APELA

protein-coding

apelin receptor early endogenous ligand, the group of Receptor ligands

Gene summary

This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]

MANE transcript

NM_001297550.2

Inheritance

—

ClinVar variants

B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr4:164,877,178-164,898,965

External References & Databases

Ensembl (ENSG00000248329)

NCBI Gene (100506013)

Transcript & Mutation Effects

hg38 • Region Span ~21.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to APELA variants in ClinVar

1 Conditions Cataloged

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001297550.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001297550.2	RefSeq	NP_001284479.1	2	MANE Select
ENST00000507152.6	Ensembl	ENSP00000484618.1	2	MANE Select
ENST00000510062.5	Ensembl	ENSP00000478306.1	2	Standard
ENST00000515275.1	Ensembl	ENSP00000480045.1	2	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
apela	Danio rerio	Structure: nucleate erythrocyte Quality: increased accumulation abnormal

Gene / Model

Organism

Observed Phenotype

apela

Danio rerio

Structure: nucleate erythrocyte

Quality: increased accumulation

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

angiogenesis
vasculogenesis
endoderm development
heart development
mesoderm migration involved in gastrulation

Molecular Function

hormone activity
apelin receptor binding

Cellular Component

extracellular region
extracellular space

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Endogenous ligand for the apelin receptor (APLNR) (PubMed:25639753, PubMed:28137936). Hormone required for mesendodermal differentiation, blood vessels formation and heart morphogenesis during early development and for adult cardiovascular homeostasis (PubMed:25639753, PubMed:28137936). Drives internalization of APLNR. Acts as a motogen by promoting mesendodermal cell migration during gastrulation by binding and activating APLNR. Acts as an early embryonic regulator of cellular movement with a role in migration and development of cardiac progenitor cells. May act as a chemoattractant for the activation of angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis. Positively regulates sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel sprouting. Plays a role in placental vascular development; promotes placental trophoblast invasion and spiral artery remodeling in the uterus. Involved in the regulation of maternal cardiovascular homeostasis to prevent gestational hypertension and for potent cardioprotective functions during heart failure. Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). {ECO:0000250|UniProtKB:P0DMC2, ECO:0000250|UniProtKB:P0DMC4, ECO:0000250|UniProtKB:P0DP76, ECO:0000269|PubMed:25639753, ECO:0000269|PubMed:28137936}.;