ANGPT4

angiopoietin 4, the group of Receptor ligands|Fibrinogen C domain containing

Basic information

Region (hg38): 20:869900-916334

Links

ENSG00000101280 ∙ NCBI:51378 ∙ OMIM:603705 ∙ HGNC:487 ∙ Uniprot:Q9Y264 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANGPT4 gene.

• not_specified (67 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPT4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015985.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			62	4	1	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	5	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANGPT4	protein_coding	protein_coding	ENST00000381922	9	43682

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.55e-15	0.0245	125469	1	278	125748	0.00111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.126	292	286	1.02	0.0000159	3272
Missense in Polyphen		82	88.966	0.9217		1002
Synonymous	0.365	116	121	0.958	0.00000717	962
Loss of Function	0.296	23	24.6	0.936	0.00000106	263

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000392	0.000392
Ashkenazi Jewish	0.00	0.00
East Asian	0.000228	0.000217
Finnish	0.0103	0.0102
European (Non-Finnish)	0.000336	0.000334
Middle Eastern	0.000228	0.000217
South Asian	0.000131	0.000131
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis. {ECO:0000269|PubMed:15284220}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Rac1-Pak1-p38-MMP-2 pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Tie2 Signaling;Cell surface interactions at the vascular wall;Hemostasis;Angiopoietin receptor Tie2-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.773
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.65

Haploinsufficiency Scores

• pHI: 0.0877
• hipred: N
• hipred_score: 0.170
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.766

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Angpt4

Gene ontology

• Biological process: angiogenesis;endothelial cell proliferation;activation of transmembrane receptor protein tyrosine kinase activity;Notch signaling pathway;positive regulation of endothelial cell migration;negative regulation of angiogenesis;negative regulation of apoptotic process;positive regulation of blood vessel endothelial cell migration;negative regulation of blood vessel endothelial cell migration;positive regulation of angiogenesis;positive regulation of peptidyl-tyrosine phosphorylation;leukocyte migration;cellular response to hypoxia
• Cellular component: extracellular region;extracellular space
• Molecular function: transmembrane receptor protein tyrosine kinase activator activity;receptor tyrosine kinase binding