MDGA1
geneOn this page
Also known as GPIMMAMDC3
Summary
MDGA1 (MAM domain containing glycosylphosphatidylinositol anchor 1, HGNC:19267) is a protein-coding gene on chromosome 6p21.2, encoding MAM domain-containing glycosylphosphatidylinositol anchor protein 1 (Q8NFP4). Required for radial migration of cortical neurons in the superficial layer of the neocortex.
This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia.
Source: NCBI Gene 266727 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 148 total
- MANE Select transcript:
NM_153487
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19267 |
| Approved symbol | MDGA1 |
| Name | MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Location | 6p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GPIM, MAMDC3 |
| Ensembl gene | ENSG00000112139 |
| Ensembl biotype | protein_coding |
| OMIM | 609626 |
| Entrez | 266727 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000373401, ENST00000418178, ENST00000434837, ENST00000478143, ENST00000502298, ENST00000505425, ENST00000508399, ENST00000510077, ENST00000515437, ENST00000650466, ENST00000680397, ENST00000681439, ENST00000681472, ENST00000955606
RefSeq mRNA: 1 — MANE Select: NM_153487
NM_153487
CCDS: CCDS47417
Canonical transcript exons
ENST00000434837 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000750150 | 37638537 | 37638667 |
| ENSE00001027646 | 37647173 | 37647324 |
| ENSE00001085862 | 37648982 | 37649266 |
| ENSE00001085864 | 37654800 | 37654932 |
| ENSE00001192353 | 37646198 | 37646375 |
| ENSE00001271144 | 37696745 | 37697883 |
| ENSE00001271157 | 37650109 | 37650405 |
| ENSE00001271167 | 37655700 | 37655896 |
| ENSE00001460477 | 37645933 | 37645956 |
| ENSE00002067969 | 37630679 | 37637459 |
| ENSE00003490505 | 37663967 | 37664106 |
| ENSE00003538223 | 37643809 | 37643943 |
| ENSE00003544477 | 37654274 | 37654543 |
| ENSE00003577669 | 37658245 | 37658419 |
| ENSE00003631148 | 37644497 | 37644649 |
| ENSE00003656202 | 37652011 | 37652340 |
| ENSE00003677673 | 37638205 | 37638313 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 98.18.
FANTOM5 (CAGE): breadth broad, TPM avg 2.1757 / max 280.1258, expressed in 673 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73448 | 1.1811 | 323 |
| 73445 | 0.3057 | 117 |
| 73446 | 0.1921 | 73 |
| 73449 | 0.1894 | 77 |
| 73450 | 0.1166 | 39 |
| 73440 | 0.0606 | 10 |
| 73447 | 0.0444 | 14 |
| 73438 | 0.0410 | 13 |
| 73444 | 0.0216 | 9 |
| 73442 | 0.0107 | 3 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 98.18 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.18 | silver quality |
| cerebellar cortex | UBERON:0002129 | 98.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.73 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.40 | silver quality |
| cerebellum | UBERON:0002037 | 97.11 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.45 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 92.89 | silver quality |
| upper arm skin | UBERON:0004263 | 92.55 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 90.09 | gold quality |
| myocardium | UBERON:0002349 | 89.28 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 88.60 | gold quality |
| vena cava | UBERON:0004087 | 88.57 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 88.42 | silver quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 86.43 | silver quality |
