HSF4 (heat shock transcription factor 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3299
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock transcription factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSF4
Synonyms (NCBI Gene) Gene synonyms aliases
CTM, CTRCT5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CTRCT5
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs28937573 C>T Pathogenic Missense variant, coding sequence variant
rs121909048 T>C Pathogenic Coding sequence variant, missense variant
rs121909049 C>A Pathogenic Coding sequence variant, missense variant
rs121909050 A>G Pathogenic Coding sequence variant, missense variant
rs776129797 C>-,CC Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT029359 hsa-miR-26b-5p Microarray 19088304
MIRT2245123 hsa-miR-4488 CLIP-seq
MIRT2245124 hsa-miR-4697-5p CLIP-seq
MIRT2389202 hsa-miR-1244 CLIP-seq
MIRT2389203 hsa-miR-4447 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8972228
GO:0000785 Component Chromatin IDA 8972228
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 8972228
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602438 5227 ENSG00000102878
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9ULV5
Protein name Heat shock factor protein 4 (HSF 4) (hHSF4) (Heat shock transcription factor 4) (HSTF 4)
Protein function Heat-shock transcription factor that specifically binds heat shock promoter elements (HSE) (PubMed:22587838, PubMed:23507146). Required for denucleation and organelle rupture and degradation that occur during eye lens terminal differentiation, w
PDB 6J6V , 6J6W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00447 HSF_DNA-bind 20 → 120 HSF-type DNA-binding Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, eye and brain, and at much lower levels in some other tissues. {ECO:0000269|PubMed:12089525}.
Sequence 
MQEAPAALPTEPGPSPVPAFLGKLWALVGDPGTDHLIRWSPSGTSFLVSDQSRFAKEVLP
QYFKHSNMASFVRQLNMYGFRKVVSIEQGGLLRPERDHVEFQHPSFVRGREQLLERVRRK
VPALRGDDGRWRPEDLGRLLGEVQALRGVQESTEARLRELRQQNEILWREVVTLRQSHGQ
QHRVIGKLIQCLFGPLQAGPSNAGGKRKLSLMLDEGSSCPTPAKFNTCPLPGALLQDPYF
IQSPLPETNLGLSPHRARGPIISDIPEDSPSPEGTRLSPSSDGRREKGLALLKEEPASPG
GDGEAGLALAPNECDFCVTAPPPLPVAVVQAILEGKGSFSPEGPRNAQQPEPGDPREIPD
RGPLGLESGDRSPESLLPPMLLQPPQESVEPAGPLDVLGPSLQGREWTLMDLDMELSLMQ
PLVPERGEPELAVKGLNSPSPGKDPTLGAPLLLDVQAALGGPALGLPGALTIYSTPESRT
ASYLGPEASPSP
Sequence length 492
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract, Embryonal nuclear cataract (disorder), Nuclear cataract, Nuclear non-senile cataract, Cataract, Pulverulent, CATARACT, ANTERIOR POLAR, CATARACT, MARNER TYPE, CATARACT 5, MULTIPLE TYPES, Early-onset lamellar cataract, Total early-onset cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)		 12089525, 16876512, 24045990
Show/Hide Text Mining Associations (15)
Associations from Text Mining
Disease Name Relationship Type References
Cataract Associate 18941546, 19014451, 20670914, 22509099, 24637349, 28450710, 30143024, 31842807, 33923544, 34345029, 36161833
Cataract Age Related Nuclear Associate 18941546, 20670914
Cataract Autosomal Dominant Associate 24637349, 34345029
Cataract zonular Associate 22509099
Chromosome Aberrations Associate 19014451
Colorectal Neoplasms Stimulate 29131521
Colorectal Neoplasms Associate 38420805
Creutzfeldt Jakob Syndrome Associate 21298055
Death Associate 29131521
Drug Related Side Effects and Adverse Reactions Associate 38179774