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    MPIG6B megakaryocyte and platelet inhibitory receptor G6b [ Homo sapiens (human) ]

    Gene ID: 80739, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MPIG6Bprovided by HGNC
    Official Full Name
    megakaryocyte and platelet inhibitory receptor G6bprovided by HGNC
    Primary source
    HGNC:HGNC:13937
    See related
    Ensembl:ENSG00000204420 MIM:606520; AllianceGenome:HGNC:13937
    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
    G6b; NG31; G6b-B; THAMY; C6orf25
    Summary
    This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in skin (RPKM 2.2), bone marrow (RPKM 1.5) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPIG6B in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31720296..31726714)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31573330..31579747)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31691150..31694491)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LY6G6F-LY6G6D readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31681075-31681858 Neighboring gene lymphocyte antigen 6 family member G6E (pseudogene) Neighboring gene lymphocyte antigen 6 family member G6D Neighboring gene lymphocyte antigen 6 family member G6C Neighboring gene DDAH family member 2, ADMA-independent Neighboring gene chloride intracellular channel 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:31701615-31702814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31704508-31705382

    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. Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis? Batis H, et al. Pediatr Blood Cancer, 2021 Aug. PMID 33871931
    2. Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets. Psaila B, et al. Mol Cell, 2020 May 7. PMID 32386542, Free PMC Article
    3. Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly. Chen H, et al. Gene, 2019 Oct 5. PMID 31276734
    4. Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Hofmann I, et al. Blood, 2018 Sep 27. PMID 29898956, Free PMC Article
    5. G6b-B cell surface inhibitory receptor expression is highly restricted to CD4+ T-cells and induced by interleukin-4-activated STAT6 pathway. Li J, et al. Hum Immunol, 2007 Aug. PMID 17678728

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?
      Title: Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?
    2. Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.
      Title: Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.
    3. Using platelets from humans and genetically modified mice, we demonstrate that binding of G6b-B to heparan sulfate and multivalent heparin inhibits platelet and megakaryocyte function by inducing downstream signaling via the tyrosine phosphatases Shp1 and Shp2.
      Title: Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B.
    4. Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.
      Title: Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.
    5. Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function.
      Title: Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
    6. G6B seems to act through an autosomal recessive mode of disease transmission in this family and regarded as the gene responsible for the observed hematological disorder.
      Title: Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    9. G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2.
      Title: G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2.
    10. G6b-B expression is highly restricted to peripheral CD4+ T cells and up-regulated by the IL-4-induced STAT6 pathway, suggesting that G6b-B is involved in regulation of the immune response by CD4+ T cell-mediated and IL-4 induced regulatory mechanisms.
      Title: G6b-B cell surface inhibitory receptor expression is highly restricted to CD4+ T-cells and induced by interleukin-4-activated STAT6 pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    Associated conditions

    Description Tests
    Thrombocytopenia, anemia, and myelofibrosis
    MedGen: C4479504 OMIM: 617441 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC142279, MGC142281

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    involved_in blood coagulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in integrin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in megakaryocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in megakaryocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in megakaryocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in platelet formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    megakaryocyte and platelet inhibitory receptor G6b
    Names
    immunoglobulin receptor
    protein G6b

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_029044.2 RefSeqGene

      Range
      5030..8371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1003

    mRNA and Protein(s)

    1. NM_025260.4 → NP_079536.2  megakaryocyte and platelet inhibitory receptor G6b isoform G6b-A precursor

      See identical proteins and their annotated locations for NP_079536.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains 6 coding exons and encodes isoform G6b-A, which is a transmembrane protein.
      Source sequence(s)
      AJ292259, AK092392, AL662899, BC113719
      Consensus CDS
      CCDS34406.1
      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6, B0V023
      Related
      ENSP00000364967.3, ENST00000375809.7
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 217
      G6B; G6B family

