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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 27039
Gene name Polycystin 2 like 2, transient receptor potential cation channel
Gene symbol PKD2L2
Synonyms (NCBI Gene)
TRPP5
Chromosome 5
Chromosome location 5q31.2
miRNA miRNA information provided by mirtarbase database.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604669 9012 ENSG00000078795
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUDITORY SYSTEM DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 28416818
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic Kidney failure Pubtator 36422197 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Polycystic Kidney Autosomal Dominant Polycystic kidney disease Pubtator 36422197 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only