No CSI details found for gene ID: 2304
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: 1239993768
Symbol: FOXE1_HUMAN
Name: Forkhead box protein E1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9052737
Title: The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.
PubMed ID: 9052737
PubMed ID: 9169137
Title: FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.
PubMed ID: 9169137
PubMed ID: 10403172
Title: Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2).
PubMed ID: 10403172
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 9697705
Title: Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.
PubMed ID: 9697705
DOI: 10.1038/1294
PubMed ID: 21177256
Title: MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.
PubMed ID: 21177256
DOI: 10.1093/hmg/ddq547
PubMed ID: 25381600
Title: Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).
PubMed ID: 25381600
PubMed ID: 12165566
Title: A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
PubMed ID: 12165566
PubMed ID: 16882747
Title: A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.
PubMed ID: 16882747
DOI: 10.1210/jc.2006-0405
PubMed ID: 20094846
Title: Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.
PubMed ID: 20094846
PubMed ID: 20484477
Title: Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.
PubMed ID: 20484477
DOI: 10.1210/jc.2010-0275
PubMed ID: 24219130
Title: A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.
PubMed ID: 24219130
Sequence Information:
- Length: 373
- Mass: 38076
- Checksum: D201EAF05572FCF0
- Sequence:
MTAESGPPPP QPEVLATVKE ERGETAAGAG VPGEATGRGA GGRRRKRPLQ RGKPPYSYIA LIAMAIAHAP ERRLTLGGIY KFITERFPFY RDNPKKWQNS IRHNLTLNDC FLKIPREAGR PGKGNYWALD PNAEDMFESG SFLRRRKRFK RSDLSTYPAY MHDAAAAAAA AAAAAAAAAI FPGAVPAARP PYPGAVYAGY APPSLAAPPP VYYPAASPGP CRVFGLVPER PLSPELGPAP SGPGGSCAFA SAGAPATTTG YQPAGCTGAR PANPSAYAAA YAGPDGAYPQ GAGSAIFAAA GRLAGPASPP AGGSSGGVET TVDFYGRTSP GQFGALGACY NPGGQLGGAS AGAYHARHAA AYPGGIDRFV SAM
Details Unavailable
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{
"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": []
}
}