MGA
gene geneOn this page
Also known as KIAA0518MAD5MXD5FLJ12634
Summary
MGA (MAX dimerization protein MGA, HGNC:14010) is a protein-coding gene on chromosome 15q15, encoding MAX gene-associated protein (Q8IWI9). Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes.
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell fate specification and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Part of MLL1 complex.
Source: NCBI Gene 23269 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 99 total — 4 pathogenic, 1 likely-pathogenic
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 4 cancer types
- MANE Select transcript:
NM_001400225
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14010 |
| Approved symbol | MGA |
| Name | MAX dimerization protein MGA |
| Location | 15q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0518, MAD5, MXD5, FLJ12634 |
| Ensembl gene | ENSG00000174197 |
| Ensembl biotype | protein_coding |
| OMIM | 616061 |
| Entrez | 23269 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 12 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000219905, ENST00000545763, ENST00000561532, ENST00000563576, ENST00000564190, ENST00000566288, ENST00000566586, ENST00000566718, ENST00000568255, ENST00000570161, ENST00000682463, ENST00000682598, ENST00000703840, ENST00000703841, ENST00000703842, ENST00000703843, ENST00000916428, ENST00000916429, ENST00000916430, ENST00000916431, ENST00000916432
RefSeq mRNA: 5 — MANE Select: NM_001400225
NM_001080541, NM_001164273, NM_001400225, NM_001400242, NM_001400243
CCDS: CCDS55959, CCDS55960, CCDS91982
Canonical transcript exons
ENST00000703841 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000676928 | 41699064 | 41699159 |
| ENSE00000884069 | 41698863 | 41698941 |
| ENSE00000884071 | 41707728 | 41707859 |
| ENSE00000884072 | 41708104 | 41708208 |
| ENSE00000884073 | 41710691 | 41711349 |
| ENSE00001226338 | 41764886 | 41765062 |
| ENSE00001379445 | 41762129 | 41762362 |
| ENSE00001507293 | 41760323 | 41760529 |
| ENSE00001507294 | 41757788 | 41757839 |
| ENSE00001507295 | 41754437 | 41754567 |
| ENSE00001507296 | 41749111 | 41750615 |
| ENSE00001507299 | 41742546 | 41743172 |
| ENSE00001654253 | 41696075 | 41697023 |
| ENSE00001667590 | 41748637 | 41748927 |
| ENSE00001762919 | 41668828 | 41669958 |
| ENSE00002595159 | 41739906 | 41740203 |
| ENSE00003550063 | 41761739 | 41761850 |
| ENSE00003990062 | 41766004 | 41769940 |
| ENSE00003990063 | 41727180 | 41727406 |
| ENSE00003990067 | 41713151 | 41713496 |
| ENSE00003990069 | 41734522 | 41734594 |
| ENSE00003990070 | 41729164 | 41729349 |
| ENSE00003990073 | 41736181 | 41736698 |
| ENSE00003990076 | 41660405 | 41660525 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 95.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1425 / max 217.9673, expressed in 1800 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146203 | 14.5032 | 1692 |
| 146201 | 2.6832 | 882 |
| 146204 | 2.1742 | 1046 |
| 146200 | 1.5903 | 790 |
| 146202 | 0.1916 | 87 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 95.28 | gold quality |
| oocyte | CL:0000023 | 94.74 | gold quality |
| tendon | UBERON:0000043 | 94.19 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.00 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.70 | gold quality |
| secondary oocyte | CL:0000655 | 92.25 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.00 | gold quality |
| corpus callosum | UBERON:0002336 | 91.46 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.52 | gold quality |
| sperm | CL:0000019 | 89.91 | gold quality |
| sural nerve | UBERON:0015488 | 89.87 | gold quality |
| pylorus | UBERON:0001166 | 88.94 | gold quality |
| globus pallidus | UBERON:0001875 | 88.51 | gold quality |
