Property Summary

NCBI Gene PubMed Count 27
Grant Count 18
R01 Count 11
Funding $1,475,162.58
PubMed Score 25.50
PubTator Score 33.08

Knowledge Summary

Patent

No data available

Expression

Gene RIF (18)

PMID Text
24002165 Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function.
21782786 the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied.
20816175 the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis
19880378 the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex.
19299310 Observational study of gene-disease association. (HuGE Navigator)
19138766 POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation are reported.
18804929 Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy.
18513969 In pomt2 mutation in CMD patient(three out of 5) show cerebellar hypoplasia.
18513969 Observational study of gene-disease association. (HuGE Navigator)
18490429 testis POMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from somatic POMT2
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AA Sequence

MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFA      1 - 70
TRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHS     71 - 140
YMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSM    141 - 210
VKYNSCADRPFSAPWWFWLSLTGVSLAGALGVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLT    211 - 280
ARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRM    281 - 350
AIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS    351 - 420
RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLVTGCVLGSSGK    421 - 490
VLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKD    491 - 560
NEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVA    561 - 630
GLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARG    631 - 700
IHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF                        701 - 750
//

Text Mined References (29)

PMID Year Title
24002165 2014 Novel cardiovascular findings in association with a POMT2 mutation: three siblings with ?-dystroglycanopathy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22958903 2012 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
21782786 2011 Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.
20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
19880378 2010 Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
19138766 POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
18804929 2009 A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
18513969 2008 POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
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