GDF6 Gene - Growth Differentiation Factor 6
Key regulator of skeletal and ocular development
Gene Information Card
| Symbol | GDF6 |
|---|---|
| Full Name | Growth Differentiation Factor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 392255 ncbi.nlm.nih.gov/gene/392255 |
| Ensembl ID | ENSG00000156466 |
| UniProt ID | Q6KF10 |
| OMIM ID | 601147 |
| HGNC ID | 4221 |
| Aliases | BMP13, KFS, KFS1, KFS2, MCOP4, MCOPCB6, SCDO4 |
Description
GDF6 (Growth Differentiation Factor 6) is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. It plays a critical role in embryonic development, particularly in the formation of the skeleton, joints, and eyes. Mutations in GDF6 are associated with Klippel-Feil syndrome, microphthalmia, and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Klippel-Feil syndrome 1 (KFS1) | Loss-of-function mutations in GDF6 disrupt cervical vertebral segmentation during development. | OMIM #118100 |
| Microphthalmia, isolated 4 (MCOP4) | Homozygous or compound heterozygous mutations impair ocular development. | OMIM #613094 |
| Microphthalmia with colobomatous cyst (MCOPCB6) | Biallelic GDF6 mutations lead to severe eye malformations. | OMIM #617651 |
| Symphalangism, proximal, 1B (SYM1B) | Missense mutations alter BMP signaling, causing joint fusion. | OMIM #615298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 15.3 | Medium |
| Eye | 8.7 | Low |
| Brain | 3.2 | Low |
| Heart | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoblasts | 18.4 | High expression in bone-forming cells |
| Chondrocytes | 22.1 | High expression in cartilage cells |
| Retinal pigment epithelial cells | 9.8 | Moderate expression |
| Fibroblasts | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.866A>G (p.Tyr289Cys) | Missense | Rare | Loss of function; associated with KFS1 |
| c.1120C>T (p.Arg374Ter) | Nonsense | Rare | Loss of function; associated with microphthalmia |
| c.1334G>A (p.Arg445His) | Missense | Rare | Gain of function; associated with SYM1B |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with MCOPCB6 |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that reduce or abolish GDF6 protein function, leading to Klippel-Feil syndrome and microphthalmia.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg445His) that enhance BMP signaling, associated with proximal symphalangism.
Dominant Negative (DN)
Not well documented for GDF6; most pathogenic mutations are recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
GDF6 is a secreted ligand of the TGF-beta superfamily that binds to BMP receptors (BMPR1A, BMPR1B, BMPR2) to activate SMAD-dependent signaling. It regulates chondrogenesis, osteogenesis, and eye development. The mature protein is a disulfide-linked homodimer. Mutations affecting the prodomain or mature domain disrupt folding, secretion, or receptor binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDF6 Knockout HEK293 Cell Line | EDJ-KQ1402 | Human | 392255 | Details Get a Quote |
| GDF6 Knockout HeLa Cell Line | EDJ-KQ60226 | Human | 392255 | Details Get a Quote |
| GDF6 Knockout A-549 Cell Line | EDJ-KQ68688 | Human | 392255 | Details Get a Quote |
| GDF6 Knockout HCT 116 Cell Line | EDJ-KQ77055 | Human | 392255 | Details Get a Quote |
