SHROOM3 shroom family member 3
Gene ID: 57619, updated on 2-Nov-2024Gene type: protein coding
Also known as: SHRM; APXL3; ShrmL; MSTP013
- See all available tests in GTR for this gene
- Go to complete Gene record for SHROOM3
- Go to Variation Viewer for SHROOM3 variants
Summary
This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 5q22 associate with pediatric eosinophilic esophagitis. GeneReviews: Not available | |
| Genetic loci influencing kidney function and chronic kidney disease. GeneReviews: Not available | |
| Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Multiple loci associated with indices of renal function and chronic kidney disease. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
| Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. GeneReviews: Not available |
Genomic context
- Location:
- 4q21.1
- Sequence:
- Chromosome: 4; NC_000004.12 (76435229..76783253)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SHROOM3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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