Property Summary

NCBI Gene PubMed Count 18
Grant Count 2
Funding $60,000
PubMed Score 11.06
PubTator Score 13.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytic glioma -1.200 0.008
glioblastoma 2.800 0.000
ependymoma 1.100 0.037
atypical teratoid / rhabdoid tumor 3.300 0.001
primitive neuroectodermal tumor 1.700 0.049
Amyotrophic Lateral Sclerosis 1.068 0.000
Breast cancer 2.300 0.042
interstitial cystitis -3.000 0.000
lung adenocarcinoma -1.700 0.000
pediatric high grade glioma 2.300 0.000
group 3 medulloblastoma 3.000 0.000
pilocytic astrocytoma 3.200 0.000
Endometriosis -1.849 0.015
lung carcinoma -3.100 0.000
head and neck cancer -1.100 0.036
psoriasis -1.600 0.000

Synonym

Gene

PANTHER Protein Class (2)

 Grant Application (2)

Pathway (1)

Gene RIF (5)

PMID Text
24700879 In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
22538188 Amplification of the FREM2 gene is associated with mesenchymal differentiation in gliosarcoma.
21900877 Heterozygous missense mutations in FREM2 cause non-syndromic congenital abnormalities of the kidney and urinary tract in humans.
18671281 1 new mutation in FREM2 was identified in families with Fraser syndrome.
18203166 report on 2 fetuses affected by Fraser syndrome (FS); a homozygous IVS14 + 1G -- A mutation in FREM2 was indentified; present report provides additional evidence that FS may be caused by complete or near-complete lack or loss of function of FREM2 protein

AA Sequence

MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGLAGAAGVPAEE      1 - 70
AIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPGRLSPKRFPCDFGPGEVRYSH     71 - 140
LGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLEVVTRNLPLVVEELLGTSNALDARSLEFAFQ    141 - 210
PETEECRVGILSGLGALPRYGELLHYPQVPGGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWI    211 - 280
PMVVELRSRGAPVGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAES    281 - 350
PSDLLIFNLTSPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDLEGA    351 - 420
ASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVRLEVVAGLRHG    421 - 490
HLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDGGGRHQVQFLFPITLVPVDDQP    491 - 560
PVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVLESPFLTTGHLLLRQTHPPHEKQELLRGLWR    561 - 630
KEGAFYERTVTEWQQQDITEGRLFYRHSGPHSPGPVTDQFTFRVQDNHDPPNQSGLQRFVIRIHPVDRLP    631 - 700
PELGSGCPLRMVVQESQLTPLRKKWLRYTDLDTDDRELRYTVTQSPTDTDENHLPAPLGTLVLTDNPSVV    701 - 770
VTHFTQAQINHHKIAYRPPGQELGVATRVAQFQFQVEDRAGNVAPGTFTLYLHPVDNQPPEILNTGFTIQ    771 - 840
EKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRVSYAHNGDKSL    841 - 910
TDSCSLEVSDRHHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENGATEITANVIKGTNEETDDLM    911 - 980
LTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTSGEIGLLPKADSFNLSLSDMSQEWRIGGNTI    981 - 1050
QGVTIWVTILPVDSQAPEIFVGEQLIVMEGDKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISP   1051 - 1120
APGSEKSRAGIAISAFNLKDLRQGHINYVQSVHKGVEPVEDRFVFRCSDGINFSERQFFPIVIIPTNDEQ   1121 - 1190
PEMFMREFMVMEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIES   1191 - 1260
SSIIYEHDDSETQEDSFVIKLTDGKHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTKIINNKILMAT   1261 - 1330
DLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLIQYVHLGQEGIRDLIKFDVTD   1331 - 1400
GINPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLE   1401 - 1470
CTDQPGVSITSFTQLQLAGNKIYYIHTADDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHK   1471 - 1540
LVVSESENKLITPFELTVEDRDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTE   1541 - 1610
SSEDSFSFTVTDGTHTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMIT   1611 - 1680
SKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGANATSDMFYFA   1681 - 1750
VEDGGGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGETSFISIGTRDRTAEKDKDFKG   1751 - 1820
KAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLSEPVLAALEFPTVATVEIVDPGDEPTVFIPQSK   1821 - 1890
YSVEEDVGELFIPIRRSGDVSQELMVVCYTQQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKL   1891 - 1960
CRIVIIDDSLYEEEETFHVLLSMPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQV   1961 - 2030
WRTGTDLSKSSSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFEL   2031 - 2100
VLRMPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRSSVRCYTRQGS   2101 - 2170
AQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLGTPQSNSPFGAAVGEQNETLI   2171 - 2240
RIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEI   2241 - 2310
EFKEGETQHVVEIEVTFDGVREMREAFTVHLKPDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSL   2311 - 2380
LMYDDTSKAKESAEPMSGYPVICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPM   2381 - 2450
REVDFDTFFTSSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAE   2451 - 2520
PFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKCSNLLDYTEVK   2521 - 2590
THYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFVSYYDMSELLADCGGTIGTDG   2591 - 2660
QVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSELRLTFVYDTAILWNDGIGSPPEAELQGSLYP   2661 - 2730
TSMRIGDEGRLAVHFKTEAQFHGLFVLSHPASFTSSVIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVS   2731 - 2800
DFAVRDYSGTYTVKLVPCTAPSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKS   2801 - 2870
LWLSDGSMGFGQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPMNAEYGCL   2871 - 2940
ADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPLFQVALGREWY   2941 - 3010
IHTIYTVRSKDNANRGIGKRSVEYHSLVSQGKPQSTTKSRKKREIRSTPSLAWEIGAENSRGTNIQHIAL   3011 - 3080
DRTKRQIPHGRAPPDGILPWELNSPSSAVSLVTVVGGTTVGLLTICLTVIAVLMCRGKESFRGKDAPKGS   3081 - 3150
SSSEPMVPPQSHHNDSSEV                                                      3151 - 3169
//

Text Mined References (19)

PMID Year Title
24700879 2014 Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22538188 2012 Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma.
22031191 2011 Differential gene expression in the adrenals of normal and anencephalic fetuses and studies focused on the Fras-1-related extracellular matrix protein (FREM2) gene.
21993531 2012 Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
21900877 2012 Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
18671281 2008 Molecular study of 33 families with Fraser syndrome new data and mutation review.
18203166 2008 Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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