PTGER4

prostaglandin E receptor 4, the group of Prostaglandin receptors

Basic information

Region (hg38): 5:40679914-40693735

Links

ENSG00000171522 ∙ NCBI:5734 ∙ OMIM:601586 ∙ HGNC:9596 ∙ Uniprot:P35408 ∙ 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 PTGER4 gene.

• Inborn genetic diseases (9 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGER4 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						0
missense			8	1	1	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	1

Variants in PTGER4

This is a list of pathogenic ClinVar variants found in the PTGER4 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-40681033-C-G		not specified	Uncertain significance (Sep 14, 2023)
5-40681249-C-T		not specified	Uncertain significance (Mar 31, 2023)
5-40681459-A-C		not specified	Uncertain significance (Jan 11, 2023)
5-40681524-C-A		not specified	Uncertain significance (Oct 12, 2021)
5-40681552-A-G		not specified	Uncertain significance (Jan 29, 2024)
5-40681591-G-A		not specified	Uncertain significance (Aug 03, 2022)
5-40681705-T-A		not specified	Uncertain significance (Sep 23, 2023)
5-40681715-A-C		not specified	Uncertain significance (Nov 05, 2021)
5-40681755-T-G		not specified	Uncertain significance (Aug 26, 2022)
5-40691791-G-A		not specified	Benign (Apr 17, 2015)
5-40691923-A-C		not specified	Uncertain significance (Nov 17, 2022)
5-40691982-G-T		not specified	Likely benign (Dec 21, 2023)
5-40692248-A-G		not specified	Uncertain significance (Jun 18, 2021)
5-40692292-G-A		not specified	Likely benign (Apr 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGER4	protein_coding	protein_coding	ENST00000302472	2	14238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.976	0.0245	125744	0	3	125747	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.21	183	288	0.635	0.0000143	3117
Missense in Polyphen		23	66.139	0.34775		760
Synonymous	0.179	123	126	0.980	0.00000620	1072
Loss of Function	3.45	1	15.8	0.0632	0.00000101	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000588	0.0000588
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000887	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Renin secretion - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Small Ligand GPCRs;Vitamin D Receptor Pathway;GPCRs, Class A Rhodopsin-like;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;eicosanoid metabolism;G alpha (s) signalling events;Prostanoid ligand receptors;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.0578
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.140
• hipred: Y
• hipred_score: 0.725
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.714

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptger4
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); skeleton phenotype; immune system phenotype; neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype

Zebrafish Information Network

• Gene name: ptger4a
• Affected structure: hematopoietic stem cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: inflammatory response;immune response;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;JNK cascade;response to mechanical stimulus;regulation of ossification;response to lipopolysaccharide;negative regulation of integrin activation;T-helper cell differentiation;negative regulation of cytokine secretion;positive regulation of cytokine secretion;negative regulation of inflammatory response;positive regulation of inflammatory response;regulation of stress fiber assembly;bone development;ERK1 and ERK2 cascade;cellular response to mechanical stimulus;cellular response to prostaglandin E stimulus;negative regulation of eosinophil extravasation
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: prostaglandin E receptor activity;protein binding