MAGOH

Summary

MAGOH (mago homolog, exon junction complex subunit, HGNC:6815) is a protein-coding gene on chromosome 1p32.3, encoding Protein mago nashi homolog (P61326). Required for pre-mRNA splicing as component of the spliceosome. It is a selective cancer dependency (DepMap: 78.1% of cell lines).

Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts.

Source: NCBI Gene 4116 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 18 total
• Cancer dependency (DepMap): dependent in 78.1% of screened cell lines
• MANE Select transcript: NM_002370

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6815
Approved symbol	MAGOH
Name	mago homolog, exon junction complex subunit
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	MAGOHA, MAGOH1
Ensembl gene	ENSG00000162385
Ensembl biotype	protein_coding
OMIM	602603
Entrez	4116

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000371466, ENST00000371470, ENST00000462941, ENST00000495868, ENST00000890248, ENST00000919351, ENST00000919352

RefSeq mRNA: 1 — MANE Select: NM_002370 NM_002370

CCDS: CCDS577

Canonical transcript exons

ENST00000371470 — 5 exons

Exon	Start	End
ENSE00001064645	53226900	53227144
ENSE00001689792	53233542	53233652
ENSE00001853117	53238361	53238518
ENSE00003603109	53235577	53235635
ENSE00003675286	53228872	53228954

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 99.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 99.7783 / max 2481.8971, expressed in 1821 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12400	99.5240	1821
12399	0.2543	101

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.29	gold quality
secondary oocyte	CL:0000655	99.07	gold quality
monocyte	CL:0000576	98.39	gold quality
mononuclear cell	CL:0000842	97.84	gold quality
leukocyte	CL:0000738	97.68	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.93	gold quality
rectum	UBERON:0001052	96.09	gold quality
left lobe of thyroid gland	UBERON:0001120	95.89	gold quality
mucosa of transverse colon	UBERON:0004991	95.89	gold quality
ventricular zone	UBERON:0003053	95.84	gold quality
body of uterus	UBERON:0009853	95.56	gold quality
granulocyte	CL:0000094	95.52	gold quality
left ovary	UBERON:0002119	95.39	gold quality
right ovary	UBERON:0002118	95.32	gold quality
islet of Langerhans	UBERON:0000006	95.30	gold quality
right lobe of thyroid gland	UBERON:0001119	95.17	gold quality
tibial artery	UBERON:0007610	95.12	gold quality
popliteal artery	UBERON:0002250	95.11	gold quality
descending thoracic aorta	UBERON:0002345	95.11	gold quality
omental fat pad	UBERON:0010414	95.11	gold quality
adenohypophysis	UBERON:0002196	95.10	gold quality
left uterine tube	UBERON:0001303	95.09	gold quality
peritoneum	UBERON:0002358	95.09	gold quality
left coronary artery	UBERON:0001626	95.05	gold quality
aorta	UBERON:0000947	94.95	gold quality
thyroid gland	UBERON:0002046	94.90	gold quality
thoracic aorta	UBERON:0001515	94.87	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.87	gold quality
ascending aorta	UBERON:0001496	94.84	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.71	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting MAGOH, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-9900	96.06	65.48	557
HSA-MIR-7976	95.75	65.67	1186

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 78.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• The stable association of multiprotein exon junction complex core with RNA is maintained by inhibition of eIF4AIII ATPase activity by MAGOH-Y14. (PMID:16170325)
• crystal structure of a tetrameric exon junction core complex containing the DEAD-box adenosine triphosphatase eukaryotic initiation factor 4AIII bound to an ATP analog, MAGOH, Y14, a fragment of MLN51, and a polyuracil mRNA mimic (PMID:16931718)
• These results indicate that MAGOH regulates the transcriptional activation of STAT3 by interfering complex formation between STAT3 and Y14. (PMID:19254694)
• 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)
• Results provide evidence that MAGOH binding to the C-terminal region of Y14 disrupts Y14 nucleolar localization. (PMID:29330450)
• These results reveal that the stability of Magoh and Y14 is not only dependent on the heterodimer structure, but also dependent on nuclear localization. (PMID:30826064)
• MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A. (PMID:36497117)
• MAGOH is correlated with poor prognosis and is essential for cell proliferation in lower-grade glioma. (PMID:37390121)
• MAGOH promotes gastric cancer progression via hnRNPA1 expression inhibition-mediated RONDelta160/PI3K/AKT signaling pathway activation. (PMID:38268030)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Magoh	ENSMUSG00000028609
rattus_norvegicus	Magoh	ENSRNOG00000012778
drosophila_melanogaster	mago	FBGN0002736
caenorhabditis_elegans	mag-1	WBGENE00003123

