MMGT1
gene geneOn this page
Also known as EMC5
Summary
MMGT1 (membrane magnesium transporter 1, HGNC:28100) is a protein-coding gene on chromosome Xq26.3, encoding ER membrane protein complex subunit 5 (Q8N4V1). Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. It is a selective cancer dependency (DepMap: 37.2% of cell lines).
Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex.
Source: NCBI Gene 93380 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
- Clinical variants (ClinVar): 66 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 37.2% of screened cell lines
- MANE Select transcript:
NM_173470
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28100 |
| Approved symbol | MMGT1 |
| Name | membrane magnesium transporter 1 |
| Location | Xq26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EMC5 |
| Ensembl gene | ENSG00000169446 |
| Ensembl biotype | protein_coding |
| OMIM | 301098 |
| Entrez | 93380 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000305963, ENST00000679621, ENST00000680510, ENST00000681201, ENST00000871526, ENST00000922959
RefSeq mRNA: 2 — MANE Select: NM_173470
NM_001330000, NM_173470
CCDS: CCDS14653
Canonical transcript exons
ENST00000305963 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001174129 | 135967390 | 135967493 |
| ENSE00001174137 | 135971058 | 135971110 |
| ENSE00001931815 | 135960588 | 135965183 |
| ENSE00003914796 | 135973597 | 135973988 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 97.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.2560 / max 610.8207, expressed in 1823 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200628 | 18.9312 | 1809 |
| 200625 | 14.2351 | 1773 |
| 200624 | 2.6726 | 1312 |
| 200627 | 0.7775 | 457 |
| 200629 | 0.6395 | 394 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.80 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.45 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.25 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.21 | gold quality |
| oocyte | CL:0000023 | 97.02 | gold quality |
| upper arm skin | UBERON:0004263 | 96.83 | gold quality |
| cartilage tissue | UBERON:0002418 | 95.97 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.79 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.79 | gold quality |
| myocardium | UBERON:0002349 | 95.69 | gold quality |
| oviduct epithelium | UBERON:0004804 | 95.64 | gold quality |
| parotid gland | UBERON:0001831 | 95.60 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.57 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.51 | gold quality |
| deltoid | UBERON:0001476 | 95.40 | gold quality |
| parietal pleura | UBERON:0002400 | 94.62 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.40 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 94.36 | gold quality |
| caput epididymis | UBERON:0004358 | 94.18 | gold quality |
| decidua | UBERON:0002450 | 94.03 | gold quality |
| visceral pleura | UBERON:0002401 | 93.94 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.88 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.86 | gold quality |
| mammary duct | UBERON:0001765 | 93.69 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 93.69 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.61 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.59 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.46 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.20 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6075 | no | 531.76 |
| E-ANND-3 | no | 4.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
193 targeting MMGT1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| 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-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 37.2% of screened cell lines.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mmgt1 | ENSDARG00000010553 |
| mus_musculus | Mmgt1 | ENSMUSG00000061273 |
| rattus_norvegicus | Mmgt1 | ENSRNOG00000065883 |
Paralogs (1): NDUFAF6 (ENSG00000156170)
Protein
Protein identifiers
ER membrane protein complex subunit 5 — Q8N4V1 (reviewed: Q8N4V1)
Alternative names: Membrane magnesium transporter 1, Transmembrane protein 32
All UniProt accessions (3): A0A7P0T9E6, A0A7P0TBL5, Q8N4V1
UniProt curated annotations — full annotation on UniProt →
Function. Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes. By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes. May be involved in Mg(2+) transport.
Subunit / interactions. Component of the ER membrane protein complex (EMC).
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane. Early endosome membrane.
Similarity. Belongs to the membrane magnesium transporter (TC 1.A.67) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N4V1-1 | 1 | yes |
| Q8N4V1-2 | 2 |
RefSeq proteins (2): NP_001316929, NP_775741* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018937 | MMgT | Family |
Pfam: PF10270
UniProt features (16 total): helix 6, topological domain 3, strand 2, transmembrane region 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8J0O | ELECTRON MICROSCOPY | 3.32 |
| 7ADO | ELECTRON MICROSCOPY | 3.39 |
| 6WW7 | ELECTRON MICROSCOPY | 3.4 |
| 8EOI | ELECTRON MICROSCOPY | 3.4 |
| 8J0N | ELECTRON MICROSCOPY | 3.47 |
| 7ADP | ELECTRON MICROSCOPY | 3.6 |
| 8S9S | ELECTRON MICROSCOPY | 3.6 |
| 9ZZ6 | ELECTRON MICROSCOPY | 4.16 |
| 6Z3W | ELECTRON MICROSCOPY | 6.4 |
| 9C7V | ELECTRON MICROSCOPY | 6.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N4V1-F1 | 78.88 | 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.
Post-translational modifications (1): 120
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5223345 | Miscellaneous transport and binding events |
MSigDB gene sets: 190 (showing top):
BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_TRANSITION_METAL_ION_TRANSPORT, ATACCTC_MIR202, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_MAGNESIUM_ION_TRANSPORT, GOBP_IRON_ION_TRANSPORT, GOBP_COPPER_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, CREB_Q4, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, AAAGGGA_MIR204_MIR211, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, CREB_Q2_01, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_MEMBRANE_ORGANIZATION
GO Biological Process (9): copper ion transport (GO:0006825), magnesium ion transport (GO:0015693), protein insertion into ER membrane by stop-transfer membrane-anchor sequence (GO:0045050), tail-anchored membrane protein insertion into ER membrane (GO:0071816), monoatomic cation transport (GO:0006812), cobalt ion transport (GO:0006824), iron ion transport (GO:0006826), iron ion transmembrane transport (GO:0034755), magnesium ion transmembrane transport (GO:1903830)
GO Molecular Function (6): cobalt ion transmembrane transporter activity (GO:0015087), ferrous iron transmembrane transporter activity (GO:0015093), magnesium ion transmembrane transporter activity (GO:0015095), obsolete inorganic cation transmembrane transporter activity (GO:0022890), protein binding (GO:0005515), membrane insertase activity (GO:0032977)
GO Cellular Component (11): Golgi membrane (GO:0000139), early endosome (GO:0005769), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), early endosome membrane (GO:0031901), EMC complex (GO:0072546), cytoplasm (GO:0005737), endosome (GO:0005768), endoplasmic reticulum (GO:0005783)
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 |
|---|---|
| transition metal ion transport | 3 |
| monoatomic cation transmembrane transport | 3 |
| endomembrane system | 3 |
| protein insertion into ER membrane | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| metal ion transport | 1 |
| monoatomic ion transport | 1 |
| iron ion transport | 1 |
| magnesium ion transport | 1 |
| cobalt ion transport | 1 |
| transition metal ion transmembrane transporter activity | 1 |
| iron ion transmembrane transporter activity | 1 |
| metal ion transmembrane transporter activity | 1 |
| magnesium ion transmembrane transport | 1 |
| binding | 1 |
| establishment of protein localization to membrane | 1 |
| protein carrier activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| endosome | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| endoplasmic reticulum membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
