GDF7 (Growth Differentiation Factor 7)
A member of the BMP family involved in tendon, ligament, and neural development
Gene Information Card
| Symbol | GDF7 |
|---|---|
| Full Name | Growth Differentiation Factor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000143869 |
| UniProt ID | Q7Z4P5 |
| OMIM ID | 601577 |
| HGNC ID | 4226 |
| Aliases | BMP12, GDF-7 |
Description
GDF7 (Growth Differentiation Factor 7), also known as BMP12, is a member of the bone morphogenetic protein (BMP) family and the transforming growth factor-beta (TGF-β) superfamily. It plays a critical role in the development and maintenance of tendons and ligaments, as well as in neural development. GDF7 signals through type I and type II serine/threonine kinase receptors and activates SMAD-dependent pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered GDF7 expression may contribute to joint tissue degeneration; involved in tendon and ligament homeostasis. | NCBI Gene, OMIM |
| Tendinopathy | Mutations or dysregulation of GDF7 impair tendon repair and regeneration. | NCBI Gene, OMIM |
| Neural tube defects | GDF7 is involved in dorsal neural tube patterning; variants may increase risk. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tendon | 12.5 | Medium |
| Ligament | 10.2 | Medium |
| Brain | 8.1 | Low |
| Spinal cord | 7.4 | Low |
| Skeletal muscle | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Tendon fibroblasts | 15.3 | Primary cells |
| Mesenchymal stem cells | 9.8 | Differentiation model |
| SH-SY5Y | 4.1 | Neuroblastoma cell line |
| HeLa | 2.0 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | <0.01% | Reduced receptor binding affinity |
| c.245G>A (p.Arg82His) | Missense | <0.01% | Altered SMAD signaling |
| c.331_333del (p.Phe111del) | Deletion | <0.01% | Loss of protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair receptor binding or protein stability lead to reduced signaling activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in GDF7.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for GDF7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
GDF7 is a secreted ligand of the TGF-β superfamily. The precursor protein undergoes proteolytic processing to generate a mature dimeric growth factor. It binds to BMP type I and type II receptors, leading to phosphorylation and nuclear translocation of SMAD transcription factors. GDF7 is essential for tendon and ligament formation, and also contributes to neural cell fate specification in the developing spinal cord.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDF7 Knockout HEK293 Cell Line | EDJ-KQ1403 | Human | 151449 | Details Get a Quote |
| GDF7 Knockout HeLa Cell Line | EDJ-KQ58688 | Human | 151449 | Details Get a Quote |
| GDF7 Knockout A-549 Cell Line | EDJ-KQ67171 | Human | 151449 | Details Get a Quote |
| GDF7 Knockout HCT 116 Cell Line | EDJ-KQ75573 | Human | 151449 | Details Get a Quote |
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