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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (128)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 20926528
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32232904, 39650656 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 27671476, 31431685, 31580184
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 31431685
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29580900, 8692898
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 39289471, 8692898 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 27581300, 30814928
★★★★★
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 29471082
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29232412, 30089884, 31281833
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29232412, 30089884, 31281833
★★★★★
★☆☆☆☆
Found in Text Mining only