MXRA8
gene geneOn this page
Also known as DKFZp586E2023
Summary
MXRA8 (matrix remodeling associated 8, HGNC:7542) is a protein-coding gene on chromosome 1p36.33, encoding Matrix remodeling-associated protein 8 (Q9BRK3). Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3.
Predicted to be involved in establishment of glial blood-brain barrier. Located in extracellular exosome.
Source: NCBI Gene 54587 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 106 total — 1 likely-pathogenic
- MANE Select transcript:
NM_032348
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7542 |
| Approved symbol | MXRA8 |
| Name | matrix remodeling associated 8 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp586E2023 |
| Ensembl gene | ENSG00000162576 |
| Ensembl biotype | protein_coding |
| OMIM | 617293 |
| Entrez | 54587 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 6 retained_intron
ENST00000309212, ENST00000342753, ENST00000445648, ENST00000460473, ENST00000464351, ENST00000473097, ENST00000474033, ENST00000476718, ENST00000477278, ENST00000478517, ENST00000897927, ENST00000953649, ENST00000953650, ENST00000953651
RefSeq mRNA: 5 — MANE Select: NM_032348
NM_001282582, NM_001282583, NM_001282584, NM_001282585, NM_032348
CCDS: CCDS24, CCDS59950, CCDS59951, CCDS59952
Canonical transcript exons
ENST00000309212 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001066499 | 1354354 | 1354509 |
| ENSE00001130277 | 1355244 | 1355345 |
| ENSE00001208985 | 1355450 | 1355752 |
| ENSE00001224365 | 1354682 | 1355152 |
| ENSE00001224378 | 1356681 | 1356704 |
| ENSE00001829673 | 1358456 | 1358555 |
| ENSE00001829761 | 1352691 | 1353629 |
| ENSE00003469474 | 1354193 | 1354232 |
| ENSE00003558812 | 1354030 | 1354106 |
| ENSE00003672275 | 1353848 | 1353928 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.9366 / max 856.3660, expressed in 1167 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9770 | 49.2188 | 1134 |
| 9766 | 0.5725 | 352 |
| 9767 | 0.3829 | 201 |
| 9763 | 0.3521 | 149 |
| 9765 | 0.3071 | 172 |
| 9762 | 0.3012 | 163 |
| 9768 | 0.2505 | 122 |
| 9764 | 0.2474 | 127 |
| 9769 | 0.2102 | 113 |
| 9771 | 0.0939 | 36 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 99.32 | gold quality |
| tibial nerve | UBERON:0001323 | 99.19 | gold quality |
| decidua | UBERON:0002450 | 99.08 | gold quality |
| endocervix | UBERON:0000458 | 98.93 | gold quality |
| body of uterus | UBERON:0009853 | 98.91 | gold quality |
| right coronary artery | UBERON:0001625 | 98.87 | gold quality |
| right ovary | UBERON:0002118 | 98.80 | gold quality |
| gall bladder | UBERON:0002110 | 98.79 | gold quality |
| ascending aorta | UBERON:0001496 | 98.68 | gold quality |
| left ovary | UBERON:0002119 | 98.68 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.67 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.59 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.55 | gold quality |
| left coronary artery | UBERON:0001626 | 98.26 | gold quality |
| left uterine tube | UBERON:0001303 | 98.22 | gold quality |
| coronary artery | UBERON:0001621 | 98.14 | gold quality |
| aorta | UBERON:0000947 | 98.12 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.12 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.12 | gold quality |
| ectocervix | UBERON:0012249 | 98.07 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.91 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.82 | gold quality |
| apex of heart | UBERON:0002098 | 97.77 | gold quality |
| popliteal artery | UBERON:0002250 | 97.77 | gold quality |
| tibial artery | UBERON:0007610 | 97.77 | gold quality |
| omental fat pad | UBERON:0010414 | 97.41 | gold quality |
| peritoneum | UBERON:0002358 | 97.35 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.20 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.06 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.97 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 16.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-114530 | yes | 2219.60 |
| E-GEOD-124472 | yes | 1263.42 |
| E-MTAB-6701 | yes | 559.07 |
