PYY

peptide YY, the group of Neuropeptides

Basic information

Region (hg38): 17:43952732-44004469

Links

ENSG00000131096 ∙ NCBI:5697 ∙ OMIM:600781 ∙ HGNC:9748 ∙ Uniprot:P10082 ∙ 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 PYY gene.

• Inborn genetic diseases (10 variants)
• not provided (9 variants)
• Hyperammonemia, type III (1 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PYY 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			10		3	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		6	7
Total	0	0	11	0	10

Variants in PYY

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

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

Position	Type	Phenotype	Significance	ClinVar
17-43952807-G-T			Benign (Jul 09, 2018)
17-43952978-G-A		not specified	Uncertain significance (Dec 19, 2023)
17-43953041-G-A			Benign (Jul 09, 2018)
17-43953127-T-C		not specified	Uncertain significance (Dec 19, 2022)
17-43953131-C-T		not specified	Uncertain significance (Mar 17, 2023)
17-43953137-C-T		not specified	Uncertain significance (Mar 02, 2023)
17-43953146-A-C		not specified	Uncertain significance (Apr 07, 2022)
17-43953152-T-C		not specified	Uncertain significance (Jun 29, 2023)
17-43953160-A-G			Benign (Aug 16, 2018)
17-43953163-G-C			Benign (Jul 09, 2018)
17-43953169-G-A		not specified	Uncertain significance (Jul 19, 2022)
17-43953169-G-C		not specified	Uncertain significance (Oct 17, 2023)
17-43953188-A-C		not specified	Uncertain significance (Jul 19, 2023)
17-43953299-T-G		Obesity	Uncertain significance (Feb 01, 2006)
17-43953306-T-C		not specified	Uncertain significance (May 18, 2023)
17-43953312-G-T		not specified	Uncertain significance (Jul 30, 2023)
17-43953334-G-A			Benign (Jul 18, 2018)
17-43953335-G-A		not specified	Uncertain significance (Jan 04, 2022)
17-43953375-G-C			Benign (Dec 19, 2019)
17-43953444-C-G		not specified	Uncertain significance (Dec 14, 2023)
17-43953470-C-T		not specified	Uncertain significance (Oct 25, 2023)
17-43953963-C-T		not specified	Benign (Jan 02, 2020)
17-44001322-C-A			Benign (Feb 04, 2019)
17-44001507-TCTC-T			Benign (Jul 09, 2018)
17-44001566-C-T		Hyperammonemia, type III	Likely pathogenic (Jul 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PYY	protein_coding	protein_coding	ENST00000360085	3	51732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0118	0.656	125673	0	7	125680	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.304	63	56.6	1.11	0.00000260	592
Missense in Polyphen		18	16.373	1.0994		197
Synonymous	0.0331	28	28.2	0.992	0.00000131	214
Loss of Function	0.477	3	4.03	0.744	1.71e-7	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000193	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000359	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility.
• Pathway: Sympathetic Nerve Pathway (Neuroeffector Junction);SCFA and skeletal muscle substrate metabolism;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.226
• rvis_EVS: 0.52
• rvis_percentile_EVS: 80.46

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.292

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.100

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Pyy
• Phenotype: skeleton 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); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;feeding behavior;cell population proliferation;regulation of signaling receptor activity
• Cellular component: extracellular region;extracellular space
• Molecular function: G protein-coupled receptor binding;hormone activity;neuropeptide hormone activity;protein binding