FREM2

FREM2
Identifiers
Aliases	FREM2 , FRAS1 related extracellular matrix protein 2, FRASRS2, FRAS1 related extracellular matrix 2, CRYPTOP
External IDs	OMIM: 608945 MGI: 2444465 HomoloGene: 18454 GeneCards: FREM2
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q13.3 Start 38,687,077 bp [1] End 38,887,131 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3 C|3 25.24 cM Start 53,421,359 bp [2] End 53,564,776 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla tibialis anterior muscle deltoid muscle pancreatic epithelial cell metanephros lower lobe of lung kidney vastus lateralis muscle endometrium biceps brachii Top expressed in molar hand primitive streak vas deferens corneal epithelium atrioventricular valve atrium belly cord otolith organ maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding Cellular component plasma membrane membrane basement membrane integral component of membrane extracellular exosome Biological process multicellular organism development morphogenesis of an epithelium inner ear development heart development cell communication cell adhesion eye development embryonic digit morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 3: 53.42 – 53.56 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000150893 - Ensembl, May 2017
2. 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. "Entrez Gene: FREM2 FRAS1 related extracellular matrix protein 2".

Further reading

• Timmer JR, Mak TW, Manova K, Anderson KV, Niswander L, et al. (2005). "Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene". Proc. Natl. Acad. Sci. U.S.A. 102 (33): 11746–50. Bibcode:2005PNAS..10211746T. doi: 10.1073/pnas.0505404102 . PMC   1183448 . PMID   16087869.
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC   2665288 . PMID   15057823.
• Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.
• Jadeja S, Smyth I, Pitera JE, et al. (2005). "Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs". Nat. Genet. 37 (5): 520–5. doi:10.1038/ng1549. PMID   15838507. S2CID   7666665.
• Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC   1850943 . PMID   16335952.
• Kiyozumi D, Sugimoto N, Sekiguchi K (2006). "Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects". Proc. Natl. Acad. Sci. U.S.A. 103 (32): 11981–6. Bibcode:2006PNAS..10311981K. doi: 10.1073/pnas.0601011103 . PMC   1567684 . PMID   16880404.