MBP Gene (Protein Coding)

Myelin Basic Protein

GC18M076978
GIFtS:
46
The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MB... See more...

Aliases for MBP Gene

Aliases for MBP Gene

  • Myelin Basic Protein 2 3 4 5
  • Myelin Membrane Encephalitogenic Protein 3 4
  • Myelin A1 Protein 3 4
  • Proline-Rich Proteoglycan 2 3
  • Golli-MBP 3
  • MBP 5

External Ids for MBP Gene

Previous GeneCards Identifiers for MBP Gene

  • GC18M074281
  • GC18M074839
  • GC18M074453
  • GC18M072817
  • GC18M072819
  • GC18M074690
  • GC18M071371

Summaries for MBP Gene

Entrez Gene Summary for MBP Gene

  • The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for MBP Gene

MBP (Myelin Basic Protein) is a Protein Coding gene. Diseases associated with MBP include Demyelinating Disease and Secondary Progressive Multiple Sclerosis. Among its related pathways are G-protein signaling Ras family GTPases in kinase cascades (scheme) and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include protease binding and structural constituent of myelin sheath.

UniProtKB/Swiss-Prot Summary for MBP Gene

  • 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.

Tocris Summary for MBP Gene

Gene Wiki entry for MBP Gene

Additional gene information for MBP Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBP Gene

Genomics for MBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MBP Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J077122 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 256.4 +4.9 4897 12 ZBTB10 SP1 BCL11A FEZF1 NR2C1 ZFP64 POLR2A ZEB1 ZIC2 CEBPB MBP lnc-ZNF516-14 HSALNG0122610 L18861 MN297544 lnc-MBP-13 ZNF236
GH18J077018 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.1 +116.6 116633 0.1 MBP piR-54764-304 ENSG00000279811 ENSG00000287680 lnc-MBP-13 ZNF236
GH18J077134 Enhancer 0.3 ENCODE dbSUPER 250.7 -1.1 -1120 0 L18861 MBP lnc-MBP-13 HSALNG0122610 HSALNG0122611 GALR1
GH18J077051 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 33.6 +79.1 79076 6.4 SP1 BCL11A BRCA1 CTCF ZEB1 ZIC2 HOMEZ CEBPB GABPA FOXA2 HSALNG0122605 MBP ZNF236 piR-36393-244 lnc-MBP-13
GH18J077059 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 27.6 +66.2 66171 15.8 SP1 BCL11A CTCF BRCA1 ZIC2 CEBPB MAX IRF4 TRIM22 EP300 MBP HSALNG0122605 ENSG00000275178 lnc-MBP-13 ZNF236
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBP

Top Transcription factor binding sites by QIAGEN in the MBP gene promoter:
  • AP-1
  • PPAR-alpha

Genomic Locations for MBP Gene

Latest Assembly
chr18:76,978,827-77,133,708
(GRCh38/hg38)
Size:
154,882 bases
Orientation:
Minus strand

Previous Assembly
chr18:74,690,789-74,844,739
(GRCh37/hg19 by Entrez Gene)
Size:
153,951 bases
Orientation:
Minus strand

chr18:74,690,783-74,845,639
(GRCh37/hg19 by Ensembl)
Size:
154,857 bases
Orientation:
Minus strand

Genomic View for MBP Gene

Genes around MBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MBP Gene

Proteins for MBP Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for MBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02686-MBP_HUMAN
    Recommended name:
    Myelin basic protein
    Protein Accession:
    P02686
    Secondary Accessions:
    • A4FU54
    • A6NI84
    • A8MY86
    • A8MYL4
    • B3KY66
    • B7ZKS2
    • B7ZKS4
    • Q15337
    • Q15338
    • Q15339
    • Q15340
    • Q59GX3
    • Q65ZS4
    • Q6AI64
    • Q6FH37
    • Q6FI04
    • Q6PK23

    Protein attributes for MBP Gene

    Size:
    304 amino acids
    Molecular mass:
    33117 Da
    Quaternary structure:
    • Homodimer. Isoform 3 exists as a homodimer.
    SequenceCaution:
    • Sequence=AAC41944.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The C-terminus contains a Histidine tag.; Evidence={ECO:0000305}; Sequence=BAD92223.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10359.1; Type=Miscellaneous discrepancy; Note=wrong intron-exon boundaries.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Contains a non-traditional PY nuclear localization signal. Mutagenesis of Cys-81 to Ser prevents dimerization.

