FOXD3 - forkhead box D3 Gene

Also Known as AIS1; HFH2; VAMAS2; Genesis

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27022

About FOXD3

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:63,322,567-63,325,128 (from NCBI)

This gene has 1 transcript (splice variant), 146 orthologues, 42 paralogues and is associated with 3 phenotypes.

Summary

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]

FOXD3 Products (1)

mRNA	Protein	Name
NM_012183.3	NP_036315.1	forkhead box protein D3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	22306510	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22306510	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11891324	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 negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22306510	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11891324	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	22306510	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

FOXD3 Protein Structure

Forkhead

0
100
200
300
400
478 a.a.

Protein Preferred Names	Protein Names
forkhead box protein D3	HNF3/FH transcription factor genesis

FOXD3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84871	FoxD3 Antibody (YA4568)	WB, IHC-P, ELISA, ELISA	Human, Mouse, Monkey
HY-P84871A	FoxD3 Antibody (YA4568)(PBS only)	WB, IHC-P, ELISA, ELISA	Human, Mouse, Monkey
HY-P85172	FoxD3 Antibody (YA4864)	WB, IHC-P, ICC/IF, ELISA	Human, Mouse, Monkey

Related Diseases

Diseases	Alias
Autoimmune Disease 1	Autoimmune Disease, Susceptibility To, 1 AIS1 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2 Vamas2 Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related Autoimmune Disease Susceptibility 1 Autoimmune Disease Susceptibility Locus Chromosome 1p-Related Vitiligo-Associated Multiple Autoimmune Disease Type 2 Autoimmune Disease, Susceptibility To, Type 1 Autoimmune Diseases
Hashimoto Thyroiditis	Autoimmune Thyroiditis Hashimoto Struma Hashimoto'S Thyroiditis Chronic Lymphocytic Thyroiditis Lymphocytic Thyroiditis Hashimoto Disease Ht Hashimoto'S Disease Hashimoto'S Syndrome Hypothyroidism, Autoimmune Autoimmune Chronic Lymphocytic Thyroiditis Chronic Lymphocytic Thyroiditides Hashimoto Syndrome Hashimotos Thyroiditis Hashimoto Thyroiditis, Susceptibility To Thyroiditis, Autoimmune Lymphomatous Thyroiditis Lymphoid Thyroiditis Chronic Lymphadenoid Thyroiditis Autoimmune Lymphocytic Chronic Thyroiditis Goitre Lymphomatosa Hashitoxicosis Hashimoto Hypothyroidism Lymphadenoid Goitre Struma Lymphomatosa Hyperthyroidism With Hashimoto Disease Hashimoto Thyrotoxicosis Thyrotoxicosis Due To Hashimoto Thyroiditis Struma Lymphomatosis Lymphadenoid Struma
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	CMTX6 Charcot-Marie-Tooth Disease X-Linked Dominant 6 Cmt6x X-Linked Charcot-Marie-Tooth Disease Type 6 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 Charcot-Marie-Tooth Neuropathy X-Linked 6 Charcot-Marie-Tooth Disease, X-Linked, Type 6
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Orofacial Cleft	Cleft, Orofacial

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-RS05045	FOXD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20022	Foxd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26525	Foxd3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FOXD3	MGD	MGI:1347473
Felis catus	FOXD3	VGNC	VGNC:107544
Rattus norvegicus	FOXD3	RGD	RGD:621715
Canis familiaris	FOXD3	VGNC	VGNC:53383
Macaca mulatta	FOXD3	VGNC	VGNC:72696
Bos taurus	FOXD3	VGNC	VGNC:29082
Others	FOXD3	NCBI