    2. NM_138272.3 → NP_612116.1  megakaryocyte and platelet inhibitory receptor G6b isoform G6b-B precursor

      See identical proteins and their annotated locations for NP_612116.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the first 19 nt of coding exon 5 as compared to transcript variant 1. As a result, variant 2 encodes an isoform (G6b-B), which has a different C-terminus than isoform G6b-A. Isoform G6b-B is a transmembrane protein and contains two immunoreceptor tyrosine-based inhibitory motifs (ITIM).
      Source sequence(s)
      AJ292260, AK092392, AL662899, BC113719
      Consensus CDS
      CCDS4715.1
      UniProtKB/Swiss-Prot
      A2BEZ1, A2BEZ2, A2BEZ3, A2BEZ4, A2BEZ5, B0UXC4, B0UXC7, B0UXC8, B0V024, B0V026, O95866, Q14CK2, Q96A86, Q96A87, Q96A88, Q96A89, Q96A90, Q96A91
      UniProtKB/TrEMBL
      A0A0G2JJG8
      Related
      ENSP00000497720.1, ENST00000649779.1
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 241
      G6B; G6B family

    3. NM_138273.3 → NP_612117.1  megakaryocyte and platelet inhibitory receptor G6b isoform G6b-C precursor

      See identical proteins and their annotated locations for NP_612117.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks coding exon 3 as compared to transcript variant 1. As a result, variant 3 encodes an isoform (G6b-C), which has a different C-terminus than isoform G6b-A. Isoform G6b-C is a soluble, secreted protein containing 2 immunoreceptor tyrosine-based inhibitory motifs (ITIM).
      Source sequence(s)
      AL662899
      Consensus CDS
      CCDS4716.1
      UniProtKB/TrEMBL
      A0A140T9V1
      Related
      ENSP00000364963.2, ENST00000375805.6
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 217
      G6B; G6B family

    4. NM_138274.3 → NP_612118.1  megakaryocyte and platelet inhibitory receptor G6b isoform G6b-D precursor

      See identical proteins and their annotated locations for NP_612118.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks coding exons 3 and 4 as compared to transcript variant 1. As a result, variant 4 encodes an isoform (G6b-D), which has the same N- and C-termini, but lacks an internal 44 aa region as compared to isoform G6b-A. Isoform G6b-D is a soluble, secreted protein.
      Source sequence(s)
      AL662899
      Consensus CDS
      CCDS4717.1
      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
      Related
      ENSP00000364962.2, ENST00000375804.6
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 142
      G6B; G6B family

    5. NM_138275.3 → NP_612119.1  megakaryocyte and platelet inhibitory receptor G6b isoform G6b-E precursor

      See identical proteins and their annotated locations for NP_612119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks coding exons 3, 4, and the first 19 nt of coding exon 5 as compared to transcript variant 1. As a result, variant 5 encodes an isoform (G6b-E), which has a different C-terminus than isoform G6b-A. Isoform G6b-E is a soluble, secreted protein containing 2 immunoreceptor tyrosine-based inhibitory motifs (ITIM).
      Source sequence(s)
      AL662899
      Consensus CDS
      CCDS34405.1
      UniProtKB/TrEMBL
      A0A140T9V1
      Related
      ENSP00000364972.3, ENST00000375814.7
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 197
      G6B; G6B family

    6. NM_138277.3 → NP_612121.1  megakaryocyte and platelet inhibitory receptor G6b isoform G6b-G precursor

      See identical proteins and their annotated locations for NP_612121.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) retains the intervening sequence between coding exons 5 and 6 as compared to transcript variant 1. As a result, variant 7 encodes an isoform (G6b-G), which has a different C-terminus than isoform G6b-A. Isoform G6b-G is a transmembrane protein.
      Source sequence(s)
      AL662899
      Consensus CDS
      CCDS34407.1
      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
      Related
      ENSP00000364968.4, ENST00000375810.8
      Conserved Domains (1) summary
      pfam15096
      Location:20 → 210
      G6B; G6B family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31720296..31726714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011333.2 → XP_016866822.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3197747..3204002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329917.1 → XP_054185892.1  megakaryocyte and platelet inhibitory receptor G6b isoform X4

    2. XM_054329916.1 → XP_054185891.1  megakaryocyte and platelet inhibitory receptor G6b isoform X3

    3. XM_054329915.1 → XP_054185890.1  megakaryocyte and platelet inhibitory receptor G6b isoform X2

    4. XM_054329919.1 → XP_054185894.1  megakaryocyte and platelet inhibitory receptor G6b isoform X6

    5. XM_054329920.1 → XP_054185895.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    6. XM_054329918.1 → XP_054185893.1  megakaryocyte and platelet inhibitory receptor G6b isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2967905..2974476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330409.1 → XP_054186384.1  megakaryocyte and platelet inhibitory receptor G6b isoform X9

    2. XM_054330408.1 → XP_054186383.1  megakaryocyte and platelet inhibitory receptor G6b isoform X8

    3. XM_054330407.1 → XP_054186382.1  megakaryocyte and platelet inhibitory receptor G6b isoform X7

    4. XM_054330411.1 → XP_054186386.1  megakaryocyte and platelet inhibitory receptor G6b isoform X11

    5. XM_054330412.1 → XP_054186387.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    6. XM_054330410.1 → XP_054186385.1  megakaryocyte and platelet inhibitory receptor G6b isoform X10

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      3028419..3031761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3062171..3068589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330905.1 → XP_054186880.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    2. XM_054330900.1 → XP_054186875.1  megakaryocyte and platelet inhibitory receptor G6b isoform X12

    3. XM_054330904.1 → XP_054186879.1  megakaryocyte and platelet inhibitory receptor G6b isoform X16

    4. XM_054330902.1 → XP_054186877.1  megakaryocyte and platelet inhibitory receptor G6b isoform X14

    5. XM_054330901.1 → XP_054186876.1  megakaryocyte and platelet inhibitory receptor G6b isoform X13

    6. XM_054330903.1 → XP_054186878.1  megakaryocyte and platelet inhibitory receptor G6b isoform X15

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2979184..2982525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331182.1 → XP_054187157.1  megakaryocyte and platelet inhibitory receptor G6b isoform X17

    2. XM_054331183.1 → XP_054187158.1  megakaryocyte and platelet inhibitory receptor G6b isoform X18

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3019592..3026010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331425.1 → XP_054187400.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    2. XM_054331420.1 → XP_054187395.1  megakaryocyte and platelet inhibitory receptor G6b isoform X19

    3. XM_054331424.1 → XP_054187399.1  megakaryocyte and platelet inhibitory receptor G6b isoform X23

    4. XM_054331422.1 → XP_054187397.1  megakaryocyte and platelet inhibitory receptor G6b isoform X21

    5. XM_054331421.1 → XP_054187396.1  megakaryocyte and platelet inhibitory receptor G6b isoform X20

    6. XM_054331423.1 → XP_054187398.1  megakaryocyte and platelet inhibitory receptor G6b isoform X22

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31573330..31579747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356478.1 → XP_054212453.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    2. XM_054356473.1 → XP_054212448.1  megakaryocyte and platelet inhibitory receptor G6b isoform X24

    3. XM_054356477.1 → XP_054212452.1  megakaryocyte and platelet inhibitory receptor G6b isoform X28

    4. XM_054356475.1 → XP_054212450.1  megakaryocyte and platelet inhibitory receptor G6b isoform X26

    5. XM_054356474.1 → XP_054212449.1  megakaryocyte and platelet inhibitory receptor G6b isoform X25

    6. XM_054356476.1 → XP_054212451.1  megakaryocyte and platelet inhibitory receptor G6b isoform X27

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138276.1: Suppressed sequence

      Description
      NM_138276.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95866.1 GenPept UniProtKB/Swiss-Prot:O95866

    Gene LinkOut

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

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