MBP

myelin basic protein

Basic information

Region (hg38): 18:76978827-77133683

Links

ENSG00000197971

∙ NCBI:4155 ∙ OMIM:159430 ∙ HGNC:6925 ∙ Uniprot:P02686 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MBP gene.

not_specified (27 variants)
not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001025101.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	2 clinvar	7
missense			27 clinvar		1 clinvar	28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	5	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBP	protein_coding	protein_coding	ENST00000397860	3	154857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.284	0.696	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.603	109	128	0.850	0.00000803	1298
Missense in Polyphen		51	62.763	0.81259		624
Synonymous	-0.00881	55	54.9	1.00	0.00000385	393
Loss of Function	1.96	2	7.98	0.251	5.23e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000353	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non- classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T- cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation. {ECO:0000269|PubMed:8544862}.;
Disease: DISEASE: Note=The reduction in the surface charge of citrullinated and/or methylated MBP could result in a weakened attachment to the myelin membrane. This mechanism could be operative in demyelinating diseases such as chronical multiple sclerosis (MS), and fulminating MS (Marburg disease).;
Pathway: Neural Crest Differentiation;Glial Cell Differentiation;Spinal Cord Injury;Structural Pathway of Interleukin 1 (IL-1);MECP2 and Associated Rett Syndrome;MAPK Cascade (Consensus)

Intolerance Scores

loftool: 0.0431
rvis_EVS: 0.2
rvis_percentile_EVS: 67.19

Haploinsufficiency Scores

pHI: 0.146
hipred: Y
hipred_score: 0.671
ghis: 0.408

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.750

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mbp
Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; immune system phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process: MAPK cascade;immune response;chemical synaptic transmission;central nervous system development;sensory perception of sound;axon ensheathment;response to toxic substance;substantia nigra development;negative regulation of heterotypic cell-cell adhesion;maintenance of permeability of blood-brain barrier;myelination;membrane organization;positive regulation of chemokine (C-C motif) ligand 2 secretion;positive regulation of metalloendopeptidase activity;positive regulation of interleukin-6 secretion
Cellular component: nucleus;plasma membrane;cell surface;protein-containing complex;internode region of axon;neuronal cell body;myelin sheath;compact myelin;cell periphery
Molecular function: protease binding;protein binding;calmodulin binding;structural constituent of myelin sheath