ENSG00000109101


Homo sapiens

Features
Gene ID: ENSG00000109101
  
Biological name :FOXN1
  
Synonyms : forkhead box N1 / FOXN1 / O15353
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q11.2
Gene start: 28506243
Gene end: 28538896
  
Corresponding Affymetrix probe sets: 1558687_a_at (Human Genome U133 Plus 2.0 Array)   207683_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000226247
Ensembl peptide - ENSP00000462159
Ensembl peptide - ENSP00000464645
NCBI entrez gene - 8456     See in Manteia.
OMIM - 600838
RefSeq - XM_017025231
RefSeq - NM_003593
RefSeq - XM_017025228
RefSeq - XM_017025229
RefSeq - XM_017025230
RefSeq - XM_005258046
RefSeq - XM_011525358
RefSeq - XM_011525359
RefSeq - XM_011525362
RefSeq - XM_011525367
RefSeq - XM_011525368
RefSeq - XM_011525369
RefSeq - XM_011525370
RefSeq Peptide - NP_003584
swissprot - O15353
swissprot - J3KRT9
Ensembl - ENSG00000109101
  
Related genetic diseases (OMIM): 601705 - T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705

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
 foxn1ENSDARG00000011879Danio rerio
 FOXN1ENSGALG00000043868Gallus gallus
 Foxn1ENSMUSG00000002057Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FOXN4 / Q96NZ1 / forkhead box N4ENSG0000013944529
FOXJ3 / Q9UPW0 / forkhead box J3ENSG0000019881515
FOXN3 / O00409 / forkhead box N3ENSG0000005325415
FOXJ2 / Q9P0K8 / forkhead box J2ENSG0000006597015
FOXK1 / P85037 / forkhead box K1ENSG0000016491614
FOXK2 / Q01167 / forkhead box K2ENSG0000014156813
FOXN2 / P32314 / forkhead box N2ENSG0000017080213
FOXJ1 / Q92949 / forkhead box J1ENSG0000012965412


Protein motifs (from Interpro)
Interpro ID Name
 IPR001766  Fork head domain
 IPR030456  Fork head domain conserved site 2
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0002260 lymphocyte homeostasis IEA
 biological_processGO:0002360 T cell lineage commitment 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 TAS
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006952 defense response TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008544 epidermis development TAS
 biological_processGO:0009887 animal organ morphogenesis TAS
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030216 keratinocyte differentiation IEA
 biological_processGO:0030858 positive regulation of epithelial cell differentiation IDA
 biological_processGO:0033081 regulation of T cell differentiation in thymus IEA
 biological_processGO:0035878 nail development IEA
 biological_processGO:0043029 T cell homeostasis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048514 blood vessel morphogenesis IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0050673 epithelial cell proliferation IEA
 biological_processGO:0051798 positive regulation of hair follicle development IEA
 biological_processGO:0097535 lymphoid lineage cell migration into thymus IEA
 biological_processGO:0097536 thymus epithelium morphogenesis IEA
 biological_processGO:1902232 regulation of positive thymic T cell selection IEA
 cellular_componentGO:0005634 nucleus TAS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001803 Nail pitting 
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 HP:0001807 Nail ridging 
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 HP:0002721 Immunodeficiency 
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 HP:0005352 Severe t-cell immunodeficiency 
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 HP:0005403 Reduced number of T cells 
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 HP:0005597 Congenital alopecia totalis 
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 HP:0008165 Reduced circulating t-helper cells 
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 HP:0008404 Nail dystrophy, variable 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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