Property Summary

NCBI Gene PubMed Count 23
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 5.5e-08
astrocytic glioma -1.200 4.9e-02
psoriasis -1.400 6.0e-03
osteosarcoma -1.799 4.7e-06
glioblastoma -1.300 7.0e-03
medulloblastoma, large-cell -1.900 1.3e-04
adult high grade glioma -1.100 1.8e-02
ovarian cancer -2.200 2.2e-11
chronic rhinosinusitis -1.173 3.6e-02

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.
19268277 2009 Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12736779 2003 A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
9799089 1998 A novel locus for Leber congenital amaurosis on chromosome 14q24.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.