ANGPT4

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

Basic information

Region (hg38): 20:869899-916334

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.

• Inborn genetic diseases (25 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.

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	2
missense			21	4	1	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	4	3

Variants in ANGPT4

This is a list of pathogenic ClinVar variants found in the ANGPT4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-872977-G-A		not specified	Uncertain significance (Sep 27, 2021)
20-873061-C-T		not specified	Likely benign (Jun 12, 2023)
20-873079-C-T		not specified	Likely benign (Jan 05, 2022)
20-873083-G-T		not specified	Uncertain significance (Dec 02, 2022)
20-874330-T-G			Benign (Apr 20, 2018)
20-874373-C-T		not specified	Uncertain significance (Jun 14, 2022)
20-874392-C-T		not specified	Uncertain significance (Nov 17, 2022)
20-878251-G-C		not specified	Uncertain significance (Mar 16, 2022)
20-879782-C-T		not specified	Uncertain significance (Sep 12, 2023)
20-879800-G-A		not specified	Uncertain significance (Apr 25, 2023)
20-879811-G-C		not specified	Uncertain significance (May 08, 2023)
20-881179-G-A		not specified	Uncertain significance (Dec 15, 2022)
20-881197-C-T		not specified	Uncertain significance (Feb 07, 2023)
20-881286-G-T		not specified	Uncertain significance (Feb 22, 2023)
20-885102-C-T		not specified	Uncertain significance (Mar 16, 2022)
20-885123-A-C		not specified	Likely benign (Feb 23, 2023)
20-885183-C-T		not specified	Uncertain significance (Jan 04, 2024)
20-885201-C-G		not specified	Uncertain significance (Oct 05, 2023)
20-885236-G-C		not specified	Uncertain significance (Nov 10, 2022)
20-885265-G-C		not specified	Uncertain significance (Dec 21, 2023)
20-885287-T-A		not specified	Uncertain significance (Mar 06, 2023)
20-888381-T-C		not specified	Uncertain significance (Dec 21, 2023)
20-888390-A-C			Benign (Mar 29, 2018)
20-890304-T-C		not specified	Uncertain significance (Dec 07, 2021)
20-890327-C-T			Benign (Apr 20, 2018)

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