OMG

protein-coding

oligodendrocyte myelin glycoprotein

Gene summary

Predicted to enable identical protein binding activity. Predicted to be involved in neuron projection regeneration. Predicted to act upstream of or within regulation of collateral sprouting of intact axon in response to injury. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_002544.5

Inheritance

—

ClinVar variants

U:48B:13

Top phenotype

OMG-related disorder

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr17:31,272,013-31,297,539

External References & Databases

Ensembl (ENSG00000126861)

Transcript & Mutation Effects

hg38 • Region Span ~25.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OMG variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 11

OMG-related disorderTotal: 3

Cardiovascular phenotypeTotal: 1

Hereditary cancer-predisposing syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002544.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				9 clinvar		9
missense			48 clinvar	4 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	13	0	61

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002544.5	RefSeq	NP_002535.3	1	MANE Select
ENST00000247271.5	Ensembl	ENSP00000247271.4	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Spinal Cord Injury
Signal Transduction
Death Receptor Signalling
Axonal growth inhibition (RHOA activation)
p75NTR regulates axonogenesis

Biological Process

cell adhesion
neuron projection regeneration
negative regulation of axonogenesis

Cellular Component

plasma membrane
anchored component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000247271
Coding exons: 1
Length: 25527
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125729
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.32	162	217	0.748	0.0000101	2899
Missense (PolyPhen)		62	97.246	0.63756		1327
Synonymous	0.719	75	83.4	0.900	0.00000397	889
Loss of Function	3.07	0	11.0	0.00	5.42e-7	147

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system.;

Recessive Scores

pRec: 0.190

Intolerance Scores

LoFtool: 0.236
RVIS EVS: 0.13
RVIS percentile EVS: 63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.594

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium