SMOC1 (SPARC related modular calcium binding 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 64093 |
| Gene name | SPARC related modular calcium binding 1 |
| Gene symbol | SMOC1 |
| Synonyms (NCBI Gene) |
OAS
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| Chromosome | 14 |
| Chromosome location | 14q24.2 |
| Summary | This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isof |
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SNPs
SNP information provided by dbSNP.
10
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miRNA
miRNA information provided by mirtarbase database.
646
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H4F8 | ||||||||||||||||||||||||||||||
| Protein name | SPARC-related modular calcium-binding protein 1 (Secreted modular calcium-binding protein 1) (SMOC-1) | ||||||||||||||||||||||||||||||
| Protein function | Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. | ||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen. {ECO:0000269|PubMed:12130637}. | ||||||||||||||||||||||||||||||
| Sequence | |||||||||||||||||||||||||||||||
| Sequence length | 434 | ||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
43
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