MAGOHB
gene geneOn this page
Also known as FLJ10292MGN2
Summary
MAGOHB (mago homolog B, exon junction complex subunit, HGNC:25504) is a protein-coding gene on chromosome 12p13.2, encoding Protein mago nashi homolog 2 (Q96A72). Required for pre-mRNA splicing as component of the spliceosome.
Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in nucleus. Part of U2-type catalytic step 1 spliceosome; U2-type precatalytic spliceosome; and exon-exon junction subcomplex mago-y14.
Source: NCBI Gene 55110 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 35 total
- MANE Select transcript:
NM_018048
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25504 |
| Approved symbol | MAGOHB |
| Name | mago homolog B, exon junction complex subunit |
| Location | 12p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10292, MGN2 |
| Ensembl gene | ENSG00000111196 |
| Ensembl biotype | protein_coding |
| OMIM | 619552 |
| Entrez | 55110 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 5 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron
ENST00000320756, ENST00000398874, ENST00000537852, ENST00000539554, ENST00000540074, ENST00000543929, ENST00000544176, ENST00000544850, ENST00000545236, ENST00000546173, ENST00000625272, ENST00000903320, ENST00000939461
RefSeq mRNA: 3 — MANE Select: NM_018048
NM_001300739, NM_001319985, NM_018048
CCDS: CCDS76532, CCDS8628
Canonical transcript exons
ENST00000320756 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002290598 | 10613439 | 10613609 |
| ENSE00003541466 | 10609831 | 10609941 |
| ENSE00003551921 | 10607854 | 10607936 |
| ENSE00003593392 | 10610622 | 10610680 |
| ENSE00003751297 | 10604193 | 10606374 |
Expression profiles
Bgee: expression breadth ubiquitous, 210 present calls, max score 92.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.0767 / max 975.0310, expressed in 1810 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 129533 | 15.7584 | 1789 |
| 129534 | 14.3183 | 1792 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 92.72 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.89 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.91 | gold quality |
| ventricular zone | UBERON:0003053 | 90.43 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.61 | gold quality |
| sural nerve | UBERON:0015488 | 89.49 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.06 | gold quality |
| cortical plate | UBERON:0005343 | 88.55 | gold quality |
| monocyte | CL:0000576 | 88.32 | gold quality |
| mononuclear cell | CL:0000842 | 88.10 | gold quality |
| leukocyte | CL:0000738 | 88.02 | gold quality |
| rectum | UBERON:0001052 | 87.70 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.03 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.80 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.77 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.03 | gold quality |
| body of pancreas | UBERON:0001150 | 86.01 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.39 | gold quality |
| pancreas | UBERON:0001264 | 85.33 | gold quality |
| ectocervix | UBERON:0012249 | 85.28 | gold quality |
| left coronary artery | UBERON:0001626 | 85.23 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.08 | gold quality |
| body of uterus | UBERON:0009853 | 85.07 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.97 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.78 | gold quality |
| endocervix | UBERON:0000458 | 84.76 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.73 | gold quality |
| left ovary | UBERON:0002119 | 84.72 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.52 | gold quality |
| pituitary gland | UBERON:0000007 | 84.51 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 19.96 |
| E-ANND-3 | yes | 6.42 |
| E-MTAB-6379 | no | 705.81 |
| E-GEOD-124858 | no | 169.23 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KMT2A
miRNA regulators (miRDB)
110 targeting MAGOHB, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
Literature-anchored findings (GeneRIF, showing 2)
- findings show 2 genes MAGOH and MAGOHB are expressed in mammals; in macrophages, expression of MAGOHB but not MAGOH mRNA increases after LPS stimulation; both MAGOH proteins interact with other exon junction complex (EJC) components, incorporate into mRNA-bound EJCs and activate nonsense-mediated decay (PMID:23917022)
- MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A. (PMID:36497117)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | magoh | ENSDARG00000038635 |
| mus_musculus | Magohb | ENSMUSG00000030188 |
| rattus_norvegicus | Magohb | ENSRNOG00000010316 |
| drosophila_melanogaster | mago | FBGN0002736 |
| caenorhabditis_elegans | mag-1 | WBGENE00003123 |
Paralogs (1): MAGOH (ENSG00000162385)
Protein
Protein identifiers
Protein mago nashi homolog 2 — Q96A72 (reviewed: Q96A72)
All UniProt accessions (6): Q96A72, A0A023T6R1, F5H124, F5H3U9, F5H6N1, F5H6P7
UniProt curated annotations — full annotation on UniProt →
Function. Required for pre-mRNA splicing as component of the spliceosome. Plays a redundant role with MAGOH in the exon junction complex and in the nonsense-mediated decay (NMD) pathway.
