Property Summary

NCBI Gene PubMed Count 24
Grant Count 24
R01 Count 22
Funding $2,747,313.33
PubMed Score 32.73
PubTator Score 22.57

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
25805808 Two protein-truncating de novo mutations in two independent cases in SHROOM3 strongly implicates this protein in severe human neural tube defects.
25437874 The SNP rs17319721 functions as a cis-acting expression quantitative trait locus of SHROOM3 that facilitates TGF-B1 signaling and contributes to allograft injury.
25273069 variants disrupting the actin-binding domain of SHROOM3 may cause podocyte effacement and impairment of the glomerular filtration barrier
23586973 RESULTS: rs1260326 in GCKR (beta=1.30, P = 3.23E-03), rs17319721 in SHROOM3 (beta = -1.28, P-value = 3.18E-03) and rs12917707 in UMOD (beta = 2.0, P-value = 8.84E-04) were significantly associated with baseline estimated GFR
21936905 A recessive missense mutation in SHROOM3 is associated with heterotaxy syndrome.
20700443 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20636464 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20222955 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19740415 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
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AA Sequence

MMRTTEDFHKPSATLNSNTATKGRYIYLEAFLEGGAPWGFTLKGGLEHGEPLIISKVEEGGKADTLSSKL      1 - 70
QAGDEVVHINEVTLSSSRKEAVSLVKGSYKTLRLVVRRDVCTDPGHADTGASNFVSPEHLTSGPQHRKAA     71 - 140
WSGGVKLRLKHRRSEPAGRPHSWHTTKSGEKQPDASMMQISQGMIGPPWHQSYHSSSSTSDLSNYDHAYL    141 - 210
RRSPDQCSSQGSMESLEPSGAYPPCHLSPAKSTGSIDQLSHFHNKRDSAYSSFSTSSSILEYPHPGISGR    211 - 280
ERSGSMDNTSARGGLLEGMRQADIRYVKTVYDTRRGVSAEYEVNSSALLLQGREARASANGQGYDKWSNI    281 - 350
PRGKGVPPPSWSQQCPSSLETATDNLPPKVGAPLPPARSDSYAAFRHRERPSSWSSLDQKRLCRPQANSL    351 - 420
GSLKSPFIEEQLHTVLEKSPENSPPVKPKHNYTQKAQPGQPLLPTSIYPVPSLEPHFAQVPQPSVSSNGM    421 - 490
LYPALAKESGYIAPQGACNKMATIDENGNQNGSGRPGFAFCQPLEHDLLSPVEKKPEATAKYVPSKVHFC    491 - 560
SVPENEEDASLKRHLTPPQGNSPHSNERKSTHSNKPSSHPHSLKCPQAQAWQAGEDKRSSRLSEPWEGDF    561 - 630
QEDHNANLWRRLEREGLGQSLSGNFGKTKSAFSSLQNIPESLRRHSSLELGRGTQEGYPGGRPTCAVNTK    631 - 700
AEDPGRKAAPDLGSHLDRQVSYPRPEGRTGASASFNSTDPSPEEPPAPSHPHTSSLGRRGPGPGSASALQ    701 - 770
GFQYGKPHCSVLEKVSKFEQREQGSQRPSVGGSGFGHNYRPHRTVSTSSTSGNDFEETKAHIRFSESAEP    771 - 840
LGNGEQHFKNGELKLEEASRQPCGQQLSGGASDSGRGPQRPDARLLRSQSTFQLSSEPEREPEWRDRPGS    841 - 910
PESPLLDAPFSRAYRNSIKDAQSRVLGATSFRRRDLELGAPVASRSWRPRPSSAHVGLRSPEASASASPH    911 - 980
TPRERHSVTPAEGDLARPVPPAARRGARRRLTPEQKKRSYSEPEKMNEVGIVEEAEPAPLGPQRNGMRFP    981 - 1050
ESSVADRRRLFERDGKACSTLSLSGPELKQFQQSALADYIQRKTGKRPTSAAGCSLQEPGPLRERAQSAY   1051 - 1120
LQPGPAALEGSGLASASSLSSLREPSLQPRREATLLPATVAETQQAPRDRSSSFAGGRRLGERRRGDLLS   1121 - 1190
GANGGTRGTQRGDETPREPSSWGARAGKSMSAEDLLERSDVLAGPVHVRSRSSPATADKRQDVLLGQDSG   1191 - 1260
FGLVKDPCYLAGPGSRSLSCSERGQEEMLPLFHHLTPRWGGSGCKAIGDSSVPSECPGTLDHQRQASRTP   1261 - 1330
CPRPPLAGTQGLVTDTRAAPLTPIGTPLPSAIPSGYCSQDGQTGRQPLPPYTPAMMHRSNGHTLTQPPGP   1331 - 1400
RGCEGDGPEHGVEEGTRKRVSLPQWPPPSRAKWAHAAREDSLPEESSAPDFANLKHYQKQQSLPSLCSTS   1401 - 1470
DPDTPLGAPSTPGRISLRISESVLRDSPPPHEDYEDEVFVRDPHPKATSSPTFEPLPPPPPPPPSQETPV   1471 - 1540
YSMDDFPPPPPHTVCEAQLDSEDPEGPRPSFNKLSKVTIARERHMPGAAHVVGSQTLASRLQTSIKGSEA   1541 - 1610
ESTPPSFMSVHAQLAGSLGGQPAPIQTQSLSHDPVSGTQGLEKKVSPDPQKSSEDIRTEALAKEIVHQDK   1611 - 1680
SLADILDPDSRLKTTMDLMEGLFPRDVNLLKENSVKRKAIQRTVSSSGCEGKRNEDKEAVSMLVNCPAYY   1681 - 1750
SVSAPKAELLNKIKEMPAEVNEEEEQADVNEKKAELIGSLTHKLETLQEAKGSLLTDIKLNNALGEEVEA   1751 - 1820
LISELCKPNEFDKYRMFIGDLDKVVNLLLSLSGRLARVENVLSGLGEDASNEERSSLYEKRKILAGQHED   1821 - 1890
ARELKENLDRRERVVLGILANYLSEEQLQDYQHFVKMKSTLLIEQRKLDDKIKLGQEQVKCLLESLPSDF   1891 - 1960
IPKAGALALPPNLTSEPIPAGGCTFSGIFPTLTSPL                                     1961 - 1996
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Text Mined References (34)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25805808 2015 Loss-of-function de novo mutations play an important role in severe human neural tube defects.
25437874 2015 Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis.
25273069 2015 Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23586973 2013 Investigation of known estimated glomerular filtration rate loci in patients with type 2 diabetes.
23535967 2013 Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
21936905 2011 SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
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