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

Gene ID: 80739, updated on 1-Apr-2020

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
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

Genomic context

See MPIG6B in Genome Data Viewer
Location:
6p21.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31720557..31726710)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31691121..31694487)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LY6G6F-LY6G6D readthrough Neighboring gene lymphocyte antigen 6 family member G6E Neighboring gene lymphocyte antigen 6 family member G6D Neighboring gene lymphocyte antigen 6 family member G6C Neighboring gene dimethylarginine dimethylaminohydrolase 2 Neighboring gene chloride intracellular channel 1 Neighboring gene Sharpr-MPRA regulatory region 5872

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

Homology

Clone Names

  • MGC142279, MGC142281

Gene Ontology Provided by GOA

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

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)

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/Swiss-Prot
    O95866
    UniProtKB/TrEMBL
    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
    O95866
    UniProtKB/TrEMBL
    B0V023
    Related
    ENSP00000497720.1, ENST00000649779.1
    Conserved Domains (1) summary
    pfam15096
    Location:20241
    G6B; G6B family
  3. NM_138273.2NP_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)
    AJ292261, AK092392, BC113719, BU681844
    Consensus CDS
    CCDS4716.1
    UniProtKB/Swiss-Prot
    O95866
    UniProtKB/TrEMBL
    B0V023
    Related
    ENSP00000364963.2, ENST00000375805.6
    Conserved Domains (1) summary
    pfam15096
    Location:20217
    G6B; G6B family
  4. NM_138274.2NP_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)
    AJ292262, AK092392, BC113719, BU681844
    Consensus CDS
    CCDS4717.1
    UniProtKB/Swiss-Prot
    O95866
    UniProtKB/TrEMBL
    B0V023
    Related
    ENSP00000364962.2, ENST00000375804.6
    Conserved Domains (1) summary
    pfam15096
    Location:20142
    G6B; G6B family
  5. NM_138275.2NP_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)
    AJ292263, AK092392, BC113719, BU681844
    Consensus CDS
    CCDS34405.1
    UniProtKB/Swiss-Prot
    O95866
    UniProtKB/TrEMBL
    B0V023
    Related
    ENSP00000364972.3, ENST00000375814.7
    Conserved Domains (1) summary
    pfam15096
    Location:20197
    G6B; G6B family
  6. NM_138277.2NP_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)
    AJ292265, AK092392, BC113719, BU681844
    Consensus CDS
    CCDS34407.1
    UniProtKB/Swiss-Prot
    O95866
    UniProtKB/TrEMBL
    B0V023
    Related
    ENSP00000364968.4, ENST00000375810.8
    Conserved Domains (1) summary
    pfam15096
    Location:20210
    G6B; G6B family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31720557..31726710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011333.1XP_016866822.1  megakaryocyte and platelet inhibitory receptor G6b isoform X6

  2. XM_011514921.2XP_011513223.1  megakaryocyte and platelet inhibitory receptor G6b isoform X3

    See identical proteins and their annotated locations for XP_011513223.1

    Conserved Domains (1) summary
    pfam15096
    Location:37233
    G6B; G6B family
  3. XM_011514920.2XP_011513222.1  megakaryocyte and platelet inhibitory receptor G6b isoform X2

    See identical proteins and their annotated locations for XP_011513222.1

    Conserved Domains (1) summary
    pfam15096
    Location:37257
    G6B; G6B family
  4. XM_017011330.1XP_016866819.1  megakaryocyte and platelet inhibitory receptor G6b isoform X1

  5. XM_017011332.1XP_016866821.1  megakaryocyte and platelet inhibitory receptor G6b isoform X5

  6. XM_017011331.1XP_016866820.1  megakaryocyte and platelet inhibitory receptor G6b isoform X4

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3200632..3203998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    2971106..2974472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3028390..3031757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3065219..3068585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    2979155..2982521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3022640..3026006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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