Protein, Human (His)	P43026 (A382-R501)	≥95%

Related Diseases

Diseases

Alias

Brachydactyly, Type C

Brachydactyly Type C	BDC
Brachydactyly Haws Type	Brachydactyly, Haws Type
Brachydactyly C

Brachydactyly, Type A2

Brachydactyly Type A2	BDA2
Mohr-Wriedt Type Brachydactyly	Brachymesophalangy Ii
Brachymesophalangy Type 2	Brachymesophalangy 2
Brachydactyly, Mohr-Wriedt Type	Brachydactyly A2

Acromesomelic Dysplasia 2a

Chondrodysplasia, Grebe Type	Acromesomelic Dysplasia, Grebe Type
Grebe Chondrodysplasia	Amdg
Grebe Syndrome	AMD2A
Grebe Dysplasia	Achondrogenesis, Brazilian
Achondrogenesis, Type Ii, Formerly	Acromesomelic Dysplasia-2a
Achondrogenesis Type Ii	Brazilian Achondrogenesis
Acromesomelic Chondrodysplasia, Grebe Type

Acromesomelic Dysplasia 2b

Fibular Hypoplasia And Complex Brachydactyly	Du Pan Syndrome
AMD2B	Dupans
Acromesomelic Dysplasia-2b	Fibular Aplasia-Complex Brachydactyly Syndrome

Acromesomelic Dysplasia 2c

Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelic Dysplasia 2c, Hunter-Thompson Type
AMD2C	Acromesomelic Dwarfism
Amdh Acromesomelic Dwarfism	Acromesomelic Dysplasia-2c
Acromesomelic Dysplasia Hunter Thompson Type	Acromesomelic Chondrodysplasia, Hunter-Thompson Type
Amdh	Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson
Acromesomelic Dysplasia Hunter-Thompson Type

Symphalangism, Proximal, 1b

SYM1B

Symphalangism, Proximal 1b

Multiple Synostoses Syndrome 2

SYNS2

Brachydactyly, Type A1, C

Brachydactyly Type A1c	BDA1C
Brachydactyly A1, C	Brachydactyly A1c
Brachydactyly Type A1 C

Angel-Shaped Phalangoepiphyseal Dysplasia

ASPED	Angel-Shaped Phalango-Epiphyseal Dysplasia
Angel Shaped Phalangoepiphyseal Dysplasia

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Proximal Symphalangism

Cushing'S Symphalangism	Symphalangism, Proximal
Hereditary Absence Of Proximal Interphalangeal Joints	Strasburger-Hawkins-Eldridge Syndrome
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome	Symphalangism, Proximal, 1a
Symphalangism, Proximal, 1b	Vessel'S Syndrome
Symphalangism, Cushing Type

Brachydactyly, Type A1

Brachydactyly Type A1	BDA1
Farabee-Type Brachydactyly	Farabee Type Brachydactyly
Brachydactyly Farabee Type	Brachydactyly, Farabee Type
Brachydactyly A1	Brachydactyly

Acromesomelic Dysplasia

Acromesomelic Dwarfism	Dysplasia, Acromesomelic
Acromesomelic Dysplasia Hunter-Thompson Type

Brachydactyly

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

Spondylolisthesis

Slipped Vertebrae

Acquired Spondylolisthesis

Synostoses, Tarsal, Carpal, And Digital

Calcaneonavicular Coalition	Multiple Synostosis Syndrome
Synostoses, Tarsal, Carpal And Digital

Tarsal-Carpal Coalition Syndrome

TCC	Tarsal Carpal Coalition Syndrome
Nog-Related-Symphalangism Spectrum Disorder

Microphthalmia, Isolated 4

Isolated Microphthalmia 4	MCOP4
Microphthalmia, Isolated, 4	Isolated Clinical Anophthalmia
Microphthalmia, Isolated, Type 4

Leber Congenital Amaurosis 17

LCA17

Leber Congenital Amaurosis, Type 17

Brachydactyly, Type A1, D

Brachydactyly Type A1d	BDA1D
Brachydactyly A1, D

Synostosis

Brachydactyly, Type B2

Brachydactyly Type B2	BDB2
Brachydactyly B2

Trichorhinophalangeal Syndrome, Type Iii

Trichorhinophalangeal Syndrome Type Iii	TRPS3
Sugio-Kajii Syndrome	Trichorhinophalangeal Syndrome Type 3
Trps 3	Tricho-Rhino-Phalangeal Syndrome 3

