Property Summary

NCBI Gene PubMed Count 12
PubMed Score 18.02
PubTator Score 9.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
cutaneous lupus erythematosus 1056 1.5e-02
Disease Target Count Z-score Confidence
Premature ovarian failure 64 4.319 2.2
Disease Target Count Z-score Confidence
Male infertility 170 3.417 1.7
Disease Target Count
Premature ovarian failure 8 2

Expression

  Differential Expression (1)

Disease log2 FC p
cutaneous lupus erythematosus 1.400 1.5e-02

Gene RIF (7)

PMID Text
26059840 STAG3 truncating variant as the cause of primary ovarian insufficiency has been found in two sisters in a consanguineous Lebanese family.
24597867 We identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. Female mice devoid of Stag3 are sterile.
20635389 we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer
20635389 Observational study of gene-disease association. (HuGE Navigator)
19270026 Observational study of gene-disease association. (HuGE Navigator)
18788457 plays a role in regulation of transcription due to genetic imprinting, sister chromatid exchange, chromosome segregation and as an insulator element. (review)
18299561 identified as one of five genes containing 11 somatic mutations in a panel that included 132 colorectal cancers, then demonstrated that down-regulation of such homologs resulted in chromosomal instability and chromatid cohesion defects in human cells

AA Sequence

MSSPLQRAVGDTKRALSASSSSSASLPFDDRDSNHTSEGNGDSLLADEDTDFEDSLNRNVKKRAAKRPPK      1 - 70
TTPVAKHPKKGSRVVHRHSRKQSEPPANDLFNAVKAAKSDMQSLVDEWLDSYKQDQDAGFLELVNFFIQS     71 - 140
CGCKGIVTPEMFKKMSNSEIIQHLTEQFNEDSGDYPLIAPGPSWKKFQGSFCEFVRTLVCQCQYSLLYDG    141 - 210
FPMDDLISLLTGLSDSQVRAFRHTSTLAAMKLMTSLVKVALQLSVHQDNNQRQYEAERNKGPGQRAPERL    211 - 280
ESLLEKRKELQEHQEEIEGMMNALFRGVFVHRYRDVLPEIRAICIEEIGCWMQSYSTSFLTDSYLKYIGW    281 - 350
TLHDKHREVRLKCVKALKGLYGNRDLTTRLELFTSRFKDRMVSMVMDREYDVAVEAVRLLILILKNMEGV    351 - 420
LTDADCESVYPVVYASHRGLASAAGEFLYWKLFYPECEIRMMGGREQRQSPGAQRTFFQLLLSFFVESEL    421 - 490
HDHAAYLVDSLWDCAGARLKDWEGLTSLLLEKDQNLGDVQESTLIEILVSSARQASEGHPPVGRVTGRKG    491 - 560
LTSKERKTQADDRVKLTEHLIPLLPQLLAKFSADAEKVTPLLQLLSCFDLHIYCTGRLEKHLELFLQQLQ    561 - 630
EVVVKHAEPAVLEAGAHALYLLCNPEFTFFSRADFARSQLVDLLTDRFQQELEELLQSSFLDEDEVYNLA    631 - 700
ATLKRLSAFYNTHDLTRWELYEPCCQLLQKAVDTGEVPHQVILPALTLVYFSILWTLTHISKSDASQKQL    701 - 770
SSLRDRMVAFCELCQSCLSDVDTEIQEQAFVLLSDLLLIFSPQMIVGGRDFLRPLVFFPEATLQSELASF    771 - 840
LMDHVFIQPGDLGSGDSQEDHLQIERLHQRRRLLAGFCKLLLYGVLEMDAASDVFKHYNKFYNDYGDIIK    841 - 910
ETLTRARQIDRSHCSRILLLSLKQLYTELLQEHGPQGLNELPAFIEMRDLARRFALSFGPQQLQNRDLVV    911 - 980
MLHKEGIQFSLSELPPAGSSNQPPNLAFLELLSEFSPRLFHQDKQLLLSYLEKCLQHVSQAPGHPWGPVT    981 - 1050
TYCHSLSPVENTAETSPQVLPSSKRRRVEGPAKPNREDVSSSQEESLQLNSIPPTPTLTSTAVKSRQPLW   1051 - 1120
GLKEMEEEDGSELDFAQGQPVAGTERSRFLGPQYFQTPHNPSGPGLGNQLMRLSLMEEDEEEELEIQDES   1121 - 1190
NEERQDTDMQASSYSSTSERGLDLLDSTELDIEDF                                      1191 - 1225
//

Text Mined References (17)

PMID Year Title
26059840 2016 STAG3 truncating variant as the cause of primary ovarian insufficiency.
24597867 2014 Mutant cohesin in premature ovarian failure.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22428046 2012 Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.
21242291 2011 RAD21L, a novel cohesin subunit implicated in linking homologous chromosomes in mammalian meiosis.
20635389 2011 Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer.
19270026 2009 Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.
18788457 2008 [Function of cohesin in transcription].
18299561 2008 Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
12853948 2003 The DNA sequence of human chromosome 7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12034751 2002 STAG2 and Rad21 mammalian mitotic cohesins are implicated in meiosis.
10698974 2000 STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion.