IGSF3 immunoglobulin superfamily member 3
Gene ID: 3321, updated on 14-Nov-2024Gene type: protein coding
Also known as: V8; LCDD; EWI-3
- See all available tests in GTR for this gene
- Go to complete Gene record for IGSF3
- Go to Variation Viewer for IGSF3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial congenital nasolacrimal duct obstruction | See labs |
| Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. GeneReviews: Not available |
Genomic context
- Location:
- 1p13.1
- Sequence:
- Chromosome: 1; NC_000001.11 (116574398..116667755, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IGSF3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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