FOXD1 (forkhead box D1)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2297
• Gene name: Forkhead box D1
• Gene symbol: FOXD1
• Synonyms (NCBI Gene): FKHL8, FREAC-4, FREAC4
• Chromosome: 5
• Chromosome location: 5q13.2
• Summary: This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiat

miRNA Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007277	hsa-miR-30a-5p	Luciferase reporter assay	23445407
MIRT024787	hsa-miR-215-5p	Microarray	19074876
MIRT007277	hsa-miR-30a-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	31602254
MIRT1001554	hsa-miR-1254	CLIP-seq
MIRT1001555	hsa-miR-30a	CLIP-seq
MIRT1001556	hsa-miR-30b	CLIP-seq
MIRT1001557	hsa-miR-30c	CLIP-seq
MIRT1001558	hsa-miR-30d	CLIP-seq
MIRT1001559	hsa-miR-30e	CLIP-seq
MIRT1001560	hsa-miR-3116	CLIP-seq
MIRT1001561	hsa-miR-3141	CLIP-seq
MIRT1001562	hsa-miR-3690	CLIP-seq
MIRT1001563	hsa-miR-371-3p	CLIP-seq
MIRT1001564	hsa-miR-371b-3p	CLIP-seq
MIRT1001565	hsa-miR-4254	CLIP-seq
MIRT1001566	hsa-miR-4520a-3p	CLIP-seq
MIRT1001567	hsa-miR-4638-3p	CLIP-seq
MIRT1001568	hsa-miR-515-3p	CLIP-seq
MIRT1001569	hsa-miR-519e	CLIP-seq
MIRT1001570	hsa-miR-550a	CLIP-seq
MIRT1001571	hsa-miR-578	CLIP-seq
MIRT1001572	hsa-miR-581	CLIP-seq
MIRT1001573	hsa-miR-661	CLIP-seq
MIRT1001574	hsa-miR-765	CLIP-seq
MIRT1996783	hsa-miR-1236	CLIP-seq
MIRT1996784	hsa-miR-3162-3p	CLIP-seq
MIRT1996785	hsa-miR-4691-5p	CLIP-seq
MIRT1996786	hsa-miR-4775	CLIP-seq
MIRT1996787	hsa-miR-590-3p	CLIP-seq
MIRT2230735	hsa-miR-548k	CLIP-seq
MIRT2230736	hsa-miR-548n	CLIP-seq
MIRT2230737	hsa-miR-580	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	9867825

Gene ontology (GO) Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003677	Function	DNA binding	IDA	7957066
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8702877
GO:0005634	Component	Nucleus	IC	7957066
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0008301	Function	DNA binding, bending	IDA	7957066
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0032275	Process	Luteinizing hormone secretion	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	7957066
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060678	Process	Dichotomous subdivision of terminal units involved in ureteric bud branching	IEA
GO:0060678	Process	Dichotomous subdivision of terminal units involved in ureteric bud branching	ISS
GO:0072076	Process	Nephrogenic mesenchyme development	IEA
GO:0072210	Process	Metanephric nephron development	IEA
GO:0072213	Process	Metanephric capsule development	IEA
GO:0072213	Process	Metanephric capsule development	ISS
GO:0072267	Process	Metanephric capsule specification	IEA
GO:0072267	Process	Metanephric capsule specification	ISS
GO:0072268	Process	Pattern specification involved in metanephros development	IEA
GO:0090184	Process	Positive regulation of kidney development	IEA
GO:0090184	Process	Positive regulation of kidney development	ISS

Other IDs

• MIM: 601091
• HGNC: 3802
• e!Ensembl: ENSG00000251493

Protein

• UniProt ID: Q16676
• Protein name: Forkhead box protein D1 (Forkhead-related protein FKHL8) (Forkhead-related transcription factor 4) (FREAC-4)
• Protein function: Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	124 → 210	Forkhead domain	Domain

• Sequence:

  MTLSTEMSDASGLAEETDIDVVGEGEDEEDEEEEDDDEGGGGGPRLAVPAQRRRRRRSYA
  GEDELEDLEEEEDDDDILLAPPAGGSPAPPGPAPAAGAGAGGGGGGGGAGGGGSAGSGAK
  NPLVKPPYSYIALITMAILQSPKKRLTLSEICEFISGRFPYYREKFPAWQNSIRHNLSLN
  DCFVKIPREPGNPGKGNYWTLDPESADMFDNGSFLRRRKRFKRQPLLPPNAAAAESLLLR
  GAGAAGGAGDPAAAAALFPPAPPPPPHAYGYGPYGCGYGLQLPPYAPPSALFAAAAAAAA
  AAAFHPHSPPPPPPPHGAAAELARTAFGYRPHPLGAALPGPLPASAAKAGGPGASALARS
  PFSIESIIGGSLGPAAAAAAAAQAAAAAQASPSPSPVAAPPAPGSSGGGCAAQAAVGPAA
  ALTRSLVAAAAAAASSVSSSAALGTLHQGTALSSVENFTARISNC

• Sequence length: 465

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
FOXD1-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (50)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	25043849		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	30635407	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29864920		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30454048, 34184566, 36229838	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35435161	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27458175	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31795213		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32351986	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31252264		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31252264		★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	24488803		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38143338	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29864920, 29887965, 30792394		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35395711, 35579380, 37203394, 39494294	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30933975		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28075458		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35974001	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28075458		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28075458, 29864920, 30225541, 31102349		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30225541, 34937497	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29667914		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35126932	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	30124871		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	25043849		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	30635407	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32568181	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34772357	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29864920		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31795213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31602254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19220249		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29959475, 31102349		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31252264		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30110134		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32568181, 40083705	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29864920, 29936179, 30225541		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25550559, 30562753		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29936179		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31602254		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36057597	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19220249		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32027524	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30830875		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30545632		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34028536, 34772357, 35112956, 35126932, 35886008, 36172670	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30635407, 32460412	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34184566	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35435161, 39368544	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for FOXD1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to FOXD1.