Paralogs (1): MAGOHB (ENSG00000111196)

Protein

Protein identifiers

Protein mago nashi homolog — P61326 (reviewed: P61326)

All UniProt accessions (1): P61326

UniProt curated annotations — full annotation on UniProt →

Function. Required for pre-mRNA splicing as component of the spliceosome. Plays a redundant role with MAGOHB as core component of the exon junction complex (EJC) and in the nonsense-mediated decay (NMD) pathway. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S pre-initiation complex. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly.

Subunit / interactions. 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. Component of the ALYREF/THOC4-EJC-RNA complex; in the complex interacts with EIF4A3, RBM8A and THOC4 (via the RRM domain); these interactions are likely specific to RNA-bound EJC. Interacts with PYM1; the interaction is direct and dissociates the EJC from spliced mRNAs. Identified in a complex composed of the EJC core, UPF3B and UPF2. The EJC core can also interact with UPF3A (in vitro). Identified in the spliceosome C complex.

Subcellular location. Nucleus. Nucleus speckle. Cytoplasm.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the mago nashi family.

Isoforms (2)

UniProt ID	Names	Canonical?
P61326-1	1	yes
P61326-2	2

RefSeq proteins (1): NP_002361* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004023	Mago_nashi	Family
IPR036605	Mago_nashi_sf	Homologous_superfamily

Pfam: PF02792

UniProt features (27 total): mutagenesis site 11, strand 8, helix 4, chain 1, modified residue 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

14 structures.

PDB	Method	Resolution (Å)
1P27	X-RAY DIFFRACTION	2
2J0S	X-RAY DIFFRACTION	2.21
2HYI	X-RAY DIFFRACTION	2.3
3EX7	X-RAY DIFFRACTION	2.3
7ZNJ	ELECTRON MICROSCOPY	2.4
8C6J	ELECTRON MICROSCOPY	2.8
2J0Q	X-RAY DIFFRACTION	3.2
9FMD	ELECTRON MICROSCOPY	3.3
2XB2	X-RAY DIFFRACTION	3.4
8I0W	ELECTRON MICROSCOPY	3.4
7W59	ELECTRON MICROSCOPY	3.6
7W5A	ELECTRON MICROSCOPY	3.6
7W5B	ELECTRON MICROSCOPY	4.3
7A5P	ELECTRON MICROSCOPY	5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61326-F1	93.86	0.85

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): 1

Mutagenesis-validated functional residues (11):

Position	Phenotype
85–87	fully active.
117	abolishes interaction with pym1 leading to increase ejc association with spliced mrnas; when associated with r-68; r-72
130–134	complete loss of nonsense-mediated decay activity.
136	complete loss of nonsense-mediated decay activity.
16–17	impaired nonsense-mediated decay activity.
41–42	complete loss of nonsense-mediated decay activity.
66–68	slightly reduced nonsense-mediated decay activity.
68	abolishes interaction with pym1 leading to increase ejc association with spliced mrnas; when associated with r-72; k-73
72–73	fully active.
72	abolishes interaction with pym1 leading to increase ejc association with spliced mrnas; when associated with r-68; k-73
73	abolishes interaction with pym1 leading to increase ejc association with spliced mrnas; when associated with r-68; r-72

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: 183 (showing top): GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, MORF_UBE2N, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, GOBP_NUCLEAR_TRANSPORT, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GNF2_XRCC5

