GDF6 growth differentiation factor 6 [Homo sapiens (human)]
| Gene Symbol | GDF6 |
| Entrez Gene ID | 392255 |
| Full Name | growth differentiation factor 6 |
| Synonyms | BMP13, CDMP2, KFM, KFS, KFS1, KFSL, MCOP4, MCOPCB6, MGC158100, MGC158101, SCDO4, SGM1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
8 8q22.1 |
| Summary | This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq]. |
| Disorder | MIM: 601147 Klippel-Feil syndrome 1, autosomal dominant, 118100 (3); |
| mRNA | NM_001001557, 188219580 |
| Protein | NP_001001557, 48475062 |
| Product | growth/differentiation factor 6 precursor |
| RefSeq Status | REVIEWED |
| hsa04350 | TGF-beta signaling pathway |
| Homo sapiens (human) | GDF6 | NP_001001557.1 |
| Bos taurus (cattle) | GDF6 | XP_872968.2 |
| Mus musculus (house mouse) | Gdf6 | NP_038554.1 |
| Rattus norvegicus (Norway rat) | Gdf6 | NP_001013056.1 |
| Danio rerio (zebrafish) | gdf6a | NP_001153466.1 |
| Danio rerio (zebrafish) | gdf6b | NP_571062.1 |
| ID | Name | Evidence |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | IDA |
| GO:0030509 | BMP signaling pathway | IDA |
| GO:0032924 | activin receptor signaling pathway | IDA |
| GO:0040007 | growth | IEA |
| GO:0045666 | positive regulation of neuron differentiation | IEA |
| GO:0045893 | positive regulation of transcription, DNA-dependent | IDA |
| GO:0060389 | pathway-restricted SMAD protein phosphorylation | IDA |
Component
| ID | Name | Evidence |
| GO:0005576 | extracellular region | IEA |
| GO:0005615 | extracellular space | IEA |
Function
| ID | Name | Evidence |
| GO:0005125 | cytokine activity | IEA |
| GO:0008083 | growth factor activity | IEA |
| GO:0042803 | protein homodimerization activity | IEA |
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