| E-ANND-5 | yes | 490.70 |
| E-GEOD-135922 | yes | 337.76 |
| E-MTAB-6678 | yes | 266.08 |
| E-MTAB-10287 | yes | 119.80 |
| E-HCAD-1 | yes | 82.75 |
| E-MTAB-8410 | yes | 52.88 |
| E-GEOD-134144 | yes | 37.20 |
| E-ANND-3 | yes | 32.03 |
| E-HCAD-13 | yes | 27.03 |
| E-HCAD-10 | yes | 22.44 |
| E-CURD-112 | yes | 17.67 |
| E-GEOD-81547 | yes | 7.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting MXRA8, 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-6810-5P | 98.29 | 66.21 | 975 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-1972 | 97.67 | 67.38 | 1172 |
| HSA-MIR-6862-5P | 97.48 | 64.84 | 713 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-148B-5P | 97.29 | 66.30 | 992 |
| HSA-MIR-6874-3P | 97.29 | 66.34 | 975 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
| HSA-MIR-4652-5P | 96.46 | 64.22 | 553 |
| HSA-MIR-6782-5P | 96.45 | 64.42 | 612 |
| HSA-MIR-152-5P | 96.42 | 66.59 | 960 |
| HSA-MIR-6747-5P | 96.17 | 64.99 | 743 |
| HSA-MIR-365A-5P | 94.91 | 63.72 | 471 |
| HSA-MIR-365B-5P | 94.91 | 63.79 | 470 |
Literature-anchored findings (GeneRIF, showing 8)
- new member of the transmembrane-type immunoglobulin superfamily and designated limitrin, localizing selectively to glia limitans in mouse brain (PMID:14603461)
- MXRA8 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. (PMID:21555518)
- exogenous expression of DICAM in human umbilical vein endothelial cells suppressed angiogenesis in vitro Matrigel and in vivo plug assays, and conversely, DICAM knockdown enhanced angiogenesis (PMID:23386276)
- studies provide insight into how Mxra8 binds CHIKV and creates a path for developing alphavirus entry inhibitors. (PMID:31080061)
- the stalk region of MXRA8 is critical for CHIKV virus entry. (PMID:31080063)
- Elevated Expression of miR-200c/141 in MDA-MB-231 Cells Suppresses MXRA8 Levels and Impairs Breast Cancer Growth and Metastasis In Vivo. (PMID:35456497)
- Loss of MXRA8 Delays Mammary Tumor Development and Impairs Metastasis. (PMID:37762032)
- Single-cell RNA combined with bulk RNA analysis to explore oxidative stress and energy metabolism factors and found a new prostate cancer oncogene MXRA8. (PMID:38441550)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mxra8b | ENSDARG00000062129 |
| danio_rerio | mxra8a | ENSDARG00000062222 |
| mus_musculus | Mxra8 | ENSMUSG00000029070 |
| rattus_norvegicus | Mxra8 | ENSRNOG00000019244 |
Paralogs (14): VSIG2 (ENSG00000019102), VSIG1 (ENSG00000101842), VSIR (ENSG00000107738), GPA33 (ENSG00000143167), IGSF11 (ENSG00000144847), ESAM (ENSG00000149564), CXADR (ENSG00000154639), JAM2 (ENSG00000154721), F11R (ENSG00000158769), JAM3 (ENSG00000166086), CLMP (ENSG00000166250), MUC15 (ENSG00000169550), VSTM2B (ENSG00000187135), VSIG8 (ENSG00000243284)
Protein
Protein identifiers
Matrix remodeling-associated protein 8 — Q9BRK3 (reviewed: Q9BRK3)
Alternative names: Limitrin
All UniProt accessions (1): Q9BRK3
UniProt curated annotations — full annotation on UniProt →
Function. Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3. Mediates heterophilic cell-cell interactions in vitro. Inhibits osteoclastogenesis downstream of TNFSF11/RANKL and CSF1, where it may function by attenuating signaling via integrin ITGB3 and MAP kinase p38. Plays a role in cartilage formation where it promotes proliferation and maturation of growth plate chondrocytes. Stimulates formation of primary cilia in chondrocytes. Enhances expression of genes involved in the hedgehog signaling pathway in chondrocytes, including the hedgehog signaling molecule IHH; may also promote signaling via the PTHLH/PTHrP pathway. Plays a role in angiogenesis where it suppresses migration of endothelial cells and also promotes their apoptosis. Inhibits VEGF-induced activation of AKT and p38 MAP kinase in endothelial cells. Also inhibits VTN (vitronectin)-mediated integrin ITGAV:ITGB3 signaling and activation of PTK2/FAK. May play a role in the maturation and maintenance of the blood-brain barrier. (Microbial infection) Contributes to arthritogenic alphavirus pathogenesis and acts as a receptor for these viruses.
