AGTRAP
gene geneOn this page
Also known as ATRAP
Summary
AGTRAP (angiotensin II receptor associated protein, HGNC:13539) is a protein-coding gene on chromosome 1p36.22, encoding Type-1 angiotensin II receptor-associated protein (Q6RW13). Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalization as well as mechanism of receptor desensitization such as phosphorylation.
This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms.
Source: NCBI Gene 57085 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 53 total — 2 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_020350
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13539 |
| Approved symbol | AGTRAP |
| Name | angiotensin II receptor associated protein |
| Location | 1p36.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATRAP |
| Ensembl gene | ENSG00000177674 |
| Ensembl biotype | protein_coding |
| OMIM | 608729 |
| Entrez | 57085 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000314340, ENST00000376627, ENST00000376629, ENST00000376637, ENST00000400895, ENST00000452018, ENST00000471765, ENST00000476309, ENST00000476512, ENST00000491346, ENST00000494437, ENST00000510878, ENST00000513739, ENST00000514733, ENST00000856549, ENST00000856550, ENST00000856551, ENST00000929521
RefSeq mRNA: 5 — MANE Select: NM_020350
NM_001040194, NM_001040195, NM_001040196, NM_001040197, NM_020350
CCDS: CCDS136, CCDS30585, CCDS30586, CCDS41248, CCDS44056
Canonical transcript exons
ENST00000314340 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001901851 | 11750077 | 11750769 |
| ENSE00001954756 | 11736136 | 11736235 |
| ENSE00003499860 | 11745803 | 11745837 |
| ENSE00003521575 | 11748415 | 11748610 |
| ENSE00003637198 | 11747440 | 11747545 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 98.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.3382 / max 358.5780, expressed in 1819 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 639 | 40.4662 | 1817 |
| 638 | 2.3957 | 1379 |
| 637 | 1.4763 | 1038 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.55 | gold quality |
| monocyte | CL:0000576 | 98.22 | gold quality |
| leukocyte | CL:0000738 | 98.21 | gold quality |
| right uterine tube | UBERON:0001302 | 97.84 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.60 | silver quality |
| blood | UBERON:0000178 | 96.63 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.33 | gold quality |
| spleen | UBERON:0002106 | 95.18 | gold quality |
| right lung | UBERON:0002167 | 95.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.87 | gold quality |
| bone marrow | UBERON:0002371 | 94.50 | gold quality |
| decidua | UBERON:0002450 | 94.40 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.25 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.02 | gold quality |
| apex of heart | UBERON:0002098 | 93.82 | gold quality |
| pericardium | UBERON:0002407 | 93.81 | gold quality |
| body of pancreas | UBERON:0001150 | 93.73 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.47 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.41 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.37 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.37 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.05 | gold quality |
| prostate gland | UBERON:0002367 | 93.05 | gold quality |
| left coronary artery | UBERON:0001626 | 92.91 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.84 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.81 | gold quality |
| tibial nerve | UBERON:0001323 | 92.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.69 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.62 | gold quality |
| coronary artery | UBERON:0001621 | 92.58 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 23.63 |
| E-ANND-3 | yes | 8.30 |
| E-CURD-84 | no | 429.03 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, CREM, NFKB, RUNX3, SP1, USF1, USF2
miRNA regulators (miRDB)
30 targeting AGTRAP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-1911-3P | 99.15 | 66.17 | 528 |
| HSA-MIR-6768-3P | 99.14 | 67.38 | 1319 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-648 | 98.64 | 66.13 | 553 |