| substantia nigra pars compacta | UBERON:0001965 | 85.84 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 85.65 | silver quality |
| subthalamic nucleus | UBERON:0001906 | 85.34 | silver quality |
| cardia of stomach | UBERON:0001162 | 85.12 | silver quality |
| granulocyte | CL:0000094 | 85.02 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 84.90 | silver quality |
| cerebellar vermis | UBERON:0004720 | 84.71 | gold quality |
| ventral tegmental area | UBERON:0002691 | 84.69 | silver quality |
| vastus lateralis | UBERON:0001379 | 84.59 | silver quality |
| left ovary | UBERON:0002119 | 84.14 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.19 | gold quality |
| pancreatic ductal cell | CL:0002079 | 83.18 | silver quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 83.02 | silver quality |
| pons | UBERON:0000988 | 82.90 | gold quality |
| body of tongue | UBERON:0011876 | 82.90 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
176 targeting MDGA1, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
Literature-anchored findings (GeneRIF, showing 5)
- A novel human gene mapped to chromosome 6p21, encodes a putative glycosylphosphatidylinositol (GPI) anchored protein containing a MAM (meprin, A5 antigen, protein tyrosine phosphatase mu) domain. (GPIM) (PMID:12082541)
- MDGA1, a novel glycosylphosphatidylinositol-anchored protein, is localized in lipid rafts. (PMID:15922729)
- MDGA1 is a new schizophrenia susceptibility gene, and altered neuronal migration is involved in SZ pathology. (PMID:18384059)
- The MDGA1 gene may confer risk to schizophrenia and bipolar disorder in Chinese Han population. (PMID:21146959)
- MDGAs regulate the formation of neuroligin-neurexin trans-synaptic bridges by sterically blocking access of neurexins to neuroligins. (PMID:28641112)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mdga1 | ENSDARG00000074376 |
| mus_musculus | Mdga1 | ENSMUSG00000043557 |
| rattus_norvegicus | Mdga1 | ENSRNOG00000000536 |
Paralogs (4): MDGA2 (ENSG00000139915), MAMDC2 (ENSG00000165072), MAMDC4 (ENSG00000177943), MALRD1 (ENSG00000204740)
Protein
Protein identifiers
MAM domain-containing glycosylphosphatidylinositol anchor protein 1 — Q8NFP4 (reviewed: Q8NFP4)
Alternative names: GPI and MAM protein, Glycosylphosphatidylinositol-MAM, MAM domain-containing protein 3
All UniProt accessions (9): Q8NFP4, A0A3B3IU48, A0A7P0T822, A0A7P0TB21, A0A7P0TB62, D6RFG6, D6RHU8, H0Y4Q2, H0YA23
UniProt curated annotations — full annotation on UniProt →
Function. Required for radial migration of cortical neurons in the superficial layer of the neocortex. Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2.
Subunit / interactions. Interacts heterophilically through its MAM domain with proteins in axon-rich regions and through its Ig-like domains with proteins in differentiating muscle. Interacts (through the Ig-like domains) with NLGN2.
Subcellular location. Cell membrane.
Tissue specificity. Has been found in brain, heart, skeletal muscle and kidney. Found to be overexpressed in tumor tissues.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NFP4-1 | 1 | yes |
| Q8NFP4-2 | 2 |
RefSeq proteins (1): NP_705691* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000998 | MAM_dom | Domain |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050958 | Cell_Adh-Cytoskel_Orgn | Family |
Pfam: PF00629, PF07679, PF13927
