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Aliases for MPIG6B Gene

Aliases for MPIG6B Gene

  • Megakaryocyte And Platelet Inhibitory Receptor G6b 2 3 3 5
  • Protein G6b 3 4
  • C6orf25 3 4
  • Chromosome 6 Open Reading Frame 25 2
  • Immunoglobulin Receptor 3
  • G6b-B 3
  • THAMY 3
  • G6B-B 4
  • NG31 3
  • G6b 3
  • G6B 4

External Ids for MPIG6B Gene

Previous HGNC Symbols for MPIG6B Gene

  • C6orf25

Previous GeneCards Identifiers for MPIG6B Gene

  • GC06P031902
  • GC06P031947
  • GC06P032025

Summaries for MPIG6B Gene

Entrez Gene Summary for MPIG6B Gene

  • 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]

GeneCards Summary for MPIG6B Gene

MPIG6B (Megakaryocyte And Platelet Inhibitory Receptor G6b) is a Protein Coding gene. Diseases associated with MPIG6B include Thrombocytopenia, Anemia, And Myelofibrosis and Thrombocytopenia. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and G beta-gamma signalling through PI3Kgamma.

UniProtKB/Swiss-Prot for MPIG6B Gene

  • Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801).

  • Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B.

Gene Wiki entry for MPIG6B Gene

Additional gene information for MPIG6B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPIG6B Gene

Genomics for MPIG6B Gene

GeneHancer (GH) Regulatory Elements for MPIG6B Gene

Promoters and enhancers for MPIG6B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J031723 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 650.7 +4.9 4946 0.5 ZBTB48 IKZF1 CBFA2T3 ZBTB33 MPIG6B LY6G6C DDAH2
GH06J031720 Promoter/Enhancer 0.9 EPDnew ENCODE 650.7 +1.8 1805 0.2 CTBP1 KLF4 MPIG6B LY6G6C LY6G5C PSORS1C3
GH06J031717 Enhancer 0.9 ENCODE 650.7 -0.2 -155 2 HDGF PKNOX1 ATF1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF48 MPIG6B MICA LY6G5C BAG6 LSM2 GPANK1 TCF19 HLA-DRB1 DDX39B ENSG00000199332
GH06J031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +107.3 107282 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032216 ATF6B DDX39B LY6G5B BAG6 LSM2
GH06J031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.7 +18.9 18861 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 MSH5-SAPCD1 DDX39B LY6G5B ATF6B LSM2 SKIV2L CSNK2B GPANK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPIG6B on UCSC Golden Path with GeneCards custom track

Genomic Locations for MPIG6B Gene

Genomic Locations for MPIG6B Gene
chr6:31,718,594-31,726,714
(GRCh38/hg38)
Size:
8,121 bases
Orientation:
Plus strand
chr6:31,686,371-31,694,491
(GRCh37/hg19)
Size:
8,121 bases
Orientation:
Plus strand

Genomic View for MPIG6B Gene

Genes around MPIG6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPIG6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPIG6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for MPIG6B Gene

  • Protein details for MPIG6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95866-G6B_HUMAN
    Recommended name:
    Megakaryocyte and platelet inhibitory receptor G6b
    Protein Accession:
    O95866
    Secondary Accessions:
    • A2BEZ1
    • A2BEZ2
    • A2BEZ3
    • A2BEZ4
    • A2BEZ5
    • B0UXC4
    • B0UXC7
    • B0UXC8
    • B0V024
    • B0V026
    • Q14CK2
    • Q96A86
    • Q96A87
    • Q96A88
    • Q96A89
    • Q96A90
    • Q96A91

    Protein attributes for MPIG6B Gene

    Size:
    241 amino acids
    Molecular mass:
    26163 Da
    Quaternary structure:
    • Interacts (via ITIM motif) with PTPN6 and PTPN11 (PubMed:11544253, PubMed:23112346). Binds to heparin (PubMed:15848171).

    Alternative splice isoforms for MPIG6B Gene

neXtProt entry for MPIG6B Gene

Post-translational modifications for MPIG6B Gene

No data available for DME Specific Peptides for MPIG6B Gene

Domains & Families for MPIG6B Gene

Gene Families for MPIG6B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for MPIG6B Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MPIG6B Gene

Graphical View of Domain Structure for InterPro Entry

O95866

UniProtKB/Swiss-Prot:

G6B_HUMAN :
  • Isoform B, displayed in this entry, is the only one of the isoforms to contain both a transmembrane region and 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. The 2 ITIM motifs of isoform B are required for the inhibition of CLEC1B and GP6:FCER1G signaling and platelet activation.
Domain:
  • Isoform B, displayed in this entry, is the only one of the isoforms to contain both a transmembrane region and 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. The 2 ITIM motifs of isoform B are required for the inhibition of CLEC1B and GP6:FCER1G signaling and platelet activation.
genes like me logo Genes that share domains with MPIG6B: view

Function for MPIG6B Gene

Molecular function for MPIG6B Gene

UniProtKB/Swiss-Prot Function:
Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801).
UniProtKB/Swiss-Prot Function:
Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B.

