• Gene id: 80739

Gene Summary

• Gene Symbol: MPIG6B   Gene   UCSC   Ensembl
• Aliases: C6orf25, G6b, G6b-B, NG31, THAMY
• Gene name: megakaryocyte and platelet inhibitory receptor G6b
• Alternate names: megakaryocyte and platelet inhibitory receptor G6b, immunoglobulin receptor, protein G6b,
• Gene location: 6p21.33 (31720556: 31726709)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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 isofor
• OMIM: 606520

Protein Summary

• Protein general information: O95866  
  • Name: Megakaryocyte and platelet inhibitory receptor G6b (Protein G6b)
  • Length: 241  
  • Mass: 26163
  • 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, th
• Sequence:

  MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVP
  PLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGA
  GLVLGLGALGLVWWLHRRLPPQPIRPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRL
  STADPADASTIYAVVV

• Structural information:
  • Interpro: IPR028070  
  • PDB: 6R0X
  • PDBsum: 6R0X
  • STRING: ENSP00000364964
• Other Databases: GeneCards:  MPIG6B  Malacards:  MPIG6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0007596	blood coagulation	IBA	biological process
GO:0030220	platelet formation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0035855	megakaryocyte development	IBA	biological process
GO:0009968	negative regulation of signal transduction	IDA	biological process
GO:0030219	megakaryocyte differentiation	IMP	biological process
GO:0030218	erythrocyte differentiation	IMP	biological process
GO:0030220	platelet formation	ISS	biological process
GO:0030220	platelet formation	ISS	biological process
GO:0007596	blood coagulation	ISS	biological process
GO:0007229	integrin-mediated signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035855	megakaryocyte development	ISS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030168	platelet activation	TAS	biological process
GO:0030220	platelet formation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881