MRS2
gene geneOn this page
Summary
MRS2 (magnesium transporter MRS2, HGNC:13785) is a protein-coding gene on chromosome 6p22.3, encoding Magnesium transporter MRS2 homolog, mitochondrial (Q9HD23). Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix and regulates magnesium metabolism.
Enables magnesium ion transmembrane transporter activity. Involved in mitochondrial magnesium ion transmembrane transport. Located in mitochondrion.
Source: NCBI Gene 57380 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 88 total
- MANE Select transcript:
NM_020662
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13785 |
| Approved symbol | MRS2 |
| Name | magnesium transporter MRS2 |
| Location | 6p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000124532 |
| Ensembl biotype | protein_coding |
| OMIM | 619307 |
| Entrez | 57380 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 12 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000274747, ENST00000378353, ENST00000378386, ENST00000443868, ENST00000446191, ENST00000483634, ENST00000873842, ENST00000873843, ENST00000873844, ENST00000873845, ENST00000873846, ENST00000928434, ENST00000951153
RefSeq mRNA: 4 — MANE Select: NM_020662
NM_001286264, NM_001286265, NM_001286266, NM_020662
CCDS: CCDS4552, CCDS69055, CCDS69056, CCDS75408
Canonical transcript exons
ENST00000378386 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001891447 | 24423584 | 24426190 |
| ENSE00003467310 | 24409461 | 24409573 |
| ENSE00003490084 | 24415033 | 24415163 |
| ENSE00003589496 | 24408408 | 24408444 |
| ENSE00003611268 | 24416397 | 24416513 |
| ENSE00003627392 | 24418084 | 24418236 |
| ENSE00003674813 | 24405168 | 24405241 |
| ENSE00003735277 | 24418461 | 24418578 |
| ENSE00003749210 | 24422937 | 24423050 |
| ENSE00003751839 | 24412222 | 24412395 |
| ENSE00003901383 | 24402936 | 24403236 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 91.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.6026 / max 568.0897, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66382 | 44.6026 | 1822 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 91.76 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.65 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.27 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.16 | gold quality |
| muscle of leg | UBERON:0001383 | 90.14 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.01 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.82 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.47 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.13 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.62 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.59 | gold quality |
| muscle organ | UBERON:0001630 | 88.55 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 88.55 | gold quality |
| heart | UBERON:0000948 | 88.30 | gold quality |
| apex of heart | UBERON:0002098 | 88.21 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.07 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.91 | gold quality |
| body of pancreas | UBERON:0001150 | 87.86 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.32 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.11 | gold quality |
| rectum | UBERON:0001052 | 86.83 | gold quality |
| cerebellum | UBERON:0002037 | 86.73 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.69 | gold quality |
| secondary oocyte | CL:0000655 | 86.40 | gold quality |
| endothelial cell | CL:0000115 | 86.38 | silver quality |
| triceps brachii | UBERON:0001509 | 86.38 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 86.32 | gold quality |
| pancreas | UBERON:0001264 | 86.11 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 85.91 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | yes | 7.28 |
| E-ANND-3 | yes | 5.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
139 targeting MRS2, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
Literature-anchored findings (GeneRIF, showing 9)
- hMrs2 is the major transport protein for Mg (+) uptake into mitochondria and that expression of hMrs2 is essential for the maintenance of respiratory complex I and cell viability. (PMID:18384665)
- By enhanced hsaMrs2p expression, p27 was downregulated whereas cyclinD1 was upregulatedin gastric cancer. (PMID:19242098)
- Multidrug resistance phenotypes is related to MRS2 mitochondrial magnesium channel. (PMID:19270501)
- The results indicate regulation of mitochondrial Mg(2+) via MRS2 critically decides cellular energy status and cell vulnerability via regulation of mitochondrial Mg(2+) level in response to physiological stimuli. (PMID:27458051)
- The human MRS2 magnesium-binding domain is a regulatory feedback switch for channel activity. (PMID:36754568)
- Molecular basis of Mg[2+] permeation through the human mitochondrial Mrs2 channel. (PMID:37543649)
- Cryo-EM structures of human magnesium channel MRS2 reveal gating and regulatory mechanisms. (PMID:37938562)
- Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca[2+] uptake and viability. (PMID:38599304)
- MRS2 missense variation at Asp216 abrogates inhibitory Mg[2+] binding, potentiating cell migration and apoptosis resistance. (PMID:38989547)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrs2 | ENSDARG00000062872 |
| mus_musculus | Mrs2 | ENSMUSG00000021339 |
| rattus_norvegicus | Mrs2 | ENSRNOG00000017545 |
Protein
Protein identifiers
Magnesium transporter MRS2 homolog, mitochondrial — Q9HD23 (reviewed: Q9HD23)
Alternative names: MRS2-like protein
All UniProt accessions (3): Q9HD23, A0A0A0MQX2, H7BZ29
UniProt curated annotations — full annotation on UniProt →
Function. Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix and regulates magnesium metabolism. Also permeable to calcium, sodium and potassium ions. Required for normal expression of the mitochondrial respiratory complex I subunits. May play a role in maintaining the inner mitochondrial membrane potential.
