No CSI details found for gene ID: 8456
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 1102969575
Symbol: FOXN1_HUMAN
Name: Forkhead box protein N1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9321431
Title: Characterization of mouse and human nude genes.
PubMed ID: 9321431
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 10206641
PubMed ID: 21507891
Title: FOXN1 mutation abrogates prenatal T-cell development in humans.
PubMed ID: 21507891
PubMed ID: 25173801
Title: A novel mutation in FOXN1 resulting in SCID: a case report and literature review.
PubMed ID: 25173801
PubMed ID: 23874334
Title: FOXN1: a master regulator gene of thymic epithelial development program.
PubMed ID: 23874334
PubMed ID: 24432845
Title: FOXN1 in organ development and human diseases.
PubMed ID: 24432845
PubMed ID: 20978268
Title: First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.
PubMed ID: 20978268
PubMed ID: 28636882
Title: FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.
PubMed ID: 28636882
PubMed ID: 31447097
Title: Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis.
PubMed ID: 31447097
PubMed ID: 31566583
Title: FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.
PubMed ID: 31566583
DOI: 10.1172/jci127565
Sequence Information:
- Length: 648
- Mass: 68925
- Checksum: F32F4C95627E60DE
- Sequence:
MVSLPPPQSD VTLPGPTRLE GERQGDLMQA PGLPGSPAPQ SKHAGFSCSS FVSDGPPERT PSLPPHSPRI ASPGPEQVQG HCPAGPGPGP FRLSPSDKYP GFGFEEAAAS SPGRFLKGSH APFHPYKRPF HEDVFPEAET TLALKGHSFK TPGPLEAFEE IPVDVAEAEA FLPGFSAEAW CNGLPYPSQE HGPQVLGSEV KVKPPVLESG AGMFCYQPPL QHMYCSSQPP FHQYSPGGGS YPIPYLGSSH YQYQRMAPQA STDGHQPLFP KPIYSYSILI FMALKNSKTG SLPVSEIYNF MTEHFPYFKT APDGWKNSVR HNLSLNKCFE KVENKSGSSS RKGCLWALNP AKIDKMQEEL QKWKRKDPIA VRKSMAKPEE LDSLIGDKRE KLGSPLLGCP PPGLSGSGPI RPLAPPAGLS PPLHSLHPAP GPIPGKNPLQ DLLMGHTPSC YGQTYLHLSP GLAPPGPPQP LFPQPDGHLE LRAQPGTPQD SPLPAHTPPS HSAKLLAEPS PARTMHDTLL PDGDLGTDLD AINPSLTDFD FQGNLWEQLK DDSLALDPLV LVTSSPTSSS MPPPQPPPHC FPPGPCLTET GSGAGDLAAP GSGGSGALGD LHLTTLYSAF MELEPTPPTA PAGPSVYLSP SSKPVALA
Details Unavailable
Detailed CSI data for this gene is not available. You will be redirected to a page with all available raw data in 3 seconds.