    Three dimensional structures from OCA and Proteopedia for MBP Gene

    Alternative splice isoforms for MBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBP Gene

Protein Expression for MBP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MBP Gene

  • Several charge isomers of MBP; C1 (the most cationic, least modified, and most abundant form), C2, C3, C4, C5, C6, C7, C8-A and C8-B (the least cationic form); are produced as a result of optional PTM, such as phosphorylation, deamidation of glutamine or asparagine, arginine citrullination and methylation. C8-A and C8-B contain each two mass isoforms termed C8-A(H), C8-A(L), C8-B(H) and C8-B(L), (H) standing for higher and (L) for lower molecular weight. C3, C4 and C5 are phosphorylated. The ratio of methylated arginine residues decreases during aging, making the protein more cationic.
  • The N-terminal alanine is acetylated (isoform 3, isoform 4, isoform 5 and isoform 6).
  • Arg-241 was found to be 6% monomethylated and 60% symmetrically dimethylated.
  • Phosphorylated by TAOK2, VRK2, MAPK11, MAPK12, MAPK14 and MINK1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for MBP Gene

Domains & Families for MBP Gene

Gene Families for MBP Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MBP Gene

InterPro:
Blocks:
  • Myelin basic protein
ProtoNet:

Suggested Antigen Peptide Sequences for MBP Gene

GenScript: Design optimal peptide antigens:
  • Myelin membrane encephalitogenic protein (MBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02686

UniProtKB/Swiss-Prot:

MBP_HUMAN :
  • Belongs to the myelin basic protein family.
Family:
  • Belongs to the myelin basic protein family.
genes like me logo Genes that share domains with MBP: view

Function for MBP Gene

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  6. Cell Lines for research

Molecular function for MBP Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
myelin,basic protein,major component of normal myelin of central nervous system,with three alternatively spliced isoforms

Phenotypes From GWAS Catalog for MBP Gene

Gene Ontology (GO) - Molecular Function for MBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0005516 calmodulin binding IPI 19855925
GO:0019911 structural constituent of myelin sheath IEA,IBA 21873635
genes like me logo Genes that share ontologies with MBP: view
genes like me logo Genes that share phenotypes with MBP: view

Animal Models for MBP Gene

MGI Knock Outs for MBP:
  • Mbp Mbp<tm1Atc>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBP

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBP Gene

Localization for MBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBP Gene

Myelin membrane. Peripheral membrane protein. Cytoplasmic side. Note=Cytoplasmic side of myelin.
[Isoform 3]: Nucleus. Note=Targeted to nucleus in oligodendrocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBP gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 4
extracellular 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface ISS --
GO:0016020 membrane IEA --
GO:0032991 protein-containing complex IDA 19855925
genes like me logo Genes that share ontologies with MBP: view

Pathways & Interactions for MBP Gene

genes like me logo Genes that share pathways with MBP: view

Pathways by source for MBP Gene

1 Cell Signaling Technology pathway for MBP Gene

SIGNOR curated interactions for MBP Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for MBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 22524708
GO:0006955 immune response TAS 7504278
GO:0007268 chemical synaptic transmission TAS 2434243
GO:0007417 central nervous system development TAS 2434243
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with MBP: view

Drugs & Compounds for MBP Gene

Products:

  1. Drug products for research

(65) Drugs for MBP Gene - From: ClinicalTrials, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra 813,813
Rifaximin Approved, Investigational Pharma Pregnane X receptor agonist; antibiotic 165
Sodium sulfate Approved, Vet_approved Pharma 33
Anti-Bacterial Agents Pharma 12734
Antibiotics, Antitubercular Pharma 7947

(51) Additional Compounds for MBP Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3-O-Sulphogalactosylceramide (D18:1/24:0)
 151122-71-3
B2
115687-05-3
Nogo-66 (1-40)
475221-20-6
PLP (139-151)
122018-58-0
TCS PrP Inhibitor 13
34320-83-7

