1. Gene
  2. FOXE1 - forkhead box E1 Gene

FOXE1 - forkhead box E1 Gene

中文名称:叉头盒 E1

种属: Homo sapiens

同用名: TTF2; FOXE2; HFKH4; HFKL5; NMTC4; TITF2; TTF-2; FKHL15

基因 ID: 2304 | 基因类型: protein coding

关于 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.

功能概要

这种无内含子的基因编码一种属于转录因子叉头家族的蛋白质。该家族的成员包含一个保守的 100 个氨基酸的 DNA 结合“叉头”结构域。编码的蛋白质作为甲状腺转录因子发挥作用,在甲状腺形态发生中发挥作用。该基因的突变与 Bamforth-Lazarus 综合征相关,并且易患非髓样甲状腺癌 4。[RefSeq 提供,2016 年 11 月]

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 基因产物(1)

mRNA Protein Name
NM_004473.4 NP_004464.2 forkhead box protein E1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
9697705 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
24219130 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
IMP: 通过突变表型推断
12165566 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27852061 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9697705 GOA
enables sequence-specific DNA binding IMP
IMP: 通过突变表型推断
12165566 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chordate pharynx development IEP
IEP: 通过表达模式推断
15494458 GOA
involved in hard palate development IMP
IMP: 通过突变表型推断
12165566 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
9697705 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
24219130 GOA
involved in regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
12165566 GOA
involved in soft palate development IMP
IMP: 通过突变表型推断
12165566 GOA
involved in thymus development IEP
IEP: 通过表达模式推断
15494458 GOA
involved in thyroid gland development IEP
IEP: 通过表达模式推断
15494458 GOA
involved in thyroid gland development IMP
IMP: 通过突变表型推断
9697705 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
9697705 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FOXE1 蛋白结构

Forkhead

Forkhead: Forkhead domain (53 - 148)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
蛋白主名 其他名称

forkhead box protein E1

HNF-3/fork head-like protein 5

FOXE1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra FOXE1 O00358 ELK1 Homo sapiens P19419
Array
27852061
Intra FOXE1 O00358 ELK1 Homo sapiens P19419
Anti Tag CoIP
27852061
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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