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FLASH GENE
Symbol TMEM67 contributors: mct/pgu - updated : 30-09-2013
HGNC name transmembrane protein 67
HGNC id 28396
Corresponding disease
COACH3 COACH syndrome 3
JBTS6 Joubert syndrome 6
MKS3 Meckel-Gruber syndrome, type 3
NPHP11 nephronophthisis 11
Location 8q22.1      Physical location : 94.767.071 - 94.831.458
Synonym name
  • meckelin
  • Meckel syndrome type 3 protein
  • Synonym symbol(s) MGC26979, MKS3
    DNA
    TYPE functioning gene
    STRUCTURE 63.27 kb     29 Exon(s)
    regulatory sequence Promoter
    text structure promoter sequence contains an X-box motif, a sequence known to be involved in the regulation of primary ciliary genes in C. elegans
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4744 - 995 - 2002 12384791
    29 - 4675 - 914 - 2002 12384791
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivegallbladder    
    Reproductivemale systemtestis  highly
    Urinarykidneytubuleconvoluted tubuleproximal tubule 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretoryrenal tubular epithelium  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in the cartilage of developing limbs, in large intrahepatic bile ducts (Fig. 1G and I) and in the outer layer of the developing retina particularly in the digits, the cartilaginous cervical vertebrae, the bronchioles of the lung, intestine, stomach and kidney, in large intrahepatic bile ducts and in the outer layer of the developing retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal extracellular domain of meckelin is particularly rich in cysteine residues
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text localized both to the primary cilium and to the plasma membrane in ciliated cell-lines and primary cells
    basic FUNCTION
  • mediating a fundamental developmental stage of ciliary formation and epithelial morphogenesis
  • implicated in mediating primary ciliary function
  • possible role for the extracellular domain of meckelin in mediating intracellular transport from the ER
  • required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication
  • is required for endoplasmic reticulum-associated degradation of surfactant protein C
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • important role for meckelin in intraciliary transport of phototransduction molecules and their effects on subsequent outer segment morphogenesis and maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component formed a complex with Meckelin (TMEM67)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ER lumenal domain of MKS3 interacted with a complex that included mutant SFTPC and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic VCP
  • interacting with MKS1, a soluble protein
  • TMEM67 forms a functional complex with FLNA that is disrupted in MKS3 and causes defects in neuronal migration and Wnt signalling
  • cell & other
    REGULATION
    Other up-regulated by ER stress
    ASSOCIATED DISORDERS
    corresponding disease(s) MKS3 , JBTS6 , NPHP11 , COACH3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS