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FLASH GENE
Symbol LMBR1 contributors: mct - updated : 09-06-2006
HGNC name limb region 1 homolog (mouse)
HGNC id 13243
Corresponding disease
ACHP acheiropodia
PPD2 preaxial polydactyly type II
Location 7q36.3      Physical location : 156.473.570 - 156.685.902
Synonym name
  • differentiation-related gene 14 protein
  • chromosome 7 open reading frame 2
    • Synonym symbol(s) C7orf2, FLJ11665, DIF14
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping
    STRUCTURE 212.33 kb     17 Exon(s)
    regulatory sequence
    text structure intron 5 of LMBR1 contains a cis-acting regulator of limb-specific Sonic Hedgehog (SHH), a regulatory sequence ZRS of SHH driving spatiotemporal expression pattern in tetrapods, located 1Mb from SHH, into intron 5 of C7orf2 (LMBR1)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 4909 - 490 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine transmembrane segments
  • a coiled coil domain
    • HOMOLOGY
    interspecies homolog to FUGU (AF056116) proteins
    homolog to C.elegans P35535
    homolog to murine Lmbr1
    homolog to Lmbr1
    ortholog to murine Mmbr1 limb region 1
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • putative upstream regulator of SHH
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACHP , PPD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene putative candidate gene for ACPTS
    Marker
    Therapy target
    ANIMAL & CELL MODELS