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FLASH GENE
Symbol CRYM contributors: - updated : 03-05-2007
HGNC name crystallin, mu
HGNC id 2418
Corresponding disease
DFNA40 neurosensory deafness 40
Location 16p13.11-p12.3      Physical location : 21.269.838 - 21.314.404
Synonym name
  • NADP-regulated thyroid-hormone binding protein
  • mu-crystallin homolog
  • Synonym symbol(s) THBP
    DNA
    TYPE functioning gene
    STRUCTURE 44.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    GPRC5B 16p12 G protein-coupled receptor, family C, group 5, member B LOC124274 16p13.11 similar to putative G-protein coupled receptor LOC390679 16 similar to sal-like 4 GP2 9q21.11-q21.2 glycoprotein 2 (zymogen granule membrane) UMOD 16p13.11 uromodulin (uromucoid, Tamm-Horsfall glycoprotein) LOC204474 16p13.11 hypothetical protein LOC204474 FLJ20581 16p13.11 hypothetical protein FLJ20581 LOC123876 16p13.11 hypothetical protein LOC123876 LOC348158 16p13.11 xenobiotic/medium-chain fatty acid:CoA ligase BUCS1 16p13;.1 butyryl Coenzyme A synthetase 1 LOC390680 16 similar to Hypothetical protein MGC56918 FLJ20274 16p13.11 hypothetical protein FLJ20274 SAH 16p13.11 SA hypertension-associated homolog (rat) MGC16943 16p13.11 similar to RIKEN cDNA 4933424N09 gene LOC81691 16p13.11 exonuclease NEF-sp MGC48972 16p13.11 hypothetical protein MGC48972 LOC57149 16p11.2 hypothetical protein A-211C6.1 FLJ23558 16p13.11-p12.3 hypothetical protein FLJ23558 DNAH3 16p12 dynein, axonemal, heavy polypeptide 3 LOC57146 16p12 promethin ZP2 16p12.2 zona pellucida glycoprotein 2 (sperm receptor) FLJ38819 16p12.3 hypothetical protein FLJ38819 CRYM 16p13.11-p12.3 crystallin, mu LOC388220 16 LOC388220 LOC92267 16p12.3 similar to FLJ12363 protein LOC388221 16 similar to nuclear pore complex interacting protein LOC388222 16 similar to MGC9515 protein LOC388223 16 similar to KIAA0220 IMAA 16p12 hLAT1-3TM LOC388224 16 similar to carbonic anhydrase VA, mitochondrial precursor; carbonic anhydrase V, mitochondrial; carbonic dehydratase DREV1 16p13-p12 DORA reverse strand protein 1 IGSF6 16p13-p12 immunoglobulin superfamily, member 6 OTOA 16p12.12 otoancorin LOC94431 16p12.3 similar to RNA polymerase I transcription factor RRN3 LOC390681 16 similar to RNA polymerase I transcription factor RRN3 MGC9515 16p12.3 hypothetical protein MGC9515 LOC390682 16 similar to PI-3-kinase-related kinase SMG-1 isoform 1; lambda/iota protein kinase C-interacting protein; phosphatidylinositol 3-kinase-related protein kinase LOC342293 16p12.3 similar to hypothetical protein UQCRC2 16p12.2 ubiquinol-cytochrome c reductase core protein II MGC50721 16p12.3 hypothetical protein MGC50721 LOC146174 16p12.3 hypothetical protein LOC146174 LOC146177 16p12.3 hypothetical protein LOC146177 LOC390683 16 similar to NAD(P) dependent steroid dehydrogenase-like EEF2K 16p12.1-q12.2 similar to NAD(P) dependent steroid dehydrogenase-like RPC5 16p12.3 RNA polymerase III 80 kDa subunit RPC5 CDR2 16p12.2 cerebellar degeneration-related protein 2, 62kDa LOC390684 16 similar to RRN3 LOC283846 16p12.3 PI-3-kinase-related kinase SMG-1-like LOC388225 16 similar to MGC9515 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1303 33.8 314 - Abe
    - - 1255 29.4 272 - Abe
    supplementary 5" exon, shorter N ermnus
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnervestibule  
     earinnercochlea  
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    Muscularstriatumskeletal  
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    ODC_Mu_crystall domain
    HOMOLOGY
    interspecies homolog to murine Crym
    Homologene
    FAMILY ornithine cyclodeaminase/mu-crystallin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in normal auditory function
  • involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptor
  • contributing to the refractive index and transparency of lens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA40
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS