PKD1L3

polycystin 1 like 3, transient receptor potential channel interacting, the group of C-type lectin domain containing

Basic information

Region (hg38): 16:71929538-72000402

Links

ENSG00000277481

∙ NCBI:342372 ∙ OMIM:607895 ∙ HGNC:21716 ∙ Uniprot:Q7Z443 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PKD1L3 gene.

not_specified (257 variants)
not_provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PKD1L3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181536.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			235 clinvar	23 clinvar	1 clinvar	259
nonsense						0
start loss						0
frameshift				2 clinvar	2 clinvar	4
splice donor/acceptor (+/-2bp)						0
Total	0	0	235	25	4

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. {ECO:0000269|PubMed:12782129, ECO:0000269|PubMed:19812697, ECO:0000269|PubMed:23212381}.;
Pathway: Taste transduction - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.111

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.319

Mouse Genome Informatics

Gene name: Pkd1l3
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); taste/olfaction phenotype;

Gene ontology

Biological process: detection of chemical stimulus involved in sensory perception of sour taste;kidney development;cation transport;sensory perception of sour taste;detection of mechanical stimulus;calcium ion transmembrane transport;cellular response to acidic pH
Cellular component: plasma membrane;cell surface;membrane;cation channel complex;receptor complex;extracellular exosome
Molecular function: cation channel activity;calcium channel activity;protein binding;cation transmembrane transporter activity;carbohydrate binding;sour taste receptor activity