| HSA-MIR-6810-5P | 98.29 | 66.21 | 975 |
| HSA-MIR-5691 | 98.23 | 67.02 | 1335 |
| HSA-MIR-6805-3P | 98.23 | 67.02 | 1334 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-7976 | 95.75 | 65.67 | 1186 |
| HSA-MIR-324-5P | 95.68 | 65.20 | 560 |
| HSA-MIR-874-3P | 95.02 | 65.66 | 806 |
Literature-anchored findings (GeneRIF, showing 17)
- cloned a new human gene cDNA that codes for a homolog of the murine Agtrap protein (PMID:11733189)
- isolation of a novel protein, ARAP1, which promotes recycling of angiotensin(1A) to the plasma membrane in HEK-293 cells (PMID:14559250)
- mRNA is detected in all human tissues; cellular hypertrophy in cultured rat vascular smooth muscle and renal proximal tubular cells. (PMID:14985364)
- CAML is an important signal transducer for the actions of Ang II in regulating the calcineurin-NFAT pathway and the interaction of CAML with ATRAP may mediate the Ang II actions in vascular physiology (PMID:15668245)
- Endogenous increases in angiotensin II during dehydration contribute to dehydration-associated sympathoexcitation. (PMID:19805740)
- Small interfering RNA significantly attenuates angiotensin II type 1 receptor-stimulated inositol phosphate formation. (PMID:20018811)
- CSF angiotensin II, ACE, and ACE2 levels are decreased in neuromyelitis optica/NMO spectrum disorder patients with anti-AQP4 antibody, reflecting severe destruction of perivascular astrocytes (PMID:20541774)
- the GG genotype of the AGTRAP rs11121816 T/G single nucleotide polymorphism was associated with increased mortality in two cohorts of patients who had septic shock. (PMID:21423001)
- The phosphatidylinositol transfer protein RdgBbeta binds 14-3-3 via its unstructured C-terminus, whereas its lipid-binding domain interacts with the integral membrane protein ATRAP (angiotensin II type I receptor-associated protein). (PMID:21728994)
- ATRAP, a directly interacting and functionally inhibiting molecule of AT1R, plays a protective role against the development of systemic insulin resistance via regulatory effects on adipose tissue function. (PMID:23902639)
- A role for AT1 receptor-associated proteins in blood pressure regulation (PMID:25562590)
- Leukocyte ATRAP is an emerging marker capable of reflecting the systemic and leukocyte inflammatory profile, and plays a role as an anti-inflammatory factor in the pathophysiology of non-communicable diseases. (PMID:29407599)
- There was positive association between A1166C AT1R polymorphism and susceptibility of type-2 diabetics to diabetic nephropathy (DN) in the Malay Indonesian population. (PMID:30630996)
- Angiotensin II type 1 receptor-associated protein deficiency attenuates sirtuin1 expression in an immortalised human renal proximal tubule cell line. (PMID:31719572)
- The pathophysiological role of angiotensin receptor-binding protein in hypertension and kidney diseases: Oshima Award Address 2019. (PMID:32112267)
- S-adenosylmethionine upregulates the angiotensin receptor-binding protein ATRAP via the methylation of HuR in NAFLD. (PMID:33753727)
- USF1-ATRAP-PBX3 Axis Promote Breast Cancer Glycolysis and Malignant Phenotype by Activating AKT/mTOR Signaling. (PMID:35414770)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | agtrap | ENSDARG00000077082 |
| mus_musculus | Agtrap | ENSMUSG00000029007 |
| rattus_norvegicus | Agtrap | ENSRNOG00000008619 |
| drosophila_melanogaster | CG32638 | FBGN0052638 |
Protein
Protein identifiers
Type-1 angiotensin II receptor-associated protein — Q6RW13 (reviewed: Q6RW13)
Alternative names: AT1 receptor-associated protein
All UniProt accessions (4): Q6RW13, D6RB40, D6RBK6, X6R9H3
UniProt curated annotations — full annotation on UniProt →
Function. Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalization as well as mechanism of receptor desensitization such as phosphorylation. Also induces a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity.
Subunit / interactions. Interacts with RACK1, and with the C-terminal region of AGTR1.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane. Cytoplasmic vesicle membrane.
