Property Summary

NCBI Gene PubMed Count 27
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
17923109 identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype
17878207 Observational study of genotype prevalence. (HuGE Navigator)
17634419 Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement.
16887026 Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes.
16698797 human protein O-mannosyltransferases 1 and 2 form heterocomplexes which possess protein O-mannosyltransferase activity
15894594 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome [case reports]
14699049 active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain
12460945 molecular cloning and characterization

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.
18490429 2008 POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17923109 2007 POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17634419 2007 New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
16887026 2006 Walker-Warburg syndrome.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16701995 2006 POMT2 mutation in a patient with 'MEB-like' phenotype.
16698797 2006 Physical and functional association of human protein O-mannosyltransferases 1 and 2.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
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.
14699049 2004 Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
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.
12460945 2002 Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.
11162531 2001 Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.