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Aliases for GPM6B Gene

Aliases for GPM6B Gene

  • Glycoprotein M6B 2 3 5
  • M6B 3 4
  • Neuronal Membrane Glycoprotein M6-B 3
  • 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. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]

GeneCards Summary for GPM6B Gene

GPM6B (Glycoprotein M6B) is a Protein Coding gene. Diseases associated with GPM6B include Rett Syndrome and Hypomyelinating Leukodystrophy. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPM6B Gene

Genomics for GPM6B Gene

Regulatory Elements for GPM6B Gene

Enhancers for GPM6B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG013897 1.1 ENCODE dbSUPER 41.3 +39.7 39676 2.6 TBP CTCF JUN INSM2 MAX EBF1 RAD21 ZNF366 SCRT2 SMC3 GPM6B GC0XM013757
GH0XG013890 0.6 dbSUPER 41.2 +45.7 45690 5.6 PRDM6 GLIS1 ZNF133 CEBPB PRDM10 ZIC2 ATF2 SPI1 GPM6B GC0XM013757
GH0XG013908 0.5 dbSUPER 30.9 +27.8 27818 5.7 ZNF316 ZNF133 MAFK ZNF18 GPM6B GC0XM013757
GH0XG013900 0.4 dbSUPER 38.2 +38.1 38064 0.4 KLF16 ATF2 GPM6B GC0XM013757
GH0XG013905 0.6 dbSUPER 22.2 +33.1 33076 0.9 CTCF PRDM6 SIN3A MNT RAD21 FOXA1 GPM6B GC0XM013757
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPM6B on UCSC Golden Path with GeneCards custom track

Promoters for GPM6B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244677 432 1401 KLF17 GLIS2 EGR2 SP3 ZNF398 PRDM6 ZNF341 ZNF24 ZBTB26 PRDM1

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

Genes around GPM6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPM6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GPM6B Gene

  • Glycosylation at isoforms=2, 3, 473 and posLast=177177
  • 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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 GPM6B gene
Compartment Confidence
plasma membrane 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for GPM6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
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

Gene Ontology (GO) - Biological Process for GPM6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006810 transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development NAS 8661015
GO:0015031 protein transport IEA --
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

Unigene Clusters for GPM6B Gene

Glycoprotein M6B:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GPM6B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPM6B Gene:

GPM6B

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.

Evidence on tissue expression from TISSUES for GPM6B Gene

  • Nervous system(5)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with GPM6B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GPM6B 34 35
  • 100 (n)
mouse
(Mus musculus)
Mammalia Gpm6b 34 16 35
  • 93.7 (n)
dog
(Canis familiaris)
Mammalia GPM6B 34 35
  • 93.39 (n)
cow
(Bos Taurus)
Mammalia GPM6B 35
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPM6B 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPM6B 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPM6B 34 35
  • 84.95 (n)
lizard
(Anolis carolinensis)
Reptilia GPM6B 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpm6b 34
  • 82.64 (n)
Str.2894 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14003 34
zebrafish
(Danio rerio)
Actinopterygii gpm6bb 35
  • 68 (a)
OneToOne
Dr.28505 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10467 34
fruit fly
(Drosophila melanogaster)
Insecta M6 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for GPM6B was found in the sources mined by GeneCards:
  • 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
rs1000008602 -- 13,890,139(+) AAAGA(C/T)CTTGC intron-variant
rs1000014315 -- 13,884,718(+) TGAGA(A/G)CTACA intron-variant
rs1000018045 -- 13,776,574(+) TTGAT(A/G)GCTGT intron-variant
rs1000067885 -- 13,787,491(+) GAAGA(A/G)GTTGC intron-variant, upstream-variant-2KB
rs1000094085 -- 13,794,839(+) AACCA(A/G)CGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2661778 CNV deletion 23128226
esv3573596 CNV loss 25503493
esv991320 CNV deletion 20482838
nsv1075308 CNV deletion 25765185
nsv1142566 CNV tandem duplication 24896259
nsv1144317 CNV deletion 24896259
nsv472412 CNV novel sequence insertion 20440878
nsv473578 CNV novel sequence insertion 20440878
nsv510816 CNV deletion 20534489
nsv512670 CNV loss 21212237
nsv516360 CNV loss 19592680
nsv526098 CNV loss 19592680
nsv528634 CNV gain 19592680
nsv953403 CNV deletion 24416366

Variation tolerance for GPM6B Gene

Residual Variation Intolerance Score: 20.6% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPM6B

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

Disorders for GPM6B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rett syndrome
  • rett syndrome, preserved speech variant
hypomyelinating leukodystrophy
  • hld
- elite association - COSMIC cancer census association via MalaCards
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 3 4 22 64
  2. GPM6B regulates osteoblast function and induction of mineralization by controlling cytoskeleton and matrix vesicle release. (PMID: 21638316) Drabek K. … van Leeuwen J.P. (J. Bone Miner. Res. 2011) 3 4 64
  3. Membrane glycoprotein M6B interacts with the human serotonin transporter. (PMID: 18581270) Fjorback A.W. … Wiborg O. (J. Mol. Neurosci. 2009) 3 4 64
  4. Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. (PMID: 17918249) Sebastiani P. … Steinberg M.H. (Am. J. Hematol. 2008) 3 46 64
  5. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. (PMID: 16416265) Combes P. … Vaurs-BarriA"re C. (Neurogenetics 2006) 3 46 64

Products for GPM6B Gene

Sources for GPM6B Gene

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