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{
"geneID": 8456,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC005726.1"
]
},
"genePos": {
"start": 28506348,
"end": 28538900
},
"orientation": false,
"symbol": "FOXN1",
"created": {
"$date": {
"$numberLong": "1738333349527"
}
},
"crossReference": {
"enseGeneID": "ENSG00000109101",
"enseRnaID": [
"ENST00000579795.6"
],
"enseProtID": [
"ENSP00000464645.1"
]
},
"chrom": {
"pos": "17",
"type": 1,
"loc": "17q11.2"
},
"desc": "forkhead box N1",
"geneType": 5,
"mim": [
{
"id": 600838,
"relation": 0
},
{
"id": 601705,
"relation": 1,
"cui": 1866426
}
],
"ontology": [
{
"id": "GO:0000976",
"term": "transcription cis-regulatory region binding",
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0001228",
"term": "DNA-binding transcription activator activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
32296183
],
"cat": 0
},
{
"id": "GO:0001942",
"term": "hair follicle development",
"cat": 1
},
{
"id": "GO:0002360",
"term": "T cell lineage commitment",
"cat": 1
},
{
"id": "GO:0006357",
"term": "regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0006952",
"term": "defense response",
"pubMed": [
7969402
],
"cat": 1
},
{
"id": "GO:0008544",
"term": "epidermis development",
"pubMed": [
10767081
],
"cat": 1
},
{
"id": "GO:0009887",
"term": "animal organ morphogenesis",
"pubMed": [
7969402
],
"cat": 1
},
{
"id": "GO:0030216",
"term": "keratinocyte differentiation",
"cat": 1
},
{
"id": "GO:0030858",
"term": "positive regulation of epithelial cell differentiation",
"pubMed": [
24383669
],
"cat": 1
},
{
"id": "GO:0035878",
"term": "nail development",
"cat": 1
},
{
"id": "GO:0043029",
"term": "T cell homeostasis",
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0048514",
"term": "blood vessel morphogenesis",
"cat": 1
},
{
"id": "GO:0051798",
"term": "positive regulation of hair follicle development",
"cat": 1
},
{
"id": "GO:0097535",
"term": "lymphoid lineage cell migration into thymus",
"cat": 1
},
{
"id": "GO:0097536",
"term": "thymus epithelium morphogenesis",
"cat": 1
},
{
"id": "GO:1902232",
"term": "regulation of positive thymic T cell selection",
"cat": 1
},
{
"id": "GO:0000785",
"term": "chromatin",
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"cat": 2
}
],
"protein": [
{
"symbol": "FOXN1_HUMAN",
"name": "Forkhead box protein N1",
"accession": [
"O15353",
"B2R9Q7",
"O15352"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"601705",
"618806",
"242700",
"242700",
"600838",
"601705",
"618806"
],
"EMBL": [
"Y11741",
"Y11742",
"Y11743",
"Y11744",
"Y11745",
"Y11746",
"Y11739",
"AK313878",
"CH471159"
],
"CCDS": [
"CCDS11232.1"
],
"RefSeq": [
"NP_003584.2",
"XP_005258103.1"
],
"PDB": [
"5OCN",
"6EL8"
],
"PDBsum": [
"5OCN",
"6EL8"
],
"AlphaFoldDB": [
"O15353"
],
"SMR": [
"O15353"
],
"BioGRID": [
"114034"
],
"IntAct": [
"O15353"
],
"MINT": [
"O15353"
],
"STRING": [
"9606.ENSP00000226247"
],
"iPTMnet": [
"O15353"
],
"PhosphoSitePlus": [
"O15353"
],
"BioMuta": [
"FOXN1"
],
"jPOST": [
"O15353"
],
"MassIVE": [
"O15353"
],
"PaxDb": [
"9606-ENSP00000226247"
],
"PeptideAtlas": [
"O15353"
],
"ProteomicsDB": [
"48606"
],
"Antibodypedia": [
"14085"
],
"DNASU": [
"8456"
],
"Ensembl": [
"ENST00000226247.2",
"ENST00000577936.2",
"ENST00000579795.6"
],
"KEGG": [
"hsa:8456"
],
"MANE-Select": [
"ENST00000579795.6"
],
"UCSC": [
"uc002hbj.4"
],
"AGR": [
"HGNC:12765"
],
