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

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
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

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
rs1555549755	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567668570	C>T	Likely-pathogenic	Coding sequence variant, missense variant

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
MIRT2389204	hsa-miR-4472	CLIP-seq
MIRT2245123	hsa-miR-4488	CLIP-seq
MIRT2245124	hsa-miR-4697-5p	CLIP-seq
MIRT2389205	hsa-miR-4727-3p	CLIP-seq

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	IDA	8972228
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	8972228
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0019903	Function	Protein phosphatase binding	IPI	16581800
GO:0042802	Function	Identical protein binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0070306	Process	Lens fiber cell differentiation	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
602438	5227	ENSG00000102878

Protein

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

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
Cataract	Cataract 5 multiple types	rs121909048, rs28937573, rs121909049, rs121909050, rs1555549755, rs1456161420, rs776129797, rs1567668570	N/A

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Lymphatic Metastasis	Stimulate	38420805
Neoplasm Metastasis	Stimulate	30242807
Neoplasms	Associate	39940931
Neoplastic Syndromes Hereditary	Associate	31842807
Prostatic Neoplasms	Associate	37478850

HSF4 (heat shock transcription factor 4)