APLN

apelin, the group of Neuropeptides

Basic information

Region (hg38): X:129645259-129654956

Links

ENSG00000171388NCBI:8862OMIM:300297HGNC:16665Uniprot:Q9ULZ1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the APLN gene.

  • not_specified (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APLN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017413.5. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
8
clinvar
8
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 8 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
APLNprotein_codingprotein_codingENST00000307484 29694
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4590.45500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2393127.51.130.00000249467
Missense in Polyphen1713.2591.2821189
Synonymous-0.4001311.31.159.04e-7168
Loss of Function1.1601.570.001.00e-732

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Endogenous ligand for the apelin receptor (APLNR) (PubMed:10525157). Drives internalization of the apelin receptor (By similarity). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Hormone involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early coronary blood vessels formation (By similarity). Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). May also have a role in the central control of body fluid homeostasis by influencing vasopressin release and drinking behavior (By similarity). {ECO:0000250|UniProtKB:Q4TTN8, ECO:0000250|UniProtKB:Q9R0R3, ECO:0000250|UniProtKB:Q9R0R4, ECO:0000269|PubMed:10525157}.;
Pathway
Apelin signaling pathway - Homo sapiens (human);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
0.0288

Haploinsufficiency Scores

pHI
0.0117
hipred
N
hipred_score
0.170
ghis
0.450

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.00261

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Apln
Phenotype
homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye 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
apln
Affected structure
lymph vessel endothelium
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
angiogenesis;regulation of the force of heart contraction;immune response;signal transduction;G protein-coupled receptor signaling pathway;gastrulation;lactation;regulation of signaling receptor activity;negative regulation of gene expression;positive regulation of heat generation;negative regulation of fibroblast growth factor receptor signaling pathway;positive regulation of phosphorylation;drinking behavior;regulation of respiratory gaseous exchange;negative regulation of blood pressure;positive regulation of heart contraction;negative regulation of vasoconstriction;positive regulation of corticotropin secretion;positive regulation of corticotropin-releasing hormone secretion;apelin receptor signaling pathway;coronary vasculature development;positive regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of G protein-coupled receptor internalization;negative regulation of vascular smooth muscle cell proliferation;positive regulation of vascular endothelial cell proliferation
Cellular component
extracellular region;extracellular space;perinuclear region of cytoplasm
Molecular function
signaling receptor binding;hormone activity;apelin receptor binding;protein homodimerization activity