Human Gene MPIG6B (ENST00000375809.7) from GENCODE V44
  Description: Homo sapiens megakaryocyte and platelet inhibitory receptor G6b (MPIG6B), transcript variant 1, mRNA. (from RefSeq NM_025260)
RefSeq Summary (NM_025260): 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].
Gencode Transcript: ENST00000375809.7
Gencode Gene: ENSG00000204420.10
Transcript (Including UTRs)
   Position: hg38 chr6:31,723,373-31,726,714 Size: 3,342 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr6:31,723,384-31,725,043 Size: 1,660 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,723,373-31,726,714)mRNA (may differ from genome)Protein (237 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsLynx
MalacardsMGIneXtProtOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: G6B_HUMAN
DESCRIPTION: RecName: Full=Protein G6b; Flags: Precursor;
FUNCTION: Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. Appears to operate in a calcium-independent manner. Isoform B is a putative inhibitory receptor. Isoform A may be its activating counterpart.
SUBUNIT: Interacts with PTPN6 and PTPN11. Binds to heparin.
SUBCELLULAR LOCATION: Isoform E: Endoplasmic reticulum. Golgi apparatus.
SUBCELLULAR LOCATION: Isoform D: Endoplasmic reticulum. Golgi apparatus.
SUBCELLULAR LOCATION: Isoform B: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform A: Cell membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: 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. Expressed in platelets.
PTM: All isoforms are N-glycosylated.
PTM: Isoform E is O-glycosylated.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MPIG6B
Diseases sorted by gene-association score: thrombocytopenia, anemia, and myelofibrosis* (969), gray platelet syndrome (6), paraneoplastic pemphigus (6)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.39 RPKM in Whole Blood
Total median expression: 34.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -422.401671-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003599 - Ig_sub

ModBase Predicted Comparative 3D Structure on O95866
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008201 heparin binding

Biological Process:
GO:0007229 integrin-mediated signaling pathway
GO:0007596 blood coagulation
GO:0009968 negative regulation of signal transduction
GO:0030168 platelet activation
GO:0030218 erythrocyte differentiation
GO:0030219 megakaryocyte differentiation
GO:0030220 platelet formation
GO:0035855 megakaryocyte development

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC113719 - Homo sapiens chromosome 6 open reading frame 25, mRNA (cDNA clone MGC:142279 IMAGE:8322771), complete cds.
BC113721 - Homo sapiens chromosome 6 open reading frame 25, mRNA (cDNA clone MGC:142281 IMAGE:8322773), complete cds.
BC143850 - Homo sapiens chromosome 6 open reading frame 25, mRNA (cDNA clone MGC:177383 IMAGE:9052366), complete cds.
AK092392 - Homo sapiens cDNA FLJ35073 fis, clone PLACE6000630.
AX747518 - Sequence 1043 from Patent EP1308459.
HQ258117 - Synthetic construct Homo sapiens clone IMAGE:100072426 chromosome 6 open reading frame 25 (C6orf25), transcript variant 7 (C6orf25) gene, encodes complete protein.
KJ899646 - Synthetic construct Homo sapiens clone ccsbBroadEn_09040 C6orf25 gene, encodes complete protein.
BC111842 - Synthetic construct Homo sapiens clone IMAGE:40080852, MGC:133406 C6orf25 protein (C6orf25) mRNA, encodes complete protein.
AB464091 - Synthetic construct DNA, clone: pF1KB7202, Homo sapiens G6B gene for Protein G6b, without stop codon, in Flexi system.
AJ292259 - Homo sapiens mRNA for G6b-A protein (G6B gene), isoform A.
AJ292260 - Homo sapiens mRNA for G6b-B protein (G6B gene), isoform B.
AJ292261 - Homo sapiens mRNA for G6b-C protein (G6B gene), isoform C.
AJ292262 - Homo sapiens mRNA for G6b-D protein (G6B gene), isoform D.
AJ292263 - Homo sapiens mRNA for G6b-E protein (G6B gene), isoform E.
AJ292264 - Homo sapiens mRNA for G6b-F protein (G6B gene), isoform F.
AJ292265 - Homo sapiens mRNA for G6b-G protein (G6B gene), isoform G.
JD077087 - Sequence 58111 from Patent EP1572962.
JD065116 - Sequence 46140 from Patent EP1572962.
JD138606 - Sequence 119630 from Patent EP1572962.
JD207865 - Sequence 188889 from Patent EP1572962.
JD096541 - Sequence 77565 from Patent EP1572962.
JD151021 - Sequence 132045 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95866 (Reactome details) participates in the following event(s):

R-HSA-5684169 G6B binds PTPN6,PTPN11
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A2BEZ1, A2BEZ2, A2BEZ3, A2BEZ4, A2BEZ5, B0UXC4, B0UXC7, B0UXC8, B0V024, B0V026, C6orf25, ENST00000375809.1, ENST00000375809.2, ENST00000375809.3, ENST00000375809.4, ENST00000375809.5, ENST00000375809.6, G6B, G6B_HUMAN, NM_025260, O95866, Q14CK2, Q96A86, Q96A87, Q96A88, Q96A89, Q96A90, Q96A91, uc003nwk.1, uc003nwk.2, uc003nwk.3, uc003nwk.4
UCSC ID: ENST00000375809.7
RefSeq Accession: NM_025260
Protein: O95866 (aka G6B_HUMAN)
CCDS: CCDS4715.1, CCDS34406.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.