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PVALB Gene

protein-coding   GIFtS: 59
GCID: GC22M037196

Parvalbumin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
parvalbumin1 2
D22S7492
Parvalbumin Alpha2

External Ids:    HGNC: 97041   Entrez Gene: 58162   Ensembl: ENSG000001003627   OMIM: 1688905   UniProtKB: P204723   
ORGUL members:         

Export aliases for PVALB gene to outside databases

Previous GC identifers: GC22M033811 GC22M035439 GC22M035521 GC22M020159


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PVALB Gene:
The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and
functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle
relaxation. (provided by RefSeq, Jul 2008)

GeneCards Summary for PVALB Gene:
PVALB (parvalbumin) is a protein-coding gene. Diseases associated with PVALB include breast fibrosarcoma, and subcortical band heterotopia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is OCM2.

UniProtKB/Swiss-Prot: PRVA_HUMAN, P20472
Function: In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium
ions




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NT_187631.1  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PVALB gene promoter:
         Pax-5   AML1a   Lmo2   XBP-1   IRF-1   AP-4   Nkx2-5   E47   MZF-1   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPVALB promoter sequence
   Search Chromatin IP Primers for PVALB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PVALB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

PVALB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PVALB gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M037196:  view genomic region     (about GC identifiers)

Start:
37,196,728 bp from pter      End:
37,215,523 bp from pter
Size:
18,796 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PRVA_HUMAN, P20472 (See protein sequence)
Recommended Name: Parvalbumin alpha  
Size: 110 amino acids; 12059 Da
Mass spectrometry: Mass=11927; Mass_error=0.76; Method=Electrospray; Range=2-110; Source=PubMed:10036163;
2 PDB 3D structures from and Proteopedia for PVALB:
1RJV (3D)        1RK9 (3D)    
Secondary accessions: B2R4H7 P78378 Q4VB78 Q5R3Q9

Explore the universe of human proteins at neXtProt for PVALB: NX_P20472

Explore proteomics data for PVALB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PVALB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002845.1  
    ENSEMBL proteins: 
     ENSP00000400247   ENSP00000216200   ENSP00000384735   ENSP00000386089   ENSP00000406977  

    PVALB Human Recombinant Protein Products:

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    Novus Biologicals PVALB Proteins
    Novus Biologicals PVALB Lysate
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    Browse Sino Biological Cell Lysates
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    PVALB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PVALB
    R&D Systems Antibodies for PVALB (Parvalbumin alpha)
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    LSBio Antibodies in human, mouse, rat for PVALB

    PVALB Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PVALB
    Cloud-Clone Corp. CLIAs for PVALB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR008080 Parvalbumin
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P20472

    ProtoNet protein and cluster: P20472

    1 Blocks protein domain: IPB008080 Parvalbumin signature

    UniProtKB/Swiss-Prot: PRVA_HUMAN, P20472
    Similarity: Belongs to the parvalbumin family
    Similarity: Contains 2 EF-hand domains


    PVALB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRVA_HUMAN, P20472
    Function: In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium
    ions

         Genatlas biochemistry entry for PVALB:
    parvalbumin,high affinity calcium binding protein,in muscle fibers IIB and GABAergic cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    PVALB for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PVALB:
     Increased G1 DNA content  Increased cell number in G2M,   Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Pvalb):
     behavior/neurological  cellular  muscle  nervous system  no phenotypic analysis 
     normal 

    PVALB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pvalbtm1Swal for PVALB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PVALB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PVALB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PVALB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PVALB

    miRNA
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    miRTarBase miRNAs that target PVALB:
    hsa-mir-26b-5p (MIRT028750)

    Block miRNA regulation of human, mouse, rat PVALB using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate PVALB:
    hsa-miR-525-5p hsa-miR-4310 hsa-miR-766 hsa-miR-520a-5p hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidPVALB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PVALB
    Predesigned siRNA for gene silencing in human, mouse, rat PVALB