UniProt features (65 total): strand 26, glycosylation site 11, domain 8, disulfide bond 6, helix 4, sequence variant 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1, propeptide 1, splice variant 1, turn 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5V5W | X-RAY DIFFRACTION | 2.72 |
| 5XEQ | X-RAY DIFFRACTION | 3.14 |
| 5V5V | X-RAY DIFFRACTION | 4.11 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFP4-F1 | 84.89 | 0.60 |
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): 932
Disulfide bonds (6): 60–108, 157–214, 262–308, 357–415, 463–514, 560–615
Glycosylation sites (11): 42, 90, 235, 247, 257, 307, 331, 432, 655, 747, 826
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 187 (showing top):
GOBP_SPINAL_CORD_DEVELOPMENT, GCACCTT_MIR18A_MIR18B, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, E2F4DP1_01, GOBP_SYNAPSE_ASSEMBLY, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_FOREBRAIN_DEVELOPMENT, NKX61_01, GOBP_FOREBRAIN_CELL_MIGRATION, GOBP_CELL_CELL_ADHESION, GOBP_STARTLE_RESPONSE
GO Biological Process (13): neuron migration (GO:0001764), nervous system development (GO:0007399), brain development (GO:0007420), spinal cord association neuron differentiation (GO:0021527), cerebral cortex radially oriented cell migration (GO:0021799), dopamine metabolic process (GO:0042417), serotonin metabolic process (GO:0042428), prepulse inhibition (GO:0060134), presynapse assembly (GO:0099054), regulation of synaptic membrane adhesion (GO:0099179), inhibitory synapse assembly (GO:1904862), regulation of presynapse assembly (GO:1905606), cell differentiation (GO:0030154)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), axon (GO:0030424), dendrite (GO:0030425), side of membrane (GO:0098552), GABA-ergic synapse (GO:0098982), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| synapse assembly | 2 |
| membrane | 2 |
| neuron projection | 2 |
| cell migration | 1 |
| generation of neurons | 1 |
| system development | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| cell differentiation in spinal cord | 1 |
| dorsal spinal cord development | 1 |
| central nervous system neuron differentiation | 1 |
| cerebral cortex cell migration | 1 |
| catecholamine metabolic process | 1 |
| phenol-containing compound metabolic process | 1 |
| indole-containing compound metabolic process | 1 |
| startle response | 1 |
| negative regulation of response to external stimulus | 1 |
| cellular component assembly | 1 |
| presynapse organization | 1 |
| regulation of cell-cell adhesion | 1 |
| regulation of synapse organization | 1 |
| synaptic membrane adhesion | 1 |
| regulation of synapse assembly | 1 |
| presynapse assembly | 1 |
| regulation of presynapse organization | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cell periphery | 1 |
| dendritic tree | 1 |
| leaflet of membrane bilayer | 1 |
| synapse | 1 |
Protein interactions and networks
STRING
1520 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MDGA1 | NLGN2 | Q8NFZ4 | 848 |
| MDGA1 | NTNG2 | Q96CW9 | 594 |
| MDGA1 | FN1 | P02751 | 588 |
| MDGA1 | NRXN1 | Q9ULB1 | 566 |
| MDGA1 | NRXN2 | Q9P2S2 | 562 |
| MDGA1 | RORB | Q92753 | 528 |
| MDGA1 | KCNIP2 | Q9NS61 | 491 |
| MDGA1 | PTPRM | P28827 | 480 |
| MDGA1 | TMEM19 | Q96HH6 | 456 |
| MDGA1 | NTN5 | Q8WTR8 | 441 |
| MDGA1 | NLGN3 | Q9NZ94 | 431 |
| MDGA1 | DLX1 | P56177 | 429 |
| MDGA1 | NLGN1 | Q8N2Q7 | 427 |
| MDGA1 | EFNA5 | P52803 | 423 |