(5) Tocris Compounds for MBP Gene

Compound Action Cas Number
B2 Promotes inclusion formation in Huntington's and Parkinson's diseases 115687-05-3
MOG (35-55) Encephalitogenic myelin oligodendrocyte glycoprotein fragment 149635-73-4
Nogo-66 (1-40) Competitive antagonist for Nogo-66 receptor; promotes neuron regeneration 475221-20-6
PLP (139-151) Encephalitogenic myelin proteolipid fragment 122018-58-0
TCS PrP Inhibitor 13 Antiprion agent; potently inhibits PrP-res accumulation 34320-83-7

(2) ApexBio Compounds for MBP Gene

Compound Action Cas Number
Myelin Basic Protein (68-82), guinea pig 98474-59-0
Myelin Basic Protein (87-99) Encephalitogenic peptide 118506-26-6
genes like me logo Genes that share compounds with MBP: view

Drug products for research

Transcripts for MBP Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for MBP Gene

8 REFSEQ mRNAs :
42 NCBI additional mRNA sequence :
49 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBP

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for MBP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - -
SP6: -
SP7:
SP8:
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - -
SP11: - -
SP12: - - -
SP13: -
SP14:
SP15: -

ExUns: 14c · 14d ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for MBP Gene

GeneLoc Exon Structure for
MBP

Expression for MBP Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBP Gene

mRNA expression in normal human tissues for MBP Gene
mRNA expression by GTEx for MBP GenemRNA expression by BioGPS for MBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MBP Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x22.1), Brain - Substantia nigra (x8.0), Brain - Hippocampus (x4.1), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for MBP Gene

This gene is overexpressed in Spinal cord (37.6), Frontal cortex (16.5), and Brain (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MBP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBP

SOURCE GeneReport for Unigene cluster for MBP Gene:

Hs.551713

mRNA Expression by UniProt/SwissProt for MBP Gene:

P02686-MBP_HUMAN
Tissue specificity: MBP isoforms are found in both the central and the peripheral nervous system, whereas Golli-MBP isoforms are expressed in fetal thymus, spleen and spinal cord, as well as in cell lines derived from the immune system.

Evidence on tissue expression from TISSUES for MBP Gene

  • Nervous system(5)
  • Kidney(5)
  • Skin(4.9)
  • Lung(4.6)
  • Eye(3.7)
  • Blood(3.2)
  • Muscle(3.2)
  • Spleen(2.9)
  • Lymph node(2.9)
  • Thyroid gland(2.8)
  • Heart(2.7)
  • Intestine(2.6)
  • Pancreas(2.6)
  • Bone marrow(2.5)
  • Liver(2.5)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with MBP: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBP Gene

Orthologs for MBP Gene

This gene was present in the common ancestor of chordates.

Orthologs for MBP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MBP 30 31
  • 100 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mbp 30 17 31
  • 88.35 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MBP 30 31
  • 86.51 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MBP 30 31
  • 84.88 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MBP 31
  • 47 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MBP 31
  • 32 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MBP 30 31
  • 71.66 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MBP 31
  • 42 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mbp 30
  • 69.7 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25724 30
Zebrafish
(Danio rerio)
 Actinopterygii mbpb 30 31
  • 61.48 (n)
 OneToOne
Species where no ortholog for MBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MBP Gene

ENSEMBL:
Gene Tree for MBP (if available)
TreeFam:
Gene Tree for MBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MBP: view image

Paralogs for MBP Gene

No data available for Paralogs for MBP Gene

Variants for MBP Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBP Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs114952201 Benign: not provided 76,990,036(-) C/T
NM_001025101.2(MBP):c.601G>A (p.Ala201Thr) 		MISSENSE
rs1445158436 Likely Benign: not provided 76,988,486(-) G/A
NM_001025101.2(MBP):c.750+9C>T 		INTRON
rs148247033 Benign: not provided 77,017,017(-) G/A
NM_001025101.2(MBP):c.391C>T (p.Leu131=) 		SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs150638800 Likely Benign: not provided 77,017,165(-) G/A
NM_001025101.2(MBP):c.243C>T (p.His81=) 		SYNONYMOUS
rs1599445391 Likely Benign: not provided 76,980,465(-) T/G
NM_001025101.2(MBP):c.877A>C (p.Arg293=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MBP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MBP Gene

Variant ID Type Subtype PubMed ID
dgv1646n106 CNV deletion 24896259
dgv644e214 CNV gain 21293372
esv1000858 CNV deletion 20482838
esv1080906 CNV insertion 17803354
esv1249335 CNV deletion 17803354
esv1337607 CNV deletion 17803354
esv1353770 CNV insertion 17803354
esv2008649 CNV deletion 18987734
esv2425384 CNV deletion 19546169
esv2535215 CNV deletion 19546169
esv2578357 CNV deletion 19546169
esv2663549 CNV deletion 23128226
esv2669970 CNV deletion 23128226
esv2717388 CNV deletion 23290073
esv2717424 CNV deletion 23290073
esv2717425 CNV deletion 23290073
esv2717426 CNV deletion 23290073
esv2717427 CNV deletion 23290073
esv2717428 CNV deletion 23290073
esv2717430 CNV deletion 23290073
esv2717431 CNV deletion 23290073
esv2717432 CNV deletion 23290073
esv3092 CNV loss 18987735
esv3304990 CNV mobile element insertion 20981092
esv3368724 CNV duplication 20981092
esv3555709 CNV deletion 23714750
esv3555710 CNV deletion 23714750
esv3643197 CNV loss 21293372
esv3643200 CNV loss 21293372
esv3643201 CNV loss 21293372
esv3643203 CNV loss 21293372
esv3643205 CNV loss 21293372
esv9710 CNV loss 19470904
esv996768 CNV insertion 20482838
esv999528 CNV insertion 20482838
nsv1059093 CNV gain 25217958
nsv1063632 CNV gain 25217958
nsv1071866 CNV deletion 25765185
nsv1071867 CNV deletion 25765185
nsv1072817 CNV deletion 25765185
nsv1116515 CNV deletion 24896259
nsv1118338 CNV deletion 24896259
nsv1123196 CNV deletion 24896259
nsv1123197 CNV deletion 24896259
nsv1125659 CNV tandem duplication 24896259
nsv1143886 CNV deletion 24896259
nsv1152768 CNV deletion 26484159
nsv130931 CNV insertion 16902084
nsv526525 CNV loss 19592680
nsv953563 CNV duplication 24416366
nsv954091 CNV deletion 24416366
nsv954133 CNV deletion 24416366

Variation tolerance for MBP Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBP Gene

Human Gene Mutation Database (HGMD)
MBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBP Gene

Disorders for MBP Gene

MalaCards: The human disease database

(107) MalaCards diseases for MBP Gene - From: COP and GCD

Disorder Aliases PubMed IDs
demyelinating disease
  • demyelinating disorder
secondary progressive multiple sclerosis
  • secondary-progressive ms
optic neuritis
central pontine myelinolysis
  • osmotic demyelination syndrome
acute disseminated encephalomyelitis
  • acute disseminated encephalitis
- elite association - COSMIC cancer census association via MalaCards
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UniProtKB/Swiss-Prot

MBP_HUMAN
  • 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).

Additional Disease Information for MBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MBP: view

No data available for Genatlas for MBP Gene

Publications for MBP Gene

  1. Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers. (PMID: 17622942) Grossman I … Miller A (Pharmacogenetics and genomics 2007) 3 23 41
  2. Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians. (PMID: 12939427) Guerini FR … Favorova OO (Neurology 2003) 3 23 41
  3. The isolation and characterization of four myelin basic proteins from the unbound fraction during CM52 chromatography. (PMID: 7574672) Boulias C … Moscarello MA (Archives of biochemistry and biophysics 1995) 3 4 23
  4. Identification of three forms of human myelin basic protein by cDNA cloning. (PMID: 2425357) Kamholz J … Lazzarini R (Proceedings of the National Academy of Sciences of the United States of America 1986) 2 3 4
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41

ExternalLinks

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