HSF4 (heat shock transcription factor 4)

2013-02-01  

Identity

HGNC
LOCATION
16q22.1
LOCUSID
ALIAS
CTM,CTRCT5

Other Information

Locus ID:

NCBI: 3299
MIM: 602438
HGNC: 5227
Ensembl: ENSG00000102878

Variants:

dbSNP: 3299
ClinVar: 3299
TCGA: ENSG00000102878
COSMIC: HSF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102878ENST00000434833E7EWW4
ENSG00000102878ENST00000517685E5RK26
ENSG00000102878ENST00000517729H0YBT7
ENSG00000102878ENST00000517750H0YBS6
ENSG00000102878ENST00000519224H0YC14
ENSG00000102878ENST00000519601H0YAU2
ENSG00000102878ENST00000520304H0YC39
ENSG00000102878ENST00000520528H0YAR7
ENSG00000102878ENST00000521314E5RHY0
ENSG00000102878ENST00000521374Q9ULV5
ENSG00000102878ENST00000521374A0A024R6X7
ENSG00000102878ENST00000521624E5RJV4
ENSG00000102878ENST00000521916H0YBG9
ENSG00000102878ENST00000522295E5RG51
ENSG00000102878ENST00000523562E7EWW4
ENSG00000102878ENST00000584272Q9ULV5

Expression (GTEx)

0
50
100
150
200

References

Pubmed IDYearTitleCitations
120895252002Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.90
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
152774962004A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.45
159598092005Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.32
153086592004Developmentally dictated expression of heat shock factors: exclusive expression of HSF4 in the postnatal lens and its specific interaction with alphaB-crystallin heat shock promoter.29
189415462008Mutation screening of HSF4 in 150 age-related cataract patients.19
168765122006Novel HSF4 mutation causes congenital total white cataract in a Chinese family.18
190144512008A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.17
165527212006Heat shock transcription factor (Hsf)-4b recruits Brg1 during the G1 phase of the cell cycle and regulates the expression of heat shock proteins.15
235071462013HSF4 regulates DLAD expression and promotes lens de-nucleation.13

Citation

Dessen P

HSF4 (heat shock transcription factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53157/hsf4