MXRA5
gene geneOn this page
Also known as DKFZp564I1922
Summary
MXRA5 (matrix remodeling associated 5, HGNC:7539) is a protein-coding gene on chromosome Xp22.33, encoding Matrix-remodeling-associated protein 5 (Q9NR99). In kidney, has anti-inflammatory and anti-fibrotic properties by limiting the induction of chemokines, fibronectin and collagen expression in response to TGB1 and pro-inflammatory stimuli.
This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y.
Source: NCBI Gene 25878 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 630 total — 2 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_015419
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7539 |
| Approved symbol | MXRA5 |
| Name | matrix remodeling associated 5 |
| Location | Xp22.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp564I1922 |
| Ensembl gene | ENSG00000101825 |
| Ensembl biotype | protein_coding |
| OMIM | 300938 |
| Entrez | 25878 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000217939
RefSeq mRNA: 1 — MANE Select: NM_015419
NM_015419
CCDS: CCDS14124
Canonical transcript exons
ENST00000217939 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000664560 | 3320008 | 3324975 |
| ENSE00000664561 | 3330018 | 3330408 |
| ENSE00000664562 | 3330644 | 3330773 |
| ENSE00000870968 | 3317103 | 3318003 |
| ENSE00001487548 | 3308565 | 3311624 |
| ENSE00001487554 | 3343646 | 3343861 |
| ENSE00001487556 | 3346515 | 3346652 |
Expression profiles
Bgee: expression breadth ubiquitous, 238 present calls, max score 99.79.
FANTOM5 (CAGE): breadth broad, TPM avg 9.7523 / max 537.9861, expressed in 687 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198320 | 5.8448 | 535 |
| 198323 | 1.9988 | 489 |
| 198324 | 0.6689 | 320 |
| 198325 | 0.4605 | 272 |
| 198316 | 0.2634 | 134 |
| 198313 | 0.1195 | 53 |
| 198321 | 0.1183 | 58 |
| 198315 | 0.0874 | 40 |
| 198322 | 0.0670 | 26 |
| 198314 | 0.0582 | 20 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.79 | gold quality |
| hair follicle | UBERON:0002073 | 99.05 | gold quality |
| skin of hip | UBERON:0001554 | 98.90 | gold quality |
| urethra | UBERON:0000057 | 98.84 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.73 | gold quality |
| pylorus | UBERON:0001166 | 98.67 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.21 | gold quality |
| parietal pleura | UBERON:0002400 | 98.12 | gold quality |
| nipple | UBERON:0002030 | 97.98 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.95 | gold quality |
| penis | UBERON:0000989 | 97.94 | gold quality |
| synovial joint | UBERON:0002217 | 97.93 | gold quality |
| tibia | UBERON:0000979 | 97.79 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.76 | gold quality |
| upper leg skin | UBERON:0004262 | 97.54 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 97.44 | gold quality |
| pleura | UBERON:0000977 | 97.41 | gold quality |
| mammary duct | UBERON:0001765 | 97.14 | gold quality |
| visceral pleura | UBERON:0002401 | 97.08 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 96.92 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.89 | gold quality |
| saphenous vein | UBERON:0007318 | 96.32 | gold quality |
| vena cava | UBERON:0004087 | 96.01 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.46 | gold quality |
| upper arm skin | UBERON:0004263 | 94.88 | gold quality |
| pericardium | UBERON:0002407 | 94.73 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 94.73 | gold quality |
| trachea | UBERON:0003126 | 94.39 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.20 | gold quality |
| renal medulla | UBERON:0000362 | 94.20 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 34.58 |
| E-HCAD-10 | yes | 29.88 |
| E-MTAB-5061 | yes | 18.28 |
| E-ANND-3 | yes | 6.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
98 targeting MXRA5, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
Literature-anchored findings (GeneRIF, showing 9)
- screened one most frequently mutated novel gene, matrix-remodeling associated 5 (MXRA5), in an additional larger Chinese sample set of 52 patients with NSCLC and confirmed its high somatic mutation frequency (PMID:22696596)
