SMOC2: SPARC Related Modular Calcium Binding 2
A matricellular protein involved in angiogenesis, cell proliferation, and extracellular matrix remodeling.
Gene Information Card
| Symbol | SMOC2 |
|---|---|
| Full Name | SPARC related modular calcium binding 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 64094 ncbi.nlm.nih.gov/gene/64094 |
| Ensembl ID | ENSG00000112562 |
| UniProt ID | Q9H3U7 |
| OMIM ID | 607223 |
| HGNC ID | 20323 |
| Aliases | MSTP117, MSTP118, SMAP-2, bA37D8.1 |
Description
SMOC2 (SPARC related modular calcium binding 2) encodes a matricellular protein that belongs to the SPARC family. It contains an EF-hand calcium-binding domain and a thyroglobulin type-1 domain. SMOC2 is involved in cell proliferation, angiogenesis, and extracellular matrix remodeling. It is widely expressed in various tissues and has been implicated in developmental processes and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofacial cleft | SMOC2 mutations disrupt craniofacial development; loss of function leads to cleft lip/palate | OMIM: 607223; PMID: 23541322 |
| Coronary artery disease | SMOC2 variants associated with altered angiogenesis and vascular remodeling | ClinVar; PMID: 29255176 |
| Colorectal cancer | SMOC2 overexpression promotes tumor growth and metastasis via integrin signaling | COSMIC; PMID: 25605248 |
| Glioblastoma | SMOC2 upregulation correlates with poor prognosis and enhanced cell migration | COSMIC; PMID: 27397505 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Brain | 4.7 | Low |
| Testis | 20.1 | High |
| Placenta | 18.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | High expression |
| HeLa | 14.1 | Moderate expression |
| A549 | 9.8 | Low expression |
| MCF7 | 11.5 | Moderate expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.104C>T (p.Pro35Leu) | missense | Rare | Alters protein stability; associated with orofacial cleft |
| c.487G>A (p.Gly163Arg) | missense | Rare | Disrupts calcium binding; reduced function |
| c.1123C>T (p.Arg375Trp) | missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the EF-hand domain (e.g., p.Gly163Arg) impair calcium binding and reduce protein function.
Gain of Function (GOF)
Not well documented; overexpression in tumors suggests potential gain-of-function in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects currently reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway
• Angiogenesis pathway
• Extracellular matrix remodeling
Protein Summary
SMOC2 is a 446-amino acid secreted matricellular protein with a signal peptide, a thyroglobulin type-1 domain, two EF-hand calcium-binding domains, and a Kazal-like domain. It modulates cell-matrix interactions, promotes angiogenesis, and influences cell proliferation. The protein is widely expressed and its dysregulation is linked to developmental defects and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMOC2 Knockout HEK293 Cell Line | EDJ-KQ12164 | Human | 64094 | Details Get a Quote |
| SMOC2 Knockout HeLa Cell Line | EDJ-KQ57022 | Human | 64094 | Details Get a Quote |
| SMOC2 Knockout A-549 Cell Line | EDJ-KQ65528 | Human | 64094 | Details Get a Quote |
| SMOC2 Knockout HCT 116 Cell Line | EDJ-KQ73963 | Human | 64094 | Details Get a Quote |
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