Property Summary

NCBI Gene PubMed Count 35
PubMed Score 11.37
PubTator Score 15.67

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Degenerative polyarthritis 93
Disease Target Count P-value
lung carcinoma 2844 1.22491109834567E-19
posterior fossa group A ependymoma 1511 5.08672854030332E-18
atypical teratoid/rhabdoid tumor 1095 4.6710785721045E-9
ovarian cancer 8492 2.67389249483175E-8
osteosarcoma 7933 6.0330453161004E-8
malignant mesothelioma 3163 1.06025497820924E-6
pediatric high grade glioma 2712 2.51040538549231E-6
medulloblastoma, large-cell 6234 2.74324431231088E-5
glioblastoma 5572 4.04429870682278E-5
psoriasis 6685 1.44306152075154E-4
pilocytic astrocytoma 3086 0.00211815729376034
group 3 medulloblastoma 2254 0.00511234380720759
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0083434422578271
astrocytic glioma 2241 0.0176417296731002
Disease Target Count Z-score Confidence
Osteoarthritis 96 3.437 1.7
Disease Target Count Z-score Confidence
Cancer 2346 0.0 4.0
Disease Target Count Z-score Confidence
Atypical autism 25 3.634 1.8

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 3.500 0.000
astrocytic glioma -1.100 0.018
posterior fossa group A ependymoma -2.200 0.000
psoriasis -1.500 0.000
osteosarcoma 2.880 0.000
glioblastoma -1.800 0.000
atypical teratoid/rhabdoid tumor -2.200 0.000
medulloblastoma, large-cell -2.200 0.000
intraductal papillary-mucinous carcinoma... 1.200 0.008
pediatric high grade glioma -1.700 0.000
group 3 medulloblastoma -1.200 0.005
pilocytic astrocytoma -1.200 0.002
lung carcinoma 1.800 0.000
ovarian cancer 1.600 0.000

Synonym

Gene

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG
C. elegans OMA EggNOG

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.
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