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PVALB

    Clone
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    Sino Biological Human cDNA Clone for PVALB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PVALB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PVALB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVALB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    nucleus3
    cytosol2
    endoplasmic reticulum2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0030424axon IEA--
    GO:0043234protein complex IEA--

    PVALB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PVALB
    Interactions:

        GeneGlobe Interaction Network for PVALB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for PVALB (ENSP000002162004) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PI4KBENSP000002716574STRING: ENSP00000271657
    PFKMENSP000003528424STRING: ENSP00000352842
    PPP3CAENSP000003783234STRING: ENSP00000378323
    TPM1ENSP000002679964STRING: ENSP00000267996
    MYL12AENSP000002176524STRING: ENSP00000217652
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051480cytosolic calcium ion homeostasis IEA--

    PVALB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PVALB (PRVA)

    1 HMDB Compound for PVALB    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for PVALB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Formic AcidAminic acid (see all 5)64-18-6target--10592235

    Selected Novoseek inferred chemical compound relationships for PVALB gene (see all 45)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lant-6 72.6 4 8252409 (3), 9290931 (1)
    gaba 70.9 71 10501476 (3), 7953747 (3), 17375209 (3), 8252409 (2) (see all 39)
    calcium 65.6 205 8801253 (4), 1512554 (4), 10036163 (4), 7641793 (3) (see all 99)
    glutamate 60.9 40 8979811 (2), 8813295 (1), 14708030 (1), 17439984 (1) (see all 33)
    choline 56.7 21 10392842 (2), 9469576 (1), 10495446 (1), 15922606 (1) (see all 20)
    allergens 52.7 23 20232779 (3), 15147451 (2), 10637712 (1), 17272958 (1) (see all 19)
    nmda 40.7 10 16452684 (3), 8801253 (1), 9520096 (1), 20148871 (1) (see all 6)
    kainate 37.4 4 8752591 (2), 11074157 (1)
    tyrosine 26.9 20 20383714 (2), 10495446 (1), 10967083 (1), 14708030 (1) (see all 19)
    cyanine 25.3 2 10408601 (1), 14754864 (1)



    PVALB for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PVALB gene: 
    NM_002854.2  

    Unigene Cluster for PVALB:

    Parvalbumin
    Hs.295449  [show with all ESTs]
    Unigene Representative Sequence: AA203126
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417718(uc010gwz.3) ENST00000216200(uc003apx.3) ENST00000406910
    ENST00000404171 ENST00000467935 ENST00000443735
    miRNA
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    Block miRNA regulation of human, mouse, rat PVALB using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate PVALB:
    hsa-miR-525-5p hsa-miR-4310 hsa-miR-766 hsa-miR-520a-5p hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidPVALB 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PVALB
      QuantiTect SYBR Green Assays in human, mouse, rat PVALB
      QuantiFast Probe-based Assays in human, mouse, rat PVALB

    Additional mRNA sequence: 

    AK311832.1 BC069300.1 BC096112.3 BC096113.3 BC096114.1 BC096115.1 CR456552.1 X63070.1 

    3 DOTS entries:

    DT.116063  DT.92424907  DT.95086084 

    Selected AceView cDNA sequences (see all 98):

    X63070 AI003770 CR456552 AW139024 BP428769 AA010609 NM_002854 BX098124 
    BC069300 H47665 AI027079 BP431092 H92211 AI307387 BQ639294 AI767416 
    AI335012 H47585 AI861808 BQ638514 AA010608 AI022812 AI765610 H18303 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PVALB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGACAAGG
    PVALB Expression
    About this image


    PVALB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Kidney (Urinary System)
     
