PVALB (parvalbumin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 5816
Gene name Parvalbumin
Gene symbol PVALB
Synonyms (NCBI Gene)
D22S749
Chromosome 22
Chromosome location 22q12.3
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
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT028750 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0010467 Process Gene expression IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
168890 9704 ENSG00000100362
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20472
Protein name Parvalbumin alpha (Alpha-parvalbumin) (Alpha-PV)
Protein function In muscle, parvalbumin is thought to be involved in relaxation after contraction (By similarity). It binds two calcium ions (PubMed:15122922, PubMed:39584689). {ECO:0000250|UniProtKB:P02624, ECO:0000269|PubMed:15122922, ECO:0000269|PubMed:395846
PDB 1RJV , 1RK9 , 9BB8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 41 → 108 EF-hand domain pair Domain
PF13833 EF-hand_8 68 → 110 EF-hand domain pair Domain
Sequence
Sequence length 110
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Benign rs145809194 RCV005911863
Show/Hide Text Mining Associations (46)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Chromophobe Associate 17449941
Adenoma Oxyphilic Associate 20926528
Alzheimer Disease Associate 32232904, 39650656
Amyotrophic Lateral Sclerosis Associate 39289471, 8692898
Autistic Disorder Inhibit 22936973, 26922658
Autistic Disorder Associate 28122807, 32345355, 33527113
Bipolar Disorder Associate 21135314, 23038240, 34172755
Bipolar Disorder Inhibit 21226980, 22936973
Brain Diseases Associate 24395782
Breast Neoplasms Associate 24395782