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

    Gene ID: 80739, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_025260.4NP_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:20217
      G6B; G6B family
    2. NM_138272.3NP_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:20241
      G6B; G6B family
    3. NM_138273.3NP_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:20217
      G6B; G6B family
    4. NM_138274.3NP_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:20142
      G6B; G6B family
    5. NM_138275.3NP_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:20197
      G6B; G6B family
    6. NM_138277.3NP_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:20210
      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_017011333.2XP_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_054329917.1XP_054185892.1  megakaryocyte and platelet inhibitory receptor G6b isoform X4

      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
    2. XM_054329916.1XP_054185891.1  megakaryocyte and platelet inhibitory receptor G6b isoform X3

      UniProtKB/TrEMBL
      A0A0G2JJG8
    3. XM_054329915.1XP_054185890.1  megakaryocyte and platelet inhibitory receptor G6b isoform X2

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

      UniProtKB/TrEMBL
      A0A140T9V1
    5. XM_054329920.1XP_054185895.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    6. XM_054329918.1XP_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_054330409.1XP_054186384.1  megakaryocyte and platelet inhibitory receptor G6b isoform X9

      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
    2. XM_054330408.1XP_054186383.1  megakaryocyte and platelet inhibitory receptor G6b isoform X8

      UniProtKB/TrEMBL
      A0A0G2JJG8
    3. XM_054330407.1XP_054186382.1  megakaryocyte and platelet inhibitory receptor G6b isoform X7

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

      UniProtKB/TrEMBL
      A0A140T9V1
    5. XM_054330412.1XP_054186387.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

    6. XM_054330410.1XP_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_054330905.1XP_054186880.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

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

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

      UniProtKB/TrEMBL
      A0A140T9V1
    4. XM_054330902.1XP_054186877.1  megakaryocyte and platelet inhibitory receptor G6b isoform X14

      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
    5. XM_054330901.1XP_054186876.1  megakaryocyte and platelet inhibitory receptor G6b isoform X13

      UniProtKB/TrEMBL
      A0A0G2JJG8
    6. XM_054330903.1XP_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_054331182.1XP_054187157.1  megakaryocyte and platelet inhibitory receptor G6b isoform X17

    2. XM_054331183.1XP_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_054331425.1XP_054187400.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

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

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

      UniProtKB/TrEMBL
      A0A140T9V1
    4. XM_054331422.1XP_054187397.1  megakaryocyte and platelet inhibitory receptor G6b isoform X21

      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
    5. XM_054331421.1XP_054187396.1  megakaryocyte and platelet inhibitory receptor G6b isoform X20

      UniProtKB/TrEMBL
      A0A0G2JJG8
    6. XM_054331423.1XP_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_054356478.1XP_054212453.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

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

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

      UniProtKB/TrEMBL
      A0A140T9V1
    4. XM_054356475.1XP_054212450.1  megakaryocyte and platelet inhibitory receptor G6b isoform X26

      UniProtKB/TrEMBL
      A0A140T9L8, A0A1U9X7F6
    5. XM_054356474.1XP_054212449.1  megakaryocyte and platelet inhibitory receptor G6b isoform X25

      UniProtKB/TrEMBL
      A0A0G2JJG8
    6. XM_054356476.1XP_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.