Subunit / interactions. Homopentamer.
Subcellular location. Mitochondrion inner membrane.
Activity regulation. May be regulated by calcium ions.
Domain organisation. The GMN motif acts as an ion selectivity filter.
Miscellaneous. Has the ability to complement a deletion of MRS2 in S.cerevisiae and partly restore mitochondrial magnesium concentrations.
Similarity. Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HD23-1 | 1 | yes |
| Q9HD23-2 | 2 | |
| Q9HD23-3 | 3 | |
| Q9HD23-4 | 4 |
RefSeq proteins (4): NP_001273193, NP_001273194, NP_001273195, NP_065713* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039204 | MRS2-like | Family |
Pfam: PF22099
UniProt features (45 total): strand 12, helix 10, binding site 7, splice variant 5, topological domain 3, sequence variant 2, transmembrane region 2, transit peptide 1, chain 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8IP5 | ELECTRON MICROSCOPY | 2.5 |
| 8IP3 | ELECTRON MICROSCOPY | 2.6 |
| 8IP4 | ELECTRON MICROSCOPY | 2.7 |
| 8TUL | ELECTRON MICROSCOPY | 2.8 |
| 8IP6 | ELECTRON MICROSCOPY | 2.9 |
| 8TS1 | ELECTRON MICROSCOPY | 2.92 |
| 8TS2 | ELECTRON MICROSCOPY | 2.95 |
| 8TS3 | ELECTRON MICROSCOPY | 3.11 |
| 8TUP | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HD23-F1 | 71.97 | 0.34 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (7): 247; 312; 329; 360; 362; 243; 246
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5223345 | Miscellaneous transport and binding events |
| R-HSA-382551 | Transport of small molecules |
MSigDB gene sets: 151 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, WANG_CLIM2_TARGETS_UP, GOBP_MAGNESIUM_ION_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, LIAO_METASTASIS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_TRANSMEMBRANE_TRANSPORT, NUYTTEN_EZH2_TARGETS_DN, GRYDER_PAX3FOXO1_TOP_ENHANCERS, GOCC_ORGANELLE_INNER_MEMBRANE, ZHENG_BOUND_BY_FOXP3
GO Biological Process (4): lactate metabolic process (GO:0006089), mitochondrial magnesium ion transmembrane transport (GO:0045016), transmembrane transport (GO:0055085), monoatomic ion transport (GO:0006811)
GO Molecular Function (3): magnesium ion transmembrane transporter activity (GO:0015095), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| magnesium ion transmembrane transport | 2 |
| transport | 2 |
| monocarboxylic acid metabolic process | 1 |
| cellular process | 1 |
| metal ion transmembrane transporter activity | 1 |
| cation binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRS2 | PANX1 | Q96RD7 | 772 |
| MRS2 | SLC41A1 | Q8IVJ1 | 761 |
| MRS2 | SLC41A3 | Q96GZ6 | 695 |
| MRS2 | SLC41A2 | Q96JW4 | 692 |
| MRS2 | TRPM6 | Q9BX84 | 655 |
| MRS2 | MAGT1 | Q9H0U3 | 645 |
| MRS2 | TRPM7 | Q96QT4 | 599 |
| MRS2 | CNNM2 | Q9H8M5 | 598 |
| MRS2 | HP | P00737 | 592 |
| MRS2 | MMGT1 | Q8N4V1 | 560 |
| MRS2 | NIPAL1 | Q6NVV3 | 541 |
| MRS2 | NIPAL3 | Q6P499 | 515 |
| MRS2 | NIPA2 | Q8N8Q9 | 508 |
| MRS2 | CNNM1 | Q9NRU3 | 505 |