1136 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MMGT1 | EMC1 | Q8N766 | 914 |
| MMGT1 | EMC4 | Q5J8M3 | 907 |
| MMGT1 | EMC6 | Q9BV81 | 898 |
| MMGT1 | EMC3 | Q9P0I2 | 885 |
| MMGT1 | EMC2 | Q15006 | 873 |
| MMGT1 | EMC7 | Q9NPA0 | 852 |
| MMGT1 | EMC8 | O43402 | 823 |
| MMGT1 | EMC10 | Q5UCC4 | 800 |
| MMGT1 | EMC9 | Q9Y3B6 | 736 |
| MMGT1 | NIPAL1 | Q6NVV3 | 643 |
| MMGT1 | NIPAL3 | Q6P499 | 575 |
| MMGT1 | SLC41A1 | Q8IVJ1 | 572 |
| MMGT1 | MAGT1 | Q9H0U3 | 567 |
| MMGT1 | MRS2 | Q9HD23 | 560 |
| MMGT1 | DDOST | P39656 | 542 |
IntAct
261 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EMC2 | EMC8 | psi-mi:“MI:0914”(association) | 0.940 |
| EMC8 | EMC2 | psi-mi:“MI:0914”(association) | 0.940 |
| MMGT1 | EMC6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| EMC6 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| EMC7 | EMC8 | psi-mi:“MI:0914”(association) | 0.790 |
| MMGT1 | EMC8 | psi-mi:“MI:0914”(association) | 0.730 |
| NDUFA3 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MFSD5 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| EMC1 | EMC8 | psi-mi:“MI:0914”(association) | 0.640 |
| EMC10 | EMC8 | psi-mi:“MI:0915”(physical association) | 0.620 |
| PEX16 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | TMEM229B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35E4 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX3 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | TMEM14C | psi-mi:“MI:0915”(physical association) | 0.560 |
| ORMDL2 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMED8 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | TMEM60 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | LNPEP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMBIM6 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | ADGRE2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | ARLN | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMGT1 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (528): MMGT1 (Affinity Capture-MS), MMGT1 (Affinity Capture-MS), MMGT1 (Affinity Capture-MS), EMC9 (Affinity Capture-MS), UBQLN2 (Affinity Capture-MS), EMC8 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC10 (Affinity Capture-MS), EMC6 (Affinity Capture-MS), EMC1 (Affinity Capture-MS), EMC7 (Affinity Capture-MS), MMGT1 (Affinity Capture-MS), MMGT1 (Affinity Capture-MS), EMC4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0N7L4N2, A5WV69, B9G4M9, C5DQ18, D0NMF4, E2AX35, F4JP36, O13980, O43085, O60291, O96838, P0CO33, P0CV11, P34335, P34535, P34553, P39718, P53117, P53224, P53938, P58239, P60571, P62512, P85831, P87139, Q09446, Q10109, Q19192, Q20687, Q4WIN1, Q5B8K7, Q5R9E4, Q624D2, Q6C3U1, Q6CAP3, Q6TLE4, Q700C2, Q74ZY6, Q756T2, Q75C24
Diamond homologs: B5DF51, Q05AU4, Q28HV5, Q2HIM5, Q32LC4, Q5RA70, Q6GQ49, Q6P719, Q6TLE4, Q86J02, Q8K273, Q8N4V1, Q8R3L0
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MMGT1 | “form complex” | “Endoplasmic reticulum membrane complex- EMC9 variant” | binding |
| MMGT1 | “form complex” | “Endoplasmic reticulum membrane complex, EMC8 variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 93 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| tail-anchored membrane protein insertion into ER membrane | 8 | 102.6× | 6e-13 |
| obsolete vesicle docking | 6 | 63.0× | 5e-08 |
| vesicle fusion | 6 | 49.5× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 1 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
548 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:135965183:CCT:C | acceptor_gain | 1.0000 |
| X:135965185:T:C | acceptor_gain | 1.0000 |
