AGTRAP

angiotensin II receptor associated protein

Basic information

Region (hg38): 1:11736084-11754802

Links

ENSG00000177674 ∙ NCBI:57085 ∙ OMIM:608729 ∙ HGNC:13539 ∙ Uniprot:Q6RW13 ∙ 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 AGTRAP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AGTRAP 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				3		3
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	4	0

Variants in AGTRAP

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

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

Position	Type	Phenotype	Significance	ClinVar
1-11736219-C-G		not specified	Uncertain significance (Sep 27, 2021)
1-11747442-G-A		not specified	Uncertain significance (Dec 14, 2021)
1-11747484-C-T		not specified	Uncertain significance (Sep 22, 2023)
1-11747489-C-G		not specified	Uncertain significance (Dec 14, 2022)
1-11747519-C-T		not specified	Uncertain significance (Apr 13, 2022)
1-11747520-G-A		not specified	Uncertain significance (Aug 26, 2024)
1-11747528-A-T		not specified	Uncertain significance (Jun 07, 2023)
1-11747534-G-A		not specified	Uncertain significance (Dec 15, 2022)
1-11748453-C-A		not specified	Likely benign (Dec 15, 2023)
1-11748471-C-G		not specified	Uncertain significance (Jan 14, 2025)
1-11748476-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-11748478-C-G		not specified	Uncertain significance (Nov 28, 2023)
1-11748503-G-A		not specified	Uncertain significance (Apr 01, 2024)
1-11748530-G-C		not specified	Uncertain significance (Sep 29, 2023)
1-11748546-G-A		not specified	Likely benign (Nov 28, 2023)
1-11748550-T-G		not specified	Uncertain significance (Jan 17, 2025)
1-11748562-G-A		not specified	Uncertain significance (Feb 19, 2025)
1-11748583-C-T		not specified	Uncertain significance (Jun 23, 2023)
1-11748584-G-A		not specified	Uncertain significance (Aug 11, 2024)
1-11748585-C-T		not specified	Likely benign (Oct 04, 2024)
1-11750100-C-A		not specified	Uncertain significance (Aug 10, 2024)
1-11750100-C-T		not specified	Uncertain significance (Aug 02, 2021)
1-11750182-G-A		not specified	Likely benign (Jun 21, 2022)
1-11750182-G-T		not specified	Uncertain significance (Jul 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AGTRAP	protein_coding	protein_coding	ENST00000314340	5	18719

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.188	0.767	125729	0	18	125747	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.450	93	106	0.877	0.00000691	1021
Missense in Polyphen		34	41.698	0.81538		393
Synonymous	-0.693	51	45.1	1.13	0.00000302	336
Loss of Function	1.66	2	6.62	0.302	2.83e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity. {ECO:0000269|PubMed:12960423}.
• Pathway: Disease;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction (Consensus)

Intolerance Scores

• loftool: 0.518
• rvis_EVS: -0.12
• rvis_percentile_EVS: 45.13

Haploinsufficiency Scores

• pHI: 0.118
• hipred: Y
• hipred_score: 0.600
• ghis: 0.575

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.902

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Agtrap
• 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); renal/urinary system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: response to hypoxia;regulation of blood pressure;angiotensin-activated signaling pathway
• Cellular component: Golgi membrane;nucleoplasm;endoplasmic reticulum membrane;cytosol;plasma membrane;cell cortex;integral component of membrane;cytoplasmic vesicle membrane;intracellular membrane-bounded organelle
• Molecular function: angiotensin type II receptor activity;protein binding