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 | / complex / reaction | ENSG00000179295 | PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11 | / complex / reaction |
0 s.
|