Subunit / interactions. Component of the pre-catalytic, catalytic and post-catalytic spliceosome complexes. Heterodimer with RBM8A. Core component of the mRNA splicing-dependent exon junction complex (EJC); the core complex contains CASC3, EIF4A3, MAGOH or MAGOHB, and RBM8A.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the mago nashi family.
RefSeq proteins (3): NP_001287668, NP_001306914, NP_060518* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004023 | Mago_nashi | Family |
| IPR036605 | Mago_nashi_sf | Homologous_superfamily |
Pfam: PF02792
UniProt features (16 total): strand 7, helix 5, initiator methionine 1, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6ICZ | ELECTRON MICROSCOPY | 3 |
| 6QDV | ELECTRON MICROSCOPY | 3.3 |
| 5XJC | ELECTRON MICROSCOPY | 3.6 |
| 5YZG | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A72-F1 | 93.61 | 0.86 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
17 pathways
| ID | Pathway |
|---|---|
| R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72187 | mRNA 3’-end processing |
| R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| R-HSA-73856 | RNA Polymerase II Transcription Termination |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-376176 | Signaling by ROBO receptors |
| R-HSA-422475 | Axon guidance |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8953854 | Metabolism of RNA |
| R-HSA-927802 | Nonsense-Mediated Decay (NMD) |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 244 (showing top):
GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NUCLEAR_TRANSPORT, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, MARTINEZ_RB1_TARGETS_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KORKOLA_EMBRYONAL_CARCINOMA_UP, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, RAHMAN_TP53_TARGETS_PHOSPHORYLATED, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_RNA_SPLICING
GO Biological Process (8): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), mRNA splicing, via spliceosome (GO:0000398), mRNA export from nucleus (GO:0006406), RNA splicing (GO:0008380), regulation of mRNA processing (GO:0050684), regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000622), mRNA processing (GO:0006397), mRNA transport (GO:0051028)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (10): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), exon-exon junction complex (GO:0035145), neuronal cell body (GO:0043025), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 1 spliceosome (GO:0071006), catalytic step 2 spliceosome (GO:0071013), exon-exon junction subcomplex mago-y14 (GO:1990501), spliceosomal complex (GO:0005681)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Processing of Capped Intron-Containing Pre-mRNA | 3 |
| Metabolism of RNA | 2 |
| Transport of Mature Transcript to Cytoplasm | 1 |
| mRNA Splicing | 1 |
| Signaling by ROBO receptors | 1 |
| Nonsense-Mediated Decay (NMD) | 1 |
| RNA Polymerase II Transcription | 1 |
| Axon guidance | 1 |
| Nervous system development | 1 |
| Gene expression (Transcription) | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mRNA processing | 2 |
| RNA processing | 2 |
| cellular anatomical structure | 2 |
| nuclear protein-containing complex | 2 |
| U2-type spliceosomal complex | 2 |
| U2 snRNP | 2 |
| nuclear-transcribed mRNA catabolic process | 1 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| RNA export from nucleus | 1 |
| gene expression | 1 |
