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Aliases for PVALB Gene

Aliases for PVALB Gene

  • Parvalbumin 2 3 5
  • Parvalbumin Alpha 2 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. 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 for PVALB Gene

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

Additional gene information for PVALB Gene

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

Genomics for PVALB Gene

GeneHancer (GH) Regulatory Elements for PVALB Gene

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
GH22I036816 Promoter/Enhancer 1.3 EPDnew Ensembl 550.8 +2.5 2517 1.7 NFIB ZSCAN4 KLF17 FEZF1 ZNF335 GLIS2 ZNF350 EGR2 ZIK1 ZNF398 ENSG00000234979 PVALB
GH22I036819 Promoter 0.5 EPDnew 550.8 0.0 -40 0.1 PVALB ENSG00000234979 NCF4
GH22I036859 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26.7 -42.2 -42170 4.2 HDGF PKNOX1 SMAD1 RB1 KLF17 BATF KLF5 IRF4 ZNF207 ZNF143 NCF4 PVALB CSF2RB CYTH4 RAC2 NCF4-AS1
GH22I036775 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.6 +43.2 43245 1.9 PKNOX1 ATF1 SIN3A ZBTB7B BRCA1 YY1 TCF12 ZNF143 ATF7 FOS IFT27 GGA1 PVALB ENSG00000234979 ENSG00000229971 NCF4 NCF4-AS1 TEX33 IL2RB ENSG00000235237
GH22I036853 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.8 -34.2 -34216 1.1 CTCF ETV1 RAD21 YY1 ZNF121 POLR2A VEZF1 ZNF143 ZNF654 TRIM22 PVALB ENSG00000234979 IFT27 TEX33 NCF4 NCF4-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PVALB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PVALB gene promoter:

Genomic Locations for PVALB Gene

Genomic Locations for PVALB Gene
chr22:36,800,684-36,819,479
(GRCh38/hg38)
Size:
18,796 bases
Orientation:
Minus strand
chr22:37,196,728-37,215,523
(GRCh37/hg19)

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

No Post-translational modifications

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

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 :
  • 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

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.

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 --
GO:0042803 protein homodimerization activity IEA --
GO:0046872 metal ion binding 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

Inhibitory RNA Products

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
extracellular 5
nucleus 4
cytoskeleton 3
cytosol 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2

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 IEA --
GO:0005737 cytoplasm IEA --
GO:0030424 axon IEA --
GO:0043025 neuronal cell body IEA --
GO:0043195 terminal bouton 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

SuperPathways for PVALB Gene

No Data Available

Gene Ontology (GO) - Biological Process for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051480 regulation of cytosolic calcium ion concentration 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

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

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

(16) 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

Unigene Clusters for PVALB Gene

Parvalbumin:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for PVALB Gene



NURSA nuclear receptor signaling pathways regulating expression of PVALB Gene:

PVALB

SOURCE GeneReport for Unigene cluster for PVALB Gene:

Hs.295449

Evidence on tissue expression from TISSUES for PVALB Gene

  • Nervous system(4.9)
  • Eye(2.7)
  • Kidney(2.7)
  • Thyroid gland(2.6)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PVALB: view

Primer Products

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 33
  • 98.96 (n)
rat
(Rattus norvegicus)
Mammalia Pvalb 33
  • 90.91 (n)
dog
(Canis familiaris)
Mammalia PVALB 33 34
  • 90.3 (n)
cow
(Bos Taurus)
Mammalia PVALB 33 34
  • 89.7 (n)
mouse
(Mus musculus)
Mammalia Pvalb 33 16 34
  • 89.09 (n)
oppossum
(Monodelphis domestica)
Mammalia PVALB 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PVALB 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves PVALB1 34
  • 79 (a)
OneToOne
PVALB 33
  • 74.55 (n)
lizard
(Anolis carolinensis)
Reptilia PVALB 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486372 33
  • 71.52 (n)
zebrafish
(Danio rerio)
Actinopterygii pvalb7 34
  • 67 (a)
OneToMany
pvalb6 33 34
  • 66.67 (n)
Dr.14147 33
Species where no ortholog for PVALB was found in the sources mined by GeneCards:
  • 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

(10) 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 Variation AA Info Type
rs1000104079 -- 36,802,227(-) T/C intron_variant
rs1000244147 -- 36,811,111(-) A/C intron_variant
rs1000296575 -- 36,810,884(-) C/G/T intron_variant
rs1000434673 -- 36,816,250(-) C/T intron_variant
rs1000650187 -- 36,800,235(-) A/C downstream_transcript_variant

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

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

Disorders for PVALB Gene

MalaCards: The human disease database

(25) 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
temporal lobe epilepsy
  • epilepsy, temporal lobe
motor neuron disease
  • motor neuron diseases
status epilepticus
  • gcse
- 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 58
  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 22 58
  3. Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PMID: 8354278) Föhr UG … Heizmann CW (European journal of biochemistry 1993) 3 4 22 58
  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 22 58
  5. A genome-wide association study of female sexual dysfunction. (PMID: 22509378) Burri A … Spector TD (PloS one 2012) 3 44 58

Products for PVALB Gene

Sources for PVALB Gene

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