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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8928
Gene name	Forkhead box H1
Gene symbol	FOXH1
Synonyms (NCBI Gene)	FAST-1FAST1
Chromosome	8
Chromosome location	8q24.3
Summary	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

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

182

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Conotruncal defect	Likely pathogenic	rs1564752095, rs1379104498, rs1825112395, rs1825112515, rs1312980498, rs1341550325	RCV001175382 RCV001175383 RCV001175385 RCV001175386 RCV001175387 RCV001175388

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CBL-related disorder	Uncertain significance	rs1586726058	RCV000853586
FOXH1-related disorder	Likely benign; Uncertain significance; Benign	rs748361546, rs375647894, rs1278245836, rs1825128414, rs1437560600, rs201165974, rs759442283, rs1303161222, rs1239788503, rs141411287, rs149905713, rs149382395	RCV003950871 RCV003391313 RCV003410803 RCV003414365 RCV003397801 RCV003392822 RCV003901428 RCV003961772 RCV003954354 RCV003960090 RCV003403626 RCV003955585
Holoprosencephaly sequence	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs144830740, rs768693604, rs780001651, rs1488443353, rs2130035536, rs200335846, rs1213772350, rs760782228, rs201691370, rs775241333, rs369306218, rs200095132, rs1341732331, rs373424413, rs1825126970 View all (133 more)	RCV000536028 RCV001316318 RCV001319060 RCV001321793 RCV001368263 RCV001368767 RCV001424623 RCV001489564 RCV001490438 RCV001919188 RCV001881507 RCV002015376 RCV001969872 RCV001940677 RCV001925221 RCV000550766 RCV000462407 RCV000260548 RCV000226517 RCV001915313 RCV001889942 RCV002026745 RCV001987247 RCV002007707 RCV001955505 RCV002110138 RCV002177941 RCV002136052 RCV002152186 RCV002193547 RCV002159420 RCV003062125 RCV003062186 RCV003081268 RCV003077430 RCV002579023 RCV003080952 RCV003080663 RCV002595855 RCV002633670 RCV002654620 RCV000472842 RCV002516728 RCV000459468 RCV002667014 RCV002720903 RCV002756521 RCV001086407 RCV003005119 RCV003040323 RCV000205773 RCV003643037 RCV000229307 RCV000402838 RCV000467626 RCV000556932 RCV003529348 RCV003529428 RCV003529204 RCV003529285 RCV003529448 RCV003529572 RCV003529595 RCV003527951 RCV003527789 RCV003527910 RCV003644061 RCV003644292 RCV003644342 RCV003642399 RCV000282528 RCV000343524 RCV000348744 RCV000402855 RCV003642475 RCV003642751 RCV000315365 RCV000356613 RCV000261811 RCV000383467 RCV000293797 RCV000405987 RCV003829073 RCV000319003 RCV000378246 RCV000283821 RCV000403162 RCV000289698 RCV000298563 RCV000334780 RCV000344638 RCV000394977 RCV000321617 RCV000287832 RCV000299690 RCV003862635 RCV003874889 RCV003870510 RCV000467437 RCV000458875 RCV000468336 RCV000475412 RCV001449128 RCV000557713 RCV000633321 RCV000633320 RCV000633319 RCV000692439 RCV000695876 RCV000693519 RCV000700052 RCV000822467 RCV000862223 RCV000862703 RCV000865887 RCV003528241 RCV001515530 RCV001158371 RCV002539208 RCV001421179 RCV000981633 RCV001038767 RCV001068470 RCV001050255 RCV001160060 RCV001160061 RCV001161469 RCV001161470 RCV001161471 RCV001161472 RCV001161473 RCV001161474 RCV001162996 RCV001165081 RCV001165082 RCV001165083 RCV001158372 RCV001158373 RCV001161583 RCV001163112 RCV001163113 RCV001163114 RCV001163115 RCV001163116 RCV001165192 RCV001165193 RCV001165194 RCV001165195 RCV001158481 RCV001158482 RCV001229101 RCV001237528 RCV001304392
Lung cancer	Uncertain significance	rs138436343	RCV005927143

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)