| MDGA1 | TBR1 | Q16650 | 423 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MDGA1 | CDK5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SYNGAP1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): NLGN2 (Reconstituted Complex), CDK5 (Affinity Capture-MS), MDGA1 (Two-hybrid)
ESM2 similar proteins: A0A140LHF2, A2AJ76, A6H8M9, A8T688, D3YXG0, E7FF10, O60500, P0C0L4, P0C0L5, P21709, P35590, P43121, P50895, P55144, P55146, P59996, P85171, Q00657, Q05695, Q06805, Q06806, Q0PMG2, Q13308, Q3UH53, Q53RD9, Q60750, Q62786, Q7Z5N4, Q8BKG3, Q8HW98, Q8IZJ3, Q8N0Z9, Q8NBP7, Q8NDA2, Q8NFP4, Q8TDY8, Q923P0, Q96MS0, Q96NU0, Q96RW7
Diamond homologs: A2AJA7, O14786, P28824, P85171, P98072, P98073, P98157, Q0PMG2, Q0WYX8, Q63191, Q6UXC1, Q8NFP4, Q8QFX6, Q9QWJ9, A2AJX4, B3EWZ5, B3EWZ6, B3EX02, C0HL13, O75581, O88572, P35953, P60755, P60756, P97435, P98074, Q2PC93, Q5VYJ5, Q7Z553, Q9GMT4, O35375, P28825, P79795, P97333, Q16820, Q61847, Q64230, A2ARV4, O14522, O60462
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
148 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 128 |
| Likely benign | 5 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3779 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:37644495:AC:A | donor_gain | 1.0000 |
| 6:37644496:CC:C | donor_gain | 1.0000 |
| 6:37644646:TTGT:T | acceptor_gain | 1.0000 |
| 6:37644647:TGT:T | acceptor_gain | 1.0000 |
| 6:37644653:CATTT:C | acceptor_gain | 1.0000 |
| 6:37644655:T:TC | acceptor_gain | 1.0000 |
| 6:37644656:T:C | acceptor_gain | 1.0000 |
| 6:37644656:T:TC | acceptor_gain | 1.0000 |
| 6:37644657:T:C | acceptor_gain | 1.0000 |
| 6:37644657:T:TC | acceptor_gain | 1.0000 |
| 6:37644659:A:AC | acceptor_gain | 1.0000 |
| 6:37644659:A:C | acceptor_gain | 1.0000 |
| 6:37644665:C:CT | acceptor_gain | 1.0000 |
| 6:37646196:A:AC | donor_gain | 1.0000 |
| 6:37646197:C:CC | donor_gain | 1.0000 |
| 6:37646197:CG:C | donor_gain | 1.0000 |
| 6:37646197:CGCT:C | donor_gain | 1.0000 |
| 6:37646274:G:C | donor_gain | 1.0000 |
| 6:37646373:CAA:C | acceptor_gain | 1.0000 |
| 6:37646376:C:CC | acceptor_gain | 1.0000 |
| 6:37647168:CCCA:C | donor_loss | 1.0000 |
| 6:37647169:CCA:C | donor_loss | 1.0000 |
| 6:37647172:C:CT | donor_loss | 1.0000 |
| 6:37647273:C:CC | acceptor_gain | 1.0000 |
| 6:37649791:T:TA | donor_gain | 1.0000 |
| 6:37650107:A:AC | donor_gain | 1.0000 |
| 6:37650108:C:CC | donor_gain | 1.0000 |
| 6:37650108:CA:C | donor_gain | 1.0000 |
| 6:37650108:CACTG:C | donor_gain | 1.0000 |
| 6:37650426:A:T | acceptor_gain | 1.0000 |
AlphaMissense
6193 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:37638579:C:A | W875C | 1.000 |
| 6:37638579:C:G | W875C | 1.000 |
| 6:37638661:A:G | L848P | 1.000 |
| 6:37643879:A:C | S822R | 1.000 |
| 6:37643879:A:T | S822R | 1.000 |
| 6:37643881:T:G | S822R | 1.000 |
| 6:37644579:C:A | W773C | 1.000 |
| 6:37644579:C:G | W773C | 1.000 |
| 6:37644581:A:G | W773R | 1.000 |
| 6:37644581:A:T | W773R | 1.000 |
| 6:37647235:A:G | W662R | 1.000 |
| 6:37647235:A:T | W662R | 1.000 |
| 6:37650184:A:C | Y512D | 1.000 |
| 6:37650293:C:A | W475C | 1.000 |
| 6:37650293:C:G | W475C | 1.000 |
| 6:37650295:A:G | W475R | 1.000 |
| 6:37650295:A:T | W475R | 1.000 |
| 6:37652086:A:C | Y413D | 1.000 |
| 6:37652210:C:A | W371C | 1.000 |
| 6:37652210:C:G | W371C | 1.000 |
| 6:37652212:A:G | W371R | 1.000 |
| 6:37652212:A:T | W371R | 1.000 |
| 6:37654433:A:G | W275R | 1.000 |
| 6:37654433:A:T | W275R | 1.000 |
| 6:37654870:G:C | C214W | 1.000 |
| 6:37654872:A:G | C214R | 1.000 |
| 6:37654916:A:G | L199P | 1.000 |
