Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8928
Gene name Gene Name - the full gene name approved by the HGNC.	Forkhead box H1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FOXH1
Synonyms (NCBI Gene) Gene synonyms aliases	FAST-1, FAST1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]

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SNP ID	Visualize variation	Clinical significance	Consequence
rs374587860	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

Show/Hide all(74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT528122	hsa-miR-6779-3p	PAR-CLIP	22012620
MIRT528121	hsa-miR-1245a	PAR-CLIP	22012620
MIRT528120	hsa-miR-8079	PAR-CLIP	22012620
MIRT528119	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT528118	hsa-miR-7108-3p	PAR-CLIP	22012620
MIRT528117	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT528116	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT528115	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT528114	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT528113	hsa-miR-3173-5p	PAR-CLIP	22012620
MIRT528112	hsa-miR-6799-3p	PAR-CLIP	22012620
MIRT528111	hsa-miR-4763-5p	PAR-CLIP	22012620
MIRT528110	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT528109	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT528108	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT528107	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT528106	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT528105	hsa-miR-573	PAR-CLIP	22012620
MIRT528104	hsa-miR-6894-3p	PAR-CLIP	22012620
MIRT528122	hsa-miR-6779-3p	PAR-CLIP	22012620
MIRT528121	hsa-miR-1245a	PAR-CLIP	22012620
MIRT528120	hsa-miR-8079	PAR-CLIP	22012620
MIRT528119	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT528118	hsa-miR-7108-3p	PAR-CLIP	22012620
MIRT528117	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT528116	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT528115	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT528114	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT528113	hsa-miR-3173-5p	PAR-CLIP	22012620
MIRT528112	hsa-miR-6799-3p	PAR-CLIP	22012620
MIRT528111	hsa-miR-4763-5p	PAR-CLIP	22012620
MIRT528110	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT528109	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT528108	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT528107	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT528106	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT528105	hsa-miR-573	PAR-CLIP	22012620
MIRT528104	hsa-miR-6894-3p	PAR-CLIP	22012620
MIRT1001647	hsa-miR-1193	CLIP-seq
MIRT1001648	hsa-miR-1253	CLIP-seq
MIRT1001649	hsa-miR-1587	CLIP-seq
MIRT1001650	hsa-miR-3132	CLIP-seq
MIRT1001651	hsa-miR-3134	CLIP-seq
MIRT1001652	hsa-miR-4251	CLIP-seq
MIRT1001653	hsa-miR-4417	CLIP-seq
MIRT1001654	hsa-miR-4492	CLIP-seq
MIRT1001655	hsa-miR-4498	CLIP-seq
MIRT1001656	hsa-miR-452	CLIP-seq
MIRT1001657	hsa-miR-4534	CLIP-seq
MIRT1001658	hsa-miR-4656	CLIP-seq
MIRT1001659	hsa-miR-4675	CLIP-seq
MIRT1001660	hsa-miR-4676-3p	CLIP-seq
MIRT1001661	hsa-miR-4684-3p	CLIP-seq
MIRT1001662	hsa-miR-4693-5p	CLIP-seq
MIRT1001663	hsa-miR-4727-3p	CLIP-seq
MIRT1001664	hsa-miR-4741	CLIP-seq
MIRT1001665	hsa-miR-518a-5p	CLIP-seq
MIRT1001666	hsa-miR-527	CLIP-seq
MIRT1001667	hsa-miR-762	CLIP-seq
MIRT1996822	hsa-miR-1184	CLIP-seq
MIRT1996823	hsa-miR-1301	CLIP-seq
MIRT1996824	hsa-miR-1976	CLIP-seq
MIRT1996825	hsa-miR-24	CLIP-seq
MIRT1996826	hsa-miR-3155	CLIP-seq
MIRT1996827	hsa-miR-3155b	CLIP-seq
MIRT1996828	hsa-miR-4268	CLIP-seq
MIRT1996829	hsa-miR-4448	CLIP-seq
MIRT1996830	hsa-miR-4660	CLIP-seq
MIRT1996831	hsa-miR-4690-3p	CLIP-seq
MIRT1996832	hsa-miR-484	CLIP-seq
MIRT1996833	hsa-miR-5047	CLIP-seq
MIRT2230759	hsa-miR-1254	CLIP-seq
MIRT2230760	hsa-miR-3116	CLIP-seq
MIRT2230761	hsa-miR-4728-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IDA	21828274
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IBA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IC	21828274
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003139	Process	Secondary heart field specification	IEA
GO:0003139	Process	Secondary heart field specification	ISS
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	NAS	17507406
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003677	Function	DNA binding	IDA	9389648
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	17438144
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	16120611
GO:0005515	Function	Protein binding	IPI	9702198, 16120611, 17474147, 21828274, 32296183
GO:0005634	Component	Nucleus	IC	9702198
GO:0005634	Component	Nucleus	IDA	16120611
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IDA	17438144
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	ISS
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	9702198
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0019904	Function	Protein domain specific binding	IPI	9702198
GO:0032444	Component	Activin responsive factor complex	IBA
GO:0032444	Component	Activin responsive factor complex	IDA	9389648
GO:0032444	Component	Activin responsive factor complex	IEA
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0038092	Process	Nodal signaling pathway	NAS	17507406
GO:0043425	Function	BHLH transcription factor binding	IPI	21828274
GO:0043565	Function	Sequence-specific DNA binding	IDA	9702198
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9389648, 9702198
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9702198
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14671321
GO:0046332	Function	SMAD binding	IEA
GO:0046332	Function	SMAD binding	IPI	21828274
GO:0048318	Process	Axial mesoderm development	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IPI	16120611
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IDA	16120611
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0070410	Function	Co-SMAD binding	IMP	16120611
GO:0070412	Function	R-SMAD binding	IEA
GO:0070412	Function	R-SMAD binding	IMP	16120611
GO:0070412	Function	R-SMAD binding	IPI	9389648, 9702198
GO:0071345	Process	Cellular response to cytokine stimulus	IMP	14671321
GO:0140297	Function	DNA-binding transcription factor binding	IPI	18922797

MIM	HGNC	e!Ensembl
603621	3814	ENSG00000160973

Protein

UniProt ID

O75593

Protein name

Forkhead box protein H1 (Forkhead activin signal transducer 1) (Fast-1) (hFAST-1) (Forkhead activin signal transducer 2) (Fast-2)

Protein function

Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SM

PDB

5XOC , 7YZB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00250	Forkhead	32 → 116	Forkhead domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9702198}.

Sequence

MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQII
RQVQAVFPFFREDYEGWKDSIRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEAL
RLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPPPPPSEGFSIKSLLGGSGEGA
PWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSC
PQCPSTSPAYWGVAPETRGPPGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLL
SWCSL

Sequence length

365

Interactions

View interactions

	Reactome
			Signaling by NODAL Signaling by Activin

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Conotruncal defect	conotruncal defect	rs1564752095, rs1379104498, rs1825112395, rs1825112515, rs1312980498, rs1341550325	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Holoprosencephaly	Holoprosencephaly sequence	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	25409762
Conotruncal cardiac defects	Associate	37406974
Disease	Associate	30464193
Friedreich Ataxia	Stimulate	30464193
Heart Defects Congenital	Associate	32078439
Tetralogy of Fallot	Associate	25093829
Transposition of Great Vessels	Associate	32078439

FOXH1 (forkhead box H1)