FREM2 FRAS1 related extracellular matrix 2
Gene ID: 341640, updated on 3-Nov-2024Gene type: protein coding
Also known as: CRYPTOP; FRASRS2
- See all available tests in GTR for this gene
- Go to complete Gene record for FREM2
- Go to Variation Viewer for FREM2 variants
Summary
This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Fraser syndrome 2 | See labs |
| Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. GeneReviews: Not available | |
| Isolated cryptophthalmia | See labs |
Genomic context
- Location:
- 13q13.3
- Sequence:
- Chromosome: 13; NC_000013.11 (38687077..38887131)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FREM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FREM2 database
- 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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