Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | PKD2L1 | contributors: mct/shn - updated : 22-11-2018 |
HGNC name | polycystic kidney disease 2-like 1 |
HGNC id | 9011 |
|
Location | 10q24.31 Physical location : 102.047.902 - 102.090.243 |
Synonym name | |
| |
| |
| |
| |
| |
Synonym symbol(s) | PKDL, PCL, PKD2L, P2L1, TRPP3 |
DNA |
TYPE | functioning gene |
STRUCTURE | 58.89 kb 16 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
---|
MAPPING | cloned | Y | linked | N | status | confirmed |
Map | cen - D10S1726 - D10S198 - PKD2L1 - D10S1266 - D10S192 - qter |
RNA |
TRANSCRIPTS | type | messenger |
---|
|
EXPRESSION |
Type | restricted |
tissue |
|
cells |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | fetal, pregnancy |
Text | highly, in tissues including kidney and liver |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
| |
| |
|
HOMOLOGY |
interspecies | ortholog to Pkd2l1, Mus musculus |
ortholog to Pkd2l1, Rattus norvegicus | |
ortholog to pkd2l1, Danio rerio | |
ortholog to PKD2L1, Pan troglodytes |
intraspecies | homolog to PKD2,highly |
Homologene |
FAMILY | polycystin protein family |
CATEGORY | transport channel |
SUBCELLULAR LOCALIZATION | plasma membrane |
intracellular | |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,endoplasmic reticulum | |
intracellular,cytoplasm,cytosolic,vesicle |
basic FUNCTION | |
| |
| |
| |
| |
| |
| |
| |
| |
| |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component | |
| |
|
INTERACTION |
DNA |
RNA |
small molecule |
protein | |
| |
| |
| |
| |
cell & other |
REGULATION |
activated by | by various acids when coexpressed in heterologous cells but not by other classes of tastants |
inhibited by | RACK1 (RACK1 inhibits the function of PKD2L1 channel on the plasma membrane in addition to reducing its total and plasma membrane expression) |
Other | downregulated in adult |
calcium modulated |
ASSOCIATED DISORDERS |
corresponding disease(s) |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |
deleted in mice with kidney and retinal defects |