FOXH1 (forkhead box H1) - Rat Genome Database

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Gene: FOXH1 (forkhead box H1) Homo sapiens
Analyze
Symbol: FOXH1
Name: forkhead box H1
RGD ID: 1322645
HGNC Page HGNC:3814
Description: Enables several functions, including DNA-binding transcription factor binding activity; SMAD binding activity; and sequence-specific DNA binding activity. Contributes to DNA binding activity and DNA-binding transcription factor activity. Involved in cellular response to cytokine stimulus; negative regulation of intracellular steroid hormone receptor signaling pathway; and regulation of DNA-templated transcription. Located in chromatin and nucleus. Part of activin responsive factor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FAST-1; fast-2; FAST1; forkhead activin signal transducer 1; forkhead activin signal transducer 2; forkhead activin signal transducer-1; forkhead box protein H1; hFAST-1; TGF-beta/activin signal transducer
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100418938   LOC100418957  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,473,412 - 144,475,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,473,412 - 144,475,849 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,698,795 - 145,701,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,670,306 - 145,672,526 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,670,316 - 145,672,526NCBI
Celera8141,874,214 - 141,876,817 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,812,639 - 140,814,791 (-)NCBIHuRef
CHM1_18145,737,374 - 145,739,977 (-)NCBICHM1_1
T2T-CHM13v2.08145,643,152 - 145,645,589 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
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Original Reference(s)
FOXH1HumanConotruncal Cardiac Defects  IAGP 155791676DNA:misense mutations:cds:multipleRGD 
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FOXH1HumanBrown-Vialetto-Van Laere syndrome 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2ClinVarPMID:20301336 more ...
FOXH1HumanBrown-Vialetto-Van Laere syndrome 2  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2ClinVarPMID:28492532
FOXH1HumanConotruncal Cardiac Defects  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Conotruncal defectClinVarPMID:25741868 and PMID:32003456
FOXH1Humanepidermolysis bullosa simplex with muscular dystrophy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B and with muscular dystrophyClinVarPMID:20301336 more ...
FOXH1Humanepidermolysis bullosa simplex with muscular dystrophy  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B and with muscular dystrophyClinVarPMID:28492532
FOXH1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
FOXH1Humangenetic disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
FOXH1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
FOXH1Humanholoprosencephaly  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVarPMID:25741868 and PMID:28492532
FOXH1Humanholoprosencephaly  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVarPMID:28492532
FOXH1Humanholoprosencephaly  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVar 
FOXH1Humanholoprosencephaly  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
FOXH1Humanholoprosencephaly  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVarPMID:18538293 and PMID:28492532
FOXH1Humanholoprosencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVarPMID:18538293 more ...
FOXH1HumanRecombinant Chromosome 8 Syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Recombinant 8 syndromeClinVarPMID:31690835
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FOXH1Humantetralogy of Fallot  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25093829
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FOXH1Humanagnathia-otocephaly complex  ISSFoxh1 (Mus musculus)13592920OMIM:202650MouseDO 
FOXH1Humanvisceral heterotaxy  ISSFoxh1 (Mus musculus)13592920OMIM:306955 more ...MouseDO 

