| Tbio | SPARC-related modular calcium-binding protein 2 |
Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis.
This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Dentin dysplasia | 19 | 4.398 | 2.2 |
| Tooth agenesis | 38 | 3.258 | 1.6 |
| Disease | Target Count |
|---|---|
| Dentin dysplasia, type 1 | 2 |
| bladder exstrophy | 12 |
| Disease | Target Count |
|---|---|
| Dentin dysplasia 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | 1.293 | 0.000 |
| type II diabetes mellitus and post-ische... | 1.200 | 0.013 |
| medulloblastoma, large-cell | 1.100 | 0.000 |
| Becker muscular dystrophy | 1.112 | 0.010 |
| Amyotrophic Lateral Sclerosis | 1.007 | 0.000 |
| Atopic dermatitis | -1.100 | 0.003 |
| adrenocortical carcinoma | -1.848 | 0.002 |
| primary pancreatic ductal adenocarcinoma | 1.778 | 0.001 |
| intraductal papillary-mucinous adenoma (... | -3.400 | 0.000 |
| intraductal papillary-mucinous carcinoma... | -4.400 | 0.000 |
| intraductal papillary-mucinous neoplasm ... | -4.000 | 0.001 |
| active Crohn's disease | 2.145 | 0.009 |
| diabetes mellitus | -1.200 | 0.004 |
| cystic fibrosis | 1.500 | 0.000 |
| sonic hedgehog group medulloblastoma | 1.600 | 0.005 |
| Breast cancer | -2.200 | 0.048 |
| lung carcinoma | 1.600 | 0.000 |
| spina bifida | -2.880 | 0.024 |
| invasive ductal carcinoma | -2.100 | 0.000 |
| ovarian cancer | -4.300 | 0.000 |
| pancreatic cancer | 1.500 | 0.001 |
| facioscapulohumeral dystrophy | 2.000 | 0.045 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG |
| Opossum | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA Inparanoid |
| PMID | Text |
|---|---|
| 25915847 | L1-mediated CRC progression involves the acquisition of a stem cell-like phenotype, and that SMOC-2 elevation is necessary for L1-mediated induction of more aggressive/invasive CRC properties. |
| 23463390 | SMOC2 SNP may play a role in autoimmune thyroid disease susceptibility as a dominant polymorphism. |
| 23317772 | mutation in exon 8 of the SMOC2 gene linked to oligodontia |
| 22964816 | could not detect an association between SMOC2 gene and AMD. This study tests the candidacy of SMOC2 gene to the etiology of AMD |
| 22152679 | Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects |
| 20965805 | The variant rs13208776 in SMOC2 gene does not play a major role in increasing the risk of vitiligo in Jordanian Arab patients. |
| 20965805 | Observational study of gene-disease association. (HuGE Navigator) |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 19890347 | SMOC2 is a risk locus for generalized vitiligo and perhaps other autoimmune diseases |
| 19890347 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) |
| More... |
MLLPQLCWLPLLAGLLPPVPAQKFSALTFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAK 1 - 70 CKDPQLEIAYRGNCKDVSRCVAERKYTQEQARKEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRP 71 - 140 ISGTAVAHKTPRCPGSVNEKLPQREGTGKTDDAAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNKTNK 141 - 210 NSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDTGRPIPGTSTRYEQPK 211 - 280 CDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTSVLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEER 281 - 350 VVHWYFKLLDKNSSGDIGKKEIKPFKRFLRKKSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDG 351 - 420 KADTKKRHTPRGHAESTSNRQPRKQG 421 - 446 //
| PMID | Year | Title |
|---|---|---|
| 25915847 | 2016 | Induction of the intestinal stem cell signature gene SMOC-2 is required for L1-mediated colon cancer progression. |
| 23463390 | 2013 | Variants in PTPN22 and SMOC2 genes and the risk of thyroid disease in the Jordanian Arab population. |
| 23317772 | 2013 | Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. |
| 22964816 | 2012 | Lack of association between SMOC2 polymorphism and age-related macular degeneration in Jordanian Arabs. |
| 22152679 | 2011 | Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. |
| 20965805 | SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs. | |
| 20379614 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | |
| 19890347 | 2010 | Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. |
| 17204727 | 2007 | Secreted modular calcium-binding protein 2 haplotypes are associated with pulmonary function. |
| More... |
