TM7SF2

TM7SF2
Identifiers
Aliases	TM7SF2 , ANG1, DHCR14A, NET47, transmembrane 7 superfamily member 2, C14SR
External IDs	OMIM: 603414 MGI: 1920416 HomoloGene: 68305 GeneCards: TM7SF2
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.1 Start 65,111,845 bp [1] End 65,116,384 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 A Start 6,112,851 bp [2] End 6,118,403 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas right lobe of liver skin of abdomen vulva prefrontal cortex left ventricle Brodmann area 9 cingulate gyrus parotid gland Brodmann area 10 Top expressed in left lobe of liver ciliary body spinal ganglia otic placode iris esophagus medial dorsal nucleus pyloric antrum retinal pigment epithelium external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor oxidoreductase activity delta14-sterol reductase activity NADP binding Cellular component organelle membrane integral component of membrane endoplasmic reticulum membrane membrane receptor complex integral component of plasma membrane integral component of endoplasmic reticulum membrane nuclear inner membrane endoplasmic reticulum intracellular membrane-bounded organelle Biological process steroid metabolic process sterol biosynthetic process lipid metabolism cholesterol metabolic process cholesterol biosynthetic process steroid biosynthetic process regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7108 73166 Ensembl ENSG00000149809 ENSMUSG00000024799 UniProt O76062 Q71KT5 RefSeq (mRNA) NM_001277233 NM_003273 NM_028454 RefSeq (protein) NP_001264162 NP_003264 NP_082730 Location (UCSC) Chr 11: 65.11 – 65.12 Mb Chr 19: 6.11 – 6.12 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Delta(14)-sterol reductase is an enzyme that in humans is encoded by the TM7SF2 gene. ^{[5] [6] [7]}

References

1. GRCh38: Ensembl release 89: ENSG00000149809 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024799 - 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. Lemmens IH, Kas K, Merregaert J, Van de Ven WJ (Aug 1998). "Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13". Genomics. 49 (3): 437–42. doi:10.1006/geno.1998.5296. PMID   9615229.
6. Lemmens I, Merregaert J, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De Witte K, Salandre J, Lenoir G, Calender A, Parente F, Quincey D, Courseaux A, Carle GF, Gaudray P, De Wit MJ, Lips CJ, Hoppener JW, Khodaei S, Grant AL, Weber G, Kytola S, Thakker RV, et al. (Nov 1997). "Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1". Genomics. 44 (1): 94–100. doi:10.1006/geno.1997.4872. PMID   9286704.
7. "Entrez Gene: TM7SF2 transmembrane 7 superfamily member 2".

Further reading

• Bennati AM, Castelli M, Della Fazia MA, et al. (2006). "Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis". Biochim. Biophys. Acta. 1761 (7): 677–85. doi:10.1016/j.bbalip.2006.05.004. PMID   16784888.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• 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.
• Prakash A, Kasbekar DP (2002). "Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants". J. Biosci. 27 (2): 105–12. doi:10.1007/BF02703766. PMID   11937680. S2CID   38757194.
• Roberti R, Bennati AM, Galli G, et al. (2002). "Cloning and expression of sterol Delta 14-reductase from bovine liver". Eur. J. Biochem. 269 (1): 283–90. doi: 10.1046/j.0014-2956.2001.02646.x . PMID   11784322.
• Holmer L, Pezhman A, Worman HJ (1999). "The human lamin B receptor/sterol reductase multigene family". Genomics. 54 (3): 469–76. doi: 10.1006/geno.1998.5615 . PMID   9878250.