GDF6 - growth differentiation factor 6 Gene

Homo sapiens

Also known as KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; SYNS4; BMP-13

Gene ID: 392255 | Gene type: protein coding

About GDF6

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:96,142,333-96,160,806 (from NCBI)

This gene has 1 transcript (splice variant), 105 orthologues, 31 paralogues and is associated with 10 phenotypes. Biased expression in placenta (RPKM 7.2), gall bladder (RPKM 1.8) and 6 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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]

GDF6 Products(1)

mRNA	Protein	Name
NM_001001557.4	NP_001001557.1	growth/differentiation factor 6 preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18586671	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	16049014	GOA
involved in activin receptor signaling pathway	IDA IDA: Inferred from direct assay	16049014	GOA
acts upstream of or within positive effect metanephros development	IDA IDA: Inferred from direct assay	32737436	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16049014	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	16049014	GOA
involved in positive regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	26643732	GOA
involved in positive regulation of chondrocyte differentiation	IMP IMP: Inferred from mutant phenotype	26643732	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

GDF6 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
400
455 a.a.

Protein Preferred Names

Protein Names

growth/differentiation factor 6

bone morphogenetic protein 13

Recombinant GDF6 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700022AF	Animal-Free BMP-13/GDF-6 Protein, Human (His)	Q6KF10 (T336-R455)	≥95%

Related Diseases

Diseases

Alias

Klippel-Feil Syndrome 1, Autosomal Dominant

KFS1	Cervical Vertebral Fusion Autosomal Dominant
Kfs	Cervical Vertebral Fusion, Autosomal Dominant
Cervical Vertebral Fusion Congenital	Congenital Klippel-Feil Segment
Fused Cervical Segments Congenital	Isolated Klippel-Feil Syndrome
Klippel-Feil Malformation	Klippel-Feil Sequence
Klippel-Feil Syndrome, Type 1, Autosomal Dominant	Klippel-Feil Syndrome, Autosomal Dominant

Leber Congenital Amaurosis 17

LCA17

Leber Congenital Amaurosis, Type 17

Microphthalmia, Isolated 4

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

Multiple Synostoses Syndrome 4

SYNS4

Microphthalmia, Isolated, With Coloboma 6

MCOPCB6	Microphthalmia With Coloboma 6, Digenic
Microphthalmia, Isolated, With Coloboma, 6	Isolated Colobomatous Microphthalmia 6
Microphthalmia, Isolated, With Coloboma, Type 6

Parkinson Disease 8, Autosomal Dominant

Parkinson Disease 8	Autosomal Dominant Parkinson Disease 8
PARK8	Parkinson'S Disease 8
Autosomal Dominant Parkinson'S Disease 8	Parkinson Disease-8
Parkinson Disease, Type 8, Autosomal Dominant

Isolated Klippel-Feil Syndrome

Congenital Cervical Vertebral Fusion	Congenital Fused Cervical Segments
Klippel-Feil Malformation	Klippel-Feil Sequence

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

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

Klippel-Feil Syndrome 1

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

Segmentation Syndrome 1

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Deafness, Autosomal Recessive 118, With Cochlear Aplasia

DFNB118

Deafness, Autosomal Recessive, 118, With Cochlear Aplasia

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Brachydactyly, Type A1, C

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

Isolated Microphthalmia

Synostosis

Synostoses, Tarsal, Carpal, And Digital

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

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 A2

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

Spondylocostal Dysostosis 4, Autosomal Recessive

SCDO4	Spondylocostal Dysostosis 4
Autosomal Recessive Spondylocostal Dysostosis 4	Doid:0112364
Dysostosis, Spondylocostal, Autosomal Recessive, Type 4

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome	Ofcd Syndrome
MCOPS2	Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects
Syndromic Microphthalmia 2	Anop2
Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome	Maa2
Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects	Syndromic Microphthalmia Type 2
Oculo-Facio-Cardio-Dental Syndrome	Anop2, Formerly
Maa2, Formerly	Microphthalmia Syndromic 2
Oculo Facio Cardio Dental Syndrome	Microphthalmia, Syndromic, 2
Marashi-Gorlin Syndrome	Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects
Microphthalmia, Syndromic, Type 2

Brachydactyly, Type A1

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

Syringomyelia

Hydromyelia

Spina Bifida Occulta

Craniofacial Microsomia

Goldenhar Syndrome	Hemifacial Microsomia
Oculoauriculovertebral Spectrum	Oavs
Oculo-Auriculo-Vertebral Spectrum	CFM
Oav Dysplasia	Facioauriculovertebral Sequence
Fav Sequence	First And Second Branchial Arch Syndrome
Otomandibular Dysostosis	Hfm
Oculoauriculovertebral Dysplasia	Facio-Auriculo-Vertebral Spectrum
Facioauriculovertebral Dysplasia	Oculo-Auriculo-Vertebral Dysplasia
First Arch Syndrome	Oav Dysplasia
Goldenhar Disease	Expanded Spectrum Hemifacial Microsomia
Expanded Spectrum Of Hemifacial Microsomia	Oculoauriculovertebral Syndrome
Oavd	Asymmetric Hypoplasia Of Facial Structures
Auriculobranchiogenic Dysplasia	Fav
First And Second Pharyngeal Arch Syndromes	Goldenhar-Gorlin Syndrome
Lateral Facial Dysplasia	Oav Complex
Oral-Mandibular-Auricular Syndrome	Unilateral Intrauterine Facial Necrosis
Unilateral Mandibulofacial Dysostosis	Oav Spectrum
Oculoauricular Vertebral Dysplasia	Microsomia, Hemifacial
Goldenhar Syndrome With Ipsilateral Radial Defect

Microphthalmia, Syndromic 3

MCOPS3	Aeg Syndrome
Microphthalmia And Esophageal Atresia Syndrome	Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia-Esophageal-Genital Syndrome	Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
Syndromic Microphthalmia 3	Sox2 Anophthalmia Syndrome
Anophthalmia Clinical With Associated Anomalies	Anophthalmia Esophageal Genital Syndrome
Anophthalmia Microphthalmia Esophageal Atresia	Syndromic Microphthalmia Type 3
Sox2-Related Eye Disorders	Anophthalmia, Clinical, With Associated Anomalies
Syndromic Microphthalmia, Type 3	Microphthalmia, Syndromic, 3
Anophthalmia/Microphthalmia-Esophageal Atresia	Microphthalmia Syndromic, Type 3

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Otosclerosis

Otospongiosis

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Nanophthalmos

Nanophthalmia

Orofacial Cleft

Cleft, Orofacial

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05356	GDF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GDF6	RGD	RGD:620104
Canis familiaris	GDF6	VGNC	VGNC:54113
Macaca mulatta	GDF6	VGNC	VGNC:104456
Mus musculus	GDF6	MGD	MGI:95689
Bos taurus	GDF6	VGNC	VGNC:29304
Others	GDF6	NCBI