Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5816 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Parvalbumin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PVALB |
SynonymsGene synonyms aliases
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D22S749 |
ChromosomeChromosome number
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22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q12.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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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 |
Seizure |
Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 |
18495095 |
|
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 |
Hypotonic seizures |
Epileptic drop attack |
|
18495095 |
Jacksonian seizure |
Jacksonian Seizure |
|
18495095 |
Manic disorder |
Manic, Manic Disorder |
|
14708030 |
Psychosis |
Psychosis, Brief Reactive, Psychotic Disorders |
|
14708030 |
Schizoaffective disorder |
Schizoaffective Disorder |
|
14708030 |
Schizophreniform disorders |
Schizophreniform Disorders |
|
14708030 |
|
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