ENSG00000128604


Homo sapiens

Features
Gene ID: ENSG00000128604
  
Biological name :IRF5
  
Synonyms : interferon regulatory factor 5 / IRF5 / Q13568
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q32.1
Gene start: 128937612
Gene end: 128950035
  
Corresponding Affymetrix probe sets: 205468_s_at (Human Genome U133 Plus 2.0 Array)   205469_s_at (Human Genome U133 Plus 2.0 Array)   239412_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419056
Ensembl peptide - ENSP00000418534
Ensembl peptide - ENSP00000419149
Ensembl peptide - ENSP00000483292
Ensembl peptide - ENSP00000480058
Ensembl peptide - ENSP00000420274
Ensembl peptide - ENSP00000419950
Ensembl peptide - ENSP00000249375
Ensembl peptide - ENSP00000349770
Ensembl peptide - ENSP00000385352
Ensembl peptide - ENSP00000417454
Ensembl peptide - ENSP00000417770
Ensembl peptide - ENSP00000418037
NCBI entrez gene - 3663     See in Manteia.
OMIM - 607218
RefSeq - XM_011516164
RefSeq - NM_001098629
RefSeq - NM_001098630
RefSeq - NM_001242452
RefSeq - NM_001347928
RefSeq - NM_032643
RefSeq - XM_005250317
RefSeq - XM_006715974
RefSeq - XM_011516158
RefSeq - XM_011516159
RefSeq - XM_011516160
RefSeq - XM_011516161
RefSeq - XM_011516162
RefSeq - XM_011516163
RefSeq - NM_001098627
RefSeq Peptide - NP_001092099
RefSeq Peptide - NP_001092100
RefSeq Peptide - NP_001229381
RefSeq Peptide - NP_001334857
RefSeq Peptide - NP_116032
RefSeq Peptide - NP_001092097
swissprot - Q13568
swissprot - A0A087WWA0
swissprot - C9JB67
swissprot - C9JAU6
swissprot - C9J7M2
swissprot - F8WDH6
swissprot - C9JYP7
Ensembl - ENSG00000128604
  
Related genetic diseases (OMIM): 612245 - {Inflammatory bowel disease 14}, 612245
  612251 - {Systemic lupus erythematosus, susceptibility to, 10}, 612251

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
 irf5ENSDARG00000045681Danio rerio
 IRF5ENSGALG00000039982Gallus gallus
 Irf5ENSMUSG00000029771Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IRF6 / O14896 / interferon regulatory factor 6ENSG0000011759546
IRF4 / Q15306 / interferon regulatory factor 4ENSG0000013726526
IRF8 / Q02556 / interferon regulatory factor 8ENSG0000014096826
IRF7 / Q92985 / interferon regulatory factor 7ENSG0000018550722
IRF3 / Q14653 / interferon regulatory factor 3ENSG0000012645620
IRF9 / Q00978 / interferon regulatory factor 9ENSG0000021392820
IRF2 / P14316 / interferon regulatory factor 2ENSG0000016831018
IRF1 / P10914 / interferon regulatory factor 1ENSG0000012534715


Protein motifs (from Interpro)
Interpro ID Name
 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
 IPR029838  Interferon regulatory factor 5
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway IEA
 biological_processGO:0032494 response to peptidoglycan IDA
 biological_processGO:0032495 response to muramyl dipeptide IDA
 biological_processGO:0032727 positive regulation of interferon-alpha production IC
 biological_processGO:0032728 positive regulation of interferon-beta production IC
 biological_processGO:0032735 positive regulation of interleukin-12 production IC
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060337 type I interferon signaling pathway TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IMP
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA


Pathways (from Reactome)
Pathway description
Interferon gamma signaling
Interferon alpha/beta signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
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 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000670 Carious teeth 
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 HP:0000820 Abnormality of the thyroid gland 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0000953 Hyperpigmentation 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001262 Somnolence 
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001369 Arthritis 
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 HP:0001371 Contractures 
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 HP:0001394 Cirrhosis 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001399 Hepatic failure 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001409 Portal hypertension 
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 HP:0001541 Ascites 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002024 Malabsorption 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002094 Dyspnea 
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 HP:0002113 Pulmonary infiltrates 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002608 Celiac disease 
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 HP:0002613 Biliary cirrhosis 
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 HP:0002797 Osteolysis 
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 HP:0002829 Arthralgia 
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 HP:0002908 Conjugated hyperbilirubinemia 
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 HP:0002960 Autoimmune disease 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003119 Abnormality of lipid metabolism 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003493 Antinuclear antibody positive 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004386 Gastrointestinal inflammatory disorder 
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 HP:0008366 Contractures involving the joints of the feet 
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 HP:0009473 Joint contractures involving the joints of the hand 
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 HP:0011040 Abnormality of the intrahepatic bile duct "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson]
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 HP:0011971 Dermatographic urticaria "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson]
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0030016 Dyspareunia "Recurrent or persistent genital pain associated with sexual intercourse." []
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 HP:0030142 Abnormal bowel sounds "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis." []
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 HP:0100520 Oliguria "Low output of urine, clinically classified as an output below 300-500ml/day." [HPO:sdoelken]
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 HP:0100579 Mucosal telangiectasiae "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken]
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 HP:0100585 Teleangiectasia of the skin 
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 HP:0100735 Hypertensive crisis 
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 HP:0100958 Narrow foramen obturatorium 
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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