ENSG00000165702


Homo sapiens

Features
Gene ID: ENSG00000165702
  
Biological name :GFI1B
  
Synonyms : GFI1B / growth factor independent 1B transcriptional repressor / Q5VTD9
  
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 - ENSP00000490303
Ensembl peptide - ENSP00000361195
Ensembl peptide - ENSP00000361196
Ensembl peptide - ENSP00000489646
Ensembl peptide - ENSP00000344782
NCBI entrez gene - 8328     See in Manteia.
OMIM - 604383
RefSeq - XM_017015176
RefSeq - XM_006717297
RefSeq - XM_011519068
RefSeq - XM_011519069
RefSeq - XM_011519070
RefSeq - XM_017015175
RefSeq - NM_001135031
RefSeq - NM_004188
RefSeq Peptide - NP_001128503
RefSeq Peptide - NP_004179
swissprot - A0A1B0GTD0
swissprot - Q5VTD9
swissprot - A0A024R8F3
Ensembl - 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)
Ortholog nameID Species
 gfi1bENSDARG00000079947Danio rerio
 GFI1BENSGALG00000003478Gallus gallus
 Gfi1bENSMUSG00000026815Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GFI1 / Q99684 / growth factor independent 1 transcriptional repressorENSG0000016267660
FEZF1 / A0PJY2 / FEZ family zinc finger 1ENSG0000012861030
FEZF2 / Q8TBJ5 / FEZ family zinc finger 2ENSG0000015326630
ZNF8 / P17098 / zinc finger protein 8ENSG0000027812926


Protein motifs (from Interpro)
Interpro ID Name
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR013087  Zinc finger C2H2-type
 IPR036236  Zinc finger C2H2 superfamily
 IPR037044  Zinc finger protein Gfi-1b


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008283 cell proliferation TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0016363 nuclear matrix IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IPI
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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 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]
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 HP:0000140 Menstrual abnormalities 
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 HP:0000421 Epistaxis 
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 HP:0000978 Ecchymoses 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002863 Myelodysplasia 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003337 Abnormal prothrombin consumption 
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 HP:0003593 Early onset 
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 HP:0003828 Variable expressivity 
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 HP:0011974 Myelofibrosis "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
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 HP:0012526 Absence of alpha granules "A lack of platelet alpha granules." [HPO:probinson, pmid:3877532]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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