"CTD": [
"8456"
],
"DisGeNET": [
"8456"
],
"GeneCards": [
"FOXN1"
],
"HGNC": [
"HGNC:12765"
],
"HPA": [
"ENSG00000109101"
],
"MalaCards": [
"FOXN1"
],
"neXtProt": [
"NX_O15353"
],
"OpenTargets": [
"ENSG00000109101"
],
"Orphanet": [
"169095"
],
"PharmGKB": [
"PA37368"
],
"VEuPathDB": [
"HostDB:ENSG00000109101"
],
"eggNOG": [
"KOG2294"
],
"GeneTree": [
"ENSGT00940000158029"
],
"HOGENOM": [
"CLU_031768_1_0_1"
],
"InParanoid": [
"O15353"
],
"OMA": [
"SHSLCEP"
],
"OrthoDB": [
"5385885at2759"
],
"PhylomeDB": [
"O15353"
],
"TreeFam": [
"TF329867"
],
"PathwayCommons": [
"O15353"
],
"SignaLink": [
"O15353"
],
"SIGNOR": [
"O15353"
],
"BioGRID-ORCS": [
"8456"
],
"ChiTaRS": [
"FOXN1"
],
"GeneWiki": [
"FOXN1"
],
"GenomeRNAi": [
"8456"
],
"Pharos": [
"O15353"
],
"PRO": [
"PR:O15353"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"O15353"
],
"Bgee": [
"ENSG00000109101"
],
"ExpressionAtlas": [
"O15353"
],
"GO": [
"GO:0000785",
"GO:0005634",
"GO:0001228",
"GO:0000981",
"GO:0000976",
"GO:0009887",
"GO:0048514",
"GO:0006952",
"GO:0008544",
"GO:0001942",
"GO:0030216",
"GO:0097535",
"GO:0035878",
"GO:0030858",
"GO:0051798",
"GO:1902232",
"GO:0006357",
"GO:0043029",
"GO:0002360",
"GO:0097536"
],
"CDD": [
"cd20056"
],
"Gene3D": [
"1.10.10.10"
],
"InterPro": [
"IPR047401",
"IPR001766",
"IPR049624",
"IPR030456",
"IPR036388",
"IPR036390"
],
"PANTHER": [
"PTHR46721",
"PTHR46721:SF1"
],
"Pfam": [
"PF00250"
],
"PRINTS": [
"PR00053"
],
"SMART": [
"SM00339"
],
"SUPFAM": [
"SSF46785"
],
"PROSITE": [
"PS00658",
"PS50039"
]
},
"citations": [
{
"title": "Characterization of mouse and human nude genes.",
"pubmedID": "9321431",
"doi": "10.1007\/s002510050312"
},
{
"title": "Complete sequencing and characterization of 21,243 full-length human cDNAs.",
"pubmedID": "14702039",
"doi": "10.1038\/ng1285"
},
{
"title": "Exposing the human nude phenotype.",
"pubmedID": "10206641",
"doi": "10.1038\/18997"
},
{
"title": "FOXN1 mutation abrogates prenatal T-cell development in humans.",
"pubmedID": "21507891",
"doi": "10.1136\/jmg.2011.089532"
},
{
"title": "A novel mutation in FOXN1 resulting in SCID: a case report and literature review.",
"pubmedID": "25173801",
"doi": "10.1016\/j.clim.2014.08.005"
},
{
"title": "FOXN1: a master regulator gene of thymic epithelial development program.",
"pubmedID": "23874334",
"doi": "10.3389\/fimmu.2013.00187"
},
{
"title": "FOXN1 in organ development and human diseases.",
"pubmedID": "24432845",
"doi": "10.3109\/08830185.2013.870171"
},
{
"title": "First use of thymus transplantation therapy for FOXN1 deficiency (nude\/SCID): a report of 2 cases.",
"pubmedID": "20978268",
"doi": "10.1182\/blood-2010-06-292490"
},
{
"title": "FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.",
"pubmedID": "28636882",
"doi": "10.1016\/j.gene.2017.06.033"
},
{
"title": "Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis.",
"pubmedID": "31447097",
"doi": "10.1016\/j.ajhg.2019.07.014"
},
{
"title": "FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.",
"pubmedID": "31566583",
"doi": "10.1172\/jci127565"
}
],
"sequence": {
"length": 648,
"mass": 68925,
"checksum": "F32F4C95627E60DE",
"modified": {
"$date": {
"$numberLong": "883612800000"
}
},
"version": 1,
"sequence": "MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA"
},
"existence": 0,
"relevance": 1,
"proteinID": 1102969575
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}