MPIG6B
entrez
80739
canonical
uniprot
O95866
canonical
ensembl
ENSG00000204420
resolver
ensembl
ENSG00000206396
resolver
ensembl
ENSG00000224393
resolver
ensembl
ENSG00000228090
resolver
ensembl
ENSG00000230060
resolver
ensembl
ENSG00000231003
resolver
ensembl
ENSG00000237459
resolver
ensp
ENSP00000364962
resolver
ensp
ENSP00000364963
resolver
ensp
ENSP00000364967
resolver
ensp
ENSP00000364968
resolver
ensp
ENSP00000364972
resolver
ensp
ENSP00000497720
resolver
genesymbol
C6orf25
resolver
genesymbol
MPIG6B
resolver
genesymbol_syn
C6orf25
resolver
genesymbol_syn
G6B
resolver
genesymbol_syn
G6B-B
resolver
hgnc
HGNC:13937
resolver
uniprot
A2BEZ1
resolver
uniprot
A2BEZ2
resolver
uniprot
A2BEZ3
resolver
uniprot
A2BEZ4
resolver
uniprot
A2BEZ5
resolver
uniprot
B0UXC4
resolver
uniprot
B0UXC7
resolver
uniprot
B0UXC8
resolver
uniprot
B0V023
resolver
uniprot
B0V024
resolver
uniprot
B0V026
resolver
uniprot
Q14CK2
resolver
uniprot
Q96A86
resolver
uniprot
Q96A87
resolver
uniprot
Q96A88
resolver
uniprot
Q96A89
resolver
uniprot
Q96A90
resolver
uniprot
Q96A91
resolver
uniprot_entry
B0V023_HUMAN
resolver
uniprot_entry
G6B_HUMAN
resolver
uniprot_sec
A2BEZ1
resolver
uniprot_sec
A2BEZ2
resolver
uniprot_sec
A2BEZ3
resolver
uniprot_sec
A2BEZ4
resolver
uniprot_sec
A2BEZ5
resolver
uniprot_sec
B0UXC4
resolver
uniprot_sec
B0UXC7
resolver
uniprot_sec
B0UXC8
resolver
uniprot_sec
B0V024
resolver
uniprot_sec
B0V026
resolver
uniprot_sec
Q14CK2
resolver
uniprot_sec
Q96A86
resolver
uniprot_sec
Q96A87
resolver
uniprot_sec
Q96A88
resolver
uniprot_sec
Q96A89
resolver
uniprot_sec
Q96A90
resolver
uniprot_sec
Q96A91
resolver
amino_acid_sequence
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:12665801, ECO:0000269|PubMed:17311996, ECO:0000269|PubMed:27743390}.; 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. {ECO:0000305|PubMed:11544253}.
uniprot
proteins
mass_dalton
26163
uniprot
proteins
mutagenesis
MUTAGEN 211; /note="Y->F: Abolishes the inhibitory effect against ligand-induced activation of PLCG2 by CLEC1B and GP6:FCER1G; when associated with F-237."; /evidence="ECO:0000269|PubMed:18955485"; MUTAGEN 211; /note="Y->F: Loss of tyrosine phosphorylation and loss of interaction with PTPN6 and PTPN11."; /evidence="ECO:0000269|PubMed:11544253"; MUTAGEN 237; /note="Y->F: Abolishes the inhibitory effect against ligand-induced activation of PLCG2 by CLEC1B and GP6:FCER1G; when associated with F-237."; /evidence="ECO:0000269|PubMed:18955485"; MUTAGEN 237; /note="Y->F: Reduced level of tyrosine phosphorylation and interaction with PTPN6 and PTPN11."; /evidence="ECO:0000269|PubMed:11544253
uniprot
proteins
post_translational_modification
PTM: All isoforms are N-glycosylated. {ECO:0000269|PubMed:11544253, ECO:0000269|PubMed:23112346}.; PTM: Isoform E is O-glycosylated. {ECO:0000269|PubMed:11544253}.; PTM: Phosphorylated. {ECO:0000269|PubMed:11544253, ECO:0000269|PubMed:23112346}.
uniprot
proteins
pubmed
11544253
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14656967
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15848171
uniprot
proteins
pubmed
17311996
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18955485
uniprot
proteins
pubmed
23112346
uniprot
proteins
pubmed
27743390
uniprot
proteins
sequence_length
241
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform E]: Endoplasmic reticulum {ECO:0000269|PubMed:11544253}. Golgi apparatus {ECO:0000269|PubMed:11544253}.; SUBCELLULAR LOCATION: [Isoform D]: Endoplasmic reticulum {ECO:0000269|PubMed:11544253}. Golgi apparatus {ECO:0000269|PubMed:11544253}.; SUBCELLULAR LOCATION: [Isoform B]: Cell membrane {ECO:0000269|PubMed:11544253}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform A]: Cell membrane {ECO:0000269|PubMed:11544253}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins