DMXL1
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Summary
DMXL1 (Dmx like 1, HGNC:2937) is a protein-coding gene on chromosome 5q23.1, encoding DmX-like protein 1 (Q9Y485).
The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 1657 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 590 total
- MANE Select transcript:
NM_001290321
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2937 |
| Approved symbol | DMXL1 |
| Name | Dmx like 1 |
| Location | 5q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000172869 |
| Ensembl biotype | protein_coding |
| OMIM | 605671 |
| Entrez | 1657 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding_CDS_not_defined, 4 protein_coding, 3 retained_intron
ENST00000311085, ENST00000502516, ENST00000503802, ENST00000504031, ENST00000504497, ENST00000505312, ENST00000507552, ENST00000509902, ENST00000510924, ENST00000511622, ENST00000512281, ENST00000514151, ENST00000514595, ENST00000515335, ENST00000539542, ENST00000939842
RefSeq mRNA: 8 — MANE Select: NM_001290321
NM_001290321, NM_001349239, NM_001349240, NM_001387933, NM_001387934, NM_001387937, NM_001387938, NM_005509
CCDS: CCDS4125, CCDS75289
Canonical transcript exons
ENST00000539542 — 44 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001083130 | 119197755 | 119197956 |
| ENSE00001202207 | 119133494 | 119134178 |
| ENSE00001202211 | 119133132 | 119133385 |
| ENSE00001272322 | 119196371 | 119196456 |
| ENSE00001272476 | 119129211 | 119129423 |
| ENSE00001272492 | 119118815 | 119119004 |
| ENSE00001272517 | 119105180 | 119105258 |
| ENSE00001272572 | 119246995 | 119249127 |
| ENSE00001367752 | 119147249 | 119147470 |
| ENSE00001368091 | 119134268 | 119134389 |
| ENSE00001377433 | 119148739 | 119150421 |
| ENSE00001400702 | 119167603 | 119167864 |
| ENSE00001404246 | 119166616 | 119166781 |
| ENSE00001404744 | 119193828 | 119193970 |
| ENSE00001409422 | 119189708 | 119189886 |
| ENSE00001412462 | 119177996 | 119178244 |
| ENSE00001417452 | 119177357 | 119177484 |
| ENSE00001417604 | 119165183 | 119165280 |
| ENSE00001423096 | 119164507 | 119164676 |
| ENSE00001425422 | 119175261 | 119175337 |
| ENSE00001426459 | 119151929 | 119152036 |
| ENSE00001429600 | 119171778 | 119171969 |
| ENSE00001434520 | 119170190 | 119171280 |
| ENSE00002224323 | 119206834 | 119206896 |
| ENSE00002279392 | 119071087 | 119071656 |
| ENSE00003489787 | 119101935 | 119102006 |
| ENSE00003489981 | 119240419 | 119240471 |
| ENSE00003493530 | 119220940 | 119221081 |
| ENSE00003495869 | 119238989 | 119239080 |
| ENSE00003506049 | 119220472 | 119220593 |
| ENSE00003509345 | 119224709 | 119224769 |
| ENSE00003511570 | 119146837 | 119146956 |
| ENSE00003572488 | 119097979 | 119098104 |
| ENSE00003573913 | 119244359 | 119244576 |
| ENSE00003602143 | 119114475 | 119114541 |
| ENSE00003608671 | 119143841 | 119143930 |
| ENSE00003616513 | 119144536 | 119144638 |
| ENSE00003619105 | 119120971 | 119121139 |
| ENSE00003641587 | 119116158 | 119116336 |
| ENSE00003642078 | 119203319 | 119203436 |
| ENSE00003648795 | 119233340 | 119233467 |
| ENSE00003662943 | 119237322 | 119237414 |
| ENSE00003684570 | 119216901 | 119216987 |
| ENSE00003687950 | 119110151 | 119110283 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9455 / max 685.2201, expressed in 1814 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58107 | 9.5846 | 1708 |
| 58108 | 9.2302 | 1735 |
| 58106 | 3.3798 | 1348 |
| 58105 | 0.7509 | 467 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| choroid plexus epithelium | UBERON:0003911 | 96.92 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.85 | gold quality |
| retina | UBERON:0000966 | 96.83 | gold quality |
| endothelial cell | CL:0000115 | 96.18 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.88 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.67 | gold quality |
| nephron tubule | UBERON:0001231 | 94.61 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.38 | gold quality |
| secondary oocyte | CL:0000655 | 94.27 | gold quality |