     Skeletal Muscle (Muscoskeletal System)
    PVALB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PVALB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.295449
        Custom PCR Arrays for PVALB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVALB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PVALB gene from 11 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia PVALB1 parvalbumin 98.96(n)
    98.44(a)
      470201  XM_525585.3  XP_525585.2 
    mouse
    (Mus musculus)
    Mammalia Pvalb1 , 5 parvalbumin1, 5 89.09(n)1
    87.27(a)1
      15 (36.93 cM)5
    192931  NM_013645.31  NP_038673.21 
     781911145 
    rat
    (Rattus norvegicus)
    Mammalia Pvalb1 parvalbumin 90.91(n)
    91.82(a)
      25269  NM_022499.2  NP_071944.1 
    cow
    (Bos taurus)
    Mammalia PVALB1 parvalbumin 89.7(n)
    90(a)
      538603  NM_001076114.2  NP_001069582.1 
    dog
    (Canis familiaris)
    Mammalia PVALB1 parvalbumin 90.3(n)
    93.64(a)
      481278  XM_003431505.2  XP_003431553.1 
    oppossum
    (Monodelphis domestica)
    Mammalia PVALB6
    parvalbumin
    70(a)
    1 ↔ 1
    8(91471158-91492117)
    platypus
    (Ornithorhynchus anatinus)
    Mammalia PVALB6
    parvalbumin
    53(a)
    1 ↔ 1
    Contig2745(36-14478)
    chicken
    (Gallus gallus)
    Aves PVALB1 parvalbumin 74.55(n)
    79.09(a)
      396459  NM_001159315.1  NP_001152787.1 
    lizard
    (Anolis carolinensis)
    Reptilia PVALB6
    parvalbumin
    79(a)
    1 ↔ 1
    5(22525081-22545720)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX724784.12   -- 76.47(n)    BX724784.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.141472 Danio rerio parvalbumin isoform 4b mRNA, complete cds 69.55(n)    AF467913.1 
            Species with no ortholog for PVALB

    ENSEMBL Gene Tree for PVALB (if available)
    TreeFam Gene Tree for PVALB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PVALB gene
    OCM22  OCM2  
    10 SIMAP similar genes for PVALB using alignment to 4 protein entries:     PRVA_HUMAN (see all proteins):
    OCM2    OCM    CALN1    CALM1    CALM2    TNNC2
    CALM3    HZGJ    PPP3R1    PPP3R2

    PVALB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PVALB (see all 537)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs602498821,2
    C--20167620(+) ATCTT-/ATAGTAAA 1 -- int12Minor allele frequency- ATA:0.25NA 4
    rs1113663751,2
    C,F--37196293(+) TTTACC/ACATCT 1 -- ds50012Minor allele frequency- A:0.50NA 4
    rs48215281,2
    A--37196377(+) cccatC/Tcatcc 1 -- ds50010--------
    rs48215291,2
    C,F,H--37196448(+) TCAAAC/TCCCAA 1 -- ds500116Minor allele frequency- T:0.14NS EA NA WA CSA 794
    rs48215301,2
    C,F,H--37196459(+) CACTAA/GCAAAT 1 -- ds500112Minor allele frequency- G:0.44NS EA NA WA CSA 786
    rs57563491,2
    C,F,A,H--37196680(+) CCACCC/TCCTGC 1 -- ds500119Minor allele frequency- T:0.49NS EA NA WA 2342
    rs560104431,2
    --37196816(+) CAGGGA/GATGGG 1 -- ut310--------
    rs34841,2
    C,F,A,H--37196871(+) GTGGCA/GAGAGG 1 -- ut31 ese321Minor allele frequency- G:0.41MN NA PA EA WA EU 2249
    rs1818557701,2
    --37196879(+) AGGGGA/CCGAGA 1 -- ut310--------
    rs124839241,2
    C,H--37196905(+) AGAGAG/CGTGGA 1 -- ut314Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for PVALB (37196728 - 37215523 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PVALB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3618CNV Insertion18451855
    nsv522590CNV Loss19592680
    nsv3617CNV Loss18451855
    dgv1403e1CNV Complex17122850
    dgv1404e1CNV Complex17122850
    dgv1405e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 168890    OMIM disorders: --