| 6:37655772:C:A | W169C | 1.000 |
| 6:37655772:C:G | W169C | 1.000 |
| 6:37655773:C:G | W169S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000009917 (6:37686639 C>T), RS1000022709 (6:37652774 C>G), RS1000038336 (6:37679748 C>T), RS1000071712 (6:37685537 C>A), RS1000182780 (6:37638445 C>G,T), RS1000189680 (6:37686910 G>C), RS1000198263 (6:37670548 A>G), RS1000207858 (6:37675038 C>G), RS1000265858 (6:37675306 A>G), RS1000280273 (6:37657659 C>G,T), RS1000346277 (6:37697057 G>C,T), RS1000364687 (6:37645539 A>AG), RS1000437087 (6:37657917 C>A,T), RS1000471107 (6:37685580 C>T), RS1000486078 (6:37639841 A>G)
Disease associations
OMIM: gene MIM:609626 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): acute megakaryoblastic leukemia (MONDO:0018872), mediastinal germ cell tumor (MONDO:0021067)
Orphanet (1): Acute megakaryoblastic leukemia (Orphanet:518)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_11 | Acne (severe) | 2.000000e-06 |
| GCST003560_5 | Coronary artery aneurysm in Kawasaki disease | 4.000000e-07 |
| GCST005042_8 | Restless legs syndrome | 3.000000e-26 |
| GCST007387_49 | Insomnia symptoms (never/rarely vs. sometimes/usually) | 8.000000e-07 |
| GCST007388_38 | Insomnia symptoms (never/rarely vs. usually) | 3.000000e-08 |
| GCST007576_100 | Chronotype | 2.000000e-09 |
| GCST008478_23 | Neurological blood protein biomarker levels | 6.000000e-19 |
| GCST008478_24 | Neurological blood protein biomarker levels | 7.000000e-91 |
| GCST008478_25 | Neurological blood protein biomarker levels | 9.000000e-14 |
| GCST008478_26 | Neurological blood protein biomarker levels | 3.000000e-12 |
| GCST008478_27 | Neurological blood protein biomarker levels | 5.000000e-11 |
| GCST008478_50 | Neurological blood protein biomarker levels | 1.000000e-11 |
| GCST008478_62 | Neurological blood protein biomarker levels | 1.000000e-69 |
| GCST010133_10 | Lamb consumption | 2.000000e-08 |
| GCST011494_28 | Daytime nap | 1.000000e-18 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007876 | insomnia measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0008111 | diet measurement |
| EFO:0007828 | daytime rest measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007947 | Leukemia, Megakaryoblastic, Acute | C04.557.337.539.275.450; C15.378.508.539.275.450 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Valproic Acid | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| afuresertib | increases expression | 1 |
| Esketamine | increases expression | 1 |
| sotorasib | increases expression, affects cotreatment | 1 |
| beta-lapachone | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Dasatinib | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
4 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04083170 | PHASE2 | TERMINATED | Cord Blood Transplant With Dilanubicel for the Treatment of HIV Positive Hematologic Cancers |
| NCT00392353 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia |
| NCT01823198 | PHASE1/PHASE2 | COMPLETED | Donor Natural Killer Cells and Donor Stem Cell Transplant in Treating Patients With High Risk Myeloid Malignancies |
| NCT02530619 | Not specified | UNKNOWN | Alisertib in Treating Patients With Myelofibrosis or Relapsed or Refractory Acute Megakaryoblastic Leukemia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acne, acute megakaryoblastic leukemia, coronary aneurysm, mediastinal germ cell tumor, restless legs syndrome