| corpus callosum | UBERON:0002336 | 94.23 | gold quality |
| oocyte | CL:0000023 | 93.91 | gold quality |
| parietal pleura | UBERON:0002400 | 93.55 | gold quality |
| visceral pleura | UBERON:0002401 | 93.37 | gold quality |
| sural nerve | UBERON:0015488 | 92.95 | gold quality |
| blood vessel layer | UBERON:0004797 | 92.92 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.87 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.85 | gold quality |
| pleura | UBERON:0000977 | 92.83 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.74 | gold quality |
| tibia | UBERON:0000979 | 92.63 | gold quality |
| oral cavity | UBERON:0000167 | 92.26 | gold quality |
| tonsil | UBERON:0002372 | 92.15 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.14 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.13 | gold quality |
| pons | UBERON:0000988 | 92.05 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.98 | gold quality |
| skin of hip | UBERON:0001554 | 91.92 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 91.77 | gold quality |
| upper leg skin | UBERON:0004262 | 91.67 | gold quality |
| inferior olivary complex | UBERON:0002127 | 91.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
163 targeting DMXL1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000098599 | ||
| mus_musculus | Dmxl1 | ENSMUSG00000037416 |
| rattus_norvegicus | Dmxl1 | ENSRNOG00000024671 |
| drosophila_melanogaster | Rbcn-3A | FBGN0023458 |
| caenorhabditis_elegans | WBGENE00004313 |
Paralogs (1): DMXL2 (ENSG00000104093)
Protein
Protein identifiers
DmX-like protein 1 — Q9Y485 (reviewed: Q9Y485)
All UniProt accessions (3): E7EMZ0, Q9Y485, F5H269
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Expressed in bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis, tonsils, placenta and uterus.
RefSeq proteins (8): NP_001277250, NP_001336168, NP_001336169, NP_001374862, NP_001374863, NP_001374866, NP_001374867, NP_005500 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR022033 | Rav1p_C | Domain |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR052208 | DmX-like/RAVE_component | Family |
Pfam: PF00400, PF12234
UniProt features (41 total): repeat 16, modified residue 11, region of interest 4, sequence variant 4, sequence conflict 3, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q9Y485 — 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.
Post-translational modifications (11): 324, 422, 425, 436, 574, 918, 924, 1830, 1896, 1908, 1970
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 217 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, GCANCTGNY_MYOD_Q6, AREB6_03, BROWNE_HCMV_INFECTION_48HR_DN, TCF4_Q5, ONKEN_UVEAL_MELANOMA_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_VACUOLAR_ACIDIFICATION, MYOD_Q6, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_REGULATION_OF_PH, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, GOBP_MONOATOMIC_ION_HOMEOSTASIS, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, BASAKI_YBX1_TARGETS_DN
GO Biological Process (1): vacuolar acidification (GO:0007035)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): RAVE complex (GO:0043291)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular pH reduction | 1 |
| binding | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1504 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DMXL1 | RAB3GAP1 | Q15042 | 682 |
| DMXL1 | RAB3GAP2 | Q9H2M9 | 649 |
| DMXL1 | MADD | Q8WXG6 | 606 |
| DMXL1 | WDR7 | Q9Y4E6 | 545 |
| DMXL1 | RPS6KA3 | P51812 | 522 |
| DMXL1 | SNX27 | Q96L92 | 509 |
| DMXL1 | TTLL2 | Q9BWV7 | 506 |
| DMXL1 | ROGDI | Q9GZN7 | 462 |
| DMXL1 | COX7B2 | Q8TF08 | 460 |
| DMXL1 | ATP6V1A | P38606 | 453 |
| DMXL1 | GPR153 | Q6NV75 | 443 |
| DMXL1 | RAB3A | P20336 | 441 |
| DMXL1 | PLEKHG1 | Q9ULL1 | 435 |
| DMXL1 | ADPGK | Q9BRR6 | 428 |