Subunit / interactions. Homodimer in cis. Does not appear to form trans-homodimers. Interacts with ITGB3; the interaction inhibits ITGAV:ITGB3 heterodimer formation. (Microbial infection) Interacts with chikungunya virus spike glycoproteins E2 and E1. The interaction involves 2 adjacent E2-E1 heterodimers.
Subcellular location. Cell membrane. Cell junction. Tight junction. Cytoplasm. Cell projection. Cilium membrane. Nucleus.
Tissue specificity. Detected in endothelial cells in mammary tissue, in both large vessels (left internal mammary artery) and small capillaries (vasa vasorum of the adventitia).
Domain organisation. The RGD motif is involved in integrin ITGAV:ITGB3 binding.
Induction. Up-regulated in vein endothelial cells (HUVECs) in response to VEGF signaling.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRK3-1 | 1 | yes |
| Q9BRK3-2 | 2 | |
| Q9BRK3-3 | 3 | |
| Q9BRK3-4 | 4 |
RefSeq proteins (5): NP_001269511, NP_001269512, NP_001269513, NP_001269514, NP_115724* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR042472 | MXRA8 | Family |
Pfam: PF07686
UniProt features (50 total): strand 18, turn 7, splice variant 4, helix 4, glycosylation site 2, disulfide bond 2, topological domain 2, domain 2, signal peptide 1, chain 1, modified residue 1, sequence variant 1, sequence conflict 1, transmembrane region 1, region of interest 1, short sequence motif 1, site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6JO8 | X-RAY DIFFRACTION | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRK3-F1 | 76.46 | 0.48 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 325–326 (cleavage)
Post-translational modifications (1): 228
Disulfide bonds (2): 54–137, 186–272
Glycosylation sites (2): 119, 306
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 148 (showing top):
BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, MODULE_255, GOBP_GLIAL_CELL_DEVELOPMENT, MODULE_317, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, FOXO1_01, LIEN_BREAST_CARCINOMA_METAPLASTIC, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, HFH8_01, TGACATY_UNKNOWN, ATF3_Q6, HFH1_01
GO Biological Process (3): cell adhesion (GO:0007155), cell differentiation (GO:0030154), establishment of glial blood-brain barrier (GO:0060857)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (11): nucleus (GO:0005634), endoplasmic reticulum lumen (GO:0005788), bicellular tight junction (GO:0005923), cell surface (GO:0009986), ciliary membrane (GO:0060170), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 2 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cellular process | 1 |
| cellular developmental process | 1 |
| glial cell development | 1 |
| establishment of blood-brain barrier | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| cilium | 1 |
| cell projection membrane | 1 |
| bounding membrane of organelle | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1016 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MXRA8 | BACE1 | P56817 | 583 |
| MXRA8 | RHO | P08100 | 578 |
| MXRA8 | JAG2 | Q9Y219 | 568 |
