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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] See more...

Aliases for PVALB Gene

Aliases for PVALB Gene

  • Parvalbumin 2 3 5
  • Parvalbumin Alpha 2 3 4
  • D22S749 2 3
  • PVALB 5

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for PVALB Gene

PVALB (Parvalbumin) is a Protein Coding gene. Diseases associated with PVALB include Fish Allergy and Fetal Alcohol Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is OCM.

UniProtKB/Swiss-Prot Summary for PVALB Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PVALB Gene

Genomics for PVALB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PVALB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J036816 Promoter 1.2 EPDnew Ensembl 600.7 +2.6 2598 1 ZNF629 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 ZNF37A ZNF561 ZBTB20 ZXDB ENSG00000234979 PVALB lnc-IFT27-1 IFT27
GH22J036817 Promoter 0.7 EPDnew 600.7 +2.0 1963 0.1 ZNF600 ZBTB17 ZNF777 ZFP69B GLIS1 POLR2A EZH2 GLIS2 ENSG00000234979 PVALB lnc-IFT27-1 IFT27
GH22J036819 Promoter/Enhancer 0.5 EPDnew Ensembl 600.7 +0.2 198 0.6 PVALB lnc-IFT27-1 ENSG00000234979 IFT27
GH22J036859 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26.7 -42.2 -42150 4.2 SP1 POLR2A BACH1 LARP7 ZNF143 ZIC2 SMAD5 TCF12 IKZF2 RCOR1 NCF4 PVALB CSF2RB CYTH4 RAC2 NCF4-AS1
GH22J036775 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.6 +43.4 43399 2.6 BRCA1 SP1 CREB1 PRDM10 ZNF692 FOS GABPA DDX20 ZNF143 RFX1 IFT27 lnc-IFT27-3 PVALB ENSG00000234979 ENSG00000229971 NCF4 NCF4-AS1 TEX33 IL2RB ENSG00000235237
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PVALB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PVALB

Top Transcription factor binding sites by QIAGEN in the PVALB gene promoter:
  • AML1a
  • AP-4
  • Cart-1
  • E47
  • IRF-1
  • Lmo2
  • MZF-1
  • Nkx2-5
  • Pax-5
  • XBP-1

Genomic Locations for PVALB Gene

Genomic Locations for PVALB Gene
chr22:36,800,684-36,819,499
(GRCh38/hg38)
Size:
18,816 bases
Orientation:
Minus strand
chr22:37,196,728-37,215,523
(GRCh37/hg19)
Size:
18,796 bases
Orientation:
Minus strand

Genomic View for PVALB Gene

Genes around PVALB on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for PVALB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PVALB Gene

No data available for DME Specific Peptides for PVALB Gene

Domains & Families for PVALB Gene

Gene Families for PVALB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PVALB Gene

InterPro:
Blocks:
  • Parvalbumin signature
ProtoNet:

Suggested Antigen Peptide Sequences for PVALB Gene

GenScript: Design optimal peptide antigens:
  • Parvalbumin (B1AH73_HUMAN)
  • Parvalbumin alpha (PRVA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20472

UniProtKB/Swiss-Prot:

PRVA_HUMAN :
  • Belongs to the parvalbumin family.
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

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

Phenotypes From GWAS Catalog for PVALB Gene

Gene Ontology (GO) - Molecular Function for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0042802 identical protein binding IEA --
GO:0044877 protein-containing complex binding IEA --
GO:0046872 metal ion binding 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:

Animal Model Products

CRISPR Products

miRNA for PVALB Gene

miRTarBase miRNAs that target PVALB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PVALB

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PVALB Gene

Localization for PVALB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PVALB gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 3
extracellular 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0030424 axon IEA --
GO:0032420 stereocilium IEA --
GO:0032437 cuticular plate 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 & Interactions for PVALB Gene

PathCards logo

SuperPathways for PVALB Gene

No Data Available

Gene Ontology (GO) - Biological Process for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090102 cochlea development IEA --
genes like me logo Genes that share ontologies with PVALB: view

No data available for Pathways by source and SIGNOR curated interactions for PVALB Gene

Drugs & Compounds for PVALB Gene

(31) Drugs for PVALB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formic acid Experimental, Investigational Pharma Target 0
Calcium Nutra 6556

(15) Additional Compounds for PVALB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PVALB: view

Transcripts for PVALB Gene

mRNA/cDNA for PVALB Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PVALB

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

No ASD Table

Relevant External Links for PVALB Gene

GeneLoc Exon Structure for
PVALB

Expression for PVALB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x20.8) and Brain - Cerebellar Hemisphere (x12.1).

Protein differential expression in normal tissues from HIPED for PVALB Gene

This gene is overexpressed in Retina (29.5), Frontal cortex (9.9), and Brain (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PVALB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PVALB

SOURCE GeneReport for Unigene cluster for PVALB Gene:

Hs.295449

Evidence on tissue expression from TISSUES for PVALB Gene

  • Nervous system(4.9)
  • Thyroid gland(3.3)
  • Kidney(3.2)
  • Eye(3.1)
  • Skin(2.7)
  • Muscle(2.6)
  • Blood(2.3)
  • Heart(2.2)
  • Bone(2.2)
genes like me logo Genes that share expression patterns with PVALB: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30
  • 98.96 (n)
Rat
(Rattus norvegicus)
Mammalia Pvalb 30
  • 90.91 (n)
Dog
(Canis familiaris)
Mammalia PVALB 30 31
  • 90.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PVALB 30 31
  • 89.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pvalb 30 17 31
  • 89.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PVALB 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PVALB 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PVALB1 31
  • 79 (a)
OneToOne
PVALB 30
  • 74.55 (n)
Lizard
(Anolis carolinensis)
Reptilia PVALB 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486372 30
  • 71.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii pvalb7 31
  • 67 (a)
OneToMany
pvalb6 30 31
  • 66.67 (n)
OneToMany
Dr.14147 30
Species where no ortholog for PVALB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PVALB: view image

Paralogs for PVALB Gene

Paralogs for PVALB Gene

(10) SIMAP similar genes for PVALB Gene using alignment to 4 proteins:

  • PRVA_HUMAN
  • B1AH72_HUMAN
  • B8ZZ19_HUMAN
  • H0Y3U0_HUMAN
genes like me logo Genes that share paralogs with PVALB: view

Variants for PVALB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PVALB Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
781615 Benign: not provided 36,815,104(-) C/T MISSENSE_VARIANT
781616 Benign: not provided 36,815,175(-) G/A MISSENSE_VARIANT
781617 Benign: not provided 36,815,245(-) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PVALB Gene

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

Variant ID Type Subtype PubMed ID
esv2758837 CNV gain+loss 17122850
esv3647695 CNV loss 21293372
nsv1060986 CNV gain 25217958
nsv3617 CNV deletion 18451855
nsv3618 CNV insertion 18451855
nsv522590 CNV loss 19592680

Variation tolerance for PVALB Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PVALB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PVALB

SNP Genotyping and Copy Number Assay Products

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

Disorders for PVALB Gene

MalaCards: The human disease database

(69) MalaCards diseases for PVALB Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fish allergy
  • allergy to fish
fetal alcohol syndrome
  • alcohol-related neurodevelopmental disorder
gangliocytoma
  • gangliocytoma of central nervous system
temporal lobe epilepsy
  • epilepsy, temporal lobe
oncocytoma
  • oxyphilic adenoma
- elite association - COSMIC cancer census association via MalaCards
Search PVALB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PVALB

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

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

Publications for PVALB Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  2. Electrospray ionization mass spectrometry: analysis of the Ca2+-binding properties of human recombinant alpha-parvalbumin and nine mutant proteins. (PMID: 10036163) Troxler H … Heizmann CW (Analytical biochemistry 1999) 3 4 23
  3. Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PMID: 8354278) Föhr UG … Heizmann CW (European journal of biochemistry 1993) 3 4 23
  4. The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. (PMID: 1559707) Ritzler JM … Berchtold MW (Genomics 1992) 2 3 23
  5. A genome-wide association study of female sexual dysfunction. (PMID: 22509378) Burri A … Spector TD (PloS one 2012) 3 41

Products for PVALB Gene

Sources for PVALB Gene