APELA
Basic information
Region (hg38): 4:164877178-164898965
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the APELA gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 2 | 0 |
Variants in APELA
This is a list of pathogenic ClinVar variants found in the APELA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-164877355-T-C | Likely benign (Jun 11, 2018) | |||
| 4-164879002-T-C | Likely benign (Dec 31, 2019) |
GnomAD
Source:
dbNSFP
Source:
- 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}.;
Mouse Genome Informatics
- Gene name
- Apela
- Phenotype
- embryo phenotype; reproductive 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); 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); renal/urinary system phenotype; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- apela
- Affected structure
- nucleate erythrocyte
- Phenotype tag
- abnormal
- Phenotype quality
- increased accumulation
Gene ontology
- Biological process
- angiogenesis;vasculogenesis;endoderm development;heart development;mesoderm migration involved in gastrulation;adult heart development;regulation of signaling receptor activity;embryonic heart tube development;positive regulation of angiogenesis;positive regulation of heart contraction;apelin receptor signaling pathway;placenta blood vessel development;coronary vasculature development;positive regulation of ERK1 and ERK2 cascade;mesendoderm migration;cell migration involved in mesendoderm migration;positive regulation of trophoblast cell migration;positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;positive regulation of G protein-coupled receptor internalization
- Cellular component
- extracellular region;extracellular space
- Molecular function
- hormone activity;apelin receptor binding