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Aliases for PVALB Gene

Aliases for PVALB Gene

  • Parvalbumin 2 3
  • Parvalbumin Alpha 3
  • D22S749 3

External Ids for PVALB Gene

Previous GeneCards Identifiers for PVALB Gene

  • GC22M033811
  • GC22M035439
  • GC22M035521
  • GC22M037196
  • GC22M020159

Summaries for PVALB Gene

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 subcortical band heterotopia and gangliocytoma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is OCM.

UniProtKB/Swiss-Prot for PVALB Gene

  • In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PVALB Gene

Genomics for PVALB Gene

Regulatory Elements for PVALB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PVALB Gene

Start:
36,800,684 bp from pter
End:
36,819,479 bp from pter
Size:
18,796 bases
Orientation:
Minus strand

Genomic View for PVALB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PVALB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PVALB Gene

Proteins for PVALB Gene

  • Protein details for PVALB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20472-PRVA_HUMAN
    Recommended name:
    Parvalbumin alpha
    Protein Accession:
    P20472
    Secondary Accessions:
    • B2R4H7
    • P78378
    • Q4VB78
    • Q5R3Q9

    Protein attributes for PVALB Gene

    Size:
    110 amino acids
    Molecular mass:
    12059 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PVALB Gene

neXtProt entry for PVALB Gene

Proteomics data for PVALB Gene at MOPED

Post-translational modifications for PVALB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PVALB Gene

Antibody Products

  • R&D Systems Antibodies for PVALB (Parvalbumin alpha)

No data available for DME Specific Peptides for PVALB Gene

Domains for PVALB Gene

Gene Families for PVALB Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for PVALB Gene

Suggested Antigen Peptide Sequences for PVALB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20472

UniProtKB/Swiss-Prot:

PRVA_HUMAN :
  • P20472
Domain:
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the parvalbumin family.
genes like me logo Genes that share domains with PVALB: view

Function for PVALB Gene

Molecular function for PVALB Gene

GENATLAS Biochemistry: parvalbumin,high affinity calcium binding protein,in muscle fibers IIB and GABAergic cells
UniProtKB/Swiss-Prot Function: In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions

Gene Ontology (GO) - Molecular Function for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with PVALB: view
genes like me logo Genes that share phenotypes with PVALB: view

Animal Models for PVALB Gene

MGI Knock Outs for PVALB:

miRNA for PVALB Gene

miRTarBase miRNAs that target PVALB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PVALB Gene

Localization for PVALB Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PVALB Gene COMPARTMENTS Subcellular localization image for PVALB gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0030424 axon IEA --
GO:0043025 neuronal cell body IEA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with PVALB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PVALB Gene

Pathways for PVALB Gene

SuperPathways for PVALB Gene

No Data Available

Interacting Proteins for PVALB Gene

Gene Ontology (GO) - Biological Process for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051480 cytosolic calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with PVALB: view

No data available for Pathways by source for PVALB Gene

Compounds for PVALB Gene

(1) HMDB Compounds for PVALB Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for PVALB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Formic Acid
  • Aminic acid
64-18-6 target

(45) Novoseek inferred chemical compound relationships for PVALB Gene

Compound -log(P) Hits PubMed IDs
lant-6 72.6 4
gaba 70.9 51
calcium 65.6 131
glutamate 60.9 34
choline 56.7 21
genes like me logo Genes that share compounds with PVALB: view

Transcripts for PVALB Gene

Unigene Clusters for PVALB Gene

Parvalbumin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PVALB

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PVALB Gene

No ASD Table

Relevant External Links for PVALB Gene

GeneLoc Exon Structure for
PVALB
ECgene alternative splicing isoforms for
PVALB

Expression for PVALB Gene

mRNA expression in normal human tissues for PVALB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PVALB Gene

This gene is overexpressed in Brain - Cerebellum (20.8) and Brain - Cerebellar Hemisphere (12.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PVALB Gene

SOURCE GeneReport for Unigene cluster for PVALB Gene Hs.295449

genes like me logo Genes that share expressions with PVALB: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PVALB Gene

Orthologs for PVALB Gene

This gene was present in the common ancestor of chordates.

Orthologs for PVALB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PVALB 35
  • 98.96 (n)
  • 98.44 (a)
cow
(Bos Taurus)
Mammalia PVALB 35
  • 89.7 (n)
  • 90 (a)
PVALB 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PVALB 35
  • 90.3 (n)
  • 93.64 (a)
PVALB 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pvalb 35
  • 89.09 (n)
  • 87.27 (a)
Pvalb 16
Pvalb 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PVALB 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PVALB 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pvalb 35
  • 90.91 (n)
  • 91.82 (a)
chicken
(Gallus gallus)
Aves PVALB 35
  • 74.55 (n)
  • 79.09 (a)
PVALB1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PVALB 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486372 35
  • 71.52 (n)
  • 75.45 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.14147 35
pvalb6 35
  • 66.67 (n)
  • 63.3 (a)
pvalb6 36
  • 63 (a)
OneToMany
pvalb7 36
  • 67 (a)
OneToMany
Species with no ortholog for PVALB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PVALB Gene

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

Paralogs for PVALB Gene

Paralogs for PVALB Gene

Selected SIMAP similar genes for PVALB Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PVALB: view

Variants for PVALB Gene

Sequence variations from dbSNP and Humsavar for PVALB Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs3484 -- 36,800,827(+) GTGGC(A/G)AGAGG utr-variant-3-prime
rs736720 -- 36,806,787(+) TCGTC(A/G)GCTCT intron-variant
rs736721 -- 36,806,662(+) CATCC(C/T)GGAGA intron-variant
rs739031 -- 36,812,105(+) TTTTG(G/T)GTTCA intron-variant
rs739032 -- 36,816,045(+) GTATT(G/T)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PVALB Gene

Variant ID Type Subtype PubMed ID
nsv3617 CNV Loss 18451855
nsv3618 CNV Insertion 18451855
dgv1403e1 CNV Complex 17122850
dgv1404e1 CNV Complex 17122850
dgv1405e1 CNV Complex 17122850
nsv522590 CNV Loss 19592680

Relevant External Links for PVALB Gene

HapMap Linkage Disequilibrium report
PVALB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PVALB Gene

Disorders for PVALB Gene

(57) Novoseek inferred disease relationships for PVALB Gene

Disease -log(P) Hits PubMed IDs
oncocytoma 63.7 12
epilepsy temporal lobe 54.9 3
schizophrenia 48 18
epilepsy 47 7
fetal alcohol syndrome 39.9 1

Relevant External Links for PVALB

Genetic Association Database (GAD)
PVALB
genes like me logo Genes that share disorders with PVALB: view

No data available for UniProtKB/Swiss-Prot for PVALB Gene

Publications for PVALB Gene

  1. The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. (PMID: 1559707) Ritzler J.M. … Berchtold M.W. (Genomics 1992) 2 3 23
  2. Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PMID: 8354278) Foehr U.G. … Heizmann C.W. (Eur. J. Biochem. 1993) 3 4 23
  3. Electrospray ionization mass spectrometry: analysis of the Ca2+- binding properties of human recombinant alpha-parvalbumin and nine mutant proteins. (PMID: 10036163) Troxler H. … Heizmann C.W. (Anal. Biochem. 1999) 3 4 23
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4
  5. A genome-wide association study of female sexual dysfunction. (PMID: 22509378) Burri A. … Spector T.D. (PLoS ONE 2012) 3 48

Products for PVALB Gene

Sources for PVALB Gene

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