Property Summary

NCBI Gene PubMed Count 24
PubMed Score 32.73
PubTator Score 22.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytic glioma -1.200 3.2e-03
osteosarcoma 1.992 5.2e-03
cystic fibrosis -1.400 6.6e-04
atypical teratoid/rhabdoid tumor 2.600 3.1e-09
non-small cell lung cancer -1.470 7.1e-12
intraductal papillary-mucinous adenoma (... 1.500 7.1e-03
intraductal papillary-mucinous carcinoma... 1.800 2.4e-03
intraductal papillary-mucinous neoplasm ... 2.200 5.9e-03
pancreatic cancer 1.200 1.8e-04
breast carcinoma 1.300 2.8e-02
fibroadenoma 2.000 4.9e-02
Breast cancer 2.200 4.8e-02
group 3 medulloblastoma 2.100 2.2e-03
pilocytic astrocytoma -1.600 8.9e-04
psoriasis -1.100 9.5e-08
ductal carcinoma in situ 1.700 2.6e-02
ovarian cancer 1.700 3.4e-04

Pathway (1)

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)
19430482 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

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
//

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.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20700443 2010 Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
20636464 2010 Identification of interacting genes in genome-wide association studies using a model-based two-stage approach.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
20383145 2010 Genetic loci influencing kidney function and chronic kidney disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20222955 2010 A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
20208534 2010 Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19740415 2009 Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis.
19430482 2009 Multiple loci associated with indices of renal function and chronic kidney disease.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
16615870 2006 A new standard nomenclature for proteins related to Apx and Shroom.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14760703 2004 Proteomic identification of brain proteins that interact with dynein light chain LC8.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10819331 2000 Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10767323 2000 Mouse models for neural tube closure defects.
10589677 1999 Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice.
9847074 1998 Toward a complete human genome sequence.