Details Currently Unavailable
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AI-Generated Summary
Disclaimer: This summary is AI-generated based on limited data and may be speculative or contain inaccuracies. Detailed expression analysis for this entry is unavailable.
Raw Database JSON for Gene ID: 8456
{
"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": []
}
}