HSF4 (heat shock transcription factor 4)

Gene

• Entrez ID: 3299
• Gene name: Heat shock transcription factor 4
• Gene symbol: HSF4
• Synonyms (NCBI Gene): CTM, CTRCT5
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: 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 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 602438
• HGNC: 5227
• e!Ensembl: 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract 5 multiple types	Pathogenic; Likely pathogenic	rs2145920428, rs2507002278, rs770722728, rs121909048, rs28937573, rs121909049, rs121909050, rs2507018497, rs1555549755, rs1456161420, rs776129797, rs1567668570	RCV001808172 RCV003041261 RCV002819309 RCV000007509 RCV000007510 RCV000007511 RCV000007512 RCV003142258 RCV000543740 RCV000525204 RCV000687504 RCV000706530
Developmental cataract	Likely pathogenic	rs2145919289	RCV001775011
HSF4-related disorder	Pathogenic; Likely pathogenic	rs770722728, rs760309963, rs2031121154	RCV004756423 RCV003418886 RCV003393136

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract	Likely benign; Uncertain significance	rs763526640, rs756298250, rs3215366	RCV000315528 RCV000326775 RCV000277455

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
Lymphatic Metastasis	Stimulate	38420805
Neoplasm Metastasis	Stimulate	30242807
Neoplasms	Associate	39940931
Neoplastic Syndromes Hereditary	Associate	31842807
Prostatic Neoplasms	Associate	37478850