Tissue specificity. Ubiquitous but more abundant in kidney, heart, pancreas and thyroid.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6RW13-1 | 1 | yes |
| Q6RW13-2 | 2 | |
| Q6RW13-3 | 3 | |
| Q6RW13-5 | 5 | |
| Q6RW13-4 | 4 |
RefSeq proteins (5): NP_001035284, NP_001035285, NP_001035286, NP_001035287, NP_065083* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009436 | AGTRAP | Family |
Pfam: PF06396
UniProt features (22 total): modified residue 5, topological domain 4, splice variant 4, transmembrane region 3, sequence conflict 2, region of interest 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6RW13-F1 | 80.97 | 0.60 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 126, 127, 135, 138, 153
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions |
| R-HSA-1643685 | Disease |
| R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers |
| R-HSA-6802957 | Oncogenic MAPK signaling |
MSigDB gene sets: 151 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_RESPONSE_TO_ANGIOTENSIN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_OXYGEN_LEVELS, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, LIAO_METASTASIS, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_HORMONE, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOMF_PEPTIDE_RECEPTOR_ACTIVITY
GO Biological Process (3): response to hypoxia (GO:0001666), regulation of blood pressure (GO:0008217), angiotensin-activated signaling pathway (GO:0038166)
GO Molecular Function (3): angiotensin type II receptor activity (GO:0004945), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (9): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell cortex (GO:0005938), cytoplasmic vesicle membrane (GO:0030659), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Oncogenic MAPK signaling | 1 |
| Disease | 1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cell periphery | 2 |
| response to stress | 1 |
| response to decreased oxygen levels | 1 |
| blood circulation | 1 |
| regulation of biological quality | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| cellular response to angiotensin | 1 |
| angiotensin receptor activity | 1 |
| protein binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
806 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AGTRAP | AGTR1 | P30556 | 974 |
| AGTRAP | AGT | P01019 | 851 |
| AGTRAP | CAMLG | P49069 | 843 |
| AGTRAP | CHRM3 | P20309 | 715 |
| AGTRAP | BDKRB1 | P46663 | 648 |
| AGTRAP | BDKRB2 | P30411 | 612 |
| AGTRAP | ARAP1 | Q96P48 | 610 |
| AGTRAP | PITPNC1 | Q9UKF7 | 602 |
| AGTRAP | BST2 | Q10589 | 584 |
| AGTRAP | CLCN6 | P51797 | 571 |
| AGTRAP | RACK1 | P25388 | 549 |
| AGTRAP | NFATC2 | Q13469 | 548 |
| AGTRAP | REN | P00797 | 478 |
| AGTRAP | ADRB2 | P07550 | 465 |
| AGTRAP | PPIB | P23284 | 452 |
IntAct
263 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AGTRAP | PITPNC1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| PITPNC1 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.760 |
| AGTRAP | PDHX | psi-mi:“MI:0915”(physical association) | 0.740 |
| SSX5 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.740 |
| AGTRAP | PTPN9 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SYT16 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.740 |
| AGTRAP | SPG21 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PDHX | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.740 |
| AGTRAP | SSX5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SPG21 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.740 |
| AGTRAP | SYT16 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PTPN9 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.740 |
| AGTRAP | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MYG1 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.670 |
| AGTRAP | HSCB | psi-mi:“MI:0915”(physical association) | 0.670 |
| AGTRAP | COQ8A | psi-mi:“MI:0915”(physical association) | 0.670 |
| ACSF2 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.670 |
| AGTRAP | MCEE | psi-mi:“MI:0915”(physical association) | 0.670 |
| ARFIP2 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (246): AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid), AGTRAP (Two-hybrid)
ESM2 similar proteins: A2VE58, A3KQ86, A6H7B0, A7E3W5, A8MWL6, B2RZ87, O43759, O43760, O43761, O54980, O55100, O55101, O76735, O95473, P07825, P08247, P0DI73, P20488, P22831, P47987, P79826, Q08AU7, Q08DL4, Q28793, Q2YDD6, Q5EBF8, Q5R703, Q5RER2, Q5XGR0, Q5XIT3, Q5YJC1, Q62277, Q62876, Q642A2, Q6RW13, Q7JYV2, Q7TQJ1, Q8BGN8, Q8R191, Q8TBG9
Diamond homologs: Q5EBF8, Q5RER2, Q642A2, Q6RW13, Q9WVK0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 30 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146535 | GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 | Pathogenic |