| nipple | UBERON:0002030 | 88.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.84 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 87.83 | gold quality |
| male germ cell | CL:0000015 | 87.78 | gold quality |
| cardia of stomach | UBERON:0001162 | 87.17 | gold quality |
| bone marrow cell | CL:0002092 | 86.63 | gold quality |
| ventricular zone | UBERON:0003053 | 85.68 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.08 | gold quality |
| ventral tegmental area | UBERON:0002691 | 84.97 | gold quality |
| cortical plate | UBERON:0005343 | 84.84 | gold quality |
| renal medulla | UBERON:0000362 | 84.24 | gold quality |
| superficial temporal artery | UBERON:0001614 | 84.23 | gold quality |
| endometrium | UBERON:0001295 | 84.03 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 83.39 | gold quality |
| tonsil | UBERON:0002372 | 83.36 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.92 | gold quality |
| superior surface of tongue | UBERON:0007371 | 82.40 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.69 |
| E-GEOD-124858 | no | 321.56 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0801.1 | MGA | TBX6-related factors |
| MA1960.1 | MGA::EVX1 | TBX6-related factors::HOX |
| MA1960.2 | MGA::EVX1 | TBX6-related factors::HOX |
JASPAR matrix evidence (PMIDs): PMID:12093383, PMID:24218641
Literature-anchored findings (GeneRIF, showing 8)
- TLR3 and MDA5 signalling, although not expression, is impaired in asthmatic epithelial cells in response to rhinovirus infection. (PMID:24131248)
- Results show that inactivation of MGA was observed in both non-small cell lung cancer and SCLC. (PMID:24362264)
- In conclusion, our study generated five mAbs against MGA and identified the best candidate for detection of MGA expression in breast cancer tissues. (PMID:26272389)
- we suggest that MGA loss-of-function mutations are present in colorectal cancers (PMID:27306572)
- this study shows that LINE1 contributes to autoimmunity through both RIG-I- and MDA5-mediated RNA sensing pathways (PMID:29525183)
- Multi-Omics Analysis Identifies MGA as a Negative Regulator of the MYC Pathway in Lung Adenocarcinoma. (PMID:31862696)
- Functional characterization of cooperating MGA mutations in RUNX1::RUNX1T1 acute myeloid leukemia. (PMID:38454121)
- In vivo CRISPR screens identify Mga as an immunotherapy target in triple-negative breast cancer. (PMID:39298484)
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mgaa | ENSDARG00000078784 |
| mus_musculus | Mga | ENSMUSG00000033943 |
| rattus_norvegicus | Mga | ENSRNOG00000006378 |
| drosophila_melanogaster | H15 | FBGN0016660 |
| drosophila_melanogaster | mid | FBGN0261963 |
| drosophila_melanogaster | ocm | FBGN0266083 |
| caenorhabditis_elegans | WBGENE00003106 | |
| caenorhabditis_elegans | WBGENE00004750 | |
| caenorhabditis_elegans | WBGENE00006545 | |
| caenorhabditis_elegans | WBGENE00006546 | |
| caenorhabditis_elegans | WBGENE00006556 | |
| caenorhabditis_elegans | WBGENE00006557 | |
| caenorhabditis_elegans | WBGENE00006559 | |
| caenorhabditis_elegans | WBGENE00044798 |
Paralogs (16): TBX21 (ENSG00000073861), TBX5 (ENSG00000089225), TBX15 (ENSG00000092607), TBX18 (ENSG00000112837), TBX2 (ENSG00000121068), TBX4 (ENSG00000121075), TBX22 (ENSG00000122145), TBX3 (ENSG00000135111), TBR1 (ENSG00000136535), TBX19 (ENSG00000143178), TBX6 (ENSG00000149922), EOMES (ENSG00000163508), TBXT (ENSG00000164458), TBX20 (ENSG00000164532), TBX10 (ENSG00000167800), TBX1 (ENSG00000184058)
Protein
Protein identifiers
MAX gene-associated protein — Q8IWI9 (reviewed: Q8IWI9)
Alternative names: MAX dimerization protein 5
All UniProt accessions (7): Q8IWI9, A0A8C8P5L8, A0A994J443, A0A994J4J1, A0A994J6L2, H3BP52, H3BU53
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5’-AATTTCACACCTAGGTGTGAAATT-3’ core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor.
