HSPB7

Summary

HSPB7 (heat shock protein family B (small) member 7, HGNC:5249) is a protein-coding gene on chromosome 1p36.13, encoding Heat shock protein beta-7 (Q9UBY9).

This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma.

Source: NCBI Gene 27129 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 44 total
• MANE Select transcript: NM_014424

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5249
Approved symbol	HSPB7
Name	heat shock protein family B (small) member 7
Location	1p36.13
Locus type	gene with protein product
Status	Approved
Aliases	cvHSP
Ensembl gene	ENSG00000173641
Ensembl biotype	protein_coding
OMIM	610692
Entrez	27129

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 retained_intron

ENST00000311890, ENST00000375718, ENST00000406363, ENST00000411503, ENST00000442459, ENST00000463576, ENST00000487046, ENST00000861615, ENST00000861616, ENST00000956995, ENST00000956996, ENST00000956997

RefSeq mRNA: 8 — MANE Select: NM_014424 NM_001349682, NM_001349683, NM_001349685, NM_001349686, NM_001349687, NM_001349688, NM_001349689, NM_014424

CCDS: CCDS30611, CCDS85931, CCDS85932, CCDS85933, CCDS85934

Canonical transcript exons

ENST00000311890 — 3 exons

Exon	Start	End
ENSE00001185530	16017074	16017207
ENSE00001468111	16017765	16018043
ENSE00003907335	16014029	16015759

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 99.93.

FANTOM5 (CAGE): breadth broad, TPM avg 125.7559 / max 17570.2718, expressed in 780 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10509	117.7937	757
10508	5.4478	489
10506	1.6265	105
10505	0.7982	85
10507	0.0853	57
10510	0.0044	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.93	gold quality
apex of heart	UBERON:0002098	99.90	gold quality
heart right ventricle	UBERON:0002080	99.87	gold quality
cardiac ventricle	UBERON:0002082	99.87	gold quality
heart left ventricle	UBERON:0002084	99.87	gold quality
right atrium auricular region	UBERON:0006631	99.81	gold quality
cardiac atrium	UBERON:0002081	99.80	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.79	gold quality
myocardium	UBERON:0002349	99.77	gold quality
gastrocnemius	UBERON:0001388	99.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.60	gold quality
ascending aorta	UBERON:0001496	99.43	gold quality
heart	UBERON:0000948	99.42	gold quality
thoracic aorta	UBERON:0001515	99.41	gold quality
descending thoracic aorta	UBERON:0002345	99.35	gold quality
diaphragm	UBERON:0001103	99.32	gold quality
aorta	UBERON:0000947	99.16	gold quality
vastus lateralis	UBERON:0001379	99.07	gold quality
triceps brachii	UBERON:0001509	99.07	gold quality
popliteal artery	UBERON:0002250	99.06	gold quality
tibial artery	UBERON:0007610	99.06	gold quality
skeletal muscle tissue	UBERON:0001134	99.04	gold quality
right coronary artery	UBERON:0001625	99.02	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.00	gold quality
quadriceps femoris	UBERON:0001377	98.99	gold quality
biceps brachii	UBERON:0001507	98.92	gold quality
tibialis anterior	UBERON:0001385	98.91	gold quality
mucosa of stomach	UBERON:0001199	98.88	gold quality
gluteal muscle	UBERON:0002000	98.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting HSPB7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-1249-5P	99.61	66.55	2049

Literature-anchored findings (GeneRIF, showing 18)

• HSPB7 constitutively localized to SC35 splicing speckles, driven by its N-terminus. Unlike HSPB1 and HSPB5, that chaperoned heat unfolded substrates and kept them folding competent, HSPB7 did not support refolding. (PMID:19464326)
• Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. (PMID:20038796)
• The rs1738943 shows that although this SNP is located within HSPB7, it resides in a block of high LD that spans HSPB7 and a nearby gene, CLCNKA, which encodes a voltage-sensitive chloride channel expressed mainly in the kidney. (PMID:20124441)
• Data show a significant association between a SNP in HSPB7 gene (rs1739843, minor allele frequency 39%) and idiopathic DCM. (PMID:20975947)
• Overexpression of HSPB1, as well as HSPB6, HSPB7 and HSPB8 independently protect against tachycardia remodeling by attenuation of the RhoA GTPase pathway at different levels. (PMID:21731611)
• HSPB7 is a potential early biomarker after MI and serves as an independent risk factor of ACS in patients with acute chest pain. (PMID:22785082)
• Results imply that HSBP7 is likely to be a tumor suppressor gene regulated by p53 and its downregulation by hypermethylation may play a critical role in renal carcinogenesis. (PMID:24585183)
• HSPB7 loci is associated in the pathophysiologuy of ischemic heart failure. (PMID:25889438)
• Patients with central sleep apnea and congestive heart failure had higher T allele frequencies in the HSPB7 gene. (PMID:27441470)
• our findings characterize HSPB7 as an intercalated disc protein and suggest it has an essential role in maintaining intercalated disc integrity and conduction function in the adult heart. (PMID:28827800)
• Loss of Hspb7 in zebrafish or human cardiomyocytes stimulated autophagic pathways and expression of the sister gene encoding Hspb5. Inhibiting autophagy caused FilaminC aggregation in HSPB7 mutant human cardiomyocytes and developmental cardiomyopathy in hspb7 mutant zebrafish embryos. (PMID:29331499