Property Summary

NCBI Gene PubMed Count 12
PubMed Score 12.36
PubTator Score 12.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
osteosarcoma 7933 1.17386509666083E-8
malignant mesothelioma 3163 3.80135500098318E-7
pituitary cancer 1972 5.96181893229484E-5
interstitial cystitis 2299 1.12843366440457E-4
psoriasis 6685 4.23574403707518E-4
adult high grade glioma 2148 5.03060608997268E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00218176901611484
ductal carcinoma in situ 1745 0.00614086787531213
esophageal adenocarcinoma 737 0.0217097485011888
Disease Target Count Z-score Confidence
Pelger-Huet anomaly 8 4.837 2.4
adrenocortical carcinoma 1427 3.469 1.7

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)

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
C. elegans OMA EggNOG
S.cerevisiae OMA EggNOG Inparanoid

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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