ENSG00000162676
 Homo sapiens | |
Features
| Gene ID: | ENSG00000162676 | | | | | Biological name : | GFI1 | | | | | Synonyms : | GFI1 / growth factor independent 1 transcriptional repressor / Q99684 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p22.1 | | Gene start: | 92474762 | | Gene end: | 92486876 | | | | | Corresponding Affymetrix probe sets: | 206589_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000294702 Ensembl peptide - ENSP00000359357 Ensembl peptide - ENSP00000399719 NCBI entrez gene - 2672
See in Manteia.
OMIM - 600871 RefSeq - XM_011541246 RefSeq - NM_001127215 RefSeq - NM_001127216 RefSeq - NM_005263 RefSeq - XM_005270749 RefSeq - XM_011541245 RefSeq Peptide - NP_001120687 RefSeq Peptide - NP_001120688 RefSeq Peptide - NP_005254 swissprot - Q99684 Ensembl - ENSG00000162676
| | | | | Related genetic diseases (OMIM): | 607847 - ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 | | | 613107 - ?Neutropenia, severe congenital 2, autosomal dominant, 613107 |
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)
Pathways (from Reactome) No match
Phenotype (from MGI, Zfin or HPO)
| 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:0001875 | Neutropenia | |
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| | HP:0004808 | Acute myeloid leukemia | "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators] |
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| | HP:0005549 | Severe congenital neutropenia | |
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| | HP:0010976 | Reduction in B cell number | "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] |
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| | HP:0012311 | Monocytosis | "An increased number of circulating `monocytes` (CL:0000576)." [HPO:probinson] |
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Interacting proteins (from Reactome) No match
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