- These results indicated the potential value of MXRA5 as a novel therapeutic target for the treatment of non-small cell lung cancer. (PMID:26406953)
- In clear cell renal cancer, von Hippel-Lindau (VHL) regulated MXRA5 expression. (PMID:27599751)
- MXRA5 is downregulated in preeclamptic cytotrophoblasts and can regulate trophoblast cell invasion via the MAPK pathway. (PMID:28919298)
- Identification and functional activity of matrix-remodeling associated 5 (MXRA5) in benign hyperplastic prostate. (PMID:32392178)
- MXRA5 Is a Novel Immune-Related Biomarker That Predicts Poor Prognosis in Glioma. (PMID:34211612)
- Public RNA-seq data-based identification and functional analyses reveal that MXRA5 retains proliferative and migratory abilities of dental pulp stem cells. (PMID:37730838)
- Identification of HTRA1, DPT and MXRA5 as potential biomarkers associated with osteoarthritis progression and immune infiltration. (PMID:39148085)
- HIF-1alpha Activates Hypoxia-Induced MXRA5 Expression in the Progression of Ovarian Cancer. (PMID:39462449)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-159i8.4 | ENSDARG00000076332 |
Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)
Protein
Protein identifiers
Matrix-remodeling-associated protein 5 — Q9NR99 (reviewed: Q9NR99)
Alternative names: Adhesion protein with leucine-rich repeats and immunoglobulin domains related to perlecan
All UniProt accessions (1): Q9NR99
UniProt curated annotations — full annotation on UniProt →
Function. In kidney, has anti-inflammatory and anti-fibrotic properties by limiting the induction of chemokines, fibronectin and collagen expression in response to TGB1 and pro-inflammatory stimuli.
Subcellular location. Secreted.
Tissue specificity. Detected in placenta (at protein level). Detected in cerebrospinal fluid and fibroblasts (at protein level). Highly expressed in kidney, also detected on liver and spleen. Expressed by proximal tubular cells of the kidney (at protein level). Expression highly increases during chronic kidney disease and autosomal dominant polycystic kidney disease, where is detected in cysts.
Disease relevance. Lung cancer (LNCR) [MIM:211980] A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Induction. Expression is induced by TGFB1, in kidney tubular cells. This induction is inhibited by the vitamin D receptor activator paricalcitol (at protein level).
RefSeq proteins (1): NP_056234* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000372 | LRRNT | Domain |
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050467 | LRFN | Family |
Pfam: PF07679, PF13855, PF13927
UniProt features (89 total): sequence variant 22, domain 14, disulfide bond 12, region of interest 10, glycosylation site 9, compositionally biased region 8, repeat 7, sequence conflict 5, signal peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q9NR99 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (12): 501–555, 599–651, 1875–1928, 1972–2025, 2069–2122, 2168–2221, 2265–2324, 2368–2418, 2466–2518, 2564–2616, 2659–2711, 2755–2810
Glycosylation sites (9): 287, 321, 633, 702, 1403, 1735, 2007, 2056, 2693
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 113 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, PEREZ_TP63_TARGETS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, CHANDRAN_METASTASIS_DN, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, LU_TUMOR_VASCULATURE_UP, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_LOBULAR_NORMAL_DN, BROWNE_HCMV_INFECTION_24HR_DN, GOBP_RESPONSE_TO_GROWTH_FACTOR, PEREZ_TP53_AND_TP63_TARGETS
GO Biological Process (1): response to transforming growth factor beta (GO:0071559)
GO Molecular Function (2): extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)
GO Cellular Component (3): extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to growth factor | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| binding | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1246 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MXRA5 | TBX2 | Q13207 | 557 |
| MXRA5 | ARSF | P54793 | 500 |
| MXRA5 | ITGBL1 | O95965 | 459 |
| MXRA5 | ANGPT2 | O15123 | 447 |
| MXRA5 | GYG2 | O15488 | 426 |
| MXRA5 | ARSD | P51689 | 410 |
| MXRA5 | JAG1 | P78504 | 407 |