| X:135965185:T:TC | acceptor_gain | 1.0000 |
| X:135967388:A:AC | donor_gain | 1.0000 |
| X:135967389:C:CT | donor_gain | 1.0000 |
| X:135967389:CTTA:C | donor_gain | 1.0000 |
| X:135967392:A:AC | donor_gain | 1.0000 |
| X:135967490:CTAT:C | acceptor_gain | 1.0000 |
| X:135971056:A:AC | donor_gain | 1.0000 |
| X:135971057:C:CC | donor_gain | 1.0000 |
| X:135971057:CA:C | donor_gain | 1.0000 |
| X:135971057:CAT:C | donor_gain | 1.0000 |
| X:135971107:CGAT:C | acceptor_gain | 1.0000 |
| X:135971111:C:CC | acceptor_gain | 1.0000 |
| X:135973595:A:AC | donor_gain | 1.0000 |
| X:135973596:C:CC | donor_gain | 1.0000 |
| X:135973596:CG:C | donor_gain | 1.0000 |
| X:135973596:CGCTG:C | donor_gain | 1.0000 |
| X:135965184:C:CC | acceptor_gain | 0.9900 |
| X:135967382:AGACT:A | donor_loss | 0.9900 |
| X:135967383:GACT:G | donor_loss | 0.9900 |
| X:135967384:ACTTA:A | donor_loss | 0.9900 |
| X:135967385:C:CG | donor_loss | 0.9900 |
| X:135967386:T:TC | donor_loss | 0.9900 |
| X:135967387:TAC:T | donor_loss | 0.9900 |
| X:135967388:ACT:A | donor_loss | 0.9900 |
| X:135967389:CTT:C | donor_gain | 0.9900 |
| X:135967389:CTTAT:C | donor_gain | 0.9900 |
| X:135967393:T:C | donor_gain | 0.9900 |
| X:135967493:TC:T | acceptor_loss | 0.9900 |
AlphaMissense
832 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:135967450:C:T | G59D | 1.000 |
| X:135967451:C:G | G59R | 1.000 |
| X:135973638:C:T | G13D | 1.000 |
| X:135973639:C:G | G13R | 1.000 |
| X:135965134:G:T | R96S | 0.999 |
| X:135965150:A:C | F90L | 0.999 |
| X:135965150:A:T | F90L | 0.999 |
| X:135965152:A:G | F90L | 0.999 |
| X:135965162:A:C | N86K | 0.999 |
| X:135965162:A:T | N86K | 0.999 |
| X:135967399:A:G | L76P | 0.999 |
| X:135967426:A:G | F67S | 0.999 |
| X:135967457:A:G | C57R | 0.999 |
| X:135967492:A:T | I45K | 0.999 |
| X:135971107:C:G | R28P | 0.999 |
| X:135973605:G:T | A24D | 0.999 |
| X:135973614:G:T | A21D | 0.999 |
| X:135965130:C:T | G97D | 0.998 |
| X:135965131:C:G | G97R | 0.998 |
| X:135965141:A:C | F93L | 0.998 |
| X:135965141:A:T | F93L | 0.998 |
| X:135965142:A:G | F93S | 0.998 |
| X:135965143:A:G | F93L | 0.998 |
| X:135965151:A:G | F90S | 0.998 |
| X:135967444:A:T | V61D | 0.998 |
| X:135967447:A:T | I60K | 0.998 |
| X:135967492:A:C | I45R | 0.998 |
| X:135971065:G:T | P42Q | 0.998 |
| X:135971095:C:G | R32P | 0.998 |
| X:135973603:C:G | A25P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000118806 (X:135970638 G>A,T), RS1000519796 (X:135970385 C>T), RS1000935744 (X:135963283 A>C), RS1000981854 (X:135963634 G>A), RS1001114875 (X:135972869 C>T), RS1001301501 (X:135970321 C>A,T), RS1001687263 (X:135969974 G>A), RS1002063114 (X:135962599 G>A), RS1002708008 (X:135972566 A>C,G), RS1002956244 (X:135968167 T>G), RS1003376804 (X:135968544 T>C), RS1004069630 (X:135967748 T>A), RS1005648025 (X:135964436 C>T), RS1005741404 (X:135965258 C>T), RS1006375541 (X:135974827 G>A,T)
Disease associations
OMIM: gene MIM:301098 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Moderate | Autosomal dominant |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067286 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.59 | Kd | 2597 | nM | CHEMBL5653589 |
| 5.59 | ED50 | 2597 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148758: Binding affinity to human MMGT1 incubated for 45 mins by Kinobead based pull down assay | kd | 2.5967 | uM |
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arbutin | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gold | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651800 | Binding | Binding affinity to human MMGT1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder