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Aliases for GPM6B Gene

Aliases for GPM6B Gene

  • Glycoprotein M6B 2 3
  • M6B 3 4
  • Protolipid M6B 3

External Ids for GPM6B Gene

Previous GeneCards Identifiers for GPM6B Gene

  • GC0XM013030
  • GC0XM012608
  • GC0XM013150
  • GC0XM013548
  • GC0XM013698
  • GC0XM011546

Summaries for GPM6B Gene

Entrez Gene Summary for GPM6B Gene

  • This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions, such as membrane trafficking and cell-to-cell communication. [provided by RefSeq, Apr 2009]

GeneCards Summary for GPM6B Gene

GPM6B (Glycoprotein M6B) is a Protein Coding gene. Diseases associated with GPM6B include rett syndrome. An important paralog of this gene is GPM6A.

UniProtKB/Swiss-Prot for GPM6B Gene

  • May be involved in neural development. Involved in regulation of osteoblast function and bone formation. Involved in matrix vesicle release by osteoblasts; this function seems to involve maintenance of the actin cytoskeleton. May be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake.

Gene Wiki entry for GPM6B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPM6B Gene

Genomics for GPM6B Gene

Regulatory Elements for GPM6B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GPM6B Gene

Chromosome:
X
Start:
13,770,939 bp from pter
End:
13,938,732 bp from pter
Size:
167,794 bases
Orientation:
Minus strand

Genomic View for GPM6B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GPM6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPM6B Gene

Proteins for GPM6B Gene

  • Protein details for GPM6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13491-GPM6B_HUMAN
    Recommended name:
    Neuronal membrane glycoprotein M6-b
    Protein Accession:
    Q13491
    Secondary Accessions:
    • O76077
    • Q86X43
    • Q8N956

    Protein attributes for GPM6B Gene

    Size:
    265 amino acids
    Molecular mass:
    28989 Da
    Quaternary structure:
    • Interacts with SERT.
    SequenceCaution:
    • Sequence=AAB16888.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC19165.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GPM6B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPM6B Gene

Proteomics data for GPM6B Gene at MOPED

Post-translational modifications for GPM6B Gene

  • Glycosylation at Asn 73 and Asn 177
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPM6B Gene

Domains & Families for GPM6B Gene

Protein Domains for GPM6B Gene

Graphical View of Domain Structure for InterPro Entry

Q13491

UniProtKB/Swiss-Prot:

GPM6B_HUMAN :
  • Belongs to the myelin proteolipid protein family.
Family:
  • Belongs to the myelin proteolipid protein family.
genes like me logo Genes that share domains with GPM6B: view

No data available for Gene Families for GPM6B Gene

Function for GPM6B Gene

Molecular function for GPM6B Gene

GENATLAS Biochemistry:
neuronal membrane glycoprotein M6B,with strong homology to PLP, murine Gpm6 homolog
UniProtKB/Swiss-Prot Function:
May be involved in neural development. Involved in regulation of osteoblast function and bone formation. Involved in matrix vesicle release by osteoblasts; this function seems to involve maintenance of the actin cytoskeleton. May be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake.

Gene Ontology (GO) - Molecular Function for GPM6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with GPM6B: view
genes like me logo Genes that share phenotypes with GPM6B: view

Animal Models for GPM6B Gene

MGI Knock Outs for GPM6B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPM6B

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPM6B Gene

Localization for GPM6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPM6B Gene

Cell membrane; Multi-pass membrane protein. Note=Colocalizes with SERT at the plasma membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPM6B Gene COMPARTMENTS Subcellular localization image for GPM6B gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for GPM6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0016021 integral component of membrane IEA --
GO:0045121 membrane raft ISS --
genes like me logo Genes that share ontologies with GPM6B: view

Pathways & Interactions for GPM6B Gene

SuperPathways for GPM6B Gene

No Data Available

Interacting Proteins for GPM6B Gene

Gene Ontology (GO) - Biological Process for GPM6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0007399 nervous system development NAS 8661015
GO:0015031 protein transport IEA --
GO:0030154 cell differentiation IEA --
GO:0030501 positive regulation of bone mineralization IMP 21638316
genes like me logo Genes that share ontologies with GPM6B: view

No data available for Pathways by source and SIGNOR curated interactions for GPM6B Gene

Drugs & Compounds for GPM6B Gene

No Compound Related Data Available

Transcripts for GPM6B Gene

mRNA/cDNA for GPM6B Gene

(7) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GPM6B Gene

Glycoprotein M6B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPM6B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPM6B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16 ^
SP1: -
SP2:
SP3: - -
SP4: -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: -
SP12: - - - - - - - -
SP13:

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for GPM6B Gene

GeneLoc Exon Structure for
GPM6B
ECgene alternative splicing isoforms for
GPM6B

Expression for GPM6B Gene

mRNA expression in normal human tissues for GPM6B Gene

mRNA differential expression in normal tissues according to GTEx for GPM6B Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.6), Brain - Amygdala (x5.1), Brain - Hippocampus (x4.8), Brain - Substantia nigra (x4.4), and Brain - Caudate (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for GPM6B Gene

This gene is overexpressed in Frontal cortex (43.6), Spinal cord (8.1), and Retina (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GPM6B Gene



SOURCE GeneReport for Unigene cluster for GPM6B Gene Hs.495710

mRNA Expression by UniProt/SwissProt for GPM6B Gene

Q13491-GPM6B_HUMAN
Tissue specificity: Neurons and glia; cerebellar Bergmann glia, in glia within white matter tracts of the cerebellum and cerebrum, and in embryonic dorsal root ganglia
genes like me logo Genes that share expression patterns with GPM6B: view

Protein tissue co-expression partners for GPM6B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GPM6B Gene

Orthologs for GPM6B Gene

This gene was present in the common ancestor of animals.

Orthologs for GPM6B Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GPM6B 35
  • 93.39 (n)
  • 97.87 (a)
GPM6B 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpm6b 35
  • 93.7 (n)
  • 98.17 (a)
Gpm6b 16
Gpm6b 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPM6B 35
  • 100 (n)
  • 100 (a)
GPM6B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPM6B 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPM6B 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPM6B 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPM6B 35
  • 84.95 (n)
  • 94.78 (a)
GPM6B 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPM6B 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpm6b 35
  • 82.64 (n)
  • 90.97 (a)
Str.2894 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14003 35
zebrafish
(Danio rerio)
Actinopterygii Dr.28505 35
gpm6bb 36
  • 68 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10467 35
fruit fly
(Drosophila melanogaster)
Insecta M6 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for GPM6B:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 GPM6B Gene

ENSEMBL:
Gene Tree for GPM6B (if available)
TreeFam:
Gene Tree for GPM6B (if available)

Paralogs for GPM6B Gene

Paralogs for GPM6B Gene

(3) SIMAP similar genes for GPM6B Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GPM6B: view

Variants for GPM6B Gene

Sequence variations from dbSNP and Humsavar for GPM6B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs13187 -- 13,773,535(+) TCAAA(A/C)CCAAA downstream-variant-500B, intron-variant
rs15990 -- 13,779,144(-) GCTGA(G/T)TAAGA intron-variant
rs16655 -- 13,779,294(-) TATAA(-/TA)ATCAT intron-variant
rs25583 -- 13,908,214(+) ACATT(-/AA)GTCTT intron-variant
rs739606 -- 13,807,043(+) CTAGC(A/G)GTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GPM6B Gene

Variant ID Type Subtype PubMed ID
nsv528634 CNV Gain 19592680
esv2661778 CNV Deletion 23128226
nsv516360 CNV Loss 19592680
nsv510816 CNV Loss 20534489
esv991320 CNV Deletion 20482838
nsv512670 CNV Loss 21212237
nsv526098 CNV Loss 19592680

Variation tolerance for GPM6B Gene

Residual Variation Intolerance Score: 20.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPM6B Gene

HapMap Linkage Disequilibrium report
GPM6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPM6B Gene

Disorders for GPM6B Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPM6B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rett syndrome
  • rett syndrome, preserved speech variant
- elite association
Search GPM6B in MalaCards View complete list of genes associated with diseases

Relevant External Links for GPM6B

Genetic Association Database (GAD)
GPM6B
Human Genome Epidemiology (HuGE) Navigator
GPM6B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPM6B
genes like me logo Genes that share disorders with GPM6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPM6B Gene

Publications for GPM6B Gene

  1. Chromosomal mapping of the human M6 genes. (PMID: 8661015) Olinsky S. … Narayanan V. (Genomics 1996) 2 23 67
  2. Stable isotope labeling by amino acids in cell culture (SILAC) and quantitative comparison of the membrane proteomes of self-renewing and differentiating human embryonic stem cells. (PMID: 19151416) Prokhorova T.A. … Blagoev B. (Mol. Cell Proteomics 2009) 23 67
  3. A proteomic study of the HUPO Plasma Proteome Project's pilot samples using an accurate mass and time tag strategy. (PMID: 16052625) Adkins J.N. … Pounds J.G. (Proteomics 2005) 23 67
  4. Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. (PMID: 15214007) Henneke M. … GAortner J. (Am. J. Med. Genet. A 2004) 23 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for GPM6B Gene

Sources for GPM6B Gene

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