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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