PVALB (parvalbumin)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5816
Gene name Gene Name - the full gene name approved by the HGNC.
Parvalbumin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PVALB
Synonyms (NCBI Gene) Gene synonyms aliases
D22S749
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005634 Component Nucleus IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0030424 Component Axon IEA
GO:0032420 Component Stereocilium IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
168890 9704 ENSG00000100362
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Oxyphilic adenoma Oxyphilic Adenoma rs869312882 16927643
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 16927643
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney rs121913668, rs121913670, rs121913243, rs786202724 16927643
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 14708030
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 16927643 ClinVar
Show/Hide Text Mining Associations (46)
Associations from Text Mining
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