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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMOC2
SPARC related modular calcium binding 2
Chromosome 6 Β· 6q27
NCBI Gene: 64094Ensembl: ENSG00000112562.21HGNC: HGNC:20323UniProt: Q9H3U7
37PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of DNA biosynthetic processpositive regulation of endothelial cell chemotaxispositive regulation of endothelial cell migrationGO:0005615dentin dysplasia type Iatypical dentin dysplasia due to SMOC2 deficiencyhypothyroidismCOVID-19
✦AI Summary

SMOC2 is a calcium-binding protein that promotes matrix assembly and cell adhesiveness, functioning primarily in extracellular matrix organization and angiogenesis. Mechanistically, SMOC2 stimulates endothelial cell proliferation and migration while positively regulating fibroblast growth factor receptor and vascular endothelial growth factor signaling pathways 1. The protein binds heparin and extracellular matrix components, supporting vascular wound healing and angiogenic processes [GO annotations]. In disease contexts, SMOC2 plays multifaceted roles: it is upregulated in dormant colorectal cancer stem cells and correlates with poor prognosis 2, functions as a key mediator of cancer-stem-cell phenotypes in KRAS-mutant colorectal cancer 3, and marks senescent fibroblasts that create tumor-permissive niches in aged bladder tissue 4. SMOC2 serves as an M2 macrophage-related prognostic marker in prostate cancer 5 and is upregulated in cerebrospinal fluid in Alzheimer's disease, suggesting involvement in neuroinflammatory processes 6. Additionally, SMOC2 is a marker of intestinal stem cell renewal requiring fatty acid oxidation 7 and shows depot-specific expression in adipose tissue correlating with cardiometabolic health 8. SMOC2 is associated with dentin dysplasia 1, indicating developmental roles in mineralized tissue formation.

Sources cited
1
SMOC2+ angiogenic chondrocytes identified in knee osteoarthritis; supports angiogenesis and endothelial cell interaction
PMID: 39904988
2
SMOC2 is a marker of intestinal stem cells requiring fatty acid oxidation for renewal
PMID: 31759926
3
SMOC2 is an M2 macrophage-related prognostic gene in prostate cancer associated with tumor progression
PMID: 39221762
4
SMOC2 is a specific signature marker of colorectal cancer stem cells correlating with poor prognosis
PMID: 33898197
5
SMOC2 is a key upregulated target mediating cancer-stem-cell phenotypes in KRAS-mutant colorectal cancer
PMID: 40329096
6
SMOC2 is highly expressed in senescent fibroblasts that promote bladder tumor growth in aged mice
PMID: 39251867
7
SMOC2 shows depot-specific expression in adipose tissue correlating with cardiometabolic traits
PMID: 41275133
8
SMOC2 is upregulated in cerebrospinal fluid in autosomal dominant Alzheimer's disease and sporadic AD
PMID: 37348871
Disease Associationsβ“˜21
dentin dysplasia type IOpen Targets
0.60Moderate
atypical dentin dysplasia due to SMOC2 deficiencyOpen Targets
0.53Moderate
hypothyroidismOpen Targets
0.41Moderate
COVID-19Open Targets
0.31Weak
severe acute respiratory syndromeOpen Targets
0.31Weak
Hashimoto's thyroiditisOpen Targets
0.30Weak
placenta praeviaOpen Targets
0.27Weak
urinary tract obstructionOpen Targets
0.27Weak
familial hemolytic anemiaOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.15Weak
protozoa infectious diseaseOpen Targets
0.14Weak
brain compressionOpen Targets
0.13Weak
edemaOpen Targets
0.13Weak
Alzheimer diseaseOpen Targets
0.12Weak
schizophreniaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
connective tissue diseaseOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Dentin dysplasia 1UniProt
Pathogenic Variants4
NM_001166412.2(SMOC2):c.13C>T (p.Gln5Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 5
NM_001166412.2(SMOC2):c.84+1G>TPathogenic
not provided|Dentin dysplasia type I
β˜…β˜†β˜†β˜†2017
NM_001166412.2(SMOC2):c.1122del (p.Phe375fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 375
NM_001166412.2(SMOC2):c.648T>A (p.Cys216Ter)Pathogenic
Dentin dysplasia type I
β˜†β˜†β˜†β˜†2025β†’ Residue 216
View on ClinVar β†—
Related Genes
PRKD2Shared pathway21%ANXA3Shared pathway18%EMC10Shared pathway18%CCBE1Shared pathway17%SASH1Shared pathway14%RRASShared pathway13%
Tissue Expression6 tissues
Ovary
100%
Heart
72%
Brain
42%
Lung
6%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SMOC2PRKD2ANXA3EMC10CCBE1SASH1RRAS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H3U7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.47–0.82]
RankingsWhere SMOC2 stands among ~20K protein-coding genes
  • #10,694of 20,598
    Most Researched37
  • #3,820of 5,498
    Most Pathogenic Variants4
  • #7,001of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedSMOC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Single-cell transcriptomics reveals novel chondrocyte and osteoblast subtypes and their role in knee osteoarthritis pathogenesis.
PMID: 39904988
Signal Transduct Target Ther Β· 2025
1.00
2
HNF4 Regulates Fatty Acid Oxidation and Is Required for Renewal of Intestinal Stem Cells in Mice.
PMID: 31759926
Gastroenterology Β· 2020
0.90
3
Comprehensive scRNA-seq analysis to identify new markers of M2 macrophages for predicting the prognosis of prostate cancer.
PMID: 39221762
Ann Med Β· 2024
0.80
4
Colorectal Cancer Stem Cell States Uncovered by Simultaneous Single-Cell Analysis of Transcriptome and Telomeres.
PMID: 33898197
Adv Sci (Weinh) Β· 2021
0.70
5
EGFR controls transcriptional and metabolic rewiring in KRAS
PMID: 40329096
EMBO Mol Med Β· 2025
0.60