| 3063399 | GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 | Pathogenic |
| 443150 | GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 | Likely pathogenic |
| 814053 | GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 | Likely pathogenic |
SpliceAI
1145 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:11747541:GCATG:G | donor_gain | 1.0000 |
| 1:11748409:TTGCA:T | acceptor_loss | 1.0000 |
| 1:11748410:TGCAG:T | acceptor_loss | 1.0000 |
| 1:11748411:GCA:G | acceptor_loss | 1.0000 |
| 1:11748412:CAG:C | acceptor_loss | 1.0000 |
| 1:11748413:A:AG | acceptor_gain | 1.0000 |
| 1:11748413:A:T | acceptor_loss | 1.0000 |
| 1:11748414:G:A | acceptor_loss | 1.0000 |
| 1:11748414:G:GT | acceptor_gain | 1.0000 |
| 1:11748414:GT:G | acceptor_gain | 1.0000 |
| 1:11748414:GTT:G | acceptor_gain | 1.0000 |
| 1:11748414:GTTT:G | acceptor_gain | 1.0000 |
| 1:11748414:GTTTC:G | acceptor_gain | 1.0000 |
| 1:11748579:G:GT | donor_gain | 1.0000 |
| 1:11750060:T:G | acceptor_gain | 1.0000 |
| 1:11736197:GCC:G | donor_gain | 0.9900 |
| 1:11736274:G:GT | donor_gain | 0.9900 |
| 1:11747542:CATGG:C | donor_loss | 0.9900 |
| 1:11747545:GGTGA:G | donor_loss | 0.9900 |
| 1:11747546:G:A | donor_loss | 0.9900 |
| 1:11747547:T:A | donor_loss | 0.9900 |
| 1:11748587:GGG:G | donor_gain | 0.9900 |
| 1:11748588:GGG:G | donor_gain | 0.9900 |
| 1:11750073:CTAGG:C | acceptor_loss | 0.9900 |
| 1:11750074:TA:T | acceptor_loss | 0.9900 |
| 1:11750075:A:G | acceptor_loss | 0.9900 |
| 1:11750076:G:GA | acceptor_loss | 0.9900 |
| 1:11746123:T:A | acceptor_gain | 0.9800 |
| 1:11747546:G:GG | donor_gain | 0.9800 |
| 1:11748588:GG:G | donor_gain | 0.9800 |
AlphaMissense
1025 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:11748463:A:C | S73R | 0.990 |
| 1:11748465:C:A | S73R | 0.990 |
| 1:11748465:C:G | S73R | 0.990 |
| 1:11748529:A:C | S95R | 0.989 |
| 1:11748531:C:A | S95R | 0.989 |
| 1:11748531:C:G | S95R | 0.989 |
| 1:11747504:T:A | W43R | 0.988 |
| 1:11747504:T:C | W43R | 0.988 |
| 1:11748449:A:T | D68V | 0.988 |
| 1:11748449:A:C | D68A | 0.987 |
| 1:11745821:T:A | W16R | 0.986 |
| 1:11745821:T:C | W16R | 0.986 |
| 1:11747507:G:C | A44P | 0.986 |
| 1:11748543:G:C | K99N | 0.986 |
| 1:11748543:G:T | K99N | 0.986 |
| 1:11747498:G:C | G41R | 0.985 |
| 1:11747479:C:A | N34K | 0.983 |
| 1:11747479:C:G | N34K | 0.983 |
| 1:11747441:G:C | G22R | 0.982 |
| 1:11747493:C:A | A39D | 0.982 |
| 1:11747499:G:A | G41D | 0.981 |
| 1:11747508:C:A | A44D | 0.981 |
| 1:11748448:G:C | D68H | 0.981 |
| 1:11748424:G:C | G60R | 0.979 |
| 1:11748553:T:C | C103R | 0.976 |
| 1:11748505:T:C | F87L | 0.975 |
| 1:11748507:T:A | F87L | 0.975 |
| 1:11748507:T:G | F87L | 0.975 |
| 1:11748448:G:T | D68Y | 0.972 |
| 1:11748425:G:A | G60D | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000148201 (1:11739766 G>A), RS1000175147 (1:11745213 C>T), RS1000218063 (1:11751211 C>T), RS1000272543 (1:11737842 C>G,T), RS1000365655 (1:11749544 G>C), RS1000403382 (1:11750915 C>T), RS1000427707 (1:11744046 T>A,G), RS1000575859 (1:11739056 T>A), RS1000706557 (1:11738150 T>C,G), RS1001008593 (1:11739409 G>C), RS1001266741 (1:11739415 G>A), RS1001349203 (1:11744726 C>G,T), RS1001573008 (1:11750376 G>A,T), RS1001607951 (1:11743670 G>A), RS1001759706 (1:11749034 G>T)
Disease associations
OMIM: gene MIM:608729 | disease phenotypes: MIM:612201
GenCC curated gene-disease
Mondo (1): atrial fibrillation, familial, 6 (MONDO:0012816)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000395_2 | Systolic blood pressure | 2.000000e-13 |
| GCST010654_5 | Arterial stiffness (brachial-femoral pulse wave velocity) | 1.000000e-06 |
| GCST90002380_74 | Basophil percentage of white cells | 7.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0004517 | arterial stiffness measurement |
| EFO:0007992 | basophil percentage of leukocytes |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567400 | Atrial Fibrillation, Familial, 6 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Plant Extracts | decreases reaction, increases expression, increases reaction, decreases activity | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| MT19c compound | decreases expression | 1 |
| gnetin C | decreases activity | 1 |
| Bortezomib | decreases expression | 1 |
| Resveratrol | decreases activity | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Dust | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Flavonoids | increases expression, increases reaction, decreases reaction | 1 |
| Formaldehyde | increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation, familial, 6