    Selected diseases for PVALB (see all 62):    
    About MalaCards
    breast fibrosarcoma    subcortical band heterotopia    gangliocytoma    scrapie
    oxyphilic adenoma    fetal alcohol syndrome    neuronal ceroid-lipofuscinoses    chromophobe renal cell carcinoma
    gitelman syndrome    renal oncocytoma    transient cerebral ischemia    progressive supranuclear palsy
    tuberous sclerosis complex    ganglioglioma    focal epilepsy    dentatorubral-pallidoluysian atrophy
    diastolic heart failure    temporal lobe epilepsy    renal clear cell carcinoma    xeroderma pigmentosum, group a

    7 diseases from the University of Copenhagen DISEASES database for PVALB:
    Schizophrenia     Neurodegenerative disease     Brain disease     Hypersensitivity reaction type I disease
    Tetanus     Oxyphilic adenoma     Renal oncocytoma

    PVALB for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PVALB gene (see all 57)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oncocytoma 63.7 13 16927643 (6), 11337362 (1), 14695146 (1), 16166433 (1) (see all 7)
    epilepsy temporal lobe 54.9 3 1865007 (1), 9329455 (1), 16822257 (1)
    schizophrenia 48 18 11532725 (2), 12589379 (2), 15555777 (1), 11955958 (1) (see all 16)
    epilepsy 47 10 17535552 (1), 8064311 (1), 18562329 (1), 17267178 (1) (see all 7)
    fetal alcohol syndrome 39.9 2 19251116 (1)
    neurodegeneration 39.1 2 10448425 (1), 15043712 (1)
    allergy 38.2 7 15696099 (1), 19398906 (1), 12783765 (1), 11971005 (1) (see all 7)
    carcinoma renal cell 35.5 11 15286660 (4), 11504835 (3), 16927643 (1), 16512599 (1)
    gliosis 35.3 1 17485991 (1)
    neurofibrillary tangles 34.9 2 1717900 (2)

    Genetic Association Database (GAD): PVALB

    Export disorders for PVALB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PVALB gene, integrated from 10 sources (see all 516):
    (articles sorted by number of sources associating them with PVALB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    2. Electrospray ionization mass spectrometry: analysis of the Ca2+- binding properties of human recombinant alpha-parvalbumin and nine mutant proteins. (PubMed id 10036163)1, 2, 9 Troxler H.... Heizmann C.W. (Anal. Biochem. 1999)
    3. Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PubMed id 8354278)1, 2, 9 Foehr U.G.... Heizmann C.W. (Eur. J. Biochem. 1993)
    4. The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. (PubMed id 1559707)1, 3, 9 Ritzler J.M....Berchtold M.W. (Genomics 1992)
    5. A genome-wide association study of female sexual dysfunction. (PubMed id 22509378)1, 4 Burri A....Spector T.D. (PLoS ONE 2012)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Parvalbumin genes from human and rat are identical in intron/exon organization and contain highly homologous regulatory elements and coding sequences. (PubMed id 2614829)1, 2 Berchtold M.W. (J. Mol. Biol. 1989)
    9. Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. (PubMed id 18469313)1, 9 Riveira-Munoz E....Dahan K. (Nephrol. Dial. Transplant. 2008)
    10. Distribution of parvalbumin and calretinin immunoreactive interneurons in motor cortex from multiple sclerosis post-mortem tissue. (PubMed id 18297277)1, 9 Clements R.J....Freeman E.J. (Exp Brain Res 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5816 HGNC: 9704 AceView: PVALB Ensembl:ENSG00000100362 euGenes: HUgn5816
    ECgene: PVALB H-InvDB: PVALB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PVALB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PVALB gene:
    Search GeneIP for patents involving PVALB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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