Property Summary

NCBI Gene PubMed Count 18
Grant Count 2
R01 Count 2
Funding $332,684.5
PubMed Score 18.89
PubTator Score 17.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
ependymoma -1.400 0.000
glioblastoma -1.500 0.000
group 3 medulloblastoma -1.300 0.036
atypical teratoid / rhabdoid tumor -1.500 0.000
primitive neuroectodermal tumor -1.500 0.001
pediatric high grade glioma -1.300 0.000
pilocytic astrocytoma -1.300 0.000

Gene RIF (7)

PMID Text
25085631 IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families.
23993198 IMPG1 mutations cause both autosomal-dominant and -recessive forms of vitelliform macular dystrophies.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
16354621 Our results indicate that neither EEF1A1 nor IMPG1 could be responsible for RP25 in the studied families due to absence of any pathogenic variants.
14691150 A Leu579Pro mutation in the IMPG1 gene may play a causal role in benign concentric annular macular dystrophy (BCAMD).
10601738 The gene product of IMPG1 (designated IPM 150) is a member of a group of neuronal proteoglycans and/ or glycoproteins suspected to be essential in retinal adhesion and photoreceptor cell survival.

AA Sequence

MYLETRRAIFVFWIFLQVQGTKDISINIYHSETKDIDNPPRNETTESTEKMYKMSTMRRIFDLAKHRTKR      1 - 70
SAFFPTGVKVCPQESMKQILDSLQAYYRLRVCQEAVWEAYRIFLDRIPDTGEYQDWVSICQQETFCLFDI     71 - 140
GKNFSNSQEHLDLLQQRIKQRSFPDRKDEISAEKTLGEPGETIVISTDVANVSLGPFPLTPDDTLLNEIL    141 - 210
DNTLNDTKMPTTERETEFAVLEEQRVELSVSLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGF    211 - 280
KKIHVLGFRPKKEKDGSSSTEMQLTAIFKRHSAEAKSPASDLLSFDSNKIESEEVYHGTMEEDKQPEIYL    281 - 350
TATDLKRLISKALEEEQSLDVGTIQFTDEIAGSLPAFGPDTQSELPTSFAVITEDATLSPELPPVEPQLE    351 - 420
TVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQTMLVPGLTIPTSDYSAIS    421 - 490
QLALGISHPPASSDDSRSSAGGEDMVRHLDEMDLSDTPAPSEVPELSEYVSVPDHFLEDTTPVSALQYIT    491 - 560
TSSMTIAPKGRELVVFFSLRVANMAFSNDLFNKSSLEYRALEQQFTQLLVPYLRSNLTGFKQLEILNFRN    561 - 630
GSVIVNSKMKFAKSVPYNLTKAVHGVLEDFRSAAAQQLHLEIDSYSLNIEPADQADPCKFLACGEFAQCV    631 - 700
KNERTEEAECRCKPGYDSQGSLDGLEPGLCGPGTKECEVLQGKGAPCRLPDHSENQAYKTSVKKFQNQQN    701 - 770
NKVISKRNSELLTVEYEEFNHQDWEGN                                               771 - 797
//

Text Mined References (19)

PMID Year Title
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25085631 2014 Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
23993198 2013 Mutations in IMPG1 cause vitelliform macular dystrophies.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
16354621 2005 Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14691150 2004 The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
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