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FOXH1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOFoxh1 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of FOXH1 mRNACTDPMID:24058054
FOXH1Humanaflatoxin B1 decreases expressionEXP 6480464Aflatoxin B1 results in decreased expression of FOXH1 mRNACTDPMID:32234424
FOXH1Humanall-trans-retinoic acid multiple interactionsISOFoxh1 (Mus musculus)6480464[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in increased expression of FOXH1 mRNACTDPMID:36189433
FOXH1Humanall-trans-retinoic acid increases expressionISOFoxh1 (Mus musculus)6480464Tretinoin results in increased expression of FOXH1 mRNACTDPMID:36189433
FOXH1Humanbelinostat increases expressionEXP 6480464belinostat results in increased expression of FOXH1 mRNACTDPMID:26272509
FOXH1Humanbelinostat multiple interactionsEXP 6480464[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXH1 mRNACTDPMID:27188386
FOXH1Humanbenzo[a]pyrene affects methylationEXP 6480464Benzo(a)pyrene affects the methylation of FOXH1 exon and Benzo(a)pyrene affects the methylation of FOXH1 promoterCTDPMID:27901495 and PMID:30157460
FOXH1Humanbenzo[a]pyrene decreases expressionEXP 6480464Benzo(a)pyrene results in decreased expression of FOXH1 mRNACTDPMID:32234424
FOXH1Humanbis(2-ethylhexyl) phthalate decreases expressionEXP 6480464Diethylhexyl Phthalate results in decreased expression of FOXH1 mRNACTDPMID:31163220
FOXH1Humanbis(2-ethylhexyl) phthalate increases expressionISOFoxh1 (Rattus norvegicus)6480464Diethylhexyl Phthalate results in increased expression of FOXH1 mRNACTDPMID:29945229
FOXH1Humanbisphenol A decreases expressionISOFoxh1 (Rattus norvegicus)6480464bisphenol A results in decreased expression of FOXH1 mRNACTDPMID:25181051 more ...
FOXH1Humanbisphenol A affects methylationISOFoxh1 (Mus musculus)6480464bisphenol A affects the methylation of FOXH1 promoterCTDPMID:27334623
FOXH1Humancadmium dichloride increases expressionISOFoxh1 (Rattus norvegicus)6480464Cadmium Chloride results in increased expression of FOXH1 mRNACTDPMID:33453195
FOXH1Humancarbamazepine affects expressionEXP 6480464Carbamazepine affects the expression of FOXH1 mRNACTDPMID:25979313
FOXH1Humandorsomorphin multiple interactionsEXP 6480464[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...CTDPMID:27188386
FOXH1Humanentinostat multiple interactionsEXP 6480464[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXH1 mRNACTDPMID:27188386
FOXH1Humanentinostat increases expressionEXP 6480464entinostat results in increased expression of FOXH1 mRNACTDPMID:26272509
FOXH1Humanethanol increases expressionEXP 6480464Ethanol results in increased expression of FOXH1 mRNACTDPMID:23378141
FOXH1Humanmono(2-ethylhexyl) phthalate multiple interactionsISOFoxh1 (Mus musculus)6480464[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in increased expression of FOXH1 mRNACTDPMID:36189433
FOXH1Humanpanobinostat increases expressionEXP 6480464panobinostat results in increased expression of FOXH1 mRNACTDPMID:26272509