Sugarman Brachydactyly

Brachydactyly With Major Proximal Phalangeal Shortening	Brachydactyly Of The Hands And Feet With Duplication Of The First Toes
Sugarman-Hager-Kulik Syndrome	Orofaciodigital Syndrome 3

Chronic Tympanitis

Klippel-Feil Syndrome 1

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, Type A4

Brachymesophalangy Ii And V	Temtamy Type Brachydactyly
Brachydactyly Type A4	BDA4
Brachymesophalangy 2 And 5	Brachydactyly Temtamy Type
Brachydactyly, Temtamy Type

Clubfoot

Congenital Talipes Equinovarus	Congenital Clubfoot
Congenital Equinovarus	Equinovarus Deformity Of Foot
Club Foot

Bone Deterioration Disease

Brachydactyly, Type B1

Brachydactyly Type B1	Brachydactyly Type B
BDB1	Brachydactyly, Type B
Bdb	Brachydactyly B1

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Immunodeficiency 36

IMD36	Activated Phosphoinositide 3-Kinase Delta Syndrome 2
Immunodeficiency, Type 36

Exostosis

Osteophyte	Exostoses
Orbital Exostosis	Exostosis Of Orbit
Bone Spur	Bony Outgrowth
Swimmer'S Exostosis	Osteophytes
External Exotoses	Cartilaginous Exostosis

Acute Tympanitis

Acute Myringitis

Cartilage Disease

Cartilage Diseases	Cartilage
Cartilage Disorder	Chondropathy
Cartilage Disorders

Bone Structure Disease

Fibrochondrogenesis

Fbcg1	Fbcg2
Fibrochondrogenesis-1	Fibrochondrogenesis-2
Fibrochondrogenesis 1	Fibrochondrogenesis 2

Acrocapitofemoral Dysplasia

ACFD	Dysplasia, Acrocapitofemoral

Bone Development Disease

Klippel-Feil Syndrome

Cervical Vertebral Fusion	Congenital Dystrophia Brevicollis
Cervical Fusion Syndrome	Klippel-Feil Deformity
Autosomal Dominant Klippel-Feil Syndrome	Congenital Synostosis Of Cervical Vertebrae
Klippel-Feil And Turner Syndrome	Klippel-Feil Deformity, Deafness And Facial Asymmetry
Klippel Feil Syndrome	Cervical Vertebral Fusion Syndrome
Dystrophia Brevicollis Congenita	Fusion Of Cervical Vertebrae
Kfs	Klippel-Feil Sequence
Vertebral Cervical Fusion Syndrome	Klippel-Feil Syndrome, Autosomal Dominant
Klippel-Feil Malformation	Isolated Klippel-Feil Syndrome

Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly

Fuhrmann Syndrome	Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies
Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome	Fuhrmann-Rieger-De Sousa Syndrome
FUHRS	Fibular Aplasia
Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly

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

Spondylolysis

Acquired Spondylolysis

Calcific Tendinitis

Calcific Tendinitis Nos

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

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

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Acromicric Dysplasia

ACMICD	Acromicric Skeletal Dysplasia
Dysplasia, Acromicric

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome	Levy-Hollister Syndrome
Lacrimo-Auriculo-Dento-Digital Syndrome	LADD
Lacrimoauriculodento-Digital Syndrome	Levy Hollister Syndrome
Lard Syndrome	Lacrimoauriculoradiodental Syndrome
LADDS	Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Dysostosis

Dysostoses

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

Enophthalmos

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

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GDF5	VGNC	VGNC:29303
Felis catus	GDF5	VGNC	VGNC:80108
Macaca mulatta	GDF5	VGNC	VGNC:107794
Canis familiaris	GDF5	VGNC	VGNC:41163
Rattus norvegicus	GDF5	RGD	RGD:620102
Mus musculus	GDF5	MGD	MGI:95688