Gene Gene information from NCBI Gene database.
Entrez ID 8862
Gene name Apelin
Gene symbol APLN
Synonyms (NCBI Gene)
APELXNPEP2
Chromosome X
Chromosome location Xq26.1
Summary This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate di
miRNA miRNA information provided by mirtarbase database.
152
miRTarBase ID miRNA Experiments Reference
MIRT047924 hsa-miR-30c-5p CLASH 23622248
MIRT046134 hsa-miR-30b-5p CLASH 23622248
MIRT573091 hsa-miR-6729-3p PAR-CLIP 20371350
MIRT573092 hsa-miR-4286 PAR-CLIP 20371350
MIRT573090 hsa-miR-361-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0002026 Process Regulation of the force of heart contraction IEA
GO:0002031 Process G protein-coupled receptor internalization IDA 10644702
GO:0002031 Process G protein-coupled receptor internalization IMP 12582207
GO:0003085 Process Negative regulation of systemic arterial blood pressure IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300297 16665 ENSG00000171388
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULZ1
Protein name Apelin (APJ endogenous ligand) [Cleaved into: Apelin-36; Apelin-31; Apelin-28; Apelin-13]
Protein function Peptide hormone that functions as endogenous ligand for the G-protein-coupled apelin receptor (APLNR/APJ), that plays a role in cadiovascular homeostasis (PubMed:10525157, PubMed:22810587, PubMed:35817871, PubMed:38428423). Functions as a balanc
PDB 8XQE , 8XQF , 8XZG , 8XZH , 8XZJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15360 Apelin 23 77 APJ endogenous ligand Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain with highest levels in the frontal cortex, thalamus, hypothalamus and midbrain (PubMed:10617103). Secreted by the mammary gland into the colostrum and the milk. {ECO:0000269|PubMed:10617103}.
Sequence
Sequence length 77
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Apelin signaling pathway
  Peptide ligand-binding receptors
G alpha (i) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 27543713, 31429306
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24316062
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31547096
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31070305
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31816601 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 25486928 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 25486928
★☆☆☆☆
Found in Text Mining only
Angina Stable Angina pectoris Pubtator 19015606 Inhibit
★☆☆☆☆
Found in Text Mining only
Angina Stable Angina pectoris Pubtator 33881940 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28065733, 29680708, 31199948, 31513835
★☆☆☆☆
Found in Text Mining only