| Type | Description |
|---|---|
| Definition | megakaryocyte and platelet inhibitory receptor G6b |
| Date | Results | Publications |
|---|---|---|
| 2020-08-29 12:48:00 | Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets. | 32386542 |
| 2020-02-08 11:27:00 | Using platelets from humans and genetically modified mice, we demonstrate that binding of G6b-B to heparan sulfate and multivalent heparin inhibits platelet and megakaryocyte function by inducing downstream signaling via the tyrosine phosphatases Shp1 and Shp2. | 31436532 |
| 2019-08-31 12:59:00 | Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly. | 31276734 |
| 2019-08-03 11:05:00 | Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function. | 29898956 |
| 2017-02-25 12:21:00 | G6B seems to act through an autosomal recessive mode of disease transmission in this family and regarded as the gene responsible for the observed hematological disorder. | 27743390 |
| Type | IDs |
|---|---|
| Synonymous | C6orf25, G6b, G6b-B, NG31, THAMY |
| Gene |
UniProtKB-ID:
G6B_HUMAN,
B0V023_HUMAN
UniprotKB:
O95866,
B0V023
UniParc:
UPI000006E2A7,
UPI000006CF93,
UPI000006DE84,
UPI000006F9C9,
UPI000006FA45,
UPI00000709AA,
UPI0000073923
EMBL:
CR354443,
AJ292260,
AL662899,
AF129756,
AL844216,
CR759787,
AJ292263,
AJ292265,
CH471081,
AL670886,
AJ292259,
AJ292264,
AK092392,
BX248244,
KY500217,
KY500214,
CR936239,
BC113721,
BC113719,
BA000025,
AJ292261,
AJ292262,
KY500218
Ensembl:
ENSG00000237459,
ENSG00000231003,
ENSG00000230060,
ENSG00000204420,
ENSG00000224393,
ENSG00000206396,
ENSG00000228090
KO:
hsa:80739
|
| Nucleutide sequences |
EMBL-CDS:
CAM45770.1,
CAM26094.1,
CAI17816.2,
AAI13720.1,
CAM45769.1,
CAQ07021.1,
AAI13722.1,
CAM26096.1,
CAC83500.1,
CAC83502.1,
EAX03497.1,
CAM26093.1,
EAX03493.1,
CAM26092.1,
EAX03498.1,
CAC83499.1,
CAQ07020.1,
CAI18406.2,
CAI17818.2,
CAQ10107.1,
CAI18412.2,
CAM45767.1,
CAI17814.2,
CAI18408.1,
CAM45768.1,
EAX03494.1,
CAM45771.1,
CAQ08892.1,
CAC83497.1,
CAQ10109.1,
CAQ07017.1,
CAQ08894.1,
CAC83501.1,
CAM26095.1,
CAQ10108.1,
AAD18075.1,
CAC83496.1,
CAI18409.2,
CAQ10105.1,
CAI17813.2,
CAQ08890.1,
CAQ08893.1,
CAC83498.1,
BAB63378.1,
CAI18407.2,
CAI17815.1,
AQY76718.1,
AQY76722.1,
BAG52544.1,
AQY76721.1,
EAX03499.1
Gene_ORFName:
hCG_43731
Ensembl_TRS:
ENST00000455185,
ENST00000383412,
ENST00000415984,
ENST00000447587,
ENST00000457450,
ENST00000445381,
ENST00000444404,
ENST00000425998,
ENST00000649779,
ENST00000428302,
ENST00000437153,
ENST00000440063,
ENST00000435007,
ENST00000411608,
ENST00000383410,
ENST00000375809,
ENST00000426729,
ENST00000400071,
ENST00000375810,
ENST00000431888,
ENST00000457884,
ENST00000375805,
ENST00000415728,
ENST00000375814,
ENST00000422012,
ENST00000451549,
ENST00000449633,
ENST00000436030,
ENST00000400067,
ENST00000417610,
ENST00000433769,
ENST00000375804,
ENST00000383411
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000395801,
ENSP00000392961,
ENSP00000416447,
ENSP00000390821,
ENSP00000372902,
ENSP00000372904,
ENSP00000414824,
ENSP00000364972,
ENSP00000364967,
ENSP00000412747,
ENSP00000394082,
ENSP00000364962,
ENSP00000364963,
ENSP00000390272,
ENSP00000396823,
ENSP00000404519,
ENSP00000408430,
ENSP00000391097,
ENSP00000388484,
ENSP00000382940,
ENSP00000412937,
ENSP00000372903,
ENSP00000398061,
ENSP00000406706,
ENSP00000497720,
ENSP00000415282,
ENSP00000388982,
ENSP00000392917,
ENSP00000401892,
ENSP00000413647,
ENSP00000395279,
ENSP00000382944,
ENSP00000364968
RefSeq:
NP_612117.1,
NP_079536.2,
XP_016866821.1,
NP_612116.1,
NP_612121.1,
XP_016866822.1,
XP_016866819.1,
XP_016866820.1,
XP_011513222.1,
NP_612118.1,
NP_612119.1,
XP_011513223.1
|
| Others |
UniRef100:
UniRef100_O95866,
UniRef100_B0V023
UniRef90:
UniRef90_B0V023,
UniRef90_O95866
UniRef50:
UniRef50_O95866
UniGene:
Hs.247879
CCDS:
CCDS4716.1,
CCDS34405.1,
CCDS34406.1,
CCDS34407.1,
CCDS4717.1,
CCDS4715.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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Ensembl: {{protein.nucleotideEnsembl}} |
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Ensembl: {{protein.proteinEnsembl}} |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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