Subunit / interactions. Interacts with MAX. Requires dimerization with MAX for E-box binding. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BACC1, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with ZMYND11.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in germ cells and granulosa cells.
Disease relevance. Premature ovarian failure 26 (POF26) [MIM:621065] A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF26 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. Transcription repression is enhanced or dependent on the presence of the T-box DNA-binding domain.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IWI9-4 | 1 | yes |
| Q8IWI9-3 | 2 |
RefSeq proteins (4): NP_001074010, NP_001157745, NP_001387154, NP_001387171 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001699 | TF_T-box | Family |
| IPR008967 | p53-like_TF_DNA-bd_sf | Homologous_superfamily |
| IPR011598 | bHLH_dom | Domain |
| IPR018186 | TF_T-box_CS | Conserved_site |
| IPR032060 | MGA_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR036960 | T-box_sf | Homologous_superfamily |
| IPR037935 | MAX_gene-associated_bHLHzip | Domain |
| IPR046360 | T-box_DNA-bd | Domain |
Pfam: PF00010, PF00907, PF16059
UniProt features (108 total): cross-link 47, compositionally biased region 16, region of interest 13, modified residue 13, sequence variant 7, sequence conflict 6, coiled-coil region 2, chain 1, domain 1, DNA-binding region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q8IWI9 — 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 (60): 534, 607, 645, 851, 924, 1208, 1430, 1457, 2265, 2541, 2910, 2921, 2978, 4, 178, 323, 329, 349, 432, 460 …
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8953750 | Transcriptional Regulation by E2F6 |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 203 (showing top):
MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_ESR1, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MORF_RAD51L3, MODULE_313, MARTINEZ_RB1_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOCC_NUCLEAR_UBIQUITIN_LIGASE_COMPLEX, GOBP_CELL_FATE_SPECIFICATION, MORF_ATF2, GOBP_CHROMATIN_REMODELING, MODULE_207
GO Biological Process (4): cell fate specification (GO:0001708), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of DNA-templated transcription (GO:0045893), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein dimerization activity (GO:0046983), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), MLL1 complex (GO:0071339), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Generic Transcription Pathway | 1 |
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| cell fate commitment | 1 |
| cellular developmental process | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| MLL1/2 complex | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1147 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MGA | MAX | P25912 | 828 |
| MGA | MAVS | Q7Z434 | 700 |
| MGA | L3MBTL2 | Q969R5 | 627 |
| MGA | TBK1 | Q9UHD2 | 549 |
| MGA | DHX58 | Q96C10 | 532 |
| MGA | TANK | Q92844 | 513 |
| MGA | TRAF3 | Q13114 | 511 |
| MGA | IFIH1 | Q9BYX4 | 507 |
| MGA | MXD4 | Q14582 | 478 |
| MGA | RIGI | O95786 | 474 |
| MGA | L3MBTL1 | Q9Y468 | 460 |
| MGA | E2F6 | O75461 | 427 |
| MGA | MNT | Q99583 | 420 |
| MGA | PCGF6 | Q9BYE7 | 418 |
| MGA | MXD1 | Q05195 | 412 |
IntAct
211 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| WDR5 | KMT2D | psi-mi:“MI:0914”(association) | 0.910 |
