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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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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

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