| DMXL1 | MSANTD2 | Q6P1R3 | 419 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP6V1C2 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.640 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| ATP6V1B2 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPN1 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| ATP6V1G2 | ATP6V1B1 | psi-mi:“MI:0914”(association) | 0.530 |
| DMXL1 | PDIA6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DMXL1 | H2AC14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RNASEH2A | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAP1B | KLC1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6V1C2 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ROGDI | psi-mi:“MI:0914”(association) | 0.350 | |
| ATP6V1B1 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | FAM186A | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6V1E1 | ATP6V1D | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6V1F | MID1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6V1G1 | MRPL3 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6V1H | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDOST | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| OST4 | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| RPN2 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| STT3B | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| DMXL1 | LLGL1 | psi-mi:“MI:0914”(association) | 0.350 |
| WDR7 | DMXL2 | psi-mi:“MI:0914”(association) | 0.350 |
| atp6v1c_human | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| atp6v1g_human | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP4R1L | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (78): DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), DMXL1 (Affinity Capture-RNA), DMXL1 (Proximity Label-MS), DMXL1 (Proximity Label-MS), DMXL1 (Affinity Capture-RNA), DMXL1 (Two-hybrid), DMXL1 (Proximity Label-MS)
ESM2 similar proteins: A1L3L1, A2RT67, A3KPW7, A4IIA7, A8C750, A8C752, D2HNY3, E1BGQ2, E1C3P4, Q08CL8, Q08DZ8, Q0IHB3, Q149N8, Q1RMU2, Q1RMZ1, Q3MJ13, Q3T1H6, Q5F3F2, Q5RED8, Q5VVJ2, Q5ZJ87, Q66J91, Q69Z66, Q6AYF5, Q6DE97, Q6GR37, Q6P1E7, Q6PNC0, Q6YHU6, Q7TPQ3, Q8BKW4, Q8BXK4, Q8IWR0, Q8IYF3, Q8IZE3, Q8K2I9, Q8NA31, Q8NEN0, Q8NFZ0, Q96EW2
Diamond homologs: P87314, Q6PNC0, Q8BPN8, Q8TDJ6, Q9Y485
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DMXL1 | “form complex” | “RAVE complex, DMXL1 variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 52 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 |
|---|---|---|---|
| Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy | 6 | 106.1× | 5e-10 |
| Insulin receptor recycling | 9 | 90.2× | 5e-14 |
| Transferrin endocytosis and recycling | 9 | 87.2× | 5e-14 |
| ROS and RNS production in phagocytes | 9 | 79.5× | 8e-14 |
| PD-L1(CD274) glycosylation and translocation to plasma membrane | 5 | 68.3× | 3e-07 |
| Amino acids regulate mTORC1 | 9 | 47.5× | 1e-11 |
| Maturation of spike protein | 5 | 34.9× | 9e-06 |
| Maturation of DENV proteins | 5 | 27.8× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| synaptic vesicle lumen acidification | 7 | 145.6× | 5e-12 |
| vacuolar acidification | 6 | 97.7× | 2e-09 |
| regulation of macroautophagy | 8 | 52.6× | 2e-10 |
| proton transmembrane transport | 6 | 41.6× | 4e-07 |
| protein N-linked glycosylation | 5 | 29.3× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
590 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 437 |
| Likely benign | 39 |
| Benign | 54 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7158 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:119071653:CACGG:C | donor_loss | 1.0000 |
| 5:119071656:GGT:G | donor_loss | 1.0000 |
| 5:119071657:G:GC | donor_loss | 1.0000 |
| 5:119071657:G:GG | donor_gain | 1.0000 |
| 5:119071658:T:A | donor_loss | 1.0000 |
| 5:119071659:GAGT:G | donor_loss | 1.0000 |
| 5:119097973:TTTTA:T | acceptor_loss | 1.0000 |
| 5:119097974:TTTAG:T | acceptor_loss | 1.0000 |
| 5:119097975:TTAG:T | acceptor_loss | 1.0000 |
| 5:119097976:TAGG:T | acceptor_loss | 1.0000 |
| 5:119097977:A:AG | acceptor_gain | 1.0000 |
| 5:119097977:AG:A | acceptor_gain | 1.0000 |