| MXRA5 | PRKX | P51817 | 400 |
| MXRA5 | FNDC1 | Q4ZHG4 | 393 |
| MXRA5 | PUDP | Q08623 | 386 |
| MXRA5 | PNPLA4 | P41247 | 382 |
| MXRA5 | ARSL | P51690 | 382 |
| MXRA5 | COL15A1 | P39059 | 378 |
| MXRA5 | OLFML2B | Q68BL8 | 375 |
| MXRA5 | COL5A2 | P05997 | 371 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MXRA5 | HMGN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | PLEC | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | CALR | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | SDHA | psi-mi:“MI:0915”(physical association) | 0.400 |
| MFAP3L | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MPIG6B | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ILDR1 | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAG | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PILRA | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | PILRB | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | AGER | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | SIGLEC7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | SIGLEC8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MXRA5 | SIGLEC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD200 | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCN2B | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AXL | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIF1B | MXRA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): MXRA5 (Affinity Capture-MS), MXRA5 (Affinity Capture-MS), MXRA5 (Affinity Capture-RNA), MXRA5 (Proximity Label-MS), MXRA5 (Proximity Label-MS), MXRA5 (Proximity Label-MS), MXRA5 (Proximity Label-MS), MXRA5 (Affinity Capture-MS), MXRA5 (Proximity Label-MS)
ESM2 similar proteins: A0A2R8Y4Y8, A0A2R8YFL7, A0A2R8YFM6, A0A8J1K1A4, A5D791, E7FKV8, O77726, O88393, P20239, P20783, P26342, P35054, P40200, P47984, Q03167, Q05996, Q08DT3, Q17R60, Q2Q0J1, Q3MHP9, Q3U0X8, Q3V1M1, Q4FZG8, Q4V7E2, Q5BK49, Q5SY80, Q5XI99, Q6DFV8, Q6WRH9, Q6WRI0, Q6X784, Q7TST5, Q80VH0, Q86WS3, Q8JIR8, Q8R1W8, Q925U0, Q95KG7, Q9D9J7, Q9ET62
Diamond homologs: A0N0X6, A2AJ76, A2CG49, A4IGL7, A4IIW9, B3NS99, B4GBH0, B4HNW4, B4KPU0, B4MR28, B4P5Q9, B4QC63, G5EBF1, O75325, O95428, P0C6S8, P11627, P12960, P22063, P28685, P32004, P97924, Q02246, Q07409, Q09024, Q12860, Q290N5, Q32Q07, Q3UQ28, Q3URE9, Q3V1M1, Q5R482, Q61330, Q61809, Q62682, Q62845, Q63198, Q66HV9, Q69Z26, Q6AWJ9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 18 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 6 | 37.4× | 5e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
630 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 354 |
| Likely benign | 34 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2499158 | GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1 | Pathogenic |
| 564691 | GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1 | Pathogenic |
| 979822 | GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333434)x1 | Likely pathogenic |
SpliceAI
714 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:3311625:C:CC | acceptor_gain | 1.0000 |
| X:3317097:GCCTA:G | donor_loss | 1.0000 |
| X:3317098:CCTA:C | donor_loss | 1.0000 |
| X:3317099:CTA:C | donor_loss | 1.0000 |
| X:3317100:TACC:T | donor_loss | 1.0000 |
| X:3317101:A:AT | donor_loss | 1.0000 |
| X:3317102:CCT:C | donor_loss | 1.0000 |
| X:3318001:CTC:C | acceptor_gain | 1.0000 |
| X:3330409:CTGC:C | acceptor_loss | 1.0000 |
| X:3343661:T:A | donor_gain | 1.0000 |
| X:3311620:CAAAA:C | acceptor_gain | 0.9900 |
| X:3311621:AAAA:A | acceptor_gain | 0.9900 |
| X:3311622:AAA:A | acceptor_gain | 0.9900 |
| X:3311623:AA:A | acceptor_gain | 0.9900 |
| X:3311624:AC:A | acceptor_loss | 0.9900 |
| X:3311624:ACTAC:A | acceptor_gain | 0.9900 |
| X:3311626:T:A | acceptor_gain | 0.9900 |
| X:3311626:T:C | acceptor_loss | 0.9900 |
| X:3318002:TC:T | acceptor_gain | 0.9900 |
| X:3318002:TCC:T | acceptor_loss | 0.9900 |
| X:3318003:CC:C | acceptor_gain | 0.9900 |
| X:3318004:C:CC | acceptor_gain | 0.9900 |
| X:3318004:CTGG:C | acceptor_loss | 0.9900 |
| X:3330251:T:TA | donor_gain | 0.9900 |
| X:3330407:AC:A | acceptor_gain | 0.9900 |
| X:3330408:CC:C | acceptor_gain | 0.9900 |
| X:3330409:C:CC | acceptor_gain | 0.9900 |
