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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3299
Gene name	Heat shock transcription factor 4
Gene symbol	HSF4
Synonyms (NCBI Gene)	CTMCTRCT5
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

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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 5 multiple types	Pathogenic; Likely pathogenic	rs2145920428, rs2507002278, rs770722728, rs121909048, rs28937573, rs121909049, rs121909050, rs2507018497, rs1555549755, rs1456161420, rs776129797, rs1567668570	RCV001808172 RCV003041261 RCV002819309 RCV000007509 RCV000007510 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Likely pathogenic	rs2145919289	RCV001775011	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSF4-related disorder	Pathogenic; Likely pathogenic	rs770722728, rs760309963, rs2031121154	RCV004756423 RCV003418886 RCV003393136	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cataract	Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATARACT 5 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 5, MULTIPLE TYPE S	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ZONULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LAMELLAR CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma of lung	Lung carcinoma	BEFREE	28819126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31794188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	12089525, 15959809, 16581800, 16876512, 19014451, 19224648, 22162625, 22509099, 22587838, 23507146, 24045990, 26490182, 28981088, 29454088, 29713869, 31842807 View all (1 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	LHGDN	12089525, 15959809, 18941546		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	Pubtator	18941546, 19014451, 20670914, 22509099, 24637349, 28450710, 30143024, 31842807, 33923544, 34345029, 36161833	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATARACT 5, MULTIPLE TYPES	Cataract	UNIPROT_DG	12089525, 16876512		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 5, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	12089525		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 5, MULTIPLE TYPES	Cataract	CLINVAR_DG	24045990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	24637349, 34345029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract zonular	Congenital cataract	Pubtator	22509099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	19224648, 24975927, 25168898, 29243736		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27632789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29131521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29131521	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38420805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28224771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	15277496, 15959809, 19014451, 24045990, 26490182, 30143024, 30316871, 31786107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital lamellar cataract	Congenital Cataract	BEFREE	19224648, 24975927, 25168898, 29243736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital total cataract	Congenital Cataract	ORPHANET_DG	15277496, 16876512		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset lamellar cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29031565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27632789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38420805	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28819126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	23329665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37478850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Total early-onset cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HSF4 (heat shock transcription factor 4)