ENSG00000128573


Homo sapiens

Features
Gene ID: ENSG00000128573
  
Biological name :FOXP2
  
Synonyms : forkhead box P2 / FOXP2 / O15409
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q31.1
Gene start: 114086327
Gene end: 114693772
  
Corresponding Affymetrix probe sets: 1552902_a_at (Human Genome U133 Plus 2.0 Array)   1555352_at (Human Genome U133 Plus 2.0 Array)   1555516_at (Human Genome U133 Plus 2.0 Array)   1555647_a_at (Human Genome U133 Plus 2.0 Array)   1555648_at (Human Genome U133 Plus 2.0 Array)   1562139_a_at (Human Genome U133 Plus 2.0 Array)   1564876_s_at (Human Genome U133 Plus 2.0 Array)   235201_at (Human Genome U133 Plus 2.0 Array)   243278_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000395552
Ensembl peptide - ENSP00000405470
Ensembl peptide - ENSP00000492698
Ensembl peptide - ENSP00000489457
Ensembl peptide - ENSP00000489229
Ensembl peptide - ENSP00000489135
Ensembl peptide - ENSP00000489073
Ensembl peptide - ENSP00000488954
Ensembl peptide - ENSP00000488944
Ensembl peptide - ENSP00000418100
Ensembl peptide - ENSP00000416825
Ensembl peptide - ENSP00000409826
Ensembl peptide - ENSP00000265436
Ensembl peptide - ENSP00000353367
Ensembl peptide - ENSP00000367482
Ensembl peptide - ENSP00000375084
Ensembl peptide - ENSP00000377129
Ensembl peptide - ENSP00000377130
Ensembl peptide - ENSP00000377132
Ensembl peptide - ENSP00000377133
Ensembl peptide - ENSP00000377135
Ensembl peptide - ENSP00000385069
Ensembl peptide - ENSP00000386200
NCBI entrez gene - 93986     See in Manteia.
OMIM - 605317
RefSeq - XM_017012801
RefSeq - NM_001172766
RefSeq - NM_001172767
RefSeq - NM_014491
RefSeq - NM_148898
RefSeq - NM_148899
RefSeq - NM_148900
RefSeq Peptide - NP_001166237
RefSeq Peptide - NP_001166238
RefSeq Peptide - NP_055306
RefSeq Peptide - NP_683696
RefSeq Peptide - NP_683697
RefSeq Peptide - NP_683698
swissprot - Q75MZ5
swissprot - Q8N6B5
swissprot - X5D2H2
swissprot - C9JQP8
swissprot - A8MUV4
swissprot - A8MTU2
swissprot - A0A1W2PS63
swissprot - A0A0U1RQY3
swissprot - A0A0U1RQR8
swissprot - A0A0U1RQE6
swissprot - A0A0U1RQM2
swissprot - A0A0U1RQE0
swissprot - A0A024R752
swissprot - F8WDL6
swissprot - O15409
swissprot - Q0PRL4
Ensembl - ENSG00000128573
  
Related genetic diseases (OMIM): 602081 - Speech-language disorder-1, 602081

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
 FOXP2ENSGALG00000009424Gallus gallus
 Foxp2ENSMUSG00000029563Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FOXP1 / Q9H334 / forkhead box P1ENSG0000011486160
FOXP4 / Q8IVH2 / forkhead box P4ENSG0000013716657
FOXP3 / Q9BZS1 / forkhead box P3ENSG0000004976822
FOXD3 / Q9UJU5 / forkhead box D3ENSG0000018714010
FOXD2 / O60548 / forkhead box D2ENSG0000018656410
FOXD1 / Q16676 / forkhead box D1ENSG000002514939
FOXG1 / P55316 / forkhead box G1ENSG000001761659
FOXF2 / Q12947 / forkhead box F2ENSG000001372739
FOXD4 / Q12950 / forkhead box D4ENSG000001701228
Q9NU39 / FOXD4L1 / forkhead box D4 like 1ENSG000001844928
Q3SYB3 / FOXD4L6 / forkhead box D4 like 6ENSG000002735148
Q6VB84 / FOXD4L3 / forkhead box D4 like 3ENSG000001875598
FOXQ1 / Q9C009 / forkhead box Q1ENSG000001643798
Q5VV16 / FOXD4L5 / forkhead box D4 like 5ENSG000002047798
Q8WXT5 / FOXD4L4 / forkhead box D4 like 4ENSG000001846598
FOXE3 / Q13461 / forkhead box E3ENSG000001867908
FOXF1 / Q12946 / forkhead box F1ENSG000001032417
FOXH1 / O75593 / forkhead box H1ENSG000001609737
AC187653.1ENSG000002487677
FOXE1 / O00358 / forkhead box E1ENSG000001789197


Protein motifs (from Interpro)
Interpro ID Name
 IPR001766  Fork head domain
 IPR009091  Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR030456  Fork head domain conserved site 2
 IPR032354  FOXP, coiled-coil domain
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily
 IPR036908  RlpA-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0009653 anatomical structure morphogenesis IBA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0021549 cerebellum development IEA
 biological_processGO:0021757 caudate nucleus development IMP
 biological_processGO:0021758 putamen development IMP
 biological_processGO:0021987 cerebral cortex development IEP
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0040007 growth IEA
 biological_processGO:0042297 vocal learning IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0048286 lung alveolus development IEA
 biological_processGO:0048745 smooth muscle tissue development IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0060013 righting reflex IEA
 biological_processGO:0060501 positive regulation of epithelial cell proliferation involved in lung morphogenesis IEA
 biological_processGO:0098582 innate vocalization behavior IEA
 cellular_componentGO:0005634 nucleus IBA
 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 IBA
 molecular_functionGO:0001078 transcriptional repressor 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 IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0050681 androgen receptor binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000271 Abnormality of the face 
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 HP:0000750 Impaired language development 
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 HP:0002134 Abnormality of the basal ganglia "Abnormality of the basal ganglia, which are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal." [HPO:curators]
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 HP:0002546 Incomprehensible speech 
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 HP:0007301 Oromotor apraxia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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