Phenotypes From GWAS Catalog for MPIG6B Gene

Gene Ontology (GO) - Molecular Function for MPIG6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23112346
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with MPIG6B: view
genes like me logo Genes that share phenotypes with MPIG6B: view

Human Phenotype Ontology for MPIG6B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPIG6B Gene

MGI Knock Outs for MPIG6B:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MPIG6B Gene

Localization for MPIG6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPIG6B Gene

Isoform E: Endoplasmic reticulum. Golgi apparatus.
Isoform D: Endoplasmic reticulum. Golgi apparatus.
Isoform B: Cell membrane; Single-pass type I membrane protein.
Isoform A: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPIG6B gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
extracellular 3
endoplasmic reticulum 3
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPIG6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPIG6B: view

Pathways & Interactions for MPIG6B Gene

genes like me logo Genes that share pathways with MPIG6B: view

Pathways by source for MPIG6B Gene

Gene Ontology (GO) - Biological Process for MPIG6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007229 integrin-mediated signaling pathway IEA,ISS --
GO:0007596 blood coagulation ISS,IEA --
GO:0009968 negative regulation of signal transduction IDA 18955485
GO:0030168 platelet activation TAS --
GO:0030218 erythrocyte differentiation IMP 27743390
genes like me logo Genes that share ontologies with MPIG6B: view

No data available for SIGNOR curated interactions for MPIG6B Gene

Drugs & Compounds for MPIG6B Gene

(3) Drugs for MPIG6B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for MPIG6B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPIG6B: view

Transcripts for MPIG6B Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPIG6B Gene

No ASD Table

Relevant External Links for MPIG6B Gene

GeneLoc Exon Structure for
MPIG6B
ECgene alternative splicing isoforms for
MPIG6B

Expression for MPIG6B Gene

NURSA nuclear receptor signaling pathways regulating expression of MPIG6B Gene:

MPIG6B

mRNA Expression by UniProt/SwissProt for MPIG6B Gene:

O95866-G6B_HUMAN
Tissue specificity: Expressed in platelets. Expressed in a restricted set of hematopoietic cell lines including the erythroleukemia cell line K-562 and the T-cell leukemia cell lines MOLT-4 and Jurkat. Not detected in the monocyte-like cell line U-937, the B-cell-like cell line Raji, the fibroblast cell lines TK and HeLa, or the natural killer cell lines NKL, NK 62 and YT.

Evidence on tissue expression from TISSUES for MPIG6B Gene

  • Blood(4.4)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPIG6B Gene

Orthologs for MPIG6B Gene

This gene was present in the common ancestor of mammals.

Orthologs for MPIG6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf25 33
  • 99.59 (n)
C6orf25 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C12H6orf25 33
  • 81.68 (n)
C6orf25 34
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia G6b 33
  • 77.92 (n)
AU023871 34
  • 71 (a)
OneToOne
Mpig6b 16
rat
(Rattus norvegicus)
Mammalia G6b 33
  • 77.87 (n)
cow
(Bos Taurus)
Mammalia C6ORF25 34
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C6orf25 34
  • 56 (a)
OneToOne
Species where no ortholog for MPIG6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MPIG6B Gene

ENSEMBL:
Gene Tree for MPIG6B (if available)
TreeFam:
Gene Tree for MPIG6B (if available)

Paralogs for MPIG6B Gene

No data available for Paralogs for MPIG6B Gene

Variants for MPIG6B Gene

Sequence variations from dbSNP and Humsavar for MPIG6B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1060505057 pathogenic, Thrombocytopenia, anemia, and myelofibrosis 31,723,901(+) C/A coding_sequence_variant, stop_gained
rs1000182864 -- 31,725,154(+) C/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1001126146 -- 31,722,750(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001157311 -- 31,723,065(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001185679 -- 31,720,088(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MPIG6B Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259

Variation tolerance for MPIG6B Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPIG6B Gene

Human Gene Mutation Database (HGMD)
MPIG6B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPIG6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPIG6B Gene

Disorders for MPIG6B Gene

MalaCards: The human disease database

(5) MalaCards diseases for MPIG6B Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia, anemia, and myelofibrosis
  • thamy
thrombocytopenia
paraneoplastic pemphigus
gray platelet syndrome
  • gps
myelofibrosis
  • myelofibrosis with myeloid metaplasia, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

G6B_HUMAN
  • Thrombocytopenia, anemia, and myelofibrosis (THAMY) [MIM:617441]: An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis. {ECO:0000269 PubMed:27743390}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with MPIG6B: view

No data available for Genatlas for MPIG6B Gene

Publications for MPIG6B Gene

  1. G6b, a novel immunoglobulin superfamily member encoded in the human major histocompatibility complex, interacts with SHP-1 and SHP-2. (PMID: 11544253) de Vet EC … Campbell RD (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia. (PMID: 27743390) Melhem M … Alsmadi O (European journal of haematology 2017) 3 4 58
  3. Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function. (PMID: 23112346) Mazharian A … Senis YA (Science signaling 2012) 3 4 58
  4. G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2. (PMID: 18955485) Mori J … Watson SP (The Journal of biological chemistry 2008) 3 4 58
  5. The novel inhibitory receptor G6B is expressed on the surface of platelets and attenuates platelet function in vitro. (PMID: 17311996) Newland SA … Campbell DR (Blood 2007) 3 4 58

Products for MPIG6B Gene

Sources for MPIG6B Gene

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