| mRNA transport | 1 |
| regulation of mRNA metabolic process | 1 |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1 |
| regulation of mRNA catabolic process | 1 |
| mRNA metabolic process | 1 |
| RNA transport | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| U1 snRNP | 1 |
| U4/U6 x U5 tri-snRNP complex | 1 |
| precatalytic spliceosome | 1 |
| U6 snRNP | 1 |
| catalytic step 1 spliceosome | 1 |
| Prp19 complex | 1 |
| spliceosomal complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
| exon-exon junction complex | 1 |
| ATPase inhibitor complex | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
1914 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAGOHB | CASC3 | O15234 | 999 |
| MAGOHB | EIF4A3 | P38919 | 999 |
| MAGOHB | RBM8A | Q9Y5S9 | 999 |
| MAGOHB | UPF3A | Q9H1J1 | 969 |
| MAGOHB | PYM1 | Q9BRP8 | 964 |
| MAGOHB | UPF3B | Q9BZI7 | 962 |
| MAGOHB | RNPS1 | Q15287 | 960 |
| MAGOHB | ALYREF | Q86V81 | 894 |
| MAGOHB | EIF4A1 | P04765 | 868 |
| MAGOHB | UPF1 | Q92900 | 846 |
| MAGOHB | SRRM1 | Q8IYB3 | 813 |
| MAGOHB | UPF2 | Q9HAU5 | 808 |
| MAGOHB | EIF4A2 | Q14240 | 801 |
| MAGOHB | DDX39B | Q13838 | 771 |
| MAGOHB | NCBP1 | Q09161 | 752 |
IntAct
290 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAGOHB | RBM8A | psi-mi:“MI:0915”(physical association) | 0.890 |
| IKZF3 | MAGOHB | psi-mi:“MI:0915”(physical association) | 0.780 |
| MAGOHB | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MAGOHB | CCDC102B | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGOHB | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CALCOCO2 | MAGOHB | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF398 | MAGOHB | psi-mi:“MI:0915”(physical association) | 0.720 |
| CCDC102B | MAGOHB | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGOHB | CALCOCO2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGOHB | ZNF398 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA2 | MAGOHB | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGOHB | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MAGOHB | HMG20A | psi-mi:“MI:0915”(physical association) | 0.670 |
| MAGOHB | TRIM42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGOHB | ZNF250 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGOHB | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGOHB | RBMX | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (201): MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), ZNF398 (Two-hybrid), ZNF250 (Two-hybrid), CCDC102B (Two-hybrid), KRT40 (Two-hybrid), TRIM42 (Two-hybrid)
ESM2 similar proteins: A0A0P0XB70, A3DGF9, A5VPY5, A6X1N2, A9CJB1, A9MAI1, B0CLD1, B2J6S5, B2S545, B9ENE7, B9JVE7, C0RIE1, F1SVL1, O23676, O28269, O34834, O42149, O43037, O65806, P40207, P41063, P49028, P49029, P49030, P50594, P59327, P61326, P61327, Q0VC92, Q10YT5, Q11JK4, Q163Q2, Q27W02, Q2YNC7, Q39QA9, Q3ZBV3, Q55E21, Q566Y8, Q57DU9, Q5LPR5
Diamond homologs: A0A0P0XB70, B9ENE7, O23676, O42149, O43037, O65806, P49028, P49029, P49030, P50594, P61326, P61327, Q0VC92, Q27W02, Q3ZBV3, Q55E21, Q566Y8, Q96A72, Q9CQL1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 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 |
|---|---|---|---|
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 10.7× | 3e-03 |
| mRNA Splicing - Major Pathway | 6 | 7.1× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
993 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:10607852:A:AC | donor_gain | 1.0000 |