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Biological Process
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Original Reference(s)
FOXH1Humananterior/posterior pattern specification acts_upstream_of_or_withinIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humanaorta morphogenesis involved_inISSUniProtKB:O88621150520179 ARUK-UCLGO_REF:0000024
FOXH1Humanaorta morphogenesis involved_inIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humanaxial mesoderm development acts_upstream_of_or_withinIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humancardiac right ventricle morphogenesis involved_inISSUniProtKB:O88621150520179 BHF-UCLGO_REF:0000024
FOXH1Humancardiac right ventricle morphogenesis involved_inIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humancellular response to cytokine stimulus involved_inIMP 150520179 PMID:14671321UniProtPMID:14671321
FOXH1Humandetermination of left/right asymmetry in lateral mesoderm involved_inNAS 150520179 PMID:17507406BHF-UCLPMID:17507406
FOXH1Humandetermination of left/right symmetry acts_upstream_of_or_withinIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humanembryonic heart tube anterior/posterior pattern specification acts_upstream_of_or_withinIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humanheart looping involved_inISSUniProtKB:O88621150520179 BHF-UCLGO_REF:0000024
FOXH1Humanheart looping involved_inIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humanhepatocyte differentiation  ISOFoxh1 (Rattus norvegicus)9068941 RGDPMID:22715131 and REF_RGD_ID:155791677
FOXH1Humanhepatocyte differentiation involved_inIEAUniProtKB:A6HSC2 more ...150520179 EnsemblGO_REF:0000107
FOXH1Humannegative regulation of androgen receptor signaling pathway involved_inIDA 150520179 PMID:16120611BHF-UCLPMID:16120611
FOXH1Humannegative regulation of transcription by RNA polymerase II acts_upstream_of_or_withinISOMGI:958419068941 PMID:17568773MGIPMID:17568773
FOXH1Humannegative regulation of transcription by RNA polymerase II involved_inIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humannodal signaling pathway involved_inNAS 150520179 PMID:17507406BHF-UCLPMID:17507406
FOXH1Humanoutflow tract morphogenesis involved_inISSUniProtKB:O88621150520179 BHF-UCLGO_REF:0000024
FOXH1Humanoutflow tract morphogenesis involved_inIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
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Cellular Component
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FOXH1Humanactivin responsive factor complex part_ofIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humanactivin responsive factor complex part_ofIBAMGI:1347465 more ...150520179 GO_CentralGO_REF:0000033
FOXH1Humanactivin responsive factor complex part_ofIDA 150520179 PMID:9389648BHF-UCLPMID:9389648
FOXH1Humanchromatin located_inISAtfclass:3.3.1150520179 NTNU_SBGO_REF:0000113
FOXH1Humanchromatin located_inIDA 150520179 PMID:21828274BHF-UCLPMID:21828274
FOXH1Humannucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043
FOXH1Humannucleus located_inIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humannucleus located_inIEAUniRule:UR000413741150520179 UniProtGO_REF:0000104
FOXH1Humannucleus located_inICGO:0043565150520179 PMID:9702198UniProtPMID:9702198
FOXH1Humannucleus located_inIEAARBA:ARBA00026330150520179 UniProtGO_REF:0000117
FOXH1Humannucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044
FOXH1Humannucleus located_inIDA 150520179 PMID:16120611BHF-UCLPMID:16120611
FOXH1Humantranscription regulator complex part_ofIEAARBA:ARBA00026399150520179 UniProtGO_REF:0000117
FOXH1Humantranscription regulator complex part_ofIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1Humantranscription regulator complex part_ofIDA 150520179 PMID:17438144BHF-UCLPMID:17438144
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Molecular Function
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FOXH1HumanbHLH transcription factor binding enablesIPIUniProtKB:P15923 and UniProtKB:Q99081150520179 PMID:21828274BHF-UCLPMID:21828274
FOXH1Humancis-regulatory region sequence-specific DNA binding enablesICGO:0000785150520179 PMID:21828274ARUK-UCLPMID:21828274
FOXH1Humanco-SMAD binding enablesIMP 150520179 PMID:16120611BHF-UCLPMID:16120611
FOXH1HumanDNA binding enablesIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1HumanDNA binding enablesIEAUniRule:UR000413741150520179 UniProtGO_REF:0000104
FOXH1HumanDNA binding enablesIEAUniProtKB-KW:KW-0238150520179 UniProtGO_REF:0000043
FOXH1HumanDNA binding contributes_toIDA 150520179 PMID:9389648BHF-UCLPMID:9389648
FOXH1HumanDNA-binding transcription activator activity, RNA polymerase II-specific enablesIBAMGI:1347465 and PANTHER:PTN008715954150520179 GO_CentralGO_REF:0000033
FOXH1HumanDNA-binding transcription activator activity, RNA polymerase II-specific enablesIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1HumanDNA-binding transcription factor activity contributes_toIDA 150520179 PMID:17438144BHF-UCLPMID:17438144
FOXH1HumanDNA-binding transcription factor activity enablesIEAInterPro:IPR001766 and InterPro:IPR030456150520179 InterProGO_REF:0000002
FOXH1HumanDNA-binding transcription factor activity enablesIEAUniProtKB:O88621 and ensembl:ENSMUSP00000036591150520179 EnsemblGO_REF:0000107
FOXH1HumanDNA-binding transcription factor activity, RNA polymerase II-specific enablesISAtfclass:3.3.1150520179 NTNU_SBGO_REF:0000113
FOXH1HumanDNA-binding transcription factor binding enablesIPIUniProtKB:Q7T103150520179 PMID:18922797UniProtPMID:18922797
FOXH1Humannuclear androgen receptor binding enablesIPIUniProtKB:P10275150520179 PMID:16120611BHF-UCLPMID:16120611
FOXH1Humanprotein binding enablesIPIUniProtKB:Q15796150520179 PMID:9702198IntActPMID:9702198
FOXH1Humanprotein binding enablesIPIUniProtKB:P10275150520179 PMID:16120611IntActPMID:16120611
FOXH1Humanprotein binding enablesIPIUniProtKB:A1KXE4-2 more ...150520179 PMID:32296183IntActPMID:32296183
FOXH1Humanprotein binding enablesIPIUniProtKB:P15923 more ...150520179 PMID:21828274IntActPMID:21828274
FOXH1Humanprotein binding enablesIPIUniProtKB:P16333150520179 PMID:17474147IntActPMID:17474147
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RGD Manual Annotations