GO Biological Process (10): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splicing, via spliceosome (GO:0000398), mRNA export from nucleus (GO:0006406), regulation of translation (GO:0006417), 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 (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear speck (GO:0016607), exon-exon junction complex (GO:0035145), catalytic step 2 spliceosome (GO:0071013), exon-exon junction subcomplex mago-y14 (GO:1990501), spliceosomal complex (GO:0005681), cytoplasm (GO:0005737)

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
cellular anatomical structure	3
mRNA processing	2
RNA processing	2
nuclear protein-containing complex	2
nuclear-transcribed mRNA catabolic process	1
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
RNA export from nucleus	1
gene expression	1
mRNA transport	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	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
nuclear ribonucleoprotein granule	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
intracellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

230 interactions, top by confidence:

A	B	Type	Score
CASC3	EIF4A3	psi-mi:“MI:0915”(physical association)	0.980
MAGOH	RBM8A	psi-mi:“MI:0915”(physical association)	0.980
RBM8A	MAGOH	psi-mi:“MI:0407”(direct interaction)	0.980
RBM8A	MAGOH	psi-mi:“MI:0915”(physical association)	0.980
MAGOH	RBM8A	psi-mi:“MI:0407”(direct interaction)	0.980
CASC3	EIF4A3	psi-mi:“MI:0914”(association)	0.980
EIF4A3	CASC3	psi-mi:“MI:0914”(association)	0.980
MAGOH	RBM8A	psi-mi:“MI:2364”(proximity)	0.980

BioGRID (337): MAGOH (Two-hybrid), TADA2A (Two-hybrid), RBM8A (Two-hybrid), MAGOH (Affinity Capture-Western), MAGOH (Affinity Capture-Western), MAGOH (Affinity Capture-Western), MAGOH (Affinity Capture-MS), MAGOH (Affinity Capture-MS), MAGOH (Affinity Capture-MS), MAGOH (Affinity Capture-MS), MAGOH (Affinity Capture-MS), MAGOH (Affinity Capture-MS), MAGOH (Affinity Capture-MS), UBB (Affinity Capture-MS), SCRN3 (Affinity Capture-MS)

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

1 interactions.

A	Effect	B	Mechanism
MAGOH	“form complex”	“Exon junction complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 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
mRNA 3’-end processing	15	42.2×	1e-18
Transport of Mature Transcript to Cytoplasm	6	32.6×	7e-07
Transport of Mature mRNA derived from an Intron-Containing Transcript	14	30.4×	1e-15
RNA Polymerase II Transcription Termination	8	25.1×	3e-08
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	12	16.7×	3e-10
Nonsense-Mediated Decay (NMD)	5	16.6×	2e-04
Processing of Capped Intron-Containing Pre-mRNA	14	16.4×	7e-12
mRNA Splicing	10	15.7×	3e-08

GO biological processes:

GO term	Partners	Fold	FDR
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	10	59.2×	2e-13
mRNA export from nucleus	14	52.4×	2e-18
spliceosomal complex assembly	5	38.1×	2e-05
mRNA splicing, via spliceosome	15	17.4×	1e-12
positive regulation of translation	6	17.3×	7e-05
RNA splicing	15	16.8×	1e-12
mRNA transport	5	16.7×	5e-04
mRNA processing	9	9.0×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

18 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

527 predictions. Top by Δscore:

