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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			109	13	2	124
nonsense						0
start loss						0
frameshift				1	3	4
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	109	14	6

Variants in PKD1L3

This is a list of pathogenic ClinVar variants found in the PKD1L3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-71934024-C-T			Benign (Jan 11, 2019)
16-71947511-CTTTG-C		Essential tremor	Benign (Nov 15, 2018)
16-71947527-TTC-T			Benign (May 29, 2018)
16-71947588-C-T		not specified	Likely benign (Jan 18, 2022)
16-71949893-A-G		not specified	Uncertain significance (Aug 28, 2023)
16-71949955-A-C		not specified	Uncertain significance (Feb 17, 2022)
16-71950003-A-C		not specified	Uncertain significance (Dec 12, 2022)
16-71950003-A-T		not specified	Uncertain significance (Mar 28, 2023)
16-71950005-A-C		not specified	Uncertain significance (Jan 18, 2023)
16-71950125-G-A		not specified	Uncertain significance (Mar 01, 2023)
16-71950128-C-T		not specified	Uncertain significance (Jan 04, 2022)
16-71950136-G-T		not specified	Uncertain significance (Jun 16, 2024)
16-71950165-C-G		not specified	Uncertain significance (Dec 27, 2023)
16-71950185-T-A		not specified	Uncertain significance (May 24, 2024)
16-71950197-G-C		not specified	Uncertain significance (Jul 22, 2022)
16-71950202-T-G		not specified	Uncertain significance (Dec 20, 2022)
16-71950207-G-A			Benign (Apr 10, 2018)
16-71950211-T-G		not specified	Uncertain significance (Apr 05, 2023)
16-71950281-A-G		not specified	Likely benign (Aug 12, 2021)
16-71951567-G-A		not specified	Uncertain significance (Apr 27, 2024)
16-71951579-G-A		not specified	Uncertain significance (Feb 15, 2023)
16-71951629-C-A		not specified	Uncertain significance (Aug 04, 2022)
16-71951647-A-G		not specified	Uncertain significance (Apr 26, 2024)
16-71951686-C-G		not specified	Uncertain significance (Mar 01, 2023)
16-71951696-G-A		not specified	Uncertain significance (May 26, 2024)

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

• 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