MOG

Summary

MOG (myelin oligodendrocyte glycoprotein, HGNC:7197) is a protein-coding gene on chromosome 6p22.1, encoding Myelin-oligodendrocyte glycoprotein (Q16653). Mediates homophilic cell-cell adhesion.

The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 4340 — RefSeq curated summary.

At a glance

• Gene–disease (curated): narcolepsy 7 (Limited, GenCC)
• GWAS associations: 20
• Clinical variants (ClinVar): 48 total — 1 pathogenic
• Phenotypes (HPO): 34
• MANE Select transcript: NM_206809

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7197
Approved symbol	MOG
Name	myelin oligodendrocyte glycoprotein
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	BTN6, BTNL11
Ensembl gene	ENSG00000204655
Ensembl biotype	protein_coding
OMIM	159465
Entrez	4340

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 14 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000376888, ENST00000376889, ENST00000376891, ENST00000376894, ENST00000376898, ENST00000376903, ENST00000376917, ENST00000396701, ENST00000396704, ENST00000416766, ENST00000431798, ENST00000469353, ENST00000469603, ENST00000476244, ENST00000483013, ENST00000485211, ENST00000485885, ENST00000490427, ENST00000494692, ENST00000963920, ENST00000963921

RefSeq mRNA: 10 — MANE Select: NM_206809 NM_001008228, NM_001008229, NM_001170418, NM_001363610, NM_002433, NM_206809, NM_206810, NM_206811, NM_206812, NM_206814

CCDS: CCDS34366, CCDS34367, CCDS34368, CCDS34369, CCDS34370, CCDS4667, CCDS47394, CCDS47395, CCDS54977, CCDS87379

Canonical transcript exons

ENST00000376917 — 8 exons

Exon	Start	End
ENSE00001920222	29657092	29657297
ENSE00003465281	29667643	29667663
ENSE00003497220	29670281	29670397
ENSE00003540488	29659319	29659666
ENSE00003582567	29667904	29667924
ENSE00003617744	29666152	29666265
ENSE00003685798	29670701	29670721
ENSE00003845678	29671172	29672365

Expression profiles

Bgee: expression breadth ubiquitous, 109 present calls, max score 99.59.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 12.9972 / max 1628.2246, expressed in 105 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66658	4.8608	91
66659	3.2034	87
66656	2.2039	86
66654	1.7206	89
66657	0.6040	71
66655	0.4046	74

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	99.59	gold quality
substantia nigra	UBERON:0002038	98.47	gold quality
Ammon’s horn	UBERON:0001954	98.38	gold quality
putamen	UBERON:0001874	98.24	gold quality
primary visual cortex	UBERON:0002436	98.19	gold quality
temporal lobe	UBERON:0001871	97.44	gold quality
amygdala	UBERON:0001876	97.43	gold quality
caudate nucleus	UBERON:0001873	97.31	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.81	gold quality
corpus callosum	UBERON:0002336	95.56	gold quality
hypothalamus	UBERON:0001898	95.45	gold quality
nucleus accumbens	UBERON:0001882	95.01	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.77	gold quality
right frontal lobe	UBERON:0002810	94.76	gold quality
superior frontal gyrus	UBERON:0002661	94.54	gold quality
cerebral cortex	UBERON:0000956	92.41	gold quality
anterior cingulate cortex	UBERON:0009835	92.16	gold quality
frontal cortex	UBERON:0001870	90.72	gold quality
brain	UBERON:0000955	88.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.27	gold quality
prefrontal cortex	UBERON:0000451	87.21	gold quality
cerebellum	UBERON:0002037	85.74	gold quality
cerebellar cortex	UBERON:0002129	85.69	gold quality
cerebellar hemisphere	UBERON:0002245	85.69	gold quality
apex of heart	UBERON:0002098	77.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.53	silver quality
heart left ventricle	UBERON:0002084	69.65	gold quality
right atrium auricular region	UBERON:0006631	67.76	gold quality
heart	UBERON:0000948	66.19	gold quality
popliteal artery	UBERON:0002250	50.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	54.16
E-MTAB-7303	no	3.16
E-ANND-3	no	0.66

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HOXD1, PPARD

miRNA regulators (miRDB)