| MRS2 | P0DN79 | P0DN79 | 493 |
IntAct
125 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TBC1D9 | ABHD16A | psi-mi:“MI:0914”(association) | 0.640 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| BZW2 | ENDOD1 | psi-mi:“MI:0914”(association) | 0.640 |
| RSRP1 | C1QBP | psi-mi:“MI:0914”(association) | 0.640 |
| RSRP1 | PSME3 | psi-mi:“MI:0914”(association) | 0.640 |
| BZW2 | MUL1 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| GSDME | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| BZW2 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| NGEF | PRKCI | psi-mi:“MI:0914”(association) | 0.530 |
| KCMF1 | IDH2 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPYL1 | GPC3 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D15 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| SYP | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL9 | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| VTN | HAT1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (123): MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), MRS2 (Affinity Capture-MS)
ESM2 similar proteins: A2WXD3, A2WY50, A2XV81, A2YFN7, A2YTP9, A2Z9W7, A3BV82, B8APK3, O81770, P0CZ21, P0CZ22, P93115, Q01JR9, Q0DWQ1, Q0JBZ6, Q304A0, Q43847, Q4R4M1, Q5NCE8, Q5R447, Q5VP70, Q651V6, Q67UL3, Q67UQ7, Q69QJ7, Q6UTZ2, Q7SFQ9, Q7XE48, Q7XQQ1, Q8L4S2, Q8S1N1, Q93ZD7, Q9AUK4, Q9ET09, Q9FLG2, Q9FZL3, Q9FZL4, Q9HD23, Q9LJN2, Q9LPC5
Diamond homologs: Q4R4M1, Q5NCE8, Q5R447, Q9ET09, Q9HD23, Q9LJN2, Q02783, Q6C8H7, P0CZ22, P87149, Q01926, Q4I298, Q4WCV3, Q59S85, Q5A970, Q6BX67, Q6C2P2, Q6CIB3, Q6CLJ5, Q6FJD1, Q6FV22, Q759B8, Q75A69, Q7SFQ9, Q8IIG4, A2WXD3, A2WY50, A2XCA0, A2XV81, A2YFN7, A2Z9W7, A3BV82, B8AJT9, P0CZ21, Q01JR9, Q0JBZ6, Q10D38, Q10S25, Q1PE39, Q304A0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 159 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 |
|---|---|---|---|
| Peptide chain elongation | 7 | 8.2× | 2e-03 |
| Viral mRNA Translation | 7 | 8.2× | 2e-03 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 8.1× | 2e-03 |
| Influenza Infection | 5 | 8.1× | 9e-03 |
| Selenocysteine synthesis | 7 | 7.7× | 2e-03 |
| Eukaryotic Translation Termination | 7 | 7.7× | 2e-03 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 7.6× | 2e-03 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 7 | 7.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1819 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:24405238:TGTGG:T | donor_loss | 1.0000 |
| 6:24405239:GTG:G | donor_gain | 1.0000 |
| 6:24405240:TGGTG:T | donor_loss | 1.0000 |
| 6:24405241:GGT:G | donor_loss | 1.0000 |
| 6:24405242:G:A | donor_loss | 1.0000 |
| 6:24405243:T:G | donor_loss | 1.0000 |
| 6:24408406:A:AG | acceptor_gain | 1.0000 |
| 6:24408407:G:GG | acceptor_gain | 1.0000 |
| 6:24408407:GAC:G | acceptor_gain | 1.0000 |
| 6:24408407:GACA:G | acceptor_gain | 1.0000 |
| 6:24408407:GACAA:G | acceptor_gain | 1.0000 |
| 6:24408444:GGT:G | donor_loss | 1.0000 |