| 5:119097978:G:GG | acceptor_gain | 1.0000 |
| 5:119097978:GG:G | acceptor_gain | 1.0000 |
| 5:119097978:GGCTT:G | acceptor_gain | 1.0000 |
| 5:119098101:CAAG:C | donor_loss | 1.0000 |
| 5:119098102:AAGGT:A | donor_loss | 1.0000 |
| 5:119110284:G:GG | donor_gain | 1.0000 |
| 5:119114470:TACA:T | acceptor_loss | 1.0000 |
| 5:119114471:ACAGA:A | acceptor_loss | 1.0000 |
| 5:119114472:CAG:C | acceptor_loss | 1.0000 |
| 5:119114473:A:AG | acceptor_gain | 1.0000 |
| 5:119114473:A:AT | acceptor_loss | 1.0000 |
| 5:119114474:G:GG | acceptor_gain | 1.0000 |
| 5:119114474:GA:G | acceptor_gain | 1.0000 |
| 5:119114474:GAACT:G | acceptor_gain | 1.0000 |
| 5:119116153:CTTA:C | acceptor_loss | 1.0000 |
| 5:119116154:TTA:T | acceptor_loss | 1.0000 |
| 5:119116155:TAG:T | acceptor_loss | 1.0000 |
| 5:119116156:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
20100 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:119116308:T:A | W239R | 1.000 |
| 5:119116308:T:C | W239R | 1.000 |
| 5:119118870:T:A | W267R | 1.000 |
| 5:119118870:T:C | W267R | 1.000 |
| 5:119129288:T:A | W394R | 1.000 |
| 5:119129288:T:C | W394R | 1.000 |
| 5:119133332:T:A | W506R | 1.000 |
| 5:119133332:T:C | W506R | 1.000 |
| 5:119133747:T:C | L608P | 1.000 |
| 5:119133755:T:A | W611R | 1.000 |
| 5:119133755:T:C | W611R | 1.000 |
| 5:119133836:T:C | F638L | 1.000 |
| 5:119133837:T:C | F638S | 1.000 |
| 5:119133838:T:A | F638L | 1.000 |
| 5:119133838:T:G | F638L | 1.000 |
| 5:119134038:T:C | L705P | 1.000 |
| 5:119134046:T:A | W708R | 1.000 |
| 5:119134046:T:C | W708R | 1.000 |
| 5:119177478:T:A | W2294R | 1.000 |
| 5:119177478:T:C | W2294R | 1.000 |
| 5:119216970:G:C | A2645P | 1.000 |
| 5:119233343:T:C | L2760P | 1.000 |
| 5:119233367:T:A | V2768D | 1.000 |
| 5:119233381:T:A | W2773R | 1.000 |
| 5:119233381:T:C | W2773R | 1.000 |
| 5:119071589:T:C | L7P | 0.999 |
| 5:119071605:C:A | N12K | 0.999 |
| 5:119071605:C:G | N12K | 0.999 |
| 5:119097980:C:A | A30D | 0.999 |
| 5:119098010:T:C | L40P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000006788 (5:119082854 C>A,G), RS1000016499 (5:119190375 C>T), RS1000028711 (5:119225666 A>G), RS1000035757 (5:119235164 A>G), RS1000042801 (5:119170552 G>T), RS1000061990 (5:119198017 C>T), RS1000066002 (5:119116528 C>T), RS1000074682 (5:119185071 T>A,C), RS1000087663 (5:119147642 C>G,T), RS1000089122 (5:119074006 C>T), RS1000110621 (5:119083317 G>C), RS1000113691 (5:119139247 A>C,T), RS1000122198 (5:119213729 C>G,T), RS1000130611 (5:119159384 G>A), RS1000145945 (5:119108858 A>G)
Disease associations
OMIM: gene MIM:605671 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_11 | Alzheimer’s disease (cognitive decline) | 9.000000e-07 |
| GCST005956_40 | Waist-to-hip ratio adjusted for BMI | 2.000000e-06 |
| GCST005958_18 | Waist-to-hip ratio adjusted for BMI (age >50) | 9.000000e-07 |
| GCST005962_27 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 9.000000e-09 |
| GCST009391_1634 | Metabolite levels | 1.000000e-06 |
| GCST009798_70 | Asthma | 3.000000e-11 |
| GCST011068_1 | Cognitive impairment in depression | 5.000000e-06 |
| GCST90002390_139 | Mean corpuscular hemoglobin | 4.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0007787 | plasma betaine measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
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 |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Quercetin | decreases expression, affects expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression, increases expression | 1 |
| kojic acid | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| 3-deazaneplanocin | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| oxamflatin | increases expression | 1 |
| apicidin | increases expression | 1 |
| acyline | increases expression | 1 |
| scriptaid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| suberoyl bis-hydroxamic acid | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | decreases 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.