FREM2
Identifiers
AliasesFREM2, FRAS1 related extracellular matrix protein 2, FRASRS2, FRAS1 related extracellular matrix 2, CRYPTOP
External IDsOMIM: 608945 MGI: 2444465 HomoloGene: 18454 GeneCards: FREM2
Orthologs
SpeciesHumanMouse
Entrez

341640

242022

Ensembl

ENSG00000150893

ENSMUSG00000037016

UniProt

Q5SZK8

Q6NVD0

RefSeq (mRNA)

NM_207361

NM_172862

RefSeq (protein)

NP_997244

NP_766450

Location (UCSC)Chr 13: 38.69 – 38.89 MbChr 3: 53.42 – 53.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FRAS1-related extracellular matrix protein 2 is a protein that in humans is encoded by the FREM2 gene.[5][6]

This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000150893 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037016 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ (Sep 2004). "The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis". Proc Natl Acad Sci U S A. 101 (37): 13560–5. Bibcode:2004PNAS..10113560S. doi:10.1073/pnas.0402760101. PMC 518794. PMID 15345741.
  6. 1 2 "Entrez Gene: FREM2 FRAS1 related extracellular matrix protein 2".

Further reading


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