| MXRA8 | ADRB2 | P07550 | 566 |
| MXRA8 | NAPSA | O96009 | 541 |
| MXRA8 | MXRA7 | P84157 | 537 |
| MXRA8 | ARG2 | P78540 | 535 |
| MXRA8 | FAM20A | Q96MK3 | 525 |
| MXRA8 | VIP | P01282 | 505 |
| MXRA8 | LDLRAD3 | Q86YD5 | 495 |
| MXRA8 | AASDHPPT | Q9NRN7 | 484 |
| MXRA8 | TPM3 | P06753 | 476 |
| MXRA8 | PHB1 | P35232 | 465 |
| MXRA8 | PRSS23 | O95084 | 452 |
| MXRA8 | ADRA2A | P08913 | 451 |
IntAct
50 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL13RA2 | CHEK1 | psi-mi:“MI:0914”(association) | 0.640 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| CABP2 | MXRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX2 | MXRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GMEB2 | MXRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MXRA8 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MXRA8 | CABP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MXRA8 | ANKRD11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTC19 | MXRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NTAQ1 | MXRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCT8L2 | ACSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC4A | SEMA7A | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | STK25 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC7A1 | STXBP3 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CELA3A | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| CLGN | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CUEDC1 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| GDPD5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): MXRA8 (Affinity Capture-MS), MXRA8 (Proximity Label-MS), MXRA8 (Two-hybrid), MXRA8 (Two-hybrid), MXRA8 (Two-hybrid), MXRA8 (Two-hybrid), ANKRD11 (Two-hybrid), CABP2 (Two-hybrid), MXRA8 (Affinity Capture-RNA), MXRA8 (Affinity Capture-MS), MXRA8 (Affinity Capture-MS), MXRA8 (Negative Genetic), MXRA8 (Affinity Capture-MS), MXRA8 (Proximity Label-MS), MXRA8 (Proximity Label-MS)
ESM2 similar proteins: A0A140LHF2, A0JPB1, A2AJ76, A7LCJ3, A8E0Y8, E7FF10, O00241, O60500, P01874, P03988, P04221, P0DOX2, P0DOX3, P0DOX4, P0DOX6, P0DP72, P32507, P35590, P43121, P50895, Q06805, Q06806, Q148M6, Q15109, Q5TFQ8, Q5U5A3, Q5XI43, Q62230, Q62786, Q8HW98, Q8NDA2, Q8R2Y2, Q92154, Q923P0, Q93033, Q95KI3, Q96MS0, Q9BRK3, Q9BZZ2, Q9DBV4
Diamond homologs: Q148M6, Q5XI43, Q7T0R0, Q90WI4, Q9BRK3, Q9DBV4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 78 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 402162 | NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn) | Likely pathogenic |
SpliceAI
1037 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1353924:GTAAT:G | acceptor_gain | 1.0000 |
| 1:1353925:TAAT:T | acceptor_gain | 1.0000 |
| 1:1353925:TAATC:T | acceptor_loss | 1.0000 |
| 1:1353926:AAT:A | acceptor_gain | 1.0000 |
| 1:1353927:AT:A | acceptor_gain | 1.0000 |
| 1:1353928:TCTGT:T | acceptor_loss | 1.0000 |
| 1:1353929:C:CC | acceptor_gain | 1.0000 |
| 1:1353930:T:C | acceptor_loss | 1.0000 |
| 1:1354025:CTCAC:C | donor_loss | 1.0000 |
| 1:1354026:TCA:T | donor_loss | 1.0000 |
