polycystin 1 like 2 (gene/pseudogene)

Summary
Gene Symbol
  • PKD1L2
Aliases
  • KIAA1879
Organism
Homo sapiens (human)
External Links
NCBI Gene
114780
HGNC
21715
KEGG Gene ID
hsa:114780
PubChem
114780
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disulfide bond
  • Glycoprotein
  • Ion channel
  • Lectin
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q7Z442
  • PC1-like 2 protein
  • Polycystic kidney disease protein 1-like 2
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
detection of mechanical stimulus
calcium ion transmembrane transport
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
membrane
KEGG BRITE Database
Orthology
K04988
Name
polycystin 1L2
References
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050778 Meckel syndrome
DOID:0080199 colorectal carcinoma
DOID:1029 familial periodic paralysis
DOID:423 myopathy
DOID:440 neuromuscular disease
DOID:5672 large intestine cancer
DOID:898 autosomal dominant polycystic kidney disease
DOID:9256 colorectal cancer
DOID:9955 hypoplastic left heart syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024