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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016112 16 - 3060 NP_057196 - 805 - 2019 31315976 NM_001253837 16 - 2812 NP_001240766 - 758 - 2019 31315976

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens Nervous brain       moderately Homo sapiens Respiratory lung       moderately Homo sapiens Urinary kidney       lowly Homo sapiens Visual eye       lowly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Urinary duct cell

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	PKD2L1 N terminus interacts with the receptor for activated C kinase 1 (RACK1), a scaffolding/anchoring protein implicated in various cellular functions , and PKD2L1 N-terminus is critical for dimerization
	six transmembrane segments (6TM)
	a large extracellular loop between TM5 and 6
	a C terminal tail with a EF-hand-like domain, C-terminal fragments having roles in its channel function , and C-terminal coiled-coil domain forms a trimer in solution and in crystal, and has a crucial role in the assembly and surface expression of the PKD1L3/TRPP3 complex

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	may act as a transducer of calcium-mediated signalling
	calcium modulated non selective cation channel permeable to Na+, K+, Ca++ ions
	transient receptor potential (TRP) channel members
	PKD1L3 and PKD2L1 heteromers may function as sour taste receptors
	is also part of an acid-triggered off-response cation channel complex
	is involved in hedgehog signaling, intestinal development, and sour tasting
	PKD2L1 and PKD2L1/PKD1L3 channels share the PKD2L1 trimerization process
	influx-operated Ca(2+) entry via PKD2L1 and PKD1L3 Channels facilitates sensory responses to polymodal transient stimuli
	selectivity filter is partially selective to calcium ions (Ca(2+)) moving into the cell, but blocked by high internal Ca(2+)concentrations, a unique feature of this transient receptor potential (TRP) channel family member
	PKD2L1 take part in hedgehog signaling in renal primary cilia and sour tasting coupling with PKD1L3
	inhibitory effect of PKD2L1 on cardiac hypertrophy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	protein constituent of integral membrane
	part of PKD1L3/PKD2L1 channel (a new type of ion channel, designated as an off-channel; activation of PKD1L3/PKD2L1 channels might occur shortly after acid stimulation, as a slight increase in pH from the initial acidification at pH 2.5 is sufficient to open the channels)
	PKD1L1-PKD2L1 heteromeric channel establishes the cilia as a unique calcium compartment within cells that modulates established hedgehog pathways

INTERACTION

DNA

RNA

small molecule

protein	Troponin I
	polycystic kidney disease 1-like 3, PKD1L3
	PKD1L1-PKD2L1 acts as a ciliary calcium channel controlling ciliary calcium concentration and thereby modifying SMO-activated GLI2 translocation and GLI1 expression
	PKD1L3, is a protein that associates with PKD1L2 in taste cells and may play a role in sour taste
	PKD1L3 associates with PKD2L1 in taste cells and may play a role in sour taste

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