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GPM6B glycoprotein M6B [ Homo sapiens (human) ]

Gene ID: 2824, updated on 3-Apr-2024

Summary

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Official Symbol
GPM6Bprovided by HGNC
Official Full Name
glycoprotein M6Bprovided by HGNC
Primary source
HGNC:HGNC:4461
See related
Ensembl:ENSG00000046653 MIM:300051; AllianceGenome:HGNC:4461
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M6B
Summary
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]
Expression
Biased expression in brain (RPKM 225.8) and prostate (RPKM 7.6) See more
Orthologs
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Genomic context

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Location:
Xp22.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13770939..13938638, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13352374..13518889, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13789058..13956757, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20667 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:13710181-13710377 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:13778869-13779368 Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene NANOG hESC enhancer GRCh37_chrX:13820205-13820738 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:14051018-14051200 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell Serotonin Absorptive Capacity. He S, et al. Dis Markers, 2020. PMID 33294057, Free PMC Article
  2. Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. Henneke M, et al. Am J Med Genet A, 2004 Jul 15. PMID 15214007
  3. Mutation analysis of the M6b gene in patients with Rett syndrome. Narayanan V, et al. Am J Med Genet, 1998 Jun 30. PMID 9674909
  4. Vascular marker expression during the development of various types of gynaecological malignancy. Urban P, et al. Tumour Biol, 2014 Nov. PMID 25113253
  5. Identification of GPM6A and GPM6B as potential new human lymphoid leukemia-associated oncogenes. Charfi C, et al. Cell Oncol (Dordr), 2014 Jun. PMID 24916915

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell Serotonin Absorptive Capacity.
    Title: GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell Serotonin Absorptive Capacity.
  2. Findings demonstrate that GPM6B plays a crucial role in SMC differentiation and regulates SMC differentiation through the activation of TGF-beta-Smad2/3 signaling via direct interactions with TbetaRI.
    Title: Glycoprotein M6B Interacts with TβRI to Activate TGF-β-Smad2/3 Signaling and Promote Smooth Muscle Cell Differentiation.
  3. Data indicate that neuronal membrane glycoproteins GPM6A and GPM6B may act as novel oncogenes in the development of lymphoid leukemia.
    Title: Identification of GPM6A and GPM6B as potential new human lymphoid leukemia-associated oncogenes.
  4. Increase in the expression levels of mRNA and protein for the Gpm6B is associated with various types of gynaecological malignancy.
    Title: Vascular marker expression during the development of various types of gynaecological malignancy.
  5. Circulating levels of DR6 and Gpm6B correlate with breast cancer tumor grade.
    Title: Breast carcinoma progression and tumour vascular markers related to apoptotic mechanisms.
  6. Data show the Differences in high resolution melting analysis in promoters of tumor markers neuronal membrane glycoprotein M6-B, melanoma antigen family A12 and immunoglobulin superfamily Fc receptor indicated invasiveness of hepatocellular carcinoma.
    Title: Discovery and validation of DNA hypomethylation biomarkers for liver cancer using HRM-specific probes.
  7. Microarray expression analysis of GPM6B-depleted osteogenic human mesenchymal stem cells revealed significant changes in genes involved in cytoskeleton organization and biogenesis.
    Title: GPM6B regulates osteoblast function and induction of mineralization by controlling cytoskeleton and matrix vesicle release.
  8. Data suggest that M6B regulates serotonin uptake by affecting cellular trafficking of the serotonin transporter.
    Title: Membrane glycoprotein M6B interacts with the human serotonin transporter.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
  10. it is unlikely that mutations in M6B have a role in Pelizaeus-Merzbacher-like syndrome, as examined in eight patients
    Title: Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein glycoprotein M6B (GPM6B), which co-localizes with Nef at the cellular perinuclear region and in most of the vesicular compartments PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC17150, MGC54284

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables structural constituent of myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in axon development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in central nervous system myelination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in extracellular matrix assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein localization to cell surface ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of serotonin uptake IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of serotonin uptake ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nervous system development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
neuronal membrane glycoprotein M6-b
Names
protolipid M6B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011988.1 RefSeqGene

    Range
    126620..172774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001994.3 → NP_001001994.1  neuronal membrane glycoprotein M6-b isoform 4

    See identical proteins and their annotated locations for NP_001001994.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate exon structure in the 5' UTR and 5' coding region and uses an alternate splice site in the 3' terminal exon compared to variant 1. The encoded protein (isoform 4) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC003037, CD516484, U45955
    Consensus CDS
    CCDS48084.1
    UniProtKB/TrEMBL
    Q59FD5
    Related
    ENSP00000389915.2, ENST00000454189.7
    Conserved Domains (1) summary
    pfam01275
    Location:3 → 239
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  2. NM_001001995.3 → NP_001001995.1  neuronal membrane glycoprotein M6-b isoform 1

    See identical proteins and their annotated locations for NP_001001995.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (1).
    Source sequence(s)
    AA991690, AC003037, AK095657, AL119977, BC047295, BG532134, BI669888, DA191910
    Consensus CDS
    CCDS35206.1
    UniProtKB/TrEMBL
    Q59FD5
    Related
    ENSP00000316861.4, ENST00000316715.9
    Conserved Domains (1) summary
    pfam01275
    Location:62 → 298
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  3. NM_001001996.3 → NP_001001996.1  neuronal membrane glycoprotein M6-b isoform 2

    See identical proteins and their annotated locations for NP_001001996.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC003037, BC047295, DA191910
    Consensus CDS
    CCDS35207.1
    Related
    ENSP00000347258.2, ENST00000355135.6
    Conserved Domains (1) summary
    pfam01275
    Location:62 → 298
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  4. NM_001318729.2 → NP_001305658.1  neuronal membrane glycoprotein M6-b isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate exon structure in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB209525, AC003037, CD516484
    UniProtKB/TrEMBL
    Q59FD5
    Conserved Domains (1) summary
    pfam01275
    Location:3 → 239
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  5. NM_005278.5 → NP_005269.1  neuronal membrane glycoprotein M6-b isoform 3

    See identical proteins and their annotated locations for NP_005269.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region and uses an alternate splice site in the 3' terminal exon compared to variant 1. This results in a shorter isoform (3) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC003037, BC008151, DA191910
    Consensus CDS
    CCDS14158.1
    UniProtKB/Swiss-Prot
    O76077, Q13491, Q86X43, Q8N956
    UniProtKB/TrEMBL
    Q59FD5
    Related
    ENSP00000349420.5, ENST00000356942.9
    Conserved Domains (1) summary
    pfam01275
    Location:22 → 258
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    13770939..13938638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545497.3 → XP_011543799.1  neuronal membrane glycoprotein M6-b isoform X1

    See identical proteins and their annotated locations for XP_011543799.1

    UniProtKB/TrEMBL
    Q59FD5
    Conserved Domains (1) summary
    pfam01275
    Location:43 → 279
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  2. XM_017029432.2 → XP_016884921.1  neuronal membrane glycoprotein M6-b isoform X3

    UniProtKB/TrEMBL
    Q59FD5
    Conserved Domains (1) summary
    pfam01275
    Location:43 → 279
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  3. XM_047442007.1 → XP_047297963.1  neuronal membrane glycoprotein M6-b isoform X5

    UniProtKB/TrEMBL
    B7Z613
    Related
    ENSP00000419904.1, ENST00000493677.5

  4. XM_005274489.6 → XP_005274546.1  neuronal membrane glycoprotein M6-b isoform X2

    See identical proteins and their annotated locations for XP_005274546.1

    UniProtKB/TrEMBL
    Q59FD5
    Conserved Domains (1) summary
    pfam01275
    Location:22 → 258
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

  5. XM_047442009.1 → XP_047297965.1  neuronal membrane glycoprotein M6-b isoform X4

    Conserved Domains (1) summary
    pfam01275
    Location:1 → 172
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    13352374..13518889 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326867.1 → XP_054182842.1  neuronal membrane glycoprotein M6-b isoform X1

  2. XM_054326869.1 → XP_054182844.1  neuronal membrane glycoprotein M6-b isoform X3

  3. XM_054326870.1 → XP_054182845.1  neuronal membrane glycoprotein M6-b isoform X4

  4. XM_054326868.1 → XP_054182843.1  neuronal membrane glycoprotein M6-b isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13491.2 GenPept UniProtKB/Swiss-Prot:Q13491

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