FREM2
From Wikipedia, the free encyclopedia
FRAS1 related extracellular matrix protein 2
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Identifiers | ||||||||||||||
Symbol(s) | FREM2; DKFZp686J0811; DKFZp781I048; KIAA1074 | |||||||||||||
External IDs | OMIM: 608945 MGI: 2444465 HomoloGene: 18454 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 341640 | 242022 | ||||||||||||
Ensembl | ENSG00000150893 | ENSMUSG00000037016 | ||||||||||||
Uniprot | Q5SZK8 | Q1XGY5 | ||||||||||||
Refseq | NM_207361 (mRNA) NP_997244 (protein) |
NM_172862 (mRNA) NP_766450 (protein) |
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Location | Chr 13: 38.16 - 38.35 Mb | Chr 3: 53.51 - 53.75 Mb | ||||||||||||
Pubmed search | [1] | [2] |
FRAS1 related extracellular matrix protein 2, also known as FREM2, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- 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. 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. doi: . 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: . 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. doi: . 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: . PMID 15146197.
- Smyth I, Du X, Taylor MS, et al. (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. doi: . PMID 15345741.
- 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: . PMID 15838507.
- 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: . 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. doi: . PMID 16880404.