SOSTDC1
Sclerostin Domain Containing 1
Gene Information Card
| Symbol | SOSTDC1 |
|---|---|
| Full Name | Sclerostin Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.2 |
| NCBI Gene ID | 25928 ncbi.nlm.nih.gov/gene/25928 |
| Ensembl ID | ENSG00000171243 |
| UniProt ID | Q6X4U4 |
| OMIM ID | 609675 |
| HGNC ID | 29423 |
| Aliases | USAG-1, ECTODIN, SOSTDC1 |
Description
SOSTDC1 (Sclerostin Domain Containing 1) encodes a secreted protein that functions as a bone morphogenetic protein (BMP) antagonist and modulates Wnt signaling. It plays roles in bone formation, tooth development, and kidney function. Dysregulation is implicated in cancer and renal diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal hypodysplasia | Inhibition of BMP signaling during kidney development | PMID: 17632514 |
| Osteoporosis | Antagonism of BMP-7 leading to reduced bone formation | PMID: 15591044 |
| Breast cancer | Epigenetic silencing and altered Wnt/BMP signaling | PMID: 22952447 |
| Colorectal cancer | Promoter hypermethylation reducing tumor suppressor function | PMID: 23361062 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Bone | 8.3 | Medium |
| Tooth bud | 15.2 | High |
| Liver | 2.1 | Low |
| Breast | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.7 | High expression |
| MCF-7 | 2.3 | Low expression |
| HCT116 | 1.8 | Low expression |
| HK-2 | 14.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional effect |
| c.214C>T | Nonsense | <0.1% | Predicted loss of function |
| c.358G>A | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • BMP binding | • Wnt-protein binding |
| • extracellular region | • negative regulation of BMP signaling pathway |
| • negative regulation of Wnt signaling pathway |
Pathways
• BMP signaling pathway
• Wnt signaling pathway
• Regulation of osteoblast differentiation
Protein Summary
SOSTDC1 is a secreted 206-amino acid protein containing a cystine-knot domain. It binds BMPs (especially BMP-2, BMP-4, BMP-7) and Wnt proteins, inhibiting their signaling. It is critical for kidney development, tooth morphogenesis, and bone homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOSTDC1 Knockout HEK293 Cell Line | EDJ-KQ8307 | Human | 25928 | Details Get a Quote |
| SOSTDC1 Knockout HeLa Cell Line | EDJ-KQ55852 | Human | 25928 | Details Get a Quote |
| SOSTDC1 Knockout A-549 Cell Line | EDJ-KQ64342 | Human | 25928 | Details Get a Quote |
| SOSTDC1 Knockout HCT 116 Cell Line | EDJ-KQ72795 | Human | 25928 | Details Get a Quote |
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