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FLASH GENE
Symbol CNNM4 contributors: mct - updated : 28-12-2016
HGNC name cyclin M4
HGNC id 105
Corresponding disease
CRDAI cone rod dystrophy of the retina with amelogenesis imperfecta
Location 2q11.2      Physical location : 97.426.638 - 97.477.626
Synonym name ancient conserved domain protein 4
Synonym symbol(s) ACDP4, KIAA1592, FLJ42791
DNA
TYPE functioning gene
STRUCTURE 51.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 4814 - 775 - 2003 12657465
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousspinal cord     Homo sapiens
Urinarykidneytubuleconvoluted tubuleproximal tubule  Other species
Visualeyeretina    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveameloblast Homo sapiens
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text developing tooth
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two conserved CBS forming a stable globular domain
  • four transmembrane domains
  • a sequence motif present in cyclin box
  • a cyclic nucleotide-monophosphate (cNMP)-binding domain
  • two cystathionine-beta-synthase (CBS) domains
  • a DUF21 domain
  • an ancient conserved domain” that is evolutionarily conserved in species (Polok 2008)
  • HOMOLOGY
    Homologene
    FAMILY
  • ACDP family
  • CATEGORY regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    text located on or close to the plasma membrane
    basic FUNCTION
  • implicated in metal ion transport
  • involved in the maturation of amelogenin
  • having a role in metal transport in biomineralization, wherein the protein could remove unwanted ions, such as magnesium, that are known to interfere with crystal formation in enamel
  • CELLULAR PROCESS cell cycle, division, mitosis
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with cytochrome oxydase 11 (COX11) to regulate metal ion homeostasis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRDAI
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS