SMOC1 (SPARC related modular calcium binding 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64093 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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SPARC related modular calcium binding 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SMOC1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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OAS |
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Chromosome
Chromosome number
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14 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q24.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||||||||||||
| UniProt ID | 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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