Property Summary

NCBI Gene PubMed Count 8
Grant Count 4
R01 Count 3
Funding $424,037.4
PubMed Score 14.39
PubTator Score 3.95

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Gene RIF (3)

PMID Text
26116559 The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2.
25719200 These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans.
24906020 This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations.

AA Sequence

MIAAQAKLVYQLNKYYTERCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLSEIDARYEGLEVIS      1 - 70
PTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITASGYLSARKIRSRFQTLVAQAV     71 - 140
DKCSYRDVVKMIADTSEVKLRIRERYVVQITPAFKCTGIWPRSAAQWPMPHIPWPGPNRVAEVKAEGFNL    141 - 210
LSKECYSLTGKQSSAESDAWVLQFGEAENRLLMGGCRNKCLSVLKTLRDRHLELPGQPLNNYHMKTLLLY    211 - 280
ECEKHPRETDWDESCLGDRLNGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALESAAKQTWRLAREIL    281 - 350
TNPKSLDKL                                                                 351 - 359
//

Publication (9)

PMID Year Title
26116559 2015 A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
25719200 2015 Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
25416956 2014 A proteome-scale map of the human interactome network.
24906020 2014 Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10556287 1999 Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development.