| RYBP | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.900 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| RYBP | BMI1 | psi-mi:“MI:0914”(association) | 0.850 |
| MAX | MGA | psi-mi:“MI:0915”(physical association) | 0.850 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| E2F6 | WDR5 | psi-mi:“MI:0914”(association) | 0.730 |
| L3MBTL2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| RING1 | CBX4 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| MAX | E2F6 | psi-mi:“MI:0914”(association) | 0.710 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| HSPB2 | BAG3 | psi-mi:“MI:0914”(association) | 0.670 |
| PCGF6 | CBX4 | psi-mi:“MI:0914”(association) | 0.640 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| CBX3 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| PRPS1 | NMT2 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (347): MGA (Protein-peptide), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS), MGA (Affinity Capture-MS)
ESM2 similar proteins: A0A140LFM6, A0A1B0GVH6, A0A1L8H8C0, A0A2K1JJ00, A0JMD2, A2ARZ3, A2AWL7, A4IGV6, A6H5Y1, D3ZJ47, E9Q309, F1QPR4, F5H4B4, H0WFA5, O14513, O35413, O94875, P0CAX8, P48437, Q12912, Q15468, Q1LXZ9, Q1X8D7, Q28FG2, Q3UTJ2, Q3ZBS1, Q499E5, Q49A88, Q4V7H1, Q5T5U3, Q5VT06, Q62417, Q62770, Q69Z38, Q6DFB0, Q80TY4, Q8BLN6, Q8CB14, Q8IWI9, Q8K0T7
Diamond homologs: A1YF56, A2AWL7, D3ZJK7, E1BEA8, O01409, O13161, O15119, O15178, O17212, O43435, O54839, O60806, O70306, O73718, O75333, O95935, O95936, O95947, P20293, P24781, P55965, P56158, P57082, P70323, P70324, P70325, P70326, P70327, P79742, P79777, P79778, P79779, P79944, P80492, P87377, P90971, Q07998, Q13207, Q16650, Q17134
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAX | “up-regulates activity” | MGA | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 211 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 |
|---|---|---|---|
| Transcriptional Regulation by E2F6 | 13 | 26.2× | 7e-13 |
| Transcription of E2F targets under negative control by DREAM complex | 5 | 18.8× | 3e-04 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 9 | 18.6× | 1e-07 |
| Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | 6 | 15.2× | 2e-04 |
| G0 and Early G1 | 5 | 15.2× | 8e-04 |
| SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | 6 | 12.8× | 4e-04 |
| Regulation of endogenous retroelements | 5 | 12.7× | 1e-03 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 12 | 12.1× | 5e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 6 | 12.8× | 1e-03 |
| positive regulation of miRNA transcription | 8 | 12.4× | 4e-05 |
| bone development | 6 | 8.8× | 5e-03 |
| heterochromatin formation | 6 | 8.2× | 7e-03 |
| double-strand break repair | 7 | 7.6× | 4e-03 |
| chromatin remodeling | 19 | 7.4× | 3e-09 |
| transcription by RNA polymerase II | 19 | 7.1× | 5e-09 |
| DNA damage response | 13 | 3.7× | 5e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 4 cancer types — CLLSLL, LUAD, PLMESO, PRAD.
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 30 |
| Likely benign | 12 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3573022 | NM_001400225.1(MGA):c.2709_2712del (p.Ala905fs) | Pathogenic |
| 3573023 | NM_001400225.1(MGA):c.2728C>T (p.Arg910Ter) | Pathogenic |
| 3573024 | NM_001400225.1(MGA):c.1673del (p.Asp558fs) | Pathogenic |
| 585331 | der(15)t(5:15)(q23.2;q15.1) | Pathogenic |