| 1:1354028:ACCTA:A | donor_loss | 1.0000 |
| 1:1354029:CCTAG:C | donor_gain | 1.0000 |
| 1:1354033:G:C | donor_gain | 1.0000 |
| 1:1354046:ACT:A | donor_gain | 1.0000 |
| 1:1354047:CTC:C | donor_gain | 1.0000 |
| 1:1354351:CA:C | donor_loss | 1.0000 |
| 1:1354352:ACC:A | donor_loss | 1.0000 |
| 1:1354353:C:CA | donor_loss | 1.0000 |
| 1:1354506:GGGTC:G | acceptor_loss | 1.0000 |
| 1:1354507:GGTC:G | acceptor_loss | 1.0000 |
| 1:1354509:TCT:T | acceptor_loss | 1.0000 |
| 1:1354510:C:CA | acceptor_loss | 1.0000 |
| 1:1354510:C:CC | acceptor_gain | 1.0000 |
| 1:1354511:T:A | acceptor_loss | 1.0000 |
| 1:1355343:CCG:C | acceptor_gain | 1.0000 |
| 1:1355344:CGC:C | acceptor_gain | 1.0000 |
| 1:1355346:C:CC | acceptor_gain | 1.0000 |
| 1:1355355:C:T | acceptor_gain | 1.0000 |
| 1:1358454:A:AC | donor_gain | 1.0000 |
| 1:1358455:C:CC | donor_gain | 1.0000 |
AlphaMissense
2824 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1355010:C:A | W207C | 1.000 |
| 1:1355010:C:G | W207C | 1.000 |
| 1:1355012:A:G | W207R | 1.000 |
| 1:1355012:A:T | W207R | 1.000 |
| 1:1355052:C:A | W193C | 1.000 |
| 1:1355052:C:G | W193C | 1.000 |
| 1:1354795:C:T | C279Y | 0.999 |
| 1:1354810:A:G | L274P | 0.999 |
| 1:1354815:G:C | C272W | 0.999 |
| 1:1354816:C:G | C272S | 0.999 |
| 1:1354816:C:T | C272Y | 0.999 |
| 1:1354817:A:G | C272R | 0.999 |
| 1:1354817:A:T | C272S | 0.999 |
| 1:1354820:A:G | S271P | 0.999 |
| 1:1354823:A:C | Y270D | 0.999 |
| 1:1354882:A:C | F250C | 0.999 |
| 1:1355011:C:G | W207S | 0.999 |
| 1:1355290:G:C | C144W | 0.999 |
| 1:1355291:C:A | C144F | 0.999 |
| 1:1355291:C:G | C144S | 0.999 |
| 1:1355291:C:T | C144Y | 0.999 |
| 1:1355292:A:T | C144S | 0.999 |
| 1:1355311:G:C | C137W | 0.999 |
| 1:1355312:C:G | C137S | 0.999 |
| 1:1355312:C:T | C137Y | 0.999 |
| 1:1355313:A:T | C137S | 0.999 |
| 1:1355319:A:C | Y135D | 0.999 |
| 1:1355482:A:C | F115C | 0.999 |
| 1:1355601:C:A | W75C | 0.999 |
| 1:1355601:C:G | W75C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000015240 (1:1362918 C>T), RS1000102657 (1:1364390 C>T), RS1000610776 (1:1358208 C>T), RS1000784544 (1:1360285 GGGGGCAGCTGACCCCCAT>G), RS1000806936 (1:1364428 G>A), RS1000911771 (1:1354666 G>A,C,T), RS1001047036 (1:1354970 G>A,T), RS1001390176 (1:1354017 A>C), RS1001649313 (1:1362079 C>A), RS1001678785 (1:1361875 A>G), RS1001986381 (1:1361176 A>T), RS1002098834 (1:1357607 G>A), RS1002101488 (1:1352269 A>G), RS1002357556 (1:1361333 G>C), RS1002626981 (1:1355587 G>A,C)
Disease associations
OMIM: gene MIM:617293 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_103 | Inflammatory bowel disease | 2.000000e-07 |
| GCST004133_40 | Ulcerative colitis | 3.000000e-06 |
| GCST005580_249 | Intraocular pressure | 1.000000e-10 |
| GCST005580_72 | Intraocular pressure | 1.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression, increases methylation | 5 |
| Tetrachlorodibenzodioxin | affects expression, increases expression | 3 |
| Benzo(a)pyrene | decreases methylation, increases expression, affects methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.