ENSG00000110777


Homo sapiens

Features
Gene ID: ENSG00000110777
  
Biological name :POU2AF1
  
Synonyms : POU2AF1 / POU class 2 associating factor 1 / Q16633
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.1
Gene start: 111352252
Gene end: 111455630
  
Corresponding Affymetrix probe sets: 1569675_at (Human Genome U133 Plus 2.0 Array)   205267_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433527
Ensembl peptide - ENSP00000376786
NCBI entrez gene - 5450     See in Manteia.
OMIM - 601206
RefSeq - XM_017017932
RefSeq - NM_006235
RefSeq - XM_005271593
RefSeq - XM_005271594
RefSeq - XM_006718859
RefSeq Peptide - NP_006226
swissprot - Q16633
swissprot - E9PKH4
Ensembl - ENSG00000110777
  
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
 CT573342.2ENSDARG00000104312Danio rerio
 POU2AF1ENSGALG00000006809Gallus gallus
 Q64693ENSMUSG00000032053Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR015389  POU, class 2, associating factor 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 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:0006959 humoral immune response TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IMP
 molecular_functionGO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003712 transcription coregulator activity TAS
 molecular_functionGO:0003713 transcription coactivator activity TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: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: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:0002608 Celiac disease 
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 HP:0002613 Biliary cirrhosis 
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 HP:0002908 Conjugated hyperbilirubinemia 
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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: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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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