44 targeting MOG, 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-3925-3P	100.00	69.95	1237
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-5697	99.39	67.74	1249
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-376B-5P	98.46	66.40	606
HSA-MIR-376C-5P	98.46	66.64	589
HSA-MIR-6780A-3P	98.42	67.49	1518

Literature-anchored findings (GeneRIF, showing 40)

• identification of T cell epitopes that are encephalitogenic and presented by B cells (PMID:11739534)
• The B cell and T cell epitopes have been identified in rat MOG-immunized marmosets, and these sequences are observed to map primarily onto accessible regions in the model, which may explain their ability to generate potent antibody responses. (PMID:11895369)
• A T cell reactivity pattern analysis of multiple sclerosis patients at the onset of relapse or progression shows that there is a highly immunogenic epitope for CD4+ T cells within the transmembrane/intracellular part of MOG comprising amino acids 146-154. (PMID:12077287)
• MOG-specific antibody is critical to the initiation of MOG-induced murine experimental autoimmune encephalomyelitis (PMID:12115610)
• polymorphisms do not provide evidence to support a significant role for MOG in multiple sclerosis susceptibility. (PMID:12149493)
• a substantial proportion of MOG-reactive T cells from some subjects have been activated in vivo without resulting in clinical disease (PMID:12482392)
• Human MOG is immunogenic and induces experimental autoimmune encephalomyelitis in C57BL/6 mice via an encephalitogenic B cell response to epitopes on human MOG protein that most likely cross-react with mouse determinants. (PMID:12817031)
• Demonstration of molecular mimicry between MOG and butyrophilin suggests that exposure to this common dietary antigen may influence the composition and function of the MOG-specific autoimmune repertoire during the course of multiple sclerosis. (PMID:14688379)
• No significant evidence for biased transmission of alleles at the (CA)n (chi2=2.430, 6 df, P=0.876) (TAAA)n (chi2=3.550, 5 df, P=0.616), C1334T (chi2=0.040, 1 df, P=0.841) and C10991T (chi2=0.154,polymorphisms in patients with schizophrenia was seen. (PMID:15660663)
• both the spectrum of MBP found, as well as the MOGIgd epitopes recognized by peripheral blood T cells in multiple sclerosis, appear to be similar for childhood/juvenile-onset and adult-onset patients (PMID:16900754)
• In human brain the splice variants of MOG appear at a late stage compared to the major isoform, coincidental with myelination and myelin maturation, unlike other myelin proteins. (PMID:16903876)
• pathogenic antibody response to native MOG in a subgroup of multiple sclerosis patients (PMID:17142321)
• This study represents the first evidence of alternative translation products from the MOG gene. To date, it is believed that alternative splicing of MOG is limited to primates. (PMID:17402967)
• results indicate that variation within the MOG gene is not an important independent determinant of multiple sclerosis -inherited risk in the Sardinian population (PMID:17509152)
• MOG may be a target of Hoxd1 (PMID:17554625)
• Our findings highlight myelin oligodendrocyte glycoprotein splicing as a factor that could be critical to the phenotypic expression of multiple sclerosis. (PMID:17573820)
• The associations observed in Japanese and French patients, the linkage studies and the present work speak in favor of the existence of a susceptibility gene for autism in the NF1 locus. (PMID:17897745)
• A sequence variation in the MOG gene is involved in multiple sclerosis susceptibility in Italy. (PMID:17928868)
• although individuals with anti-myelin oligodendrocyte glycoprotein (MOG) antibodies have an increased risk of developing multiple sclerosis, this association may at least in part reflect cross-reactivity between MOG and Epstein-Barr nuclear antigen (PMID:18753473)
• This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• genetic polymorphism is associated with autism in Sardinian children (PMID:19167444)
• B cell autoimmunity to this MOG is therefore most common in patients with a very early onset of MS (PMID:19687098)
• Our study provides first evidence that the MOG G511C (Val142Leu) polymorphism might be associated with structural changes in the total white matter volumes of OCD patients. (PMID:20452030)
• This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
• Conformational structure of the MOG-derived peptide 101-108 in solution. (PMID:20549678)
• cell surface-expressed native myelin oligodendrocyte glycoprotein nor linear epitopes have a predictive or discriminative role during the preclinical disease phase for developing clinically isolated syndrome or multiple sclerosis later in life (PMID:20685767)
• The results of this study have observed that changes in splicing, but not expression levels, are associated with common genetic variation in the MOG gene (PMID:20800907)
• Persistence of MOG antibodies despite viral clearance in a high percentage of HIV-1 associated neurocognitive disorder (HAND) patients suggests ongoing neuroinflammation, possibly preventing recovery from HAND. (PMID:21083890)
• Report provides evidence that the humoral immune response against MOG in children is specific for demyelinating inflammatory CNS disorders. (PMID:21177754)
• A mutated MOG peptide [MOG97-109] enables detection of MOG97-109-reactive T cells in multiple sclerosis patients bearing the HLA-DRB1*0401 allele. (PMID:21653833)
• The persistence or disappearance of antibodies to MOG may have prognostic relevance for acute childhood demyelination (PMID:21795651)
• The authors found that the human myelin oligodendrocyte glycoprotein (MOG) specifically bound to the E1 envelope glycoprotein of rubella virus, and an antibody against MOG could block rubella virus infection. (PMID:21880773)
• A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. (PMID:21907016)
• This study provides valuable information about requirements of anti-myelin oligodendrocyte glycoprotein reactivity for being regarded as a prognostic biomarker in a subtype of MS. (PMID:22093619)
• We could show for the first time that a subset of aquaporin 4-IgG seronegative patients with neuromyelitis optica exhibit a MOG-IgG mediated immune response (PMID:22204662)
• findings suggest that immune reactions toward MOG and in particular MOG-specific antibodies may play a functional role in multiple sclerosis (PMID:22494461)
• Bipolar I disorder and schizophrenia share a number of common genetic risk loci and susceptibility genes including the genes coding for myelin oligodendrocytes glycoprotein (MOG). (PMID:23032943)
• Patients with neuromyelitis optica spectrum disorders with MOG antibodies have distinct clinical features, fewer attacks, and better recovery than patients with AQP4 antibodies or patients seronegative for both antibodies. (PMID:24415568)
• These data demonstrate a new role for myelin glycosylation in the control of immune homeostasis in the healthy human brain through the MOG-DC-SIGN homeostatic regulatory axis, which is comprised by inflammatory insults that affect glycosylation. (PMID:24935259)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mog	ENSMUSG00000076439
rattus_norvegicus		ENSRNOG00000078049

