Contents

GDF6

Protein-coding gene in the species Homo sapiens

GDF6
Identifiers
Aliases	GDF6, BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, growth differentiation factor 6, SYNS4
External IDs	OMIM: 601147; MGI: 95689; HomoloGene: 40883; GeneCards: GDF6; OMA:GDF6 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.1 Start 96,142,333 bp[1] End 96,160,806 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A1 Start 9,844,372 bp[2] End 9,862,345 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta gonad ventricular zone gallbladder right auricle gastric mucosa right coronary artery Achilles tendon smooth muscle tissue left coronary artery Top expressed in auditory ossicle stapes incus malleus ganglion embryo Jacobson's organ sensory ganglion genital tubercle trigeminal ganglion More reference expression data BioGPS n/a
Gene ontology Molecular function cytokine activity protein homodimerization activity transforming growth factor beta receptor binding growth factor activity protein binding Cellular component extracellular region extracellular space Biological process regulation of apoptotic process apoptotic process pathway-restricted SMAD protein phosphorylation retinal cell apoptotic process regulation of MAPK cascade cell development positive regulation of pathway-restricted SMAD protein phosphorylation BMP signaling pathway positive regulation of transcription, DNA-templated multicellular organism development positive regulation of chondrocyte differentiation positive regulation of neuron differentiation activin receptor signaling pathway SMAD protein signal transduction positive regulation of p38MAPK cascade fat cell differentiation regulation of signaling receptor activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 392255 242316 Ensembl ENSG00000156466 ENSMUSG00000051279 UniProt Q6KF10 P43028 RefSeq (mRNA) NM_001001557 NM_013526 RefSeq (protein) NP_001001557 NP_038554 Location (UCSC) Chr 8: 96.14 – 96.16 Mb Chr 4: 9.84 – 9.86 Mb PubMed search [3] [4]
Wikidata
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Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.^[5]

GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins,^[6] and control eye development.^[7][8]

Growth differentiation factor 6 (GDF6) is a regulatory protein associated with growth and differentiation of developing embryos. GDF6 is encoded by the GDF6 gene. It is a member the transforming growth factor beta superfamily which is a group of proteins involved in early regulation of cell growth and development. GDF6 has been shown to play an important role in the patterning of the epidermis^[9] and bone and joint formation.^[10] GDF6 induces genes related to the development of the epidermis and can bind directly to noggin, a gene that controls neural development, to block its effect.^[9] GDF6 interacts with bone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural induction and patterning in developing embryos.^[9] By developing a GDF6 “knockout” model, scientists repressed expression of GDF6 in developing mice embryos. Through this experiment, the scientists were able to directly link GDF6 with several skull and vertebral joint disorders, such as scoliosis and chondrodysplasia, Grebe type.^[10]

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