Property Summary

NCBI Gene PubMed Count 35
PubMed Score 11.37
PubTator Score 15.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 3.500 1.1e-06
astrocytic glioma -1.100 1.8e-02
posterior fossa group A ependymoma -2.200 5.1e-18
psoriasis -1.500 1.4e-04
osteosarcoma 2.880 6.0e-08
glioblastoma -1.800 4.0e-05
atypical teratoid/rhabdoid tumor -2.200 4.7e-09
medulloblastoma, large-cell -2.200 2.7e-05
intraductal papillary-mucinous carcinoma... 1.200 8.3e-03
pediatric high grade glioma -1.700 2.5e-06
group 3 medulloblastoma -1.200 5.1e-03
pilocytic astrocytoma -1.200 2.1e-03
lung carcinoma 1.800 1.2e-19
ovarian cancer 1.600 2.7e-08

Gene RIF (8)

PMID Text
26584642 MCF2L is subject to a cis-acting eQTL in synovial membrane that correlates with the OA association signal. This signal contains several functional SNPs that could account for the susceptibility and which therefore merit further investigation
25898923 A rare variant in MCF2L has been identified using exclusion linkage in a pedigree with premature atherosclerosis.
22615457 In conclusion, we find that GDF5, but not COG5 or MCF2L, influence the extent of radiographic damage in knee osteoarthritis
21871595 A single nucleotide polymorphism in MCF2L is associated with osteoarthritis.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19911011 Observational study of gene-disease association. (HuGE Navigator)
17562712 the guanine nucleotide exchange factor Ost has a role in negative regulation of receptor endocytosis by the small GTPase Rac1
14701795 Dbs is activated by Rac1 at the pleckstrin homology domain

AA Sequence

MFDCWRFILCKRPGSNSYSSPQRPNEAKKEETDHQIDVSDVIRLVQDTPEATAMATDEIMHQDIVPLCAA      1 - 70
DIQDQLKKRFAYLSGGRGQDGSPVITFPDYPAFSEIPDKEFQNVMTYLTSIPSLQDAGIGFILVIDRRRD     71 - 140
KWTSVKASVLRIAASFPANLQLVLVLRPTGFFQRTLSDIAFKFNRDDFKMKVPVIMLSSVPDLHGYIDKS    141 - 210
QLTEDLGGTLDYCHSRWLCQRTAIESFALMVKQTAQMLQSFGTELAETELPNDVQSTSSVLCAHTEKKDK    211 - 280
AKEDLRLALKEGHSVLESLRELQAEGSEPSVNQDQLDNQATVQRLLAQLNETEAAFDEFWAKHQQKLEQC    281 - 350
LQLRHFEQGFREVKAILDAASQKIATFTDIGNSLAHVEHLLRDLASFEEKSGVAVERARALSLDGEQLIG    351 - 420
NKHYAVDSIRPKCQELRHLCDQFSAEIARRRGLLSKSLELHRRLETSMKWCDEGIYLLASQPVDKCQSQD    421 - 490
GAEAALQEIEKFLETGAENKIQELNAIYKEYESILNQDLMEHVRKVFQKQASMEEVFHRRQASLKKLAAR    491 - 560
QTRPVQPVAPRPEALAKSPCPSPGIRRGSENSSSEGGALRRGPYRRAKSEMSESRQGRGSAGEEEESLAI    561 - 630
LRRHVMSELLDTERAYVEELLCVLEGYAAEMDNPLMAHLLSTGLHNKKDVLFGNMEEIYHFHNRIFLREL    631 - 700
ENYTDCPELVGRCFLERMEDFQIYEKYCQNKPRSESLWRQCSDCPFFQECQRKLDHKLSLDSYLLKPVQR    701 - 770
ITKYQLLLKEMLKYSRNCEGAEDLQEALSSILGILKAVNDSMHLIAITGYDGNLGDLGKLLMQGSFSVWT    771 - 840
DHKRGHTKVKELARFKPMQRHLFLHEKAVLFCKKREENGEGYEKAPSYSYKQSLNMAAVGITENVKGDAK    841 - 910
KFEIWYNAREEVYIVQAPTPEIKAAWVNEIRKVLTSQLQACREASQHRALEQSQSLPLPAPTSTSPSRGN    911 - 980
SRNIKKLEERKTDPLSLEGYVSSAPLTKPPEKGKGWSKTSHSLEAPEDDGGWSSAEEQINSSDAEEDGGL    981 - 1050
GPKKLVPGKYTVVADHEKGGPDALRVRSGDVVELVQEGDEGLWYVRDPTTGKEGWVPASSLSVRLGPSGS   1051 - 1120
AQCLSSSGKAHVPRAHP                                                        1121 - 1137
//

Text Mined References (37)

PMID Year Title
26584642 2015 Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.
25898923 2016 A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.
25483302 2014 Regulation of vesicle transport and cell motility by Golgi-localized Dbs.
24163127 2014 Genome-wide association study identifies multiple loci associated with bladder cancer risk.
23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22615457 2012 Genetic contribution to radiographic severity in osteoarthritis of the knee.
21871595 2011 A variant in MCF2L is associated with osteoarthritis.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19911011 2010 Mutation of ARHGAP9 in patients with coronary spastic angina.
19366686 2009 The rho-specific guanine nucleotide exchange factor Dbs regulates breast cancer cell migration.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17903294 2007 Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
17562712 2007 Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1.
17000758 2006 Ccpg1, a novel scaffold protein that regulates the activity of the Rho guanine nucleotide exchange factor Dbs.
16613852 2006 Transformation by the Rho-specific guanine nucleotide exchange factor Dbs requires ROCK I-mediated phosphorylation of myosin light chain.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15790807 2005 Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution.
15531584 2005 The Sec14 homology domain regulates the cellular distribution and transforming activity of the Rho-specific guanine nucleotide exchange factor Dbs.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15274927 2004 Crystal structure of the DH/PH fragment of Dbs without bound GTPase.
15157669 2004 Role of the Sec14-like domain of Dbl family exchange factors in the regulation of Rho family GTPases in different subcellular sites.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14991610 2004 The RhoA- and CDC42-specific exchange factor Dbs promotes expansion of immature thymocytes and deletion of double-positive and single-positive thymocytes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14701795 2004 Pleckstrin homology domain-mediated activation of the rho-specific guanine nucleotide exchange factor Dbs by Rac1.
12637522 2003 Multifunctional roles for the PH domain of Dbs in regulating Rho GTPase activation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12376551 2002 RhoG signals in parallel with Rac1 and Cdc42.
12215546 2002 RhoGEF specificity mutants implicate RhoA as a target for Dbs transforming activity.
12147231 2002 Role of Dbl's big sister in the anti-mitogenic pathway from alpha1B-adrenergic receptor to c-Jun N-terminal kinase.
12006984 2002 Structural basis for the selective activation of Rho GTPases by Dbl exchange factors.
11889037 2002 A crystallographic view of interactions between Dbs and Cdc42: PH domain-assisted guanine nucleotide exchange.
11756498 2002 Activation of Rac GTPase by p75 is necessary for c-jun N-terminal kinase-mediated apoptosis.
10523665 1999 Dependence of Dbl and Dbs transformation on MEK and NF-kappaB activation.
9205841 1997 Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
7957046 1994 A novel oncogene, ost, encodes a guanine nucleotide exchange factor that potentially links Rho and Rac signaling pathways.