Property Summary

NCBI Gene PubMed Count 12
PubMed Score 12.36
PubTator Score 12.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 2.700 0.000
esophageal adenocarcinoma -1.300 0.022
psoriasis 1.400 0.000
osteosarcoma -1.844 0.000
adrenocortical carcinoma -1.452 0.020
intraductal papillary-mucinous adenoma (... -1.200 0.002
interstitial cystitis -1.300 0.000
adult high grade glioma -1.200 0.001
ductal carcinoma in situ -1.200 0.006
pituitary cancer 1.400 0.000

Synonym

Accession O76062 A8K4H0 O95982 Q8IY06 Q96E64 Q96GZ1 Delta-14-SR
Symbols ANG1
NET47
DHCR14A

Gene

PANTHER Protein Class (2)

Gene RIF (5)

PMID Text
20138239 Data suggest that, besides the SRE motif, both the inverted CCAAT-box and GC-box2 are essential for full TM7SF2 promoter activation by SREBP-2.
19940018 LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum.
18660489 Observational study of gene-disease association. (HuGE Navigator)
16784888 a primary role in human cholesterol biosynthesis
11937680 Results show that the TM7SF2 gene product SR-1 and six chimeras containing SR-1 and Neurospora erg-3 sequences fail to complement sterol c-14 reductase mutants in Neurospora and yeast.

AA Sequence

MAPTQGPRAPLEFGGPLGAAALLLLLPATMFHLLLAARSGPARLLGPPASLPGLEVLWSPRALLLWLAWL      1 - 70
GLQAALYLLPARKVAEGQELKDKSRLRYPINGFQALVLTALLVGLGMSAGLPLGALPEMLLPLAFVATLT     71 - 140
AFIFSLFLYMKAQVAPVSALAPGGNSGNPIYDFFLGRELNPRICFFDFKYFCELRPGLIGWVLINLALLM    141 - 210
KEAELRGSPSLAMWLVNGFQLLYVGDALWHEEAVLTTMDITHDGFGFMLAFGDMAWVPFTYSLQAQFLLH    211 - 280
HPQPLGLPMASVICLINATGYYIFRGANSQKNTFRKNPSDPRVAGLETISTATGRKLLVSGWWGMVRHPN    281 - 350
YLGDLIMALAWSLPCGVSHLLPYFYLLYFTALLVHREARDERQCLQKYGLAWQEYCRRVPYRIMPYIY      351 - 418
//

Text Mined References (13)

PMID Year Title
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
20138239 2010 Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box.
19940018 2010 Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
16784888 2006 Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11937680 2002 Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants.
11784322 2002 Cloning and expression of sterol Delta 14-reductase from bovine liver.
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