HSFX4

Summary

HSFX4 (heat shock transcription factor family, X-linked member 4, HGNC:52398) is a protein-coding gene on chromosome Xq28, encoding Heat shock transcription factor, X-linked member 4 (A0A1B0GTS1).

Predicted to enable DNA-binding transcription factor activity and sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 101927685 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001351114

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52398
Approved symbol	HSFX4
Name	heat shock transcription factor family, X-linked member 4
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283463
Ensembl biotype	protein_coding
Entrez	101927685

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000457775

RefSeq mRNA: 1 — MANE Select: NM_001351114 NM_001351114

CCDS: CCDS87786

Canonical transcript exons

ENST00000457775 — 2 exons

Exon	Start	End
ENSE00001704828	149929573	149930127
ENSE00001769494	149930587	149931287

Expression profiles

Bgee: expression breadth ubiquitous, 104 present calls, max score 91.23.

Top tissues by expression

117 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.23	silver quality
left testis	UBERON:0004533	80.45	gold quality
testis	UBERON:0000473	80.08	gold quality
right testis	UBERON:0004534	78.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.36	silver quality
mucosa of stomach	UBERON:0001199	57.96	gold quality
left adrenal gland cortex	UBERON:0035825	52.72	gold quality
adrenal gland	UBERON:0002369	48.61	gold quality
left adrenal gland	UBERON:0001234	48.47	gold quality
left ovary	UBERON:0002119	46.11	gold quality
ovary	UBERON:0000992	46.01	gold quality
ventricular zone	UBERON:0003053	45.40	gold quality
cortical plate	UBERON:0005343	45.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	45.22	gold quality
right ovary	UBERON:0002118	45.10	gold quality
placenta	UBERON:0001987	44.97	gold quality
smooth muscle tissue	UBERON:0001135	44.90	gold quality
left uterine tube	UBERON:0001303	44.17	gold quality
granulocyte	CL:0000094	44.13	silver quality
bone marrow cell	CL:0002092	43.86	gold quality
right lobe of liver	UBERON:0001114	43.44	gold quality
tonsil	UBERON:0002372	43.19	silver quality
omental fat pad	UBERON:0010414	42.83	gold quality
lower esophagus mucosa	UBERON:0035834	42.81	silver quality
adrenal tissue	UBERON:0018303	42.72	silver quality
body of uterus	UBERON:0009853	42.60	silver quality
fundus of stomach	UBERON:0001160	42.49	gold quality
adenohypophysis	UBERON:0002196	42.29	gold quality
body of pancreas	UBERON:0001150	42.26	silver quality
endometrium	UBERON:0001295	41.69	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.21

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Hsf	FBGN0001222
caenorhabditis_elegans	hsf-1	WBGENE00002004

Paralogs (9): HSF2 (ENSG00000025156), HSF4 (ENSG00000102878), HSFY2 (ENSG00000169953), HSFX1 (ENSG00000171116), HSFY1 (ENSG00000172468), HSF5 (ENSG00000176160), HSF1 (ENSG00000185122), HSFX2 (ENSG00000268738), HSFX3 (ENSG00000283697)

Protein

Protein identifiers

Heat shock transcription factor, X-linked member 4 — A0A1B0GTS1 (reviewed: A0A1B0GTS1)

All UniProt accessions (1): A0A1B0GTS1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the HSF family.

RefSeq proteins (1): NP_001338043* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000232	HSF_DNA-bd	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily

Pfam: PF00447

UniProt features (7 total): compositionally biased region 3, region of interest 2, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTS1-F1	65.97	0.29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, chrXq28, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GOMF_CIS_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING

GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
DNA binding	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSFX4	EOLA2	Q96DE9	720
HSFX4	EOLA1	Q8TE69	608
HSFX4	TMEM185A	Q8NFB2	543
HSFX4	FMR1NB	Q8N0W7	542
HSFX4	MAGEA8	P43361	506
HSFX4	CXorf51A	A0A1B0GTR3	506
HSFX4	MAGEA9B	P43362	446
HSFX4	MAGEA11	P43364	433
HSFX4	SPANXN4	Q5MJ08	419
HSFX4	SPANXN3	Q5MJ09	417
HSFX4	SPANXN2	Q5MJ10	391
HSFX4	SPANXN1	Q5VSR9	379
HSFX4	AFF2	P51816	337
HSFX4	SPANXD	Q9BXN6	307
HSFX4	MAGEC3	Q8TD91	298

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTS1, A0A1B0GWH4, A1A4L6, A1YGI6, A6NDR6, B8QB46, F1MJR8, F1QDF8, O35892, O35893, P09015, P15036, P15037, P23497, P52729, P59598, Q32NH9, Q3KRF1, Q3UM89, Q4G112, Q4V7E1, Q5M7N6, Q5ND04, Q5XIV2, Q5ZHX5, Q66IG8, Q6P1R3, Q6PCX9, Q6PJQ5, Q708W2, Q76I76, Q76I79, Q76N89, Q7M6U3, Q8AXQ4, Q8BVK9, Q8IUE0, Q8IUE1, Q8IWB6, Q8IXJ9

Diamond homologs: A0A1B0GTS1, A0A1B0GWH4, B7XIV9, C4V6H6, D0VYS2, G0SB31, G5EFT5, J9VHZ9, O14283, O49403, P10961, P22121, P22335, P22813, P38529, P38530, P38531, P38532, P38533, P41151, P41153, P41154, Q00613, Q02953, Q03933, Q08DJ8, Q10PR4, Q1HGE8, Q1PDN3, Q338B0, Q40152, Q4G112, Q5A4X5, Q5AQ33, Q5CZP2, Q5KMX8, Q5ND04, Q652B0, Q67TP9, Q6F388

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2219 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:149930080:T:C	F146L	0.989
X:149930082:C:A	F146L	0.989
X:149930082:C:G	F146L	0.989
X:149930605:T:C	F168L	0.983
X:149930607:T:A	F168L	0.983
X:149930607:T:G	F168L	0.983
X:149930029:T:C	F129L	0.967
X:149930031:C:A	F129L	0.967
X:149930031:C:G	F129L	0.967
X:149929891:T:C	F83L	0.964
X:149929893:C:A	F83L	0.964
X:149929893:C:G	F83L	0.964
X:149929947:G:C	W101C	0.964
X:149929947:G:T	W101C	0.964
X:149930081:T:C	F146S	0.962
X:149929945:T:A	W101R	0.961
X:149929945:T:C	W101R	0.961
X:149930606:T:C	F168S	0.954
X:149929987:T:C	F115L	0.950
X:149929989:C:A	F115L	0.950
X:149929989:C:G	F115L	0.950
X:149930053:T:C	F137L	0.949
X:149930055:C:A	F137L	0.949
X:149930055:C:G	F137L	0.949
X:149929988:T:C	F115S	0.937
X:149929946:G:C	W101S	0.926
X:149929963:G:C	A107P	0.925
X:149929930:T:C	F96L	0.921
X:149929932:C:A	F96L	0.921
X:149929932:C:G	F96L	0.921

dbSNP variants (sampled 300 via entrez): RS113755057 (X:149931043 G>A), RS1156250773 (X:149927621 G>A), RS1158073401 (X:149930697 A>G), RS1158362848 (X:149929511 C>T), RS1159062414 (X:149930601 C>T), RS1159858353 (X:149929317 T>C), RS1160856199 (X:149930048 C>A,T), RS1161761482 (X:149931285 G>C), RS1162324622 (X:149929966 G>A), RS1163280901 (X:149931176 G>A), RS1163602534 (X:149931164 C>T), RS1163820434 (X:149929853 T>TC), RS1165484315 (X:149930537 G>A), RS1165696593 (X:149929159 C>A,T), RS1166423432 (X:149929009 T>A,C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.