APLNR

apelin receptor

Basic information

Region (hg38): 11:57233576-57237250

Previous symbols: [ "AGTRL1" ]

Links

ENSG00000134817 ∙ NCBI:187 ∙ OMIM:600052 ∙ HGNC:339 ∙ Uniprot:P35414 ∙ 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 APLNR gene.

• Inborn genetic diseases (15 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APLNR 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				2		2
missense			15	1	1	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	1

Variants in APLNR

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

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

Position	Type	Phenotype	Significance	ClinVar
11-57236033-G-A			Likely benign (Jul 10, 2018)
11-57236083-G-C		not specified	Uncertain significance (Nov 05, 2021)
11-57236107-C-T			Benign (Feb 08, 2018)
11-57236121-G-T		not specified	Uncertain significance (Jul 08, 2022)
11-57236194-A-C		not specified	Uncertain significance (Sep 28, 2021)
11-57236275-G-A		not specified	Uncertain significance (Oct 04, 2022)
11-57236284-G-A		not specified	Uncertain significance (Oct 17, 2023)
11-57236308-G-A		not specified	Uncertain significance (Dec 09, 2023)
11-57236336-G-T		not specified	Uncertain significance (Dec 20, 2022)
11-57236374-C-A		not specified	Uncertain significance (Mar 29, 2023)
11-57236383-C-A		not specified	Uncertain significance (Jul 19, 2023)
11-57236394-G-A		not specified	Uncertain significance (Dec 18, 2023)
11-57236465-C-A		not specified	Uncertain significance (Jan 06, 2023)
11-57236475-G-A		not specified	Uncertain significance (Oct 12, 2021)
11-57236494-C-T		not specified	Uncertain significance (Dec 27, 2023)
11-57236553-G-T		not specified	Uncertain significance (Oct 12, 2021)
11-57236563-C-T		not specified	Uncertain significance (Jul 17, 2023)
11-57236577-C-T		not specified	Uncertain significance (Jul 20, 2022)
11-57236647-G-T		not specified	Uncertain significance (Oct 27, 2022)
11-57236656-C-T		not specified	Uncertain significance (Jan 24, 2023)
11-57236662-C-T		not specified	Uncertain significance (Dec 13, 2023)
11-57236673-A-G		not specified	Uncertain significance (Jul 09, 2021)
11-57236674-C-T		not specified	Uncertain significance (Mar 21, 2023)
11-57236734-G-A		not specified	Uncertain significance (Apr 18, 2023)
11-57236763-G-A		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APLNR	protein_coding	protein_coding	ENST00000606794	1	3659

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.789	0.210	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.802	216	252	0.858	0.0000163	2487
Missense in Polyphen		76	99.308	0.7653		967
Synonymous	-2.27	137	107	1.28	0.00000717	788
Loss of Function	2.56	1	9.50	0.105	4.04e-7	108

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)- derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936). {ECO:0000250|UniProtKB:P79960, ECO:0000250|UniProtKB:Q7SZP9, ECO:0000250|UniProtKB:Q9WV08, ECO:0000269|PubMed:11090199, ECO:0000269|PubMed:25639753, ECO:0000269|PubMed:28137936}.
• Pathway: Apelin signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.191

Intolerance Scores

• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.31

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.418
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.146

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aplnr
• Phenotype: growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; 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); reproductive 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)

Zebrafish Information Network

• Gene name: aplnra
• Affected structure: thoracic duct
• Phenotype tag: abnormal
• Phenotype quality: has fewer parts of type

Gene ontology

• Biological process: angiogenesis;vasculogenesis;G protein-coupled receptor signaling pathway;gastrulation;heart development;adult heart development;negative regulation of cAMP-mediated signaling;positive regulation of angiogenesis;regulation of body fluid levels;positive regulation of release of sequestered calcium ion into cytosol;coronary vasculature development;positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;positive regulation of inhibitory G protein-coupled receptor phosphorylation
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;signaling receptor activity