ENSG00000204420
Homo sapiens | |
Features
| Gene ID: | ENSG00000204420 | | | | | Biological name : | MPIG6B | | | | | Synonyms : | megakaryocyte and platelet inhibitory receptor G6b / MPIG6B / O95866 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | p21.33 | | Gene start: | 31718594 | | Gene end: | 31726714 | | | | | Corresponding Affymetrix probe sets: | 221342_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000364972
Ensembl peptide - ENSP00000364968
Ensembl peptide - ENSP00000419306
Ensembl peptide - ENSP00000420355
Ensembl peptide - ENSP00000364962
Ensembl peptide - ENSP00000364963
Ensembl peptide - ENSP00000364964
Ensembl peptide - ENSP00000364967
NCBI entrez gene - 80739
See in Manteia.
OMIM - 606520
RefSeq - XM_017011332
RefSeq - NM_025260
RefSeq - NM_138272
RefSeq - NM_138273
RefSeq - NM_138274
RefSeq - NM_138275
RefSeq - NM_138277
RefSeq - XM_011514920
RefSeq - XM_011514921
RefSeq - XM_017011331
RefSeq Peptide - NP_079536
RefSeq Peptide - NP_612118
RefSeq Peptide - NP_612119
RefSeq Peptide - NP_612121
RefSeq Peptide - NP_612116
RefSeq Peptide - NP_612117
swissprot - B7ZLJ5
swissprot - F8WDG3
swissprot - O95866
swissprot - B0V023
Ensembl - ENSG00000204420
| | | | | Related genetic diseases (OMIM): | 617441 - ?Thrombocytopenia, anemia, and myelofibrosis, 617441 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
| | HP:0001873 | Thrombocytopenia | |
Show
| | HP:0001903 | Anemia | |
Show
| | HP:0004823 | anisopoikilocytosis | |
Show
|
Interacting proteins (from Reactome)
| ENSG00000111679 | PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6 | / reaction / complex | | ENSG00000179295 | PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11 | / reaction / complex |
0 s.
|
