ENSG00000102878


Homo sapiens

Features
Gene ID: ENSG00000102878
  
Biological name :HSF4
  
Synonyms : heat shock transcription factor 4 / HSF4 / Q9ULV5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q22.1
Gene start: 67164681
Gene end: 67169945
  
Corresponding Affymetrix probe sets: 210977_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429580
Ensembl peptide - ENSP00000463706
Ensembl peptide - ENSP00000430947
Ensembl peptide - ENSP00000430840
Ensembl peptide - ENSP00000430724
Ensembl peptide - ENSP00000430631
Ensembl peptide - ENSP00000430299
Ensembl peptide - ENSP00000430211
Ensembl peptide - ENSP00000403219
Ensembl peptide - ENSP00000427832
Ensembl peptide - ENSP00000427963
Ensembl peptide - ENSP00000428077
Ensembl peptide - ENSP00000428161
Ensembl peptide - ENSP00000428978
Ensembl peptide - ENSP00000429486
NCBI entrez gene - 3299     See in Manteia.
OMIM - 602438
RefSeq - NM_001040667
RefSeq - NM_001538
RefSeq Peptide - NP_001035757
RefSeq Peptide - NP_001529
swissprot - A0A024R6X7
swissprot - H0YAR7
swissprot - H0YAU2
swissprot - H0YBG9
swissprot - H0YBS6
swissprot - H0YBT7
swissprot - H0YC14
swissprot - H0YC39
swissprot - E7EWW4
swissprot - Q9ULV5
swissprot - E5RK26
swissprot - E5RJV4
swissprot - E5RHY0
swissprot - E5RG51
Ensembl - ENSG00000102878
  
Related genetic diseases (OMIM): 116800 - Cataract 5, multiple types, 116800

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hsf4ENSDARG00000013251Danio rerio
 HSF4ENSGALG00000003224Gallus gallus
 Hsf4ENSMUSG00000033249Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HSF1 / Q00613 / heat shock transcription factor 1ENSG0000018512236
HSF2 / Q03933 / heat shock transcription factor 2ENSG0000002515626


Protein motifs (from Interpro)
Interpro ID Name
 IPR000232  Heat shock factor (HSF)-type, DNA-binding
 IPR027725  Heat shock transcription factor family
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001654 eye development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0033169 histone H3-K9 demethylation IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0045597 positive regulation of cell differentiation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048468 cell development IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0070207 protein homotrimerization IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0016607 nuclear speck IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001134 Anterior polar cataract "A `polar cataract` (HP:0010696) that affects the `anterior pole of the lens` (FMA:58897)." [HPO:probinson]
Show

 HP:0007971 Lamellar cataract "A `congenital cataract` (HP:0000519) in which opacity is limited to layers of the lens external to the nucleus." [HPO:probinson]
Show

 HP:0010693 Pulverulent Cataract "A kind of `congenital cataract` (HP:0000519) that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO:probinson]
Show

 HP:0100018 Nuclear cataract "A nuclear cataract is an opacity or clouding that develops in the `lens nucleus` (FMA:58971). That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr