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    Mpig6b megakaryocyte and platelet inhibitory receptor G6b [ Mus musculus (house mouse) ]

    Gene ID: 106722, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mpig6bprovided by MGI
    Official Full Name
    megakaryocyte and platelet inhibitory receptor G6bprovided by MGI
    Primary source
    MGI:MGI:2146995
    See related
    Ensembl:ENSMUSG00000073414 AllianceGenome:MGI:2146995
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    G6b; Ng31; C6orf25
    Summary
    Acts upstream of or within blood coagulation; integrin-mediated signaling pathway; and myeloid cell differentiation. Predicted to be located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Predicted to be active in plasma membrane. Orthologous to human MPIG6B (megakaryocyte and platelet inhibitory receptor G6b). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in spleen adult (RPKM 1.4), testis adult (RPKM 1.3) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mpig6b in Genome Data Viewer
    Location:
    17 B1; 17 18.59 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35281669..35285761, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (35062693..35066848, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42445 Neighboring gene chloride intracellular channel 1 Neighboring gene STARR-positive B cell enhancer ABC_E11641 Neighboring gene DDAH family member 2, ADMA independent Neighboring gene G6b opposite strand Neighboring gene lymphocyte antigen 6 family member G6C Neighboring gene lymphocyte antigen 6 family member G6D Neighboring gene STARR-seq mESC enhancer starr_42446 Neighboring gene lymphocyte antigen 6 family member G6E

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B. Vögtle T, et al. Elife, 2019 Aug 22. PMID 31436532, Free PMC Article
    2. Uncoupling ITIM receptor G6b-B from tyrosine phosphatases Shp1 and Shp2 disrupts murine platelet homeostasis. Geer MJ, et al. Blood, 2018 Sep 27. PMID 29891536, Free PMC Article
    3. Megakaryocyte-specific deletion of the protein-tyrosine phosphatases Shp1 and Shp2 causes abnormal megakaryocyte development, platelet production, and function. Mazharian A, et al. Blood, 2013 May 16. PMID 23509158, Free PMC Article
    4. Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function. Mazharian A, et al. Sci Signal, 2012 Oct 30. PMID 23112346, Free PMC Article
    5. Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. West DB, et al. PLoS Genet, 2016 Feb. PMID 26839965, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Uncoupling of G6b-B from Shp1 and Shp2 results in severe macrothrombocytopenia and aberrant platelet function.
      Title: Uncoupling ITIM receptor G6b-B from tyrosine phosphatases Shp1 and Shp2 disrupts murine platelet homeostasis.
    2. these findings establish G6b-B as a major inhibitory receptor regulating megakaryocyte activation, function, and platelet production.
      Title: Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in megakaryocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within megakaryocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in megakaryocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in platelet formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within platelet formation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    megakaryocyte and platelet inhibitory receptor G6b
    Names
    ITIM-receptor G6b-B
    immunoreceptor tyrosine-based inhibitory motif (ITIM) containing platelet receptor
    protein G6b

    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.

    mRNA and Protein(s)

    1. NM_001033221.3 → NP_001028393.1  megakaryocyte and platelet inhibitory receptor G6b isoform 2 precursor

      See identical proteins and their annotated locations for NP_001028393.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AK137516
      Consensus CDS
      CCDS28676.1
      UniProtKB/TrEMBL
      D3YVS6
      Related
      ENSMUSP00000094950.2, ENSMUST00000097337.8
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 165
      G6B; G6B family

    2. NM_001191012.1 → NP_001177941.1  megakaryocyte and platelet inhibitory receptor G6b isoform 1 precursor

      See identical proteins and their annotated locations for NP_001177941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK137516, GU269270
      Consensus CDS
      CCDS57071.1
      UniProtKB/Swiss-Prot
      D7PDD4
      Related
      ENSMUSP00000133377.2, ENSMUST00000174190.2
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 242
      G6B; G6B family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      35281669..35285761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006523419.5 → XP_006523482.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

      See identical proteins and their annotated locations for XP_006523482.1

      Conserved Domains (1) summary
      pfam15096
      Location:20 → 289
      G6B; G6B family

    2. XM_011246241.4 → XP_011244543.1  megakaryocyte and platelet inhibitory receptor G6b isoform X2

      See identical proteins and their annotated locations for XP_011244543.1

      Conserved Domains (1) summary
      pfam15096
      Location:20 → 167
      G6B; G6B family

    3. XM_006523420.5 → XP_006523483.1  megakaryocyte and platelet inhibitory receptor G6b isoform X3

      See identical proteins and their annotated locations for XP_006523483.1

      Conserved Domains (1) summary
      pfam15096
      Location:20 → 185
      G6B; G6B family

    RNA

    1. XR_876452.4 RNA Sequence

    2. XR_876451.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D7PDD4.1 GenPept UniProtKB/Swiss-Prot:D7PDD4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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