| 6:24408445:G:GA | donor_loss | 1.0000 |
| 6:24408446:T:A | donor_loss | 1.0000 |
| 6:24408447:G:GG | donor_loss | 1.0000 |
| 6:24412220:A:AG | acceptor_gain | 1.0000 |
| 6:24412221:G:GG | acceptor_gain | 1.0000 |
| 6:24416394:TA:T | acceptor_loss | 1.0000 |
| 6:24416395:A:AG | acceptor_gain | 1.0000 |
| 6:24416395:AGTC:A | acceptor_loss | 1.0000 |
| 6:24416396:G:GT | acceptor_gain | 1.0000 |
| 6:24416396:GT:G | acceptor_gain | 1.0000 |
| 6:24416396:GTCT:G | acceptor_gain | 1.0000 |
| 6:24416509:GTCTT:G | donor_gain | 1.0000 |
| 6:24416510:TCTT:T | donor_gain | 1.0000 |
| 6:24416511:CTT:C | donor_gain | 1.0000 |
| 6:24416511:CTTGT:C | donor_loss | 1.0000 |
| 6:24416512:TT:T | donor_gain | 1.0000 |
| 6:24416512:TTG:T | donor_loss | 1.0000 |
| 6:24416513:TGTAA:T | donor_loss | 1.0000 |
AlphaMissense
2882 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:24422982:A:C | S385R | 1.000 |
| 6:24422984:T:A | S385R | 1.000 |
| 6:24422984:T:G | S385R | 1.000 |
| 6:24418466:G:C | R332P | 0.999 |
| 6:24418490:T:C | L340P | 0.999 |
| 6:24418496:T:C | L342P | 0.999 |
| 6:24416399:T:C | L241P | 0.998 |
| 6:24418504:G:A | G345R | 0.998 |
| 6:24418504:G:C | G345R | 0.998 |
| 6:24418537:G:A | G356R | 0.998 |
| 6:24418537:G:C | G356R | 0.998 |
| 6:24422979:G:A | G384R | 0.998 |
| 6:24422979:G:C | G384R | 0.998 |
| 6:24422986:G:A | G386D | 0.998 |
| 6:24422994:T:A | W389R | 0.998 |
| 6:24422994:T:C | W389R | 0.998 |
| 6:24418505:G:A | G345E | 0.997 |
| 6:24418528:G:A | G353R | 0.997 |
| 6:24418528:G:C | G353R | 0.997 |
| 6:24418529:G:A | G353E | 0.997 |
| 6:24418544:C:A | A358D | 0.997 |
| 6:24418550:G:A | G360E | 0.997 |
| 6:24418554:G:A | M361I | 0.997 |
| 6:24418554:G:C | M361I | 0.997 |
| 6:24418554:G:T | M361I | 0.997 |
| 6:24422949:T:C | F374L | 0.997 |
| 6:24422951:T:A | F374L | 0.997 |
| 6:24422951:T:G | F374L | 0.997 |
| 6:24422964:G:A | G379R | 0.997 |
| 6:24422964:G:C | G379R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000313054 (6:24410612 G>C), RS1000426842 (6:24404819 G>A), RS1000475260 (6:24404644 G>T), RS1000499126 (6:24416929 T>C), RS1000671974 (6:24417417 ATTTTG>A), RS1000761453 (6:24404430 A>G), RS1000845127 (6:24420835 G>A,T), RS1000869067 (6:24409021 A>C), RS1000981613 (6:24409341 G>A,T), RS1001011614 (6:24420833 T>C), RS1001174790 (6:24426319 C>G,T), RS1001432206 (6:24414891 C>A,T), RS1001545964 (6:24419727 C>G,T), RS1001792109 (6:24418406 G>A), RS1001838816 (6:24414455 A>C,G)
Disease associations
OMIM: gene MIM:619307 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 7 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| triphenyl phosphate | affects expression | 1 |
| nickel chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects 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 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Isotretinoin | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Vitamin K 3 | affects 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.