Details Currently Unavailable
A detailed, interactive page could not be generated for the requested gene. This usually happens when there is no significant expression data (CSI) available for it in our database.
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: 2304
{
"geneID": 2304,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AL499604.9"
]
},
"genePos": {
"start": 4972,
"end": 8463
},
"orientation": true,
"symbol": "FOXE1",
"created": {
"$date": {
"$numberLong": "1738333348810"
}
},
"crossReference": {
"enseGeneID": "ENSG00000178919",
"enseRnaID": [
"ENST00000375123.5"
],
"enseProtID": [
"ENSP00000364265.3"
]
},
"chrom": {
"pos": "9",
"type": 1,
"loc": "9q22.33"
},
"desc": "forkhead box E1",
"geneType": 5,
"mim": [
{
"id": 241850,
"relation": 1,
"cui": 1855794
},
{
"id": 602617,
"relation": 0
}
],
"ontology": [
{
"id": "GO:0000978",
"term": "RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"pubMed": [
24219130
],
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"pubMed": [
12165566,
16882747,
20094846,
20484477,
21177256
],
"cat": 0
},
{
"id": "GO:0003700",
"term": "DNA-binding transcription factor activity",
"pubMed": [
9697705
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
27852061
],
"cat": 0
},
{
"id": "GO:0043565",
"term": "sequence-specific DNA binding",
"pubMed": [
9697705,
24219130
],
"cat": 0
},
{
"id": "GO:0043565",
"term": "sequence-specific DNA binding",
"pubMed": [
12165566,
16882747,
20094846,
20484477,
21177256
],
"cat": 0
},
{
"id": "GO:1990837",
"term": "sequence-specific double-stranded DNA binding",
"pubMed": [
28473536
],
"cat": 0
},
{
"id": "GO:0000122",
"term": "negative regulation of transcription by RNA polymerase II",
"pubMed": [
9169137
],
"cat": 1
},
{
"id": "GO:0006357",
"term": "regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0006357",
"term": "regulation of transcription by RNA polymerase II",
"pubMed": [
24219130
],
"cat": 1
},
{
"id": "GO:0006357",
"term": "regulation of transcription by RNA polymerase II",
"pubMed": [
12165566,
16882747,
20094846,
20484477,
21177256
],
"cat": 1
},
{
"id": "GO:0006590",
"term": "thyroid hormone generation",
"cat": 1
},
{
"id": "GO:0009653",
"term": "anatomical structure morphogenesis",
"cat": 1
},
{
"id": "GO:0009653",
"term": "anatomical structure morphogenesis",
"pubMed": [
9169137
],
"cat": 1
},
{
"id": "GO:0016477",
"term": "cell migration",
"cat": 1
},
{
"id": "GO:0030154",
"term": "cell differentiation",
"cat": 1
},
{
"id": "GO:0030878",
"term": "thyroid gland development",
"pubMed": [
15494458
],
"cat": 1
},
{
"id": "GO:0030878",
"term": "thyroid gland development",
"pubMed": [
9697705
],
"cat": 1
},
{
"id": "GO:0031069",
"term": "hair follicle morphogenesis",
"cat": 1
},
{
"id": "GO:0045893",
"term": "positive regulation of DNA-templated transcription",
"pubMed": [
9697705
],
"cat": 1
},
{
"id": "GO:0048538",
"term": "thymus development",
"pubMed": [
15494458
],
"cat": 1
},
{
"id": "GO:0048562",
"term": "embryonic organ morphogenesis",
"cat": 1
},
{
"id": "GO:0060022",
"term": "hard palate development",
"pubMed": [
12165566
],
"cat": 1
},
{
"id": "GO:0060023",
"term": "soft palate development",
"pubMed": [
12165566
],
"cat": 1
},
{
"id": "GO:0160093",
"term": "chordate pharynx development",
"pubMed": [
15494458
],
"cat": 1
},
{
"id": "GO:1904888",
"term": "cranial skeletal system development",
"cat": 1
},
{
"id": "GO:0000785",
"term": "chromatin",
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
9697705,
21177256
],
"cat": 2
}
],
"protein": [
{
"symbol": "FOXE1_HUMAN",
"name": "Forkhead box protein E1",
"accession": [
"O00358",
"O75765",
"Q5T109",
"Q99526"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"241850",
"616534",
"241850",
"602617",
"616534"
],
"EMBL": [
"X94553",
"U89995",
"Y13386",
"AL499604",
"CH471105"
],
"CCDS": [
"CCDS35078.1"
],
"RefSeq": [
"NP_004464.2"
],
"AlphaFoldDB": [
"O00358"
],
"SMR": [
"O00358"
],
"BioGRID": [
"108593"
],
"IntAct": [
"O00358"
],
"MINT": [
"O00358"
],
"STRING": [
"9606.ENSP00000364265"
],
"iPTMnet": [
"O00358"
],
"PhosphoSitePlus": [
"O00358"
],
"BioMuta": [
"FOXE1"
],
"jPOST": [
"O00358"
