ENSG00000140968
Homo sapiens | |
Features
| Gene ID: | ENSG00000140968 | | | | | Biological name : | IRF8 | | | | | Synonyms : | interferon regulatory factor 8 / IRF8 / Q02556 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 16 | | Strand: | 1 | | Band: | q24.1 | | Gene start: | 85898803 | | Gene end: | 85922609 | | | | | Corresponding Affymetrix probe sets: | 204057_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000458047
Ensembl peptide - ENSP00000456395
Ensembl peptide - ENSP00000456992
Ensembl peptide - ENSP00000268638
Ensembl peptide - ENSP00000455048
Ensembl peptide - ENSP00000455452
Ensembl peptide - ENSP00000455760
Ensembl peptide - ENSP00000455784
Ensembl peptide - ENSP00000455816
NCBI entrez gene - 3394
See in Manteia.
OMIM - 601565
RefSeq - XM_017023199
RefSeq - NM_002163
RefSeq Peptide - NP_002154
swissprot - H3BQH6
swissprot - H3BQK3
swissprot - H3BRT4
swissprot - H3BT31
swissprot - H3BVC2
swissprot - H3BNX4
swissprot - Q02556
swissprot - H3BQF9
swissprot - H3BPS5
Ensembl - ENSG00000140968
| | | | | Related genetic diseases (OMIM): | 226990 - Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 | | | 614893 - Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 |
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)
| IPR001346 | Interferon regulatory factor DNA-binding domain | | IPR008984 | SMAD/FHA domain superfamily | | IPR017855 | SMAD-like domain superfamily | | IPR019471 | Interferon regulatory factor-3 | | IPR019817 | Interferon regulatory factor, conserved site | | IPR036388 | Winged helix-like DNA-binding domain superfamily | | IPR036390 | Winged helix DNA-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
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: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:0000246 | Sinusitis | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0001945 | Fever | |
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| | HP:0002090 | Pneumonia | |
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| | HP:0002110 | Bronchiectasis | |
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| | HP:0002716 | Lymphadenopathy | |
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| | HP:0002719 | Recurrent infections | |
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| | HP:0002721 | Immunodeficiency | |
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| | HP:0010978 | Abnormality of immune system physiology | "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790] |
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Interacting proteins (from Reactome)
No match
0 s.
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