MOBP

protein-coding

myelin associated oligodendrocyte basic protein

Gene summary

Predicted to be a structural constituent of myelin sheath. Predicted to be involved in nervous system development. Located in cytoplasmic ribonucleoprotein granule. Implicated in frontotemporal dementia. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001393704.1

Inheritance

—

ClinVar variants

U:10B:5

Top phenotype

MOBP-related disorder

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr3:39,467,198-39,529,479

External References & Databases

Ensembl (ENSG00000168314)

Transcript & Mutation Effects

hg38 • Region Span ~62.3 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 MOBP variants in ClinVar

3 Conditions Cataloged

MOBP-related disorderTotal: 11

not specifiedTotal: 6

Amyotrophic lateral sclerosisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393704.1. 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				4 clinvar		4
missense			9 clinvar	1 clinvar		10
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	10	5	0	15

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393704.1	RefSeq	NP_001380633.1	2	MANE Select
ENST00000684792.1	Ensembl	ENSP00000508923.1	2	MANE Select
NM_001278322.2	RefSeq	NP_001265251.1	3	Standard
NM_001278323.2	RefSeq	NP_001265252.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nervous system development

Molecular Function

actin binding
protein binding
myosin binding
Rab GTPase binding
structural constituent of myelin sheath

Cellular Component

mitochondrion
cortical actin cytoskeleton
myelin sheath
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000383754
Coding exons: 2
Length: 62282
Individuals with no LoFs: 125746
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125747
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.973	26	44.2	0.588	0.00000230	544
Missense (PolyPhen)		12	26.096	0.45984		298
Synonymous	-0.116	18	17.4	1.04	0.00000106	123
Loss of Function	1.42	0	2.36	0.00	9.80e-8	34

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane. {ECO:0000250}.;

Recessive Scores

pRec: 0.129

Intolerance Scores

LoFtool: 0.219
RVIS EVS: 0.04
RVIS percentile EVS: 56.25

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.133

Gene Damage Prediction

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