U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PVALB parvalbumin [ Homo sapiens (human) ]

Gene ID: 5816, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
PVALBprovided by HGNC
Official Full Name
parvalbuminprovided by HGNC
Primary source
HGNC:HGNC:9704
See related
Ensembl:ENSG00000100362 MIM:168890; AllianceGenome:HGNC:9704
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D22S749
Summary
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]
Expression
Biased expression in kidney (RPKM 20.1) and brain (RPKM 2.2) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PVALB in Genome Data Viewer
Location:
22q12.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36800703..36819499, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37256575..37275349, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37196747..37215543, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CACNG2 divergent transcript Neighboring gene uncharacterized LOC124905112 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37161913-37163112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13671 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37171863-37172426 Neighboring gene intraflagellar transport 27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:37172992-37173555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37194619-37195541 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37203445-37204171 Neighboring gene NCF4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37267835-37268373 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:37275012-37275204 Neighboring gene neutrophil cytosolic factor 4 Neighboring gene uncharacterized LOC105373022

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Strontium Binding to α-Parvalbumin, a Canonical Calcium-Binding Protein of the "EF-Hand" Family. Vologzhannikova AA, et al. Biomolecules, 2021 Aug 5. PMID 34439824, Free PMC Article
  2. Propofol sedation-induced alterations in brain connectivity reflect parvalbumin interneurone distribution in human cerebral cortex. Craig MM, et al. Br J Anaesth, 2021 Apr. PMID 33386125
  3. Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. Caliò A, et al. Virchows Arch, 2021 Apr. PMID 32524185
  4. Parvalbumin Promoter Methylation Altered in Major Depressive Disorder. Thaweethee-Sukjai B, et al. Int J Med Sci, 2019. PMID 31588185, Free PMC Article
  5. Parvalbumin promoter hypermethylation in postmortem brain in schizophrenia. Fachim HA, et al. Epigenomics, 2018 May. PMID 29688033

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Nature of Prefrontal Cortical GABA Neuron Alterations in Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene Expression Without Missing Neurons.
    Title: The Nature of Prefrontal Cortical GABA Neuron Alterations in Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene Expression Without Missing Neurons.
  2. Strontium Binding to alpha-Parvalbumin, a Canonical Calcium-Binding Protein of the ""EF-Hand"" Family.
    Title: Strontium Binding to α-Parvalbumin, a Canonical Calcium-Binding Protein of the "EF-Hand" Family.
  3. Age-related changes in the number of cresyl-violet-stained, parvalbumin and NMDAR 2B expressing neurons in the human spiral ganglion.
    Title: Age-related changes in the number of cresyl-violet-stained, parvalbumin and NMDAR 2B expressing neurons in the human spiral ganglion.
  4. Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney.
    Title: Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney.
  5. Propofol sedation-induced alterations in brain connectivity reflect parvalbumin interneurone distribution in human cerebral cortex.
    Title: Propofol sedation-induced alterations in brain connectivity reflect parvalbumin interneurone distribution in human cerebral cortex.
  6. Transcriptional and imaging-genetic association of cortical interneurons, brain function, and schizophrenia risk.
    Title: Transcriptional and imaging-genetic association of cortical interneurons, brain function, and schizophrenia risk.
  7. GluN2D-mediated excitatory drive onto medial prefrontal cortical PV+ fast-spiking inhibitory interneurons.
    Title: GluN2D-mediated excitatory drive onto medial prefrontal cortical PV+ fast-spiking inhibitory interneurons.
  8. PVALB promoter methylation in major depressive disorder and its correlation with major depressive disorder severity indicating a role for epigenetics in this psychiatric disorder.
    Title: Parvalbumin Promoter Methylation Altered in Major Depressive Disorder.
  9. These results provide the first evidence that PVALB promoter methylation is abnormal in schizophrenia and suggest that this epigenetic finding may relate to the reduction of PV expression seen in the disease.
    Title: Parvalbumin promoter hypermethylation in postmortem brain in schizophrenia.
  10. the Calreticulin deficiency-mediated increase in cell death was not prevented by calbindin-D28k or Parvalbumin.
    Title: Calretinin Functions in Malignant Mesothelioma Cells Cannot Be Replaced by the Closely Related Ca(2+)-Binding Proteins Calbindin-D28k and Parvalbumin.
Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of female sexual dysfunction.
EBI GWAS Catalog
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of parvalbumin (PVALB) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC116759

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in excitatory chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in inhibitory chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
parvalbumin alpha

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001315532.2 → NP_001302461.1  parvalbumin alpha

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AV724364, DA054941, DA392417
    Consensus CDS
    CCDS13933.1
    UniProtKB/Swiss-Prot
    B2R4H7, P20472, P78378, Q4VB78, Q5R3Q9
    UniProtKB/TrEMBL
    B8ZZ19
    Related
    ENSP00000400247.2, ENST00000417718.7
    Conserved Domains (1) summary
    cd16254
    Location:9 → 109
    EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin

  2. NM_002854.3 → NP_002845.1  parvalbumin alpha

    See identical proteins and their annotated locations for NP_002845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA771973, AI262242, BC069300, Z82185
    Consensus CDS
    CCDS13933.1
    UniProtKB/Swiss-Prot
    B2R4H7, P20472, P78378, Q4VB78, Q5R3Q9
    UniProtKB/TrEMBL
    B8ZZ19
    Related
    ENSP00000216200.5, ENST00000216200.9
    Conserved Domains (1) summary
    cd16254
    Location:9 → 109
    EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    36800703..36819499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187631.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    21490..40286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    37256575..37275349 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20472.2 GenPept UniProtKB/Swiss-Prot:P20472

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous