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FLASH GENE
Symbol CABP2 contributors: mct - updated : 17-11-2012
HGNC name calcium binding protein 2
HGNC id 1385
Corresponding disease
DFNB93 deafness, autosomal recessive 93
Location 11q13.1      Physical location : 67.286.417 - 67.290.899
Synonym symbol(s) CAB2
DNA
TYPE functioning gene
STRUCTURE 4.48 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif Viral sequence   long terminal repeat
text structure specific HERV-K LTR within intron 3
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 splicing 9857 - 220 - 2000 10625670
- splicing 815 - 163 - 2000 10625670
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinner    Homo sapiens
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • only three functional Ca2+-binding EF-hand domains (EF hands 1, 3, and 4) because EF hand 2 contains a 3 AA deletion that would inhibit Ca2+ binding
  • three thioredoxin boxes (Cys-Gly-His-Cys)
  • consensus sequence for N-myristiolation with multiple spliced variants
  • HOMOLOGY
    interspecies homolog to Cabp2
    intraspecies homolog to calmodulin
    Homologene
    FAMILY
  • calcium binding protein subfamily
  • protein disulphide-isomerase (PDI) family
  • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • may be involved in the folding of nascent proteins
  • both CABP2 and CABP1 may promote oxidative folding by different kinetic pathways
  • role in the mammalian auditory system
  • might be required for normal hearing through roles in other cell types besides inner hair cells
  • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of calcium mediated cellular signal transduction
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • calcium ion binding
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB93
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS