Human Gene PVALB (uc003apx.3)
  Description: Homo sapiens parvalbumin (PVALB), mRNA.
RefSeq Summary (NM_002854): 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].
Transcript (Including UTRs)
   Position: hg19 chr22:37,196,745-37,215,517 Size: 18,773 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr22:37,196,934-37,213,049 Size: 16,116 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:37,196,745-37,215,517)mRNA (may differ from genome)Protein (110 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDHuman Cortex Gene ExpressionLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRVA_HUMAN
DESCRIPTION: RecName: Full=Parvalbumin alpha;
FUNCTION: In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions.
MASS SPECTROMETRY: Mass=11927; Mass_error=0.76; Method=Electrospray; Range=2-110; Source=PubMed:10036163;
SIMILARITY: Belongs to the parvalbumin family.
SIMILARITY: Contains 2 EF-hand domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PVALB
CDC HuGE Published Literature: PVALB
Positive Disease Associations: Sexual Dysfunctions, Psychological
Related Studies:
  1. Sexual Dysfunctions, Psychological
    Andrea Burri et al. PloS one 2012, A genome-wide association study of female sexual dysfunction., PloS one. [PubMed 22509378]
    We report the first GWAS of FSD symptoms in humans. This has pointed to several "risk alleles" and the implication of the serotonin and GABA pathways. Ultimately, understanding key mechanisms via this research may lead to new FSD treatments and inform clinical practice and developments in psychiatric nosology.

-  MalaCards Disease Associations
  MalaCards Gene Search: PVALB
Diseases sorted by gene-association score: fish allergy (17), fetal alcohol syndrome (7), temporal lobe epilepsy (5), motor neuron disease (4), status epilepticus (4), chromophobe renal cell carcinoma (3), breast fibrosarcoma (3), synucleinopathy (3), schizophrenia (3), allergic hypersensitivity disease (2), renal cell carcinoma (2), neuronal migration disorders (2), neonatal hypoxic and ischemic brain injury (1), disease of mental health (1), amyotrophic lateral sclerosis 1 (1), agenesis of the corpus callosum with peripheral neuropathy (1), peach allergy (1), west syndrome (1), intraocular retinoblastoma (1), epileptic encephalopathy, early infantile, 6 (1), amphetamine abuse (1), mental retardation, x-linked syndromic, lubs type (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 269.37 RPKM in Brain - Cerebellum
Total median expression: 530.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.4050-0.148 Picture PostScript Text
3' UTR -41.88189-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR008080 - Parvalbumin

Pfam Domains:
PF00036 - EF hand
PF13202 - EF hand
PF13405 - EF-hand domain
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1RJV - NMR MuPIT 1RK9 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P20472
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0051480 regulation of cytosolic calcium ion concentration

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030424 axon
GO:0032991 macromolecular complex
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  LP896261 - Sequence 1125 from Patent EP3253886.
CR456552 - Homo sapiens PVALB full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.PVALB).
BC069300 - Homo sapiens parvalbumin, mRNA (cDNA clone MGC:97468 IMAGE:7262744), complete cds.
X63070 - H.sapiens mRNA for parvalbumin.
BC096112 - Homo sapiens parvalbumin, mRNA (cDNA clone MGC:116758 IMAGE:40002305), complete cds.
BC096113 - Homo sapiens parvalbumin, mRNA (cDNA clone MGC:116759 IMAGE:40002307), complete cds.
BC096114 - Homo sapiens parvalbumin, mRNA (cDNA clone MGC:116760 IMAGE:40002308), complete cds.
BC096115 - Homo sapiens parvalbumin, mRNA (cDNA clone MGC:116761 IMAGE:40002310), complete cds.
CU013152 - Homo sapiens PVALB, mRNA (cDNA clone IMAGE:100000505), complete cds, with stop codon, in Gateway system.
AK311832 - Homo sapiens cDNA, FLJ92094, Homo sapiens parvalbumin (PVALB), mRNA.
CU686732 - Synthetic construct Homo sapiens gateway clone IMAGE:100022540 5' read PVALB mRNA.
KJ891954 - Synthetic construct Homo sapiens clone ccsbBroadEn_01348 PVALB gene, encodes complete protein.
CU013440 - Homo sapiens PVALB, mRNA (cDNA clone IMAGE:100000409), complete cds, without stop codon, in Gateway system.
JD373564 - Sequence 354588 from Patent EP1572962.
JD292739 - Sequence 273763 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4H7, NM_002854, NP_002845, P20472, P78378, PRVA_HUMAN, Q4VB78, Q5R3Q9
UCSC ID: uc003apx.3
RefSeq Accession: NM_002854
Protein: P20472 (aka PRVA_HUMAN)
CCDS: CCDS13933.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002854.2
exon count: 5CDS single in 3' UTR: no RNA size: 586
ORF size: 333CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 805.00frame shift in genome: no % Coverage: 97.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.