Variant	Effect	Δscore
1:53227143:CC:C	acceptor_gain	1.0000
1:53227144:CC:C	acceptor_gain	1.0000
1:53228868:TTA:T	donor_loss	1.0000
1:53228869:T:TG	donor_loss	1.0000
1:53228870:A:AC	donor_gain	1.0000
1:53228871:C:CG	donor_gain	1.0000
1:53228951:GCTCC:G	acceptor_loss	1.0000
1:53228952:CTC:C	acceptor_gain	1.0000
1:53228954:CCTAG:C	acceptor_loss	1.0000
1:53228955:C:T	acceptor_loss	1.0000
1:53228956:T:G	acceptor_loss	1.0000
1:53228962:CATTT:C	acceptor_gain	1.0000
1:53228966:T:C	acceptor_gain	1.0000
1:53233544:G:A	donor_gain	1.0000
1:53238377:AAACT:A	donor_gain	1.0000
1:53238478:T:TA	donor_gain	1.0000
1:53227142:TCC:T	acceptor_gain	0.9900
1:53227143:CCC:C	acceptor_gain	0.9900
1:53227144:CCTAA:C	acceptor_loss	0.9900
1:53227145:C:CC	acceptor_gain	0.9900
1:53228865:CACT:C	donor_loss	0.9900
1:53228866:ACTT:A	donor_loss	0.9900
1:53228871:CT:C	donor_gain	0.9900
1:53228871:CTT:C	donor_gain	0.9900
1:53228871:CTTG:C	donor_gain	0.9900
1:53228871:CTTGG:C	donor_gain	0.9900
1:53228953:TC:T	acceptor_gain	0.9900
1:53228954:CC:C	acceptor_gain	0.9900
1:53228955:C:CC	acceptor_gain	0.9900
1:53228966:T:TC	acceptor_gain	0.9900

AlphaMissense

973 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:53227052:G:T	P145Q	1.000
1:53227053:G:A	P145S	1.000
1:53227060:C:A	K142N	1.000
1:53227060:C:G	K142N	1.000
1:53227063:G:C	F141L	1.000
1:53227063:G:T	F141L	1.000
1:53227065:A:G	F141L	1.000
1:53227079:A:G	L136P	1.000
1:53227081:A:C	S135R	1.000
1:53227081:A:T	S135R	1.000
1:53227082:C:A	S135I	1.000
1:53227083:T:G	S135R	1.000
1:53227088:A:T	V133D	1.000
1:53227093:A:C	C131W	1.000
1:53227095:A:G	C131R	1.000
1:53227096:C:A	K130N	1.000
1:53227096:C:G	K130N	1.000
1:53227100:A:G	L129P	1.000
1:53227104:C:G	D128H	1.000
1:53227112:A:G	L125P	1.000
1:53227134:C:G	G118R	1.000
1:53228884:A:T	V110D	1.000
1:53228899:C:T	G105D	1.000
1:53228900:C:G	G105R	1.000
1:53228904:T:A	K103N	1.000
1:53228904:T:G	K103N	1.000
1:53228905:T:A	K103I	1.000
1:53228906:T:C	K103E	1.000
1:53228917:A:G	F99S	1.000
1:53228948:C:T	E89K	1.000

dbSNP variants (sampled 300 via entrez): RS1000066533 (1:53239992 G>A,C,T), RS1000075645 (1:53238766 G>C,T), RS1000095689 (1:53231910 A>G), RS1000160133 (1:53233294 A>G), RS1000195078 (1:53238573 G>A,C,T), RS1000201850 (1:53228264 T>C), RS1000254317 (1:53228059 A>C,G), RS1000467881 (1:53232219 A>T), RS1000526276 (1:53237306 C>T), RS1001059551 (1:53228218 T>G), RS1001245761 (1:53233080 G>A), RS1001250632 (1:53226747 G>A), RS1001530046 (1:53232800 C>T), RS1001657486 (1:53230975 T>G), RS1001740543 (1:53230657 G>A)

Disease associations

OMIM: gene MIM:602603 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST010696_8	Cortical thickness (min-P)	3.000000e-08
GCST010697_47	Cortical surface area (min-P)	7.000000e-14
GCST010698_52	Subcortical volume (min-P)	2.000000e-10
GCST010699_95	Brain morphology (min-P)	3.000000e-12
GCST010700_60	Cortical thickness (MOSTest)	1.000000e-09
GCST010701_101	Cortical surface area (MOSTest)	2.000000e-12
GCST010702_171	Subcortical volume (MOSTest)	3.000000e-16
GCST010703_172	Brain morphology (MOSTest)	4.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Tretinoin	decreases expression	2
Valproic Acid	affects expression, increases expression	2
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	increases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cupric oxide	increases expression	1
yessotoxin	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
bisphenol S	increases expression	1
PP242	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Copper	decreases expression, affects binding	1
Disulfiram	affects binding, decreases expression	1
Estradiol	increases reaction, affects binding	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Piroxicam	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.