],
"MassIVE": [
"O00358"
],
"PaxDb": [
"9606-ENSP00000364265"
],
"PeptideAtlas": [
"O00358"
],
"ProteomicsDB": [
"47861"
],
"Pumba": [
"O00358"
],
"Antibodypedia": [
"28896"
],
"DNASU": [
"2304"
],
"Ensembl": [
"ENST00000375123.5"
],
"KEGG": [
"hsa:2304"
],
"MANE-Select": [
"ENST00000375123.5"
],
"UCSC": [
"uc004axu.4"
],
"AGR": [
"HGNC:3806"
],
"CTD": [
"2304"
],
"DisGeNET": [
"2304"
],
"GeneCards": [
"FOXE1"
],
"HGNC": [
"HGNC:3806"
],
"HPA": [
"ENSG00000178919"
],
"MalaCards": [
"FOXE1"
],
"neXtProt": [
"NX_O00358"
],
"OpenTargets": [
"ENSG00000178919"
],
"Orphanet": [
"95713",
"1226",
"146",
"319487"
],
"PharmGKB": [
"PA28223"
],
"VEuPathDB": [
"HostDB:ENSG00000178919"
],
"eggNOG": [
"KOG2294"
],
"GeneTree": [
"ENSGT00940000162270"
],
"HOGENOM": [
"CLU_023357_0_1_1"
],
"InParanoid": [
"O00358"
],
"OMA": [
"HETPVFS"
],
"OrthoDB": [
"5385885at2759"
],
"PhylomeDB": [
"O00358"
],
"TreeFam": [
"TF316127"
],
"PathwayCommons": [
"O00358"
],
"SignaLink": [
"O00358"
],
"SIGNOR": [
"O00358"
],
"BioGRID-ORCS": [
"2304"
],
"ChiTaRS": [
"FOXE1"
],
"GeneWiki": [
"FOXE1"
],
"GenomeRNAi": [
"2304"
],
"Pharos": [
"O00358"
],
"PRO": [
"PR:O00358"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"O00358"
],
"Bgee": [
"ENSG00000178919"
],
"GO": [
"GO:0000785",
"GO:0005634",
"GO:0003700",
"GO:0000981",
"GO:0000978",
"GO:0043565",
"GO:1990837",
"GO:0009653",
"GO:0030154",
"GO:0016477",
"GO:0160093",
"GO:1904888",
"GO:0048562",
"GO:0031069",
"GO:0060022",
"GO:0045892",
"GO:0000122",
"GO:0045893",
"GO:0006357",
"GO:0060023",
"GO:0048538",
"GO:0030878",
"GO:0006590"
],
"CDD": [
"cd20019"
],
"Gene3D": [
"1.10.10.10"
],
"InterPro": [
"IPR001766",
"IPR050211",
"IPR018122",
"IPR030456",
"IPR036388",
"IPR036390"
],
"PANTHER": [
"PTHR11829",
"PTHR11829:SF368"
],
"Pfam": [
"PF00250"
],
"PRINTS": [
"PR00053"
],
"SMART": [
"SM00339"
],
"SUPFAM": [
"SSF46785"
],
"PROSITE": [
"PS00657",
"PS00658",
"PS50039"
]
},
"citations": [
{
"title": "The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.",
"pubmedID": "9052737",
"doi": "10.1089/dna.1997.16.165"
},
{
"title": "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.",
"pubmedID": "9169137",
"doi": "10.1006/geno.1997.4692"
},
{
"title": "Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2).",
"pubmedID": "10403172",
"doi": "10.1016/s0300-9084(99)80092-3"
},
{
"title": "DNA sequence and analysis of human chromosome 9.",
"pubmedID": "15164053",
"doi": "10.1038/nature02465"
},
{
"title": "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.",
"pubmedID": "9697705",
"doi": "10.1038/1294"
},
{
"title": "MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.",
"pubmedID": "21177256",
"doi": "10.1093/hmg/ddq547"
},
{
"title": "Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).",
"pubmedID": "25381600",
"doi": "10.1007/s12020-014-0470-0"
},
{
"title": "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.",
"pubmedID": "12165566",
"doi": "10.1093/hmg/11.17.2051"
},
{
"title": "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.",
"pubmedID": "16882747",
"doi": "10.1210/jc.2006-0405"
},
{
"title": "Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.",
"pubmedID": "20094846",
"doi": "10.1007/s10528-009-9306-7"
},
{
"title": "Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.",
"pubmedID": "20484477",
"doi": "10.1210/jc.2010-0275"
},
{
"title": "A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.",
"pubmedID": "24219130",
"doi": "10.1089/thy.2013.0417"
}
],
"sequence": {
"length": 373,
"mass": 38076,
"checksum": "D201EAF05572FCF0",
"modified": {
"$date": {
"$numberLong": "1222128000000"
}
},
"version": 3,
"sequence": "MTAESGPPPPQPEVLATVKEERGETAAGAGVPGEATGRGAGGRRRKRPLQRGKPPYSYIALIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPGKGNYWALDPNAEDMFESGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAAAAAAIFPGAVPAARPPYPGAVYAGYAPPSLAAPPPVYYPAASPGPCRVFGLVPERPLSPELGPAPSGPGGSCAFASAGAPATTTGYQPAGCTGARPANPSAYAAAYAGPDGAYPQGAGSAIFAAAGRLAGPASPPAGGSSGGVETTVDFYGRTSPGQFGALGACYNPGGQLGGASAGAYHARHAAAYPGGIDRFVSAM"
},
"existence": 0,
"relevance": 1,
"proteinID": 1239993768
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}