PKD2L2 (polycystin 2 like 2, transient receptor potential cation channel)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27039
Gene name Gene Name - the full gene name approved by the HGNC.
Polycystin 2 like 2, transient receptor potential cation channel
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PKD2L2
Synonyms (NCBI Gene) Gene synonyms aliases
TRPP5
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT441454 hsa-miR-9-3p PAR-CLIP 22100165
MIRT441454 hsa-miR-9-3p PAR-CLIP 22100165
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(9)
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA
GO:0005509 Function Calcium ion binding IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane 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
604669 9012 ENSG00000078795
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NZM6
Protein name Polycystin-2-like protein 2 (Polycystin-2L2) (Polycystic kidney disease 2-like 2 protein) (Polycystin-L2)
Protein function Exhibits a lower single conductance but no spontaneous channel activity (PubMed:16883570). May function as a regulator of calcium channels or a channel component involving Ca2(+) homeostasis (By similarity). {ECO:0000250|UniProtKB:Q9JLG4, ECO:00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08016 PKD_channel 75 → 497 Polycystin cation channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed only in testis (PubMed:10602361). Expressed also in brain and kidney (PubMed:10756092). {ECO:0000269|PubMed:10602361, ECO:0000269|PubMed:10756092}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed only in transformed lymphoblasts.
Sequence
Sequence length 624
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Kidney Failure Chronic Associate 36422197
Polycystic Kidney Autosomal Dominant Associate 36422197
Renal Insufficiency Chronic Associate 36422197