PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9033 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Polycystin 2 like 1, transient receptor potential cation channel |
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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PKD2L1 |
SynonymsGene synonyms aliases
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PCL, PKD2L, PKDL, TRPP3 |
ChromosomeChromosome number
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10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This pro |
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
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UniProt ID |
Q9P0L9 |
Protein name |
Polycystin-2-like protein 1 (Polycystin-2L1) (Polycystic kidney disease 2-like 1 protein) (Polycystin-2 homolog) (Polycystin-L) (Polycystin-L1) |
Protein function |
Homotetrameric, non-selective cation channel that is permeable to sodium, potassium, magnesium and calcium (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:30004384). Also forms functionnal heteromeric |
PDB |
3TE3
,
4GIF
,
6DU8
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF08016 |
PKD_channel |
145 → 567 |
Polycystin cation channel |
Family |
PF18109 |
Fer4_24 |
702 → 736 |
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Domain |
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Sequence |
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Sequence length |
805 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 |
26503814 |
Kidney disease |
Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
29545352 |
Lung carcinoma |
Squamous cell carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 |
28604730 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cardiovascular diseases |
Cardiovascular Diseases |
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30595370 |
Kidney failure |
Kidney Failure, Chronic |
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29545352 |
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