Paralogs (15): BTN3A1 (ENSG00000026950), CD276 (ENSG00000103855), BTN3A3 (ENSG00000111801), BTN2A1 (ENSG00000112763), BTNL8 (ENSG00000113303), HHLA2 (ENSG00000114455), BTN2A2 (ENSG00000124508), BTN1A1 (ENSG00000124557), VTCN1 (ENSG00000134258), ICOSLG (ENSG00000160223), ERMAP (ENSG00000164010), BTNL9 (ENSG00000165810), BTNL3 (ENSG00000168903), BTN3A2 (ENSG00000186470), BTNL2 (ENSG00000204290)

Protein

Protein identifiers

Myelin-oligodendrocyte glycoprotein — Q16653 (reviewed: Q16653)

All UniProt accessions (5): C9JTE0, E9PG44, Q16653, H0Y8A0, H7BYC0

UniProt curated annotations — full annotation on UniProt →

Function. Mediates homophilic cell-cell adhesion. Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication. (Microbial infection) Acts as a receptor for rubella virus.

Subunit / interactions. Homodimer. May form heterodimers between the different isoforms. (Microbial infection) Interacts with rubella virus E2 glycoprotein.

Subcellular location. Cell membrane Cell membrane Cell membrane Cell membrane Cell membrane Cell membrane Cell membrane Cell membrane Cell membrane.

Tissue specificity. Found exclusively in the CNS, where it is localized on the surface of myelin and oligodendrocyte cytoplasmic membranes.

Disease relevance. Narcolepsy 7 (NRCLP7) [MIM:614250] Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Not functionally active. May be expressed at low level in the adult. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the immunoglobulin superfamily. BTN/MOG family.

