Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	100506013
Gene name	Apelin receptor early endogenous ligand
Gene symbol	APELA
Synonyms (NCBI Gene)	ELAEndetdl
Chromosome	4
Chromosome location	4q32.3
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.

39 Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0002031	Process	G protein-coupled receptor internalization	IDA	10644702
GO:0002031	Process	G protein-coupled receptor internalization	IMP	12582207
GO:0005179	Function	Hormone activity	IDA	35817871
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	IMP	25639753, 28137936
GO:0005179	Function	Hormone activity	ISS
GO:0005576	Component	Extracellular region	IDA	24316148, 28137936
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	35817871
GO:0005615	Component	Extracellular space	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	35817871
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	35817871
GO:0007369	Process	Gastrulation	IEA
GO:0007492	Process	Endoderm development	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007509	Process	Mesoderm migration involved in gastrulation	ISS
GO:0007512	Process	Adult heart development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031704	Function	Apelin receptor binding	IDA	28137936
GO:0031704	Function	Apelin receptor binding	IEA
GO:0031704	Function	Apelin receptor binding	ISS
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0045766	Process	Positive regulation of angiogenesis	IMP	25639753
GO:0045823	Process	Positive regulation of heart contraction	ISS
GO:0060183	Process	Apelin receptor signaling pathway	IDA	25639753
GO:0060183	Process	Apelin receptor signaling pathway	IEA
GO:0060183	Process	Apelin receptor signaling pathway	IMP	28137936
GO:0060183	Process	Apelin receptor signaling pathway	ISS
GO:0060674	Process	Placenta blood vessel development	ISS
GO:0060976	Process	Coronary vasculature development	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0090133	Process	Mesendoderm migration	ISS
GO:0090134	Process	Cell migration involved in mesendoderm migration	ISS
GO:1901165	Process	Positive regulation of trophoblast cell migration	IMP	28663440
GO:1903589	Process	Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	ISS
GO:1904022	Process	Positive regulation of G protein-coupled receptor internalization	IMP	25639753

MIM	HGNC	e!Ensembl
615594	48925	ENSG00000248329

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	P0DMC3
Protein name	Apelin receptor early endogenous ligand (Protein Elabela) (ELA) (Protein Toddler)
Protein function	Peptide hormone that functions as endogenous ligand for the G-protein-coupled apelin receptor (APLNR/APJ), that plays a role in the regulation of normal cardiovascular function and fluid homeostasis (PubMed:25639753, PubMed:28137936, PubMed:3581
PDB	7W0N , 7W0O , 7W0P
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Expressed in the intima of blood vessels (PubMed:28137936). Expressed in endothelial cells in blood vessels in the heart and lung (PubMed:28137936). Expressed in cytotrophoblasts and syncytiotrophoblasts of first-trimester placental ti
Sequence	MRFQQFLFAFFIFIMSLLLISGQRPVNLTMRRKLRKHNCLQRRCMPLHSRVPFP
Sequence length	54
Interactions	View interactions

KEGG Pathway
Neuroactive ligand-receptor interaction
Apelin signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	32595297	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29079036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28386233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	35748053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32208782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	31752949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	38237563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28137936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29079036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple syrup urine disease	Pubtator	19715473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28222221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22024988, 29079036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29079036		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29079036		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with APELA across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for APELA.

Diseases Linked via Similar Genes Diseases curated for genes most similar to APELA (see Related Genes above), that are NOT already directly curated for APELA itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to APELA.

APELA (apelin receptor early endogenous ligand)

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