ENSG00000196092


Homo sapiens

Features
Gene ID: ENSG00000196092
  
Biological name :PAX5
  
Synonyms : paired box 5 / PAX5 / Q02548
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: p13.2
Gene start: 36833275
Gene end: 37034185
  
Corresponding Affymetrix probe sets: 206802_at (Human Genome U133 Plus 2.0 Array)   221969_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429291
Ensembl peptide - ENSP00000429197
Ensembl peptide - ENSP00000429359
Ensembl peptide - ENSP00000431038
Ensembl peptide - ENSP00000430773
Ensembl peptide - ENSP00000429637
Ensembl peptide - ENSP00000429404
Ensembl peptide - ENSP00000350844
Ensembl peptide - ENSP00000367071
Ensembl peptide - ENSP00000367078
Ensembl peptide - ENSP00000367083
Ensembl peptide - ENSP00000367084
Ensembl peptide - ENSP00000404687
Ensembl peptide - ENSP00000412188
Ensembl peptide - ENSP00000428670
NCBI entrez gene - 5079     See in Manteia.
OMIM - 167414
RefSeq - NM_001280554
RefSeq - NM_001280547
RefSeq - NM_001280548
RefSeq - NM_001280549
RefSeq - NM_001280550
RefSeq - NM_001280551
RefSeq - NM_001280552
RefSeq - NM_001280553
RefSeq - NM_001280555
RefSeq - NM_001280556
RefSeq - NM_016734
RefSeq - XM_005251481
RefSeq - XM_011517896
RefSeq - XM_011517897
RefSeq Peptide - NP_001267479
RefSeq Peptide - NP_001267480
RefSeq Peptide - NP_001267481
RefSeq Peptide - NP_001267482
RefSeq Peptide - NP_001267483
RefSeq Peptide - NP_001267484
RefSeq Peptide - NP_001267485
RefSeq Peptide - NP_001267477
RefSeq Peptide - NP_057953
RefSeq Peptide - NP_001267476
RefSeq Peptide - NP_001267478
swissprot - C0KTE2
swissprot - Q02548
swissprot - E7ES87
swissprot - E7ERW5
swissprot - E7ERK2
swissprot - E7EQT0
swissprot - H0YB47
Ensembl - ENSG00000196092
  
Related genetic diseases (OMIM): 615545 - {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545

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
 pax5ENSDARG00000037383Danio rerio
 PAX5ENSGALG00000016431Gallus gallus
 Pax5ENSMUSG00000014030Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PAX2 / Q02962 / paired box 2ENSG0000007589163
PAX8 / Q06710 / paired box 8ENSG0000012561859
PAX3 / P23760 / paired box 3ENSG0000013590338
PAX7 / P23759 / paired box 7ENSG0000000970938
PAX1 / P15863 / paired box 1ENSG0000012581337
PAX6 / P26367 / paired box 6ENSG0000000737237
PAX9 / P55771 / paired box 9ENSG0000019880732
PAX4 / O43316 / paired box 4ENSG0000010633129


Protein motifs (from Interpro)
Interpro ID Name
 IPR001523  Paired domain
 IPR009057  Homeobox-like domain superfamily
 IPR022130  Paired-box protein 2 C-terminal
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 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:0007275 multicellular organism development TAS
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0009887 animal organ morphogenesis TAS
 biological_processGO:0021670 lateral ventricle development IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030534 adult behavior IEA
 biological_processGO:0035914 skeletal muscle cell differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IEA
 biological_processGO:0050855 regulation of B cell receptor signaling pathway TAS
 biological_processGO:0051573 negative regulation of histone H3-K9 methylation IEA
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
RUNX1 regulates transcription of genes involved in BCR signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000067955 CBFB / Q13951 / core-binding factor beta subunit  / reaction / complex
 ENSG00000159216 RUNX1 / Q01196 / runt related transcription factor 1  / reaction / complex






 

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