Isoforms (13)

UniProt ID	Names	Canonical?
Q16653-1	1, Alpha-1	yes
Q16653-2	2, Alpha-2
Q16653-3	3, Alpha-3
Q16653-4	4, Alpha-4
Q16653-5	5, Beta-1
Q16653-6	6, Beta-2
Q16653-7	7, Beta-3
Q16653-8	8, Beta-4
Q16653-9	9
Q16653-10	10
Q16653-11	11
Q16653-12	12
Q16653-13	13, X1

RefSeq proteins (10): NP_001008229, NP_001008230, NP_001163889, NP_001350539, NP_002424, NP_996532, NP_996533, NP_996534, NP_996535, NP_996537 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR016663	Myelin-oligodendrocyte_glycop	Family
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050504	IgSF_BTN/MOG-like	Family

Pfam: PF07686

UniProt features (24 total): splice variant 11, topological domain 3, sequence variant 3, transmembrane region 2, signal peptide 1, chain 1, domain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16653-F1	84.60	0.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 53–127

Glycosylation sites (1): 60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 143 (showing top): ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOCC_CELL_SURFACE, CAGCTG_AP4_Q5, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_CYTOKINE_PRODUCTION, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_HOST, GOBP_VIRAL_LIFE_CYCLE, GOBP_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOMF_SIGNALING_RECEPTOR_BINDING, LEIN_OLIGODENDROCYTE_MARKERS, GOCC_SIDE_OF_MEMBRANE, GOBP_ACTIVATION_OF_IMMUNE_RESPONSE, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_UP

GO Biological Process (5): regulation of cytokine production (GO:0001817), cell adhesion (GO:0007155), central nervous system development (GO:0007417), T cell receptor signaling pathway (GO:0050852), symbiont entry into host cell (GO:0046718)

GO Molecular Function (3): virus receptor activity (GO:0001618), signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytokine production	1
regulation of gene expression	1
regulation of multicellular organismal process	1
cellular process	1
nervous system development	1
system development	1
antigen receptor-mediated signaling pathway	1
viral life cycle	1
symbiont entry into host	1
symbiont entry into host cell	1
exogenous protein binding	1
protein binding	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MOG	MBP	P02686	948
MOG	PLP1	P04400	877
MOG	MAG	P20916	867
MOG	IL17A	Q16552	850
MOG	IFNG	P01579	823
MOG	CNP	P09543	818
MOG	CD4	P01730	789
MOG	IL10	P22301	772
MOG	RTN4R	Q9BZR6	767
MOG	IL4	P05112	735
MOG	CD209	Q9NNX6	724
MOG	OLIG1	Q8TAK6	724
MOG	FOXP3	Q9BZS1	718
MOG	CNTN2	P78432	712
MOG	CD8A	P01732	669

IntAct

17 interactions, top by confidence:

A	B	Type	Score
MOG	KBTBD8	psi-mi:“MI:0915”(physical association)	0.400
MOG	FCGR2A	psi-mi:“MI:0915”(physical association)	0.400
FCGR1A	MOG	psi-mi:“MI:0915”(physical association)	0.400
MOG	LILRB2	psi-mi:“MI:0915”(physical association)	0.400
LILRA1	MOG	psi-mi:“MI:0915”(physical association)	0.400
MOG	LILRA2	psi-mi:“MI:0915”(physical association)	0.400
MOG	LILRA6	psi-mi:“MI:0915”(physical association)	0.400
MOG	LILRB3	psi-mi:“MI:0915”(physical association)	0.400
MOG	LILRB5	psi-mi:“MI:0915”(physical association)	0.400
MOG	LRRC4C	psi-mi:“MI:0915”(physical association)	0.400
MOG	SIGLEC6	psi-mi:“MI:0915”(physical association)	0.400
TIE1	MOG	psi-mi:“MI:0915”(physical association)	0.400
MOG	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
MOG	TSHR	psi-mi:“MI:0915”(physical association)	0.370
OTUD4	KRT36	psi-mi:“MI:0914”(association)	0.350
MOG	SCAMP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (21): LOC100507537 (Two-hybrid), MOG (Two-hybrid), MOG (Two-hybrid), MOG (Affinity Capture-MS), KBTBD8 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), SAAL1 (Affinity Capture-MS), REEP6 (Affinity Capture-MS), ATP5I (Affinity Capture-MS), GOPC (Affinity Capture-MS), MMP15 (Affinity Capture-MS), TSPAN15 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), C4orf32 (Affinity Capture-MS)

ESM2 similar proteins: A0A0E4BZH1, A4QPC6, A5D7V5, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XV04, A7XV07, A8K4G0, A8MVZ5, O70355, P08508, P18892, P24071, P31994, P55803, P78410, P79391, Q13410, Q16653, Q29ZQ1, Q3KPI0, Q58DF9, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6Q8B3, Q6UXZ3, Q6XJV4, Q6XJV6, Q7KYR7, Q7TST0, Q7YR73, Q8BTP3, Q8K249, Q8TD46

Diamond homologs: A0A0E4BZH1, A4QPC6, A7TZE6, A7TZF0, A7TZF3, A7TZG1, A7TZG3, A7XUX6, A7XUY5, A7XUZ6, A7XV04, A7XV07, A7XV14, A8MVZ5, O00478, O00481, O70355, P18892, P55803, P78410, Q13410, Q16653, Q29ZQ1, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6MG97, Q6UX41, Q6UXE8, Q6UXG8, Q7KYR7, Q7TST0, Q8BJE2, Q8WVV5, Q96KV6, Q96PL5, Q9BGS7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MOG	up-regulates	Myelination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	8	53.6×	1e-11
Adaptive Immune System	8	18.4×	3e-08

GO biological processes:

GO term	Partners	Fold	FDR
immune response-regulating signaling pathway	6	160.8×	1e-10
cell surface receptor signaling pathway	8	30.1×	4e-09
adaptive immune response	5	24.8×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	30
Likely benign	4
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
29798	NM_206809.4(MOG):c.398C>G (p.Ser133Cys)	Pathogenic

SpliceAI

1642 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29657295:CAGGT:C	donor_loss	1.0000
6:29667925:G:GA	donor_loss	1.0000
6:29670695:TTTCA:T	acceptor_loss	1.0000
6:29670697:TCAG:T	acceptor_loss	1.0000
6:29670699:AGGG:A	acceptor_loss	1.0000
6:29670700:G:T	acceptor_loss	1.0000
6:29670722:G:GG	donor_gain	1.0000
6:29657294:GCAG:G	donor_gain	0.9900
6:29657298:G:GG	donor_gain	0.9900
6:29659318:GGGCA:G	acceptor_gain	0.9900
6:29659665:AGGTG:A	donor_loss	0.9900
6:29659668:T:A	donor_loss	0.9900
6:29665875:GAT:G	donor_gain	0.9900
6:29665878:G:GG	donor_gain	0.9900
6:29667637:TTTTA:T	acceptor_loss	0.9900
6:29667638:TTTA:T	acceptor_loss	0.9900
6:29667639:TTA:T	acceptor_loss	0.9900
6:29667640:TA:T	acceptor_loss	0.9900
6:29667642:G:GA	acceptor_loss	0.9900
6:29667665:T:A	donor_loss	0.9900
6:29667898:TTTCA:T	acceptor_loss	0.9900
6:29667899:TTCA:T	acceptor_loss	0.9900
6:29667900:TCA:T	acceptor_loss	0.9900
6:29667902:A:AG	acceptor_gain	0.9900
6:29667902:AGAGA:A	acceptor_loss	0.9900
6:29667903:G:GA	acceptor_gain	0.9900
6:29667903:GA:G	acceptor_gain	0.9900
6:29667925:G:GG	donor_gain	0.9900
6:29670699:A:AG	acceptor_gain	0.9900
6:29670699:AG:A	acceptor_gain	0.9900

