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FLASH GENE
Symbol MAB21L2 contributors: mct - updated : 19-06-2014
HGNC name mab-21-like 2 (C. elegans)
HGNC id 6758
Corresponding disease
CLBMS3 colobomatous microphthalmia syndromic3
Location 4q31.3      Physical location : 151.503.076 - 151.505.843
Synonym symbol(s) FLJ31103
DNA
TYPE functioning gene
STRUCTURE 2.77 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2785 - 359 - Mariani (1999)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth     Homo sapiensFetal
Skeleton      Homo sapiensFetal
Visualeye     Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
Text strong expression in the developing eye, pharyngeal arches, and limb bud
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to C.elegans mab-21-like 2
Homologene
FAMILY
CATEGORY RNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • may be involved in neural development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA bound single-stranded RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLBMS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous targeted inactivation of Mab21l2 in mouse embryos causes defects of the ventral body wall, severe eye malformations, and death in midgestation, whereas heterozygous null animals are apparently normal (PMID;