FOXE1 - forkhead box E1 Gene

Also Known as TTF2; FOXE2; HFKH4; HFKL5; NMTC4; TITF2; TTF-2; FKHL15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2304

About FOXE1

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:97,853,226-97,856,717 (from NCBI)

This gene has 1 transcript (splice variant), 168 orthologues, 42 paralogues and is associated with 7 phenotypes.

Summary

This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]

FOXE1 Products (1)

mRNA	Protein	Name
NM_004473.4	NP_004464.2	forkhead box protein E1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	9697705	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	24219130	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	12165566	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27852061	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9697705	GOA
enables sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	12165566	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chordate pharynx development	IEP IEP: Inferred from expression pattern	15494458	GOA
involved in hard palate development	IMP IMP: Inferred from mutant phenotype	12165566	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9697705	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	24219130	GOA
involved in regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	12165566	GOA
involved in soft palate development	IMP IMP: Inferred from mutant phenotype	12165566	GOA
involved in thymus development	IEP IEP: Inferred from expression pattern	15494458	GOA
involved in thyroid gland development	IEP IEP: Inferred from expression pattern	15494458	GOA
involved in thyroid gland development	IMP IMP: Inferred from mutant phenotype	9697705	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	9697705	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXE1 Protein Structure

Forkhead

0
100
200
300
373 a.a.

Protein Preferred Names	Protein Names
forkhead box protein E1	HNF-3/fork head-like protein 5

FOXE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FOXE1	O00358	ELK1	Homo sapiens	P19419	Array	27852061
Intra	FOXE1	O00358	ELK1	Homo sapiens	P19419	Anti Tag CoIP	27852061

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate	Bamforth-Lazarus Syndrome Bamforth Syndrome Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome Hypothyroidism-Cleft Palate Syndrome BLS Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
Thyroid Cancer, Nonmedullary, 4	NMTC4 Thyroid Cancer, Non-Medullary, 4 Cancer, Thyroid, Nonmedullary, Type 4
Familial Papillary Or Follicular Thyroid Carcinoma	Fnmtc Familial Pure Nonmedullary Thyroid Carcinoma Familial Nonmedullary Thyroid Gland Carcinoma
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Athyreosis
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Orofacial Cleft 7 Zlotogora-Ogur Syndrome CLPED1 Ectodermal Dysplasia, Margarita Island Type Ed4 Cleft Lip-Palate-Ectodermal Dysplasia Syndrome Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate Ectodermal Dysplasia 4 Ectodermal Dysplasia Margarita Type Ectodermal Dysplasia, Type 4 Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly Margarita Type Of Ectodermal Dysplasia Zlotogora-Zilberman-Tenenbaum Syndrome Ectd4 Ectodermal Dysplasia 4, Hair/Nail Type EDMI Ectodermal Dysplasia Type 4 Margarita Island Ectodermal Dysplasia Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate Non-Syndromic Orofacial Cleft 7 OFC7 Non-Syndromic Cleft Lip/Palate 7 Non-Syndromic Cleft Lip With Or Without Cleft Palate 7
Thyroid Malformation
Differentiated Thyroid Carcinoma	Papillary Or Follicular Thyroid Carcinoma Well-Differentiated Thyroid Carcinoma Differentiated Thyroid Gland Carcinoma
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid Dysgenesis CHNG2 Thyroid Hypoplasia Thyroid Hemiagenesis Thyroid Agenesis Athyreotic Hypothyroidism Rtsh Thyrotropin Resistance Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia Congenital Nongoitrous Hypothyroidism 2 Thyroid, Ectopic Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Hypothyroidism, Athyreotic Thyrotropin Resistance To Thyrotropin Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia Hypothyroidism, Congenital, Non-Goitrous, 2 Congenital Hypothyroidism Due To Thyroid Dysgenesis Thyroid-Stimulating Hormone Resistance Thyroid Ectopic Ectopic Thyroid Hypothyroidism, Congenital, Nongoitrous, 3 Thyroid Hormone Resistance Syndrome Hypothyroidism, Congenital, Nongoitrous, 1
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Neonatal Diabetes Mellitus With Congenital Hypothyroidism Ndh Syndrome NDH Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Dicer1 Syndrome	Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome Ppb Familial Tumor Susceptibility Syndrome Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Dicer1-Related Pleuropulmonary Blastoma Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome Ppbftds Doid:0081063
Hypothyroidism, Congenital, Nongoitrous, 1	Tsh Resistance CHNG1 Hypothyroidism Due To Tsh Receptor Mutations Thyrotropin Resistance Thyroid-Stimulating Hormone Rtsh Hypothyroidism Due To Unresponsiveness To Thyrotropin Congenital Nongoitrous Hypothyroidism 1 Thyroid-Stimulating Hormone, Resistance To Hypothyroidism, Nonautoimmune Hypothyroidism, Congenital, Due To Tsh Resistance Hypothyroidism, Congenital, Non-Goitrous, 1 Congenital Hypothyroidism Due To Tsh Resistance Non-Autoimmune Hypothyroidism Thyroid-Stimulating Hormone Resistance Hypothyroidism, Congenital, Nongoitrous, Type 1 Hypothyroidism, Congenital, Nongoitrous, 3 Thyroid Hormone Resistance Syndrome
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Multinodular Goiter
Popliteal Pterygium Syndrome	PPS Faciogenitopopliteal Syndrome Facio-Genito-Popliteal Syndrome Popliteal Web Syndrome Autosomal Dominant Popliteal Pterygium Syndrome Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies Popliteal Pterygium Syndrome 1 Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies Popliteal Pterygium
Orofacial Cleft	Cleft, Orofacial
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05047	FOXE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21574	Foxe1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28092	Foxe1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FOXE1	VGNC	VGNC:72697
Bos taurus	FOXE1	VGNC	VGNC:29083
Felis catus	FOXE1	VGNC	VGNC:102929
Rattus norvegicus	FOXE1	RGD	RGD:621723
Mus musculus	FOXE1	MGD	MGI:1353500
Others	FOXE1	NCBI