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PVALB Gene(Protein Coding)

Parvalbumin

GCID:
GC22M036800
GIFtS:
58
Genes Participants
UDN Logo

Aliases for PVALB Gene

Aliases for PVALB Gene

  • Parvalbumin 2 3 5
  • 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 Fetal Alcohol Syndrome and Fish Allergy. 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.

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

Products:

  1. Regulatory Element

Regulatory Elements for PVALB Gene

Enhancers for PVALB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PVALB on UCSC Golden Path with GeneCards custom track

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

Genomic Location for PVALB Gene

Chromosome:
22
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

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 Structure • Gene Density

RefSeq DNA sequence for PVALB Gene

Proteins for PVALB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PVALB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PVALB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PVALB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for PVALB Gene

Domains & Families for PVALB Gene

Gene Families for PVALB Gene

HGNC:

Protein Domains for PVALB Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Contains 2 EF-hand domains.
  • Belongs to the parvalbumin family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 for PVALB Gene

MGI mutant phenotypes for PVALB:
inferred from 11 alleles
GenomeRNAi human phenotypes for PVALB:
genes like me logo Genes that share phenotypes with PVALB: view

Animal Models for PVALB Gene

MGI Knock Outs for PVALB:

Animal Model Products

miRNA for PVALB Gene

miRTarBase miRNAs that target PVALB

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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
extracellular 5
cytosol 4
nucleus 4
cytoskeleton 3
endoplasmic reticulum 2
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PVALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0030424 axon IEA --
GO:0043025 neuronal cell body 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

PathCards logoMore details on SuperPathways for PVALB
No Data Available

Interacting Proteins for PVALB Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000216200%0d%0a9606.ENSP00000380444%0d%0a9606.ENSP00000348349%0d%0a9606.ENSP00000268182%0d%0a9606.ENSP00000274364%0d%0a9606.ENSP00000354451%0d%0a
Selected Interacting proteins: ENSP00000216200 for PVALB Gene via STRING

Gene Ontology (GO) - Biological Process for PVALB Gene

None

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

Drugs & Compounds for PVALB Gene

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  1. Drug

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

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

(18) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PVALB Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(98) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PVALB Gene

Parvalbumin:
Representative Sequences:

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for PVALB Gene

mRNA expression in normal human tissues for PVALB Gene
mRNA expression by BioGPS for PVALB GenemRNA expression by GTEx 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



SOURCE GeneReport for Unigene cluster for PVALB Gene Hs.295449

genes like me logo Genes that share expression patterns with PVALB: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
 Mammalia PVALB 35
  • 98.96 (n)
  • 98.44 (a)
rat
(Rattus norvegicus)
 Mammalia Pvalb 35
  • 90.91 (n)
  • 91.82 (a)
oppossum
(Monodelphis domestica)
 Mammalia PVALB 36
  • 70 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PVALB 36
  • 53 (a)
 OneToOne
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

(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 Sequence Context AA Info Type
rs3484 -- 36,800,827(+) GTGGC(A/G)AGAGG utr-variant-3-prime
rs2213428 -- 36,814,304(+) GTGTG(C/T)GCATA intron-variant
rs2213429 -- 36,821,128(+) AAGAT(C/T)GCTGG upstream-variant-2KB
rs2227064 -- 36,820,934(+) AAGAG(C/T)TGATG upstream-variant-2KB
rs2227065 -- 36,821,333(+) CCCCG(C/G)TTCTC upstream-variant-2KB

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

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PVALB Gene

Disorders for PVALB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fetal alcohol syndrome
  • alcohol-related neurodevelopmental disorder
fish allergy
  • allergy to fish
temporal lobe epilepsy
  • epilepsy, temporal lobe
motor neuron disease
  • motor neuron diseases
creutzfeldt-jakob disease
  • creutzfeldt-jakob disease, variant
- elite association - COSMIC cancer census association via MalaCards
Search PVALB in MalaCards View complete list of genes associated with diseases

Relevant External Links for PVALB

Genetic Association Database (GAD)
PVALB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. … Wright H. (Nature 1999) 2 3 4 67
  2. 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
  3. Distribution of parvalbumin and calretinin immunoreactive interneurons in motor cortex from multiple sclerosis post-mortem tissue. (PMID: 18297277) Clements R.J. … Freeman E.J. (Exp Brain Res 2008) 3 23
  4. Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. (PMID: 18469313) Riveira-Munoz E. … Dahan K. (Nephrol. Dial. Transplant. 2008) 3 23
  5. Strongly reduced number of parvalbumin-immunoreactive projection neurons in the mammillary bodies in schizophrenia: further evidence for limbic neuropathology. (PMID: 17405923) Bernstein H.G. … Bogerts B. (Ann. N. Y. Acad. Sci. 2007) 3 23

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Sources for PVALB Gene

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