  
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FOXH1Humantransforming growth factor-beta Smad dependent signaling pathway   TAS 5143919 RGD 
FOXH1Humantransforming growth factor-beta Smad dependent signaling pathway   TAS 2302137 RGD 
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FOXH1HumanAbnormal brainstem morphology  IAGP 8699517 HPOORPHA:220386
FOXH1HumanAbnormal brainstem morphology  IAGP 8699517 HPOORPHA:93925
FOXH1HumanAbnormal brainstem morphology  IAGP 8699517 HPOORPHA:93924
FOXH1HumanAbnormal brainstem morphology  IAGP 8699517 HPOORPHA:93926
FOXH1HumanAbnormal cardiovascular system morphology  IAGP 8699517 HPOORPHA:280200
FOXH1HumanAbnormal central motor function  IAGP 8699517 HPOORPHA:220386
FOXH1HumanAbnormal central motor function  IAGP 8699517 HPOORPHA:93925
FOXH1HumanAbnormal central motor function  IAGP 8699517 HPOORPHA:93924
FOXH1HumanAbnormal central motor function  IAGP 8699517 HPOORPHA:93926
FOXH1HumanAbnormal corpus callosum morphology  IAGP 8699517 HPOORPHA:280195
FOXH1HumanAbnormal gastrointestinal tract morphology  IAGP 8699517 HPOORPHA:220386
FOXH1HumanAbnormal gastrointestinal tract morphology  IAGP 8699517 HPOORPHA:93925
FOXH1HumanAbnormal gastrointestinal tract morphology  IAGP 8699517 HPOORPHA:93924
FOXH1HumanAbnormal gastrointestinal tract morphology  IAGP 8699517 HPOORPHA:93926
FOXH1HumanAbnormal heart morphology  IAGP 8699517 HPOORPHA:93926
FOXH1HumanAbnormal heart morphology  IAGP 8699517 HPOORPHA:220386
FOXH1HumanAbnormal heart morphology  IAGP 8699517 HPOORPHA:93925
FOXH1HumanAbnormal heart morphology  IAGP 8699517 HPOORPHA:93924
FOXH1HumanAbnormal heart rate variability  IAGP 8699517 HPOORPHA:220386
FOXH1HumanAbnormal heart rate variability  IAGP 8699517 HPOORPHA:93925
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Original Reference(s)
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:25741868 and PMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:25741868 and PMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:25741868
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
FOXH1HumanArrhinencephaly  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
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Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Smad transcription factors. Massagué J, etal., Genes Dev. 2005 Dec 1;19(23):2783-810.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. How the Smads regulate transcription. Ross S and Hill CS, Int J Biochem Cell Biol. 2008;40(3):383-408. Epub 2007 Oct 7.
7. Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect. Wei W, etal., Clin Genet. 2020 Apr;97(4):576-585. doi: 10.1111/cge.13710. Epub 2020 Feb 12.
PMID:9288972   PMID:9389648   PMID:9702198   PMID:9858566   PMID:10199400   PMID:10938097   PMID:11076863   PMID:11371641   PMID:12471260   PMID:12477932   PMID:12732634   PMID:14671321  
PMID:15084259   PMID:15363409   PMID:15737749   PMID:15750622   PMID:15982639   PMID:16120611   PMID:16636667   PMID:16916642   PMID:17438144   PMID:17474147   PMID:17507406   PMID:18538293  
PMID:18922797   PMID:19274049   PMID:19420158   PMID:19525021   PMID:19711044   PMID:20211142   PMID:20301702   PMID:20634891   PMID:21828274   PMID:21873635   PMID:25201988   PMID:25482028  
PMID:25609649   PMID:25969425   PMID:30594391   PMID:31861475   PMID:32296183   PMID:33323411   PMID:34633764   PMID:35255005   PMID:36373674   PMID:36435807  



