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FLASH GENE
Symbol CALB2 contributors: mct - updated : 03-06-2015
HGNC name calbindin 2, 29kDa (calretinin)
HGNC id 1435
Location 16q22.2      Physical location : 71.392.615 - 71.424.339
Synonym name
  • calretinin
  • 29 kDa calbindin
  • Synonym symbol(s) CAB29, CAL2, CR
    DNA
    TYPE functioning gene
    STRUCTURE 31.73 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1485 - 271 - -
    9 - 1391 - 192 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    Nervousbrainhindbraincerebellum highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
    Visualeyeretina  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • the N-terminal (CR I-II)
  • 6 EF-hand Ca2+ domains
  • C-terminal (CR III-VI) domains
  • HOMOLOGY
    Homologene
    FAMILY
  • calbindin family
  • EF-hand family of calcium-binding proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • vitamin D dependent calcium binding protein 2
  • calcium-binding protein which is abundant in auditory neurons
  • marker of normal and neoplastic Leydig cells of the testis and may be of value in the diagnosis of atypical Leydig cell tumor
  • serves a range of cellular functions including intracellular calcium buffering, messenger targeting, and is involved in processes such as cell cycle arrest, and apoptosis
  • plays a crucial role in the modulation of intrinsic neuronal excitability and the induction of long-term potentiation (LTP)
  • an essential property of calretinin is a delayed equilibration with Ca(2+)
  • involved in regulating excitability and synaptic transmission of granule cells, and its absence leads to impaired motor control
  • CALB1, CALB2, PVALB, regulate presynaptic inner hair cells (IHCs) function for metabolically efficient sound coding
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text calcium
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • vitamin D (dependent calcium) binding
  • preferentially associated with mutant HTT, although it also interacts with wild-type HTT
  • role for CALB2 in directly modulating effectors such as CACNA1A, which may have major consequences for Ca(2+) signaling and neuronal excitability
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the large striatal interneurons of Huntington disease (HD)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • CALB2 and MAP2 are useful diagnostic markers for diagnosing Hirschsprung disease in rectal suction biopsies
  • can serve as a marker of the intermediate olfactory receptor neurons (ORNs)
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativehuntington chorea
    may be a potential therapeutic target for treatment of Hunington disease
    cancerlung 
    highly interesting new putative therapeutic target for mesothelioma treatment of especially the epithelioid, as well as of the mixed and sarcomatoid type
    ANIMAL & CELL MODELS