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

DOI: 10.1007/s002510050312

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

Title: Exposing the human nude phenotype.

PubMed ID: 10206641

DOI: 10.1038/18997

PubMed ID: 21507891

Title: FOXN1 mutation abrogates prenatal T-cell development in humans.

PubMed ID: 21507891

DOI: 10.1136/jmg.2011.089532

PubMed ID: 25173801

Title: A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

PubMed ID: 25173801

DOI: 10.1016/j.clim.2014.08.005

PubMed ID: 23874334

Title: FOXN1: a master regulator gene of thymic epithelial development program.

PubMed ID: 23874334

DOI: 10.3389/fimmu.2013.00187

PubMed ID: 24432845

Title: FOXN1 in organ development and human diseases.

PubMed ID: 24432845

DOI: 10.3109/08830185.2013.870171

PubMed ID: 20978268

Title: First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

PubMed ID: 20978268

DOI: 10.1182/blood-2010-06-292490

PubMed ID: 28636882

Title: FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.

PubMed ID: 28636882

DOI: 10.1016/j.gene.2017.06.033

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

DOI: 10.1016/j.ajhg.2019.07.014

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
 
                
                    {
    "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": []
    }
}