GDF6 - growth differentiation factor 6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 392255

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18586671	GOA

Biological Process GO Annotation	Evidence	References	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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05356	GDF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174775	Human BMPR1A mRNA		/	Unkown
HY-RS21347	Gdf6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27866	Gdf6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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