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FLASH GENE
Symbol PVALB contributors: mct - updated : 03-06-2015
HGNC name parvalbumin
HGNC id 9704
Location 22q12.3      Physical location : 37.196.745 - 37.215.517
Synonym name parvalbumin alpha
Synonym symbol(s) D22S749, MGC116759
DNA
TYPE functioning gene
STRUCTURE 18.77 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
RPL41P3 22q13.1 ribosomal protein L41, pseudogene 3 NDUFA9P1 22q12.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 APOL3 22q13.1 apolipoprotein L, 3 APOL4 22q13.1 apolipoprotein L, 4 APOL2 22q13.1 apolipoprotein L, 2 APOL1 22q13.1 apolipoprotein L, 1 MYH9 22q13.1 myosin, heavy polypeptide 9, non-muscle LOC388898 22 LOC388898 TXN2 22q13.1 thioredoxin 2 FLJ23322 22q13.1 hypothetical protein FLJ23322 EIF3S7 22q13.1 eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa CACNG2 22q13.1 calcium channel, voltage-dependent, gamma subunit 2 RABL4 22q13.1 RAB, member of RAS oncogene family-like 4 PVALB 22q13.1 parvalbumin NCF4 22q13.1 neutrophil cytosolic factor 4, 40kDa CSF2RB 22q13.1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) CSF2RB2 22q13.1 colony stimulating factor 2 receptor, beta, 2 MGC35206 22q13.1 hypothetical protein MGC35206 TST 22q13.1 thiosulfate sulfurtransferase (rhodanese) MPST 22q13.1 mercaptopyruvate sulfurtransferase FLJ12242 22q13.1 hypothetical protein FLJ12242 TMPRSS6 22q13.1 transmembrane serine protease 6 IL2RB 22q13.1 interleukin 2 receptor, beta C1QTNF6 22q13.1 C1q and tumor necrosis factor related protein 6 SSTR3 22q13.1 somatostatin receptor 3 RAC2 22q13.1 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) PSCD4 22q13.1 pleckstrin homology, Sec7 and coiled-coil domains 4 KIAA1904 22q13.1 KIAA1904 protein MFNG 22q13.1 manic fringe homolog (Drosophila) CARD10 22q13 caspase recruitment domain family, member 10 CDC42EP1 22q13.1 CDC42 effector protein (Rho GTPase binding) 1 LGALS2 22q13.1 lectin, galactoside-binding, soluble, 2 (galectin 2) GGA1 22q13.31 golgi associated, gamma adaptin ear containing, ARF binding protein 1 SH3BP1 22q13.1 SH3-domain binding protein 1 PLP
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 586 - 110 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebraincerebral cortex lowly Homo sapiens
Urinarykidneytubuleconvoluted tubuledistal tubulelowly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Pva
homolog to C.elegans F36H12.16
Homologene
FAMILY
  • parvalbumin family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in muscle relaxation
  • its expression levels could influence GABA synthesis
  • skeletal muscle Ca(2+) binding protein, that facilitate myocardial relaxation
  • acts as a unique "delayed" Ca(2+) buffer and facilitates Ca(2+) sequestration from cytosol
  • Ca(2+) buffer and Ca(2+) transporter/shuttle protein that may also play an additional role in Mg(2+) handling
  • cortical GABAergic interneurons expresses PVALB and plays a critical role in the control of pyramidal neuron excitability and the generation of cortical gamma frequency oscillations
  • PVALB-interneurons mediate neuronal circuitry-neurogenesis coupling in the adult hippocampus
  • CALB1, CALB2, PVALB, regulate presynaptic inner hair cells (IHCs) function for metabolically efficient sound coding
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text muscle development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for Gitelman's syndrome for SLC12A3-negative cases (Riviera-Munoz 2008)
    Marker
    Therapy target
    ANIMAL & CELL MODELS