Property Summary

NCBI Gene PubMed Count 23
Grant Count 14
R01 Count 10
Funding $2,707,227.3
PubMed Score 9.13
PubTator Score 18.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -3.600 0.000
astrocytic glioma -1.200 0.049
psoriasis -1.400 0.006
osteosarcoma -1.799 0.000
glioblastoma -1.300 0.007
medulloblastoma, large-cell -1.900 0.000
adult high grade glioma -1.100 0.018
ovarian cancer -2.200 0.000
chronic rhinosinusitis -1.173 0.036

Gene RIF (8)

PMID Text
25814828 A novel homozygous large deletion in SPATA7 associated with juvenile retinitis pigmentosa has been found in a consanguineous Israeli Muslim Arab family.
25398945 SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients
22219627 Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly.
22136677 In conclusion, our data established the first linkage association of a loss-of-function mutation in the SPATA7 gene with a typical retinitis pigmentosa (RP) phenotype and not with leber congenital amaurosis or early onset RP.
21310915 Mutations in SPATA7 are a rare cause of childhood retinal dystrophy accounting for 1.7% of disease in this cohort.
20104588 analysis of the SPATA7 mutations in Leber congenital amaurosis and the associated phenotype
19268277 Spata7 is expressed in the mature mouse retina.
12736779 isolation and characterization of HSD-3.1 expressed in the testis

AA Sequence

MDGSRRVRATSVLPRYGPPCLFKGHLSTKSNAFCTDSSSLRLSTLQLVKNHMAVHYNKILSAKAAVDCSV      1 - 70
PVSVSTSIKYADQQRREKLKKELAQCEKEFKLTKTAMRANYKNNSKSLFNTLQKPSGEPQIEDDMLKEEM     71 - 140
NGFSSFARSLVPSSERLHLSLHKSSKVITNGPEKNSSSSPSSVDYAASGPRKLSSGALYGRRPRSTFPNS    141 - 210
HRFQLVISKAPSGDLLDKHSELFSNKQLPFTPRTLKTEAKSFLSQYRYYTPAKRKKDFTDQRIEAETQTE    211 - 280
LSFKSELGTAETKNMTDSEMNIKQASNCVTYDAKEKIAPLPLEGHDSTWDEIKDDALQHSSPRAMCQYSL    281 - 350
KPPSTRKIYSDEEELLYLSFIEDVTDEILKLGLFSNRFLERLFERHIKQNKHLEEEKMRHLLHVLKVDLG    351 - 420
CTSEENSVKQNDVDMLNVFDFEKAGNSEPNELKNESEVTIQQERQQYQKALDMLLSAPKDENEIFPSPTE    421 - 490
FFMPIYKSKHSEGVIIQQVNDETNLETSTLDENHPSISDSLTDRETSVNVIEGDSDPEKVEISNGLCGLN    491 - 560
TSPSQSVQFSSVKGDNNHDMELSTLKIMEMSIEDCPLDV                                   561 - 599
//

Text Mined References (23)

PMID Year Title
26167768 2015 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
25814828 2015 Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
25398945 2015 Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
22219627 2011 Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
22136677 2011 Late onset retinitis pigmentosa.
21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
21310915 2011 Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
21130836 2011 Whole genome association scan for genetic polymorphisms influencing information processing speed.
20104588 2010 Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
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