IGSF3 (immunoglobulin superfamily member 3)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3321 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Immunoglobulin superfamily member 3 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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IGSF3 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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EWI-3, LCDD, V8 |
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Chromosome
Chromosome number
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1 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p13.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016] |
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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 | O75054 | |||||||||||||||||||||||||
| Protein name | Immunoglobulin superfamily member 3 (IgSF3) (Glu-Trp-Ile EWI motif-containing protein 3) (EWI-3) | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in a wide range of tissues with High expression in Placenta, kidney and lung. {ECO:0000269|PubMed:9790749}. | |||||||||||||||||||||||||
| Sequence |
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| Sequence length | 1194 | |||||||||||||||||||||||||
| 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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