FOXH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,473,412 - 144,475,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,473,412 - 144,475,849 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,698,795 - 145,701,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,670,306 - 145,672,526 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,670,316 - 145,672,526NCBI
Celera8141,874,214 - 141,876,817 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,812,639 - 140,814,791 (-)NCBIHuRef
CHM1_18145,737,374 - 145,739,977 (-)NCBICHM1_1
T2T-CHM13v2.08145,643,152 - 145,645,589 (-)NCBIT2T-CHM13v2.0
Foxh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,552,029 - 76,554,286 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,552,425 - 76,554,148 (-)EnsemblGRCm39 Ensembl
GRCm381576,667,829 - 76,671,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,668,225 - 76,669,948 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,498,737 - 76,500,303 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,495,562 - 76,497,128 (-)NCBIMGSCv36mm8
Celera1578,161,919 - 78,163,485 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.24NCBI
Foxh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,268,608 - 110,272,105 (-)NCBIGRCr8
mRatBN7.27108,387,969 - 108,391,566 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,387,969 - 108,390,049 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,129,799 - 110,131,879 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,353,375 - 112,355,455 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,314,210 - 112,316,290 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,730,307 - 117,733,076 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,730,307 - 117,732,387 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,718,390 - 117,720,470 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,717,890 - 114,719,455 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,752,036 - 114,753,685 (-)NCBI
Celera7104,737,872 - 104,739,952 (-)NCBICelera
Cytogenetic Map7q34NCBI
Foxh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,094,033 - 3,095,512 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,094,015 - 3,096,060 (-)NCBIChiLan1.0ChiLan1.0
FOXH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,965,218 - 161,969,422 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,494,284 - 137,498,488 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,240,691 - 141,244,381 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,229,228 - 144,231,829 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,225,933 - 144,232,736 (-)Ensemblpanpan1.1panPan2
FOXH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,883,554 - 37,887,324 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,882,687 - 37,885,319 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,844,309 - 37,848,077 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,357,286 - 38,361,056 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,356,419 - 38,358,928 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11338,049,036 - 38,052,801 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,157,673 - 38,161,434 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,634,120 - 38,637,890 (-)NCBIUU_Cfam_GSD_1.0
Foxh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303361,968 - 365,427 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,789,541 - 7,791,039 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,789,486 - 7,791,067 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4322,838 - 324,481 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14320,610 - 324,570 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24411,723 - 415,556 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FOXH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,685,137 - 138,688,451 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,685,626 - 138,687,144 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,166,573 - 1,171,132 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,386,281 - 12,387,774 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,384,728 - 12,388,234 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in FOXH1
216 total Variants