| 12:10607853:C:CC | donor_gain | 1.0000 |
| 12:10609827:AAACC:A | donor_loss | 1.0000 |
| 12:10609828:AAC:A | donor_loss | 1.0000 |
| 12:10609829:A:AC | donor_gain | 1.0000 |
| 12:10609830:C:CC | donor_gain | 1.0000 |
| 12:10609830:C:G | donor_loss | 1.0000 |
| 12:10609937:TAAGC:T | acceptor_gain | 1.0000 |
| 12:10609938:AAGC:A | acceptor_gain | 1.0000 |
| 12:10609939:AGC:A | acceptor_gain | 1.0000 |
| 12:10609940:GCC:G | acceptor_loss | 1.0000 |
| 12:10609942:C:CC | acceptor_gain | 1.0000 |
| 12:10609942:CTA:C | acceptor_loss | 1.0000 |
| 12:10609943:T:A | acceptor_loss | 1.0000 |
| 12:10610617:CTTA:C | donor_loss | 1.0000 |
| 12:10610618:TTA:T | donor_loss | 1.0000 |
| 12:10610619:TA:T | donor_loss | 1.0000 |
| 12:10610620:A:AC | donor_gain | 1.0000 |
| 12:10610620:A:T | donor_loss | 1.0000 |
| 12:10610620:ACCT:A | donor_gain | 1.0000 |
| 12:10610621:C:CA | donor_loss | 1.0000 |
| 12:10610621:C:CC | donor_gain | 1.0000 |
| 12:10610621:CCT:C | donor_gain | 1.0000 |
| 12:10610621:CCTC:C | donor_gain | 1.0000 |
| 12:10610676:CTTTC:C | acceptor_gain | 1.0000 |
| 12:10610677:TTTC:T | acceptor_gain | 1.0000 |
| 12:10610679:TCC:T | acceptor_loss | 1.0000 |
| 12:10610681:C:CC | acceptor_gain | 1.0000 |
| 12:10610690:G:GC | acceptor_gain | 1.0000 |
| 12:10613401:C:A | donor_gain | 1.0000 |
AlphaMissense
986 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:10606282:G:T | P147Q | 1.000 |
| 12:10606283:G:A | P147S | 1.000 |
| 12:10606290:C:A | K144N | 1.000 |
| 12:10606290:C:G | K144N | 1.000 |
| 12:10606293:G:C | F143L | 1.000 |
| 12:10606293:G:T | F143L | 1.000 |
| 12:10606295:A:G | F143L | 1.000 |
| 12:10606309:A:G | L138P | 1.000 |
| 12:10606311:A:C | S137R | 1.000 |
| 12:10606311:A:T | S137R | 1.000 |
| 12:10606313:T:G | S137R | 1.000 |
| 12:10606318:A:T | V135D | 1.000 |
| 12:10606323:A:C | C133W | 1.000 |
| 12:10606325:A:G | C133R | 1.000 |
| 12:10606326:T:A | K132N | 1.000 |
| 12:10606326:T:G | K132N | 1.000 |
| 12:10606327:T:A | K132I | 1.000 |
| 12:10606360:A:G | L121P | 1.000 |
| 12:10606363:C:T | G120D | 1.000 |
| 12:10606364:C:G | G120R | 1.000 |
| 12:10607866:A:T | V112E | 1.000 |
| 12:10607881:C:T | G107D | 1.000 |
| 12:10607882:C:G | G107R | 1.000 |
| 12:10607886:T:A | K105N | 1.000 |
| 12:10607886:T:G | K105N | 1.000 |
| 12:10607887:T:A | K105I | 1.000 |
| 12:10607888:T:C | K105E | 1.000 |
| 12:10607899:A:G | F101S | 1.000 |
| 12:10607930:C:T | E91K | 1.000 |
| 12:10607932:A:G | L90P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000139915 (12:10615058 C>G), RS1000323101 (12:10599727 T>C), RS1000426790 (12:10614576 G>A,T), RS1000609898 (12:10599499 G>A,C), RS1000835038 (12:10610146 C>T), RS1000990070 (12:10610454 G>A,T), RS1001078142 (12:10603531 C>A), RS1001184863 (12:10614828 G>A,C), RS1001467364 (12:10601319 C>G), RS1001493014 (12:10602667 A>T), RS1001659776 (12:10607221 G>A), RS1001700288 (12:10608609 A>AC), RS1002215849 (12:10613643 G>A), RS1002303093 (12:10610038 G>A), RS1002347273 (12:10602371 C>A,T)
Disease associations
OMIM: gene MIM:619552 | 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
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects splicing, decreases expression, increases expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| yessotoxin | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| PP242 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | increases expression | 1 |
| Nickel | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.