ENSG00000165702
Homo sapiens GFI1B binding zinc finger rna polymerase ii factor c h protein regulation dna-templated dna autosomal inheritance ring fyve phd-type -type superfamily gfi- b chromatin organization multicellular organism development cell proliferation
Features Gene ID: ENSG00000165702 Biological name :GFI1B Synonyms : GFI1B / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 9 Strand: 1 Band: q34.13 Gene start: 132944000 Gene end: 132991687 Corresponding Affymetrix probe sets: 1560920_s_at (Human Genome U133 Plus 2.0 Array) 208501_at (Human Genome U133 Plus 2.0 Array) 237403_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000004903038328
See in Manteia .
604383 XM_017015176 XM_006717297 XM_011519068 XM_011519069 XM_011519070 XM_017015175 NM_001135031 NM_004188 NP_001128503 NP_004179 A0A1B0GTD0 Q5VTD9 A0A024R8F3 ENSG00000165702 Related genetic diseases (OMIM): 187900 - Bleeding disorder, platelet-type, 17, 187900
This gene has been taged as a transcription factor by TFT 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 )Protein motifs (from Interpro )Gene Ontology (GO ) nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cellular component organization anatomical structure development nitrogen compound menitrogen compound metabolic process biosynthetic processbiosynthetic process cellular metabolic pcellular metabolic process primary metabolic prprimary metabolic process organic substance meorganic substance metabolic process cellular component ocellular component organization anatomical structureanatomical structure development DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription factor activity protein binding organic cyclic compound binding heterocyclic compound binding ion binding DNA-binding transcription faDNA-binding transcription factor activity protein bindingprotein binding organic cyclic compound bindorganic cyclic compound binding heterocyclic compound bindinheterocyclic compound binding ion bindingion binding cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cell organelle protein-containing complex membrane-enclosed lumen cellcell organelleorganelle protein-containing complexprotein-containing complex membrane-enclosed lumenmembrane-enclosed lumen
Pathways (from Reactome )No match Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal recessive inheritance Genitourinary abnormality Endocrine abnormality Head and neck abnormality Hematological abnormality Abnormality of the cardiovascular system Integument abnormality Immunological abnormality Abnormality of the digestive system Neoplasia Age of onset Phenotypic variability Autosomal rAutosomal recessive inheritance GenitourinaGenitourinary abnormality Endocrine aEndocrine abnormality Head and neHead and neck abnormality HematologicHematological abnormality AbnormalityAbnormality of the cardiovascular system Integument Integument abnormality ImmunologicImmunological abnormality AbnormalityAbnormality of the digestive system NeoplasiaNeoplasia Age of onseAge of onset Phenotypic Phenotypic variability HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show 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:0000140 Menstrual abnormalities
Show HP:0000421 Epistaxis
Show HP:0000978 Ecchymoses
Show HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show HP:0001873 Thrombocytopenia
Show HP:0002239 Gastrointestinal hemorrhage
Show HP:0002863 Myelodysplasia
Show HP:0003010 Prolonged bleeding time
Show HP:0003337 Abnormal prothrombin consumption
Show HP:0003593 Early onset
Show HP:0003828 Variable expressivity
Show HP:0011974 Myelofibrosis "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
Show HP:0012526 Absence of alpha granules "A lack of platelet alpha granules." [HPO:probinson, pmid:3877532]
Show
Interacting proteins (from Reactome )No match
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