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; OMA:FREM2 - orthologs
Gene location (Human)
Chr.	Chromosome 13 (human)
End	38,887,131 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	53,564,776 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; tibialis anterior muscle; ; deltoid muscle; ; pancreatic epithelial cell; ; metanephros; ; lower lobe of lung; ; vastus lateralis muscle; ; endometrium; ; human kidney; ; Skeletal muscle tissue of rectus abdominis;
	Top expressed in
	molar; ; vestibular membrane of cochlear duct; ; epithelium of lens; ; genital tubercle; ; hand; ; primitive streak; ; migratory enteric neural crest cell; ; vas deferens; ; corneal epithelium; ; tail of embryo;
	More reference expression data
	; ;
	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
	341640
	242022
	ENSG00000150893
	ENSMUSG00000037016
	Q5SZK8
	Q6NVD0
	NM_207361
	NM_172862
	NP_997244
	NP_766450
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000150893 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037016 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: FREM2 FRAS1 related extracellular matrix protein 2".

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.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000150893 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid15345741-5] 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.

[entrez-6] "Entrez Gene: FREM2 FRAS1 related extracellular matrix protein 2".

[1]

References

Further reading