AlphaMissense

1578 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29659432:T:A	W68R	0.998
6:29659432:T:C	W68R	0.998
6:29659611:C:G	C127W	0.998
6:29659434:G:C	W68C	0.997
6:29659434:G:T	W68C	0.997
6:29659609:T:C	C127R	0.997
6:29659460:T:A	V77D	0.996
6:29659609:T:A	C127S	0.996
6:29659610:G:A	C127Y	0.996
6:29659610:G:C	C127S	0.996
6:29659382:T:C	L51S	0.995
6:29659655:T:C	L142S	0.994
6:29659387:T:C	C53R	0.993
6:29659389:T:G	C53W	0.993
6:29659520:G:C	R97P	0.993
6:29659565:T:C	L112P	0.993
6:29659610:G:T	C127F	0.993
6:29670343:G:A	G219R	0.993
6:29670343:G:C	G219R	0.993
6:29659388:G:A	C53Y	0.992
6:29659565:T:A	L112H	0.992
6:29659571:T:C	I114T	0.991
6:29659619:G:C	R130P	0.991
6:29659642:G:C	A138P	0.991
6:29659324:T:C	F32L	0.990
6:29659326:C:A	F32L	0.990
6:29659326:C:G	F32L	0.990
6:29659433:G:C	W68S	0.990
6:29659462:C:G	H78D	0.989
6:29659466:T:C	L79P	0.989

dbSNP variants (sampled 300 via entrez): RS1000236309 (6:29658725 C>A), RS1000261750 (6:29667448 T>G), RS1000568723 (6:29656712 A>G), RS1000601334 (6:29657120 G>A), RS1000665788 (6:29664494 A>G), RS1000999404 (6:29661672 T>C,G), RS1001237514 (6:29660083 G>A), RS1001354065 (6:29667597 G>A,C), RS1001805033 (6:29667861 T>C), RS1002660954 (6:29672047 G>C), RS1002796456 (6:29658061 C>T), RS1003165020 (6:29665191 G>A), RS1003337795 (6:29666413 T>C), RS1003452694 (6:29666619 A>G), RS1003462409 (6:29662210 G>A)

Disease associations

OMIM: gene MIM:159465 | disease phenotypes: MIM:614250

GenCC curated gene-disease

Disease	Classification	Inheritance
narcolepsy 7	Limited	Unknown

Mondo (1): narcolepsy 7 (MONDO:0013652)

Orphanet (1): Narcolepsy type 1 (Orphanet:2073)

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000017	Nocturia
HP:0000709	Psychosis
HP:0000711	Restlessness
HP:0000716	Depression
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000822	Hypertension
HP:0000826	Precocious puberty
HP:0000975	Hyperhidrosis
HP:0001262	Excessive daytime somnolence
HP:0001279	Syncope
HP:0001350	Slurred speech
HP:0001513	Obesity
HP:0002019	Constipation
HP:0002076	Migraine
HP:0002307	Drooling
HP:0002360	Sleep disturbance
HP:0002494	Abnormal rapid eye movement sleep
HP:0002519	Hypnagogic hallucination
HP:0002524	Cataplexy
HP:0002870	Obstructive sleep apnea
HP:0005978	Type II diabetes mellitus
HP:0006896	Hypnopompic hallucination
HP:0007018	Attention deficit hyperactivity disorder
HP:0007686	Abnormal pupillary function
HP:0010534	Transient global amnesia
HP:0010535	Sleep apnea
HP:0011462	Young adult onset
HP:0012452	Restless legs

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001438_6	Crohn’s disease	2.000000e-10
GCST001784_20	Pulmonary function (smoking interaction)	4.000000e-07
GCST003383_1	Platelet count	1.000000e-09
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_247	Autism spectrum disorder or schizophrenia	4.000000e-09
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_44	Autism spectrum disorder or schizophrenia	2.000000e-17
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_79	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST004521_80	Autism spectrum disorder or schizophrenia	1.000000e-15
GCST004744_50	Lung adenocarcinoma	9.000000e-07
GCST004748_97	Lung cancer	7.000000e-19
GCST004749_82	Lung cancer in ever smokers	2.000000e-13
GCST010083_218	Hemoglobin levels	1.000000e-44
GCST012226_459	Waist circumference adjusted for body mass index	3.000000e-08
GCST90020028_882	Hip circumference adjusted for BMI	4.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0004309	platelet count
EFO:0004509	hemoglobin measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases mutagenesis	3
bisphenol F	increases methylation	1
bisphenol A	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects methylation	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Methotrexate	decreases expression	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Vitamin E	decreases expression	1
Aflatoxin B1	decreases methylation	1
Zinc Sulfate	decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_DG55	CHO-MOG	Spontaneously immortalized cell line	Female
CVCL_LC63	LTK-MOG	Transformed cell line	Male

Clinical trials (associated diseases)

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