| X:3330419:A:T | acceptor_gain | 0.9900 |
| X:3330638:GTTTA:G | donor_loss | 0.9900 |
| X:3330639:TTTA:T | donor_loss | 0.9900 |
AlphaMissense
18518 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:3323336:C:A | W783C | 1.000 |
| X:3323336:C:G | W783C | 1.000 |
| X:3309904:A:G | W2767R | 0.999 |
| X:3309904:A:T | W2767R | 0.999 |
| X:3310363:A:C | Y2614D | 0.999 |
| X:3310477:A:G | W2576R | 0.999 |
| X:3310477:A:T | W2576R | 0.999 |
| X:3311065:A:G | W2380R | 0.999 |
| X:3311065:A:T | W2380R | 0.999 |
| X:3311374:A:G | W2277R | 0.999 |
| X:3311374:A:T | W2277R | 0.999 |
| X:3317143:A:G | W2180R | 0.999 |
| X:3317143:A:T | W2180R | 0.999 |
| X:3317438:C:A | W2081C | 0.999 |
| X:3317438:C:G | W2081C | 0.999 |
| X:3317440:A:G | W2081R | 0.999 |
| X:3317440:A:T | W2081R | 0.999 |
| X:3317608:A:G | C2025R | 0.999 |
| X:3317731:A:G | W1984R | 0.999 |
| X:3317731:A:T | W1984R | 0.999 |
| X:3320026:A:G | W1887R | 0.999 |
| X:3320026:A:T | W1887R | 0.999 |
| X:3323338:A:G | W783R | 0.999 |
| X:3323338:A:T | W783R | 0.999 |
| X:3324551:C:A | W378C | 0.999 |
| X:3324551:C:G | W378C | 0.999 |
| X:3324553:A:G | W378R | 0.999 |
| X:3324553:A:T | W378R | 0.999 |
| X:3330767:A:C | N65K | 0.999 |
| X:3330767:A:T | N65K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000218906 (X:3344713 G>A), RS1000230950 (X:3313805 G>A), RS1000283254 (X:3314332 C>G,T), RS1000419890 (X:3326487 G>A,C), RS1000601177 (X:3336706 C>G), RS1000875308 (X:3326924 C>A,T), RS1000948023 (X:3346921 C>G), RS1001642747 (X:3328165 G>A,C,T), RS1002047621 (X:3347473 G>C), RS1002197881 (X:3314955 T>C), RS1002272772 (X:3337455 G>T), RS1002808962 (X:3318706 T>C), RS1002876728 (X:3329698 A>G), RS1002879541 (X:3339552 C>G), RS1002938906 (X:3329924 GAAT>G)
Disease associations
OMIM: gene MIM:300938 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): nephrotic syndrome (MONDO:0005377), prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001613_13 | Antineutrophil cytoplasmic antibody-associated vasculitis | 1.000000e-06 |
| GCST008162_27 | Hip circumference | 4.000000e-06 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009404 | Nephrotic Syndrome | C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, affects cotreatment, increases expression | 5 |
| bisphenol A | affects expression, affects cotreatment, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases mutagenesis | 2 |
| Doxorubicin | decreases expression, increases expression | 2 |
| Ethinyl Estradiol | affects expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Progesterone | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| 3,4-dichloroaniline | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| chloroquine diphosphate | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| gallium arsenide | decreases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Troglitazone | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00308321 | PHASE4 | UNKNOWN | Long Term Tapering or Standard Steroids for Nephrotic Syndrome |
| NCT01021540 | PHASE4 | COMPLETED | Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes |
| NCT01028287 | PHASE4 | COMPLETED | Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN) |
| NCT01162005 | PHASE4 | COMPLETED | Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children |
| NCT01895894 | PHASE4 | COMPLETED | Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome |
| NCT02238418 | PHASE4 | COMPLETED | Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. |
| NCT02382575 | PHASE4 | UNKNOWN | Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome |
| NCT02427880 | PHASE4 | COMPLETED | Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema |
| NCT03210688 | PHASE4 | COMPLETED | Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy |
| NCT03347357 | PHASE4 | COMPLETED | Pharmacokinetics of Tacrolimus in Children |
| NCT05696977 | PHASE4 | UNKNOWN | Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients |
| NCT05966818 | PHASE4 | UNKNOWN | Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome. |
| NCT06026787 | PHASE4 | COMPLETED | Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anti-neutrophil antibody associated vasculitis, nephrotic syndrome