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PVALB (parvalbumin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5816
Gene nameGene Name - the full gene name approved by the HGNC.
Parvalbumin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PVALB
SynonymsGene synonyms aliases
D22S749
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Causal
Disease name Disease term 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 rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 14708030
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder, Depression, Bipolar 14708030
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma rs137853247 16927643
Clonic seizures Clonic Seizures 18495095
Tumor Hurthle Cell Tumor 16927643

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