APLNR

apelin receptor

Basic information

Region (hg38): 11:57233577-57237250

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.

not_specified (56 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. These statistics are base on transcript: NM_000005161.6. 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				2 clinvar		2
missense			56 clinvar	1 clinvar	1 clinvar	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	3	1

Loading clinvar variants...

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

loftool
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