1 to 10 of 349 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
1 to 10 of 349 rows

Predicted Target Of
Summary Value
Count of predictions:1065
Count of miRNA genes:659
Interacting mature miRNAs:779
Transcripts:ENST00000377317, ENST00000525197
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

FOXH1_434.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,699,479 - 145,700,220UniSTSGRCh37
Build 368145,670,287 - 145,671,028RGDNCBI36
Celera8141,874,578 - 141,875,319RGD




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1103 2072 2171 1509 4703 1580 2136 2 534 1265 376 2200 5235 4750 48 3481 724 1641 1499 170



Ensembl Acc Id: ENST00000377317   ⟹   ENSP00000366534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,473,412 - 144,475,849 (-)Ensembl
Ensembl Acc Id: ENST00000525197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,474,873 - 144,475,823 (-)Ensembl
RefSeq Acc Id: NM_003923   ⟹   NP_003914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,473,412 - 144,475,849 (-)NCBI
GRCh378145,699,115 - 145,701,718 (-)ENTREZGENE
Build 368145,670,306 - 145,672,526 (-)NCBI Archive
HuRef8140,812,639 - 140,814,791 (-)ENTREZGENE
CHM1_18145,737,374 - 145,739,977 (-)NCBI
T2T-CHM13v2.08145,643,152 - 145,645,589 (-)NCBI
Sequence:
Protein RefSeqs NP_003914 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC34303 (Get FASTA)   NCBI Sequence Viewer  
  AAH65377 (Get FASTA)   NCBI Sequence Viewer  
  EAW82083 (Get FASTA)   NCBI Sequence Viewer  
  EAW82084 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366534
  ENSP00000366534.4
GenBank Protein O75593 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003914   ⟸   NM_003923
- UniProtKB: D3DWM4 (UniProtKB/Swiss-Prot),   O75593 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000366534   ⟸   ENST00000377317
Fork-head

Name Modeler Protein Id AA Range Protein Structure
AF-O75593-F1-model_v2 AlphaFold O75593 1-365 view protein structure

RGD ID:7214487
Promoter ID:EPDNEW_H12990
Type:initiation region
Name:FOXH1_1
Description:forkhead box H1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,475,848 - 144,475,908EPDNEW
RGD ID:6806766
Promoter ID:HG_KWN:62353
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:UC010MGA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,670,936 - 145,671,436 (-)MPROMDB
RGD ID:6806764
Promoter ID:HG_KWN:62354
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000292541,   NM_003923
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,672,066 - 145,673,017 (-)MPROMDB


1 to 30 of 30 rows
Database
Acc Id
Source(s)
COSMIC FOXH1 COSMIC
Ensembl Genes ENSG00000160973 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377317 ENTREZGENE
  ENST00000377317.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000160973 GTEx
HGNC ID HGNC:3814 ENTREZGENE
Human Proteome Map FOXH1 Human Proteome Map
InterPro Activin_resp_transcr_regulator UniProtKB/Swiss-Prot
  FH_FOXH1 UniProtKB/Swiss-Prot
  Fork_head_dom UniProtKB/Swiss-Prot
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:8928 UniProtKB/Swiss-Prot
NCBI Gene 8928 ENTREZGENE
OMIM 603621 OMIM
PANTHER FORKHEAD BOX PROTEIN H1 UniProtKB/Swiss-Prot
  FORKHEAD BOX PROTEIN H1 UniProtKB/Swiss-Prot
Pfam Forkhead UniProtKB/Swiss-Prot
PharmGKB PA28231 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot
PROSITE FORK_HEAD_2 UniProtKB/Swiss-Prot
  FORK_HEAD_3 UniProtKB/Swiss-Prot
SMART SM00339 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt D3DWM4 ENTREZGENE
  FOXH1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P0Y2_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DWM4 UniProtKB/Swiss-Prot
1 to 30 of 30 rows