| 800331 | NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) | Likely pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000001663 (15:41667920 C>T), RS1000023361 (15:41738838 C>A,T), RS1000025799 (15:41738014 A>G), RS1000034922 (15:41624680 G>A), RS1000062825 (15:41705547 A>G), RS1000072556 (15:41705879 G>A), RS1000082909 (15:41746023 C>G), RS1000126705 (15:41704612 C>A,G,T), RS1000148127 (15:41667320 C>G,T), RS1000173441 (15:41717580 A>G), RS1000218375 (15:41763730 C>G,T), RS1000220810 (15:41682579 C>A,T), RS1000220851 (15:41673760 C>A), RS1000248133 (15:41711642 AC>A), RS1000256514 (15:41654956 G>T)
Disease associations
OMIM: gene MIM:616061 | disease phenotypes: MIM:621065, MIM:254500
GenCC curated gene-disease
Mondo (3): premature ovarian failure 26 (MONDO:0976129), spindle cell sarcoma (MONDO:0002927), plasma cell myeloma (MONDO:0009693)
Orphanet (2): Multiple myeloma (Orphanet:29073), AL amyloidosis (Orphanet:85443)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009101 | Multiple Myeloma | C04.557.595.500; C14.907.454.460; C15.378.147.780.650; C15.378.463.515.460; C20.683.515.845; C20.683.780.650 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, increases expression, decreases expression | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression, decreases expression | 3 |
| Tretinoin | affects expression, decreases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| butyraldehyde | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Coumestrol | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Vincristine | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5EI | BOD-DSRCT | Cancer cell line |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00104104 | PHASE4 | COMPLETED | A Multiple Myeloma Trial in Patients With Bone Metastases |
| NCT00211211 | PHASE4 | COMPLETED | FREE Study - Fracture Reduction Evaluation |
| NCT00242528 | PHASE4 | WITHDRAWN | Open-label Study, to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Bone Lesions Secondary to Multiple Myeloma. |
| NCT00257114 | PHASE4 | COMPLETED | Evaluation of VELCADE Given as Retreatment to Multiple Myeloma Patients for Efficacy, Safety and Tolerability |
| NCT00352703 | PHASE4 | COMPLETED | PROMPT - Palifermin in Reduction of Oral Mucositis in PBSC Transplantation |
| NCT00361140 | PHASE4 | COMPLETED | Busulfan Safety/Efficacy as Conditioning Prior to Hematopoietic Cell Transplantation (HCT) |
| NCT00622505 | PHASE4 | COMPLETED | Zoledronic Acid Treatment (Every 4 or 12 Weeks) to Prevent Skeletal Complications in Advanced Multiple Myeloma Participants |
| NCT00652041 | PHASE4 | COMPLETED | Bortezomib/Adriamycine/Melfalan/Prednisone (VAMP)/Thalidomide/Cyclophosphamide/Dexamethasone (TaCyDex) or Bortezomib/Melfalan/Prednisone (V-MP)/TaCyDex) in Refractary or Relapsed Multiple Myeloma |
| NCT00733538 | PHASE4 | COMPLETED | Stage I Multiple Myeloma Treatment |
| NCT01087008 | PHASE4 | COMPLETED | Zoledronic Acid in Patients With Multiple Myeloma and Asymptomatic Biochemical Relapse |
| NCT01249690 | PHASE4 | UNKNOWN | Efficacy Study of PAD and TAD in Newly Diagnosed Multiple Myeloma |
| NCT01410929 | PHASE4 | WITHDRAWN | Evaluation of Vertebral Compression Fracture Fixation With RF Kyphoplasty in Patients With Multiple Myeloma |
| NCT01731886 | PHASE4 | COMPLETED | Lenalidomide and Dexamethasone With/Without Stem Cell Transplant in Patients With Multiple Myeloma |
| NCT01868828 | PHASE4 | UNKNOWN | A Study of PAD Versus Velcade, Cyclophosphamide and Dexamethasone (VCD) Treatment in Subjects With Multiple Myeloma |
| NCT02268890 | PHASE4 | COMPLETED | A Pharmacokinetic Study of Bortezomib in Taiwanese Participants With Multiple Myeloma |
| NCT02286830 | PHASE4 | COMPLETED | Prolonged Protection From Bone Disease in Multiple Myeloma |
| NCT02559154 | PHASE4 | UNKNOWN | Modified Bortezomib-based Combination Therapy for Multiple Myeloma |
| NCT02577783 | PHASE4 | UNKNOWN | PDD vs PAD to Treat Initially Diagnosed MM |
| NCT02773550 | PHASE4 | TERMINATED | Treatment With a Scheme With Low Doses of Bortezomib / Melphalan / Prednisone (MPV) in Patients With Multiple Myeloma |
| NCT02958969 | PHASE4 | COMPLETED | Apixaban for Primary Prevention of Venous Thromboembolism in Patients With Multiple Myeloma |
| NCT03173092 | PHASE4 | TERMINATED | A Study of Ixazomib (NINLARO®) in Combination With Lenalidomide and Dexamethasone (IRD) for the Treatment of Participants With Multiple Myeloma (MM) |
| NCT03619252 | PHASE4 | COMPLETED | Pneumococcal Vaccination of Multiple Myeloma Patients on Novel Agents |
| NCT03768960 | PHASE4 | COMPLETED | A Study of DARZALEX (Daratumumab) In Indian Participants With Relapsed and Refractory Multiple Myeloma, Whose Prior Therapy Included a Proteasome Inhibitor and an Immunomodulatory Agent |
| NCT03829371 | PHASE4 | ACTIVE_NOT_RECRUITING | STUDY COMPARING TWO STANDARD TREATMENTS IN AUTOLOGOUS STEM CELL TRANSPLANTATION INELIGIBLE POPULATION AFFECTED BY MULTIPLE MYELOMA |
| NCT03908138 | PHASE4 | UNKNOWN | RDD Versus VDD in Newly Diagnosed Patients With Multiple Myeloma |
| NCT04217967 | PHASE4 | COMPLETED | Ixazomib, Lenalidomide, and Combination for Maintenance in NDMM Patients |
| NCT04952766 | PHASE4 | COMPLETED | Study Evaluating SARS-CoV-2 (COVID-19) Humoral Response After BNT162b2 Vaccine in Immunocompromised Adults Compared to Healthy Adults |
| NCT04989140 | PHASE4 | UNKNOWN | Study of Pomalidomide, Oral Dexamethasone and Ixazomib in Patients With Relapsed MM Who Have Received Lenalidomide |
| NCT05183139 | PHASE4 | WITHDRAWN | A Multicenter In-class Transition Study of Ixazomib Combined With Pomalidomide and Dexamethasone or With Lenalidomide and Dexamethasone in Adults With Relapsed/Refractory Multiple Myeloma |
| NCT05201781 | PHASE4 | RECRUITING | A Long-term Study for Participants Previously Treated With Ciltacabtagene Autoleucel |
| NCT05429515 | PHASE4 | NOT_YET_RECRUITING | Effect of HFR-SUPRA in the Treatment of Multiple Myeloma-related Acute Kidney Injury |
| NCT05511428 | PHASE4 | COMPLETED | Home Based Daratumumab Administration for Patients With Multiple Myeloma |
| NCT05545202 | PHASE4 | UNKNOWN | A Randomized, Comparative, Double-blind Trial of Pentaisomaltose and Dimethyl Sulphoxide for Cryoprotection of Hematopoietic Stem Cells in Subjects With Multiple Myeloma or Malignant Lymphoma With a Need for Autologous Transplantation |
| NCT05555329 | PHASE4 | COMPLETED | Alternative Dosing Scheme of Pomalidomide 4 mg Every Other Day Versus Pomalidomide 2 mg and 4 mg Every Day; the POMAlternative Study |
| NCT05722405 | PHASE4 | RECRUITING | Ixazomib Plus Low-dose Lenalidomide Versus Ixazomib Alone for Maintenance Treatment of High Risk Multiple Myeloma |
| NCT05855122 | PHASE4 | UNKNOWN | Safety and ASCT-related Symptom Burden Optimization of Tocilizumab in ASCT Following HD Melphalan Conditioning for Multiple Myeloma Patients |
| NCT05944783 | PHASE4 | NOT_YET_RECRUITING | Bioequivalence Studies of Dasatinib 100 Mg |
| NCT06057402 | PHASE4 | RECRUITING | Elranatamab Post Trial Access Study for Participants With Multiple Myeloma (MM) |
| NCT06251076 | PHASE4 | RECRUITING | Plan Development for Giving Teclistamab in the Outpatient Setting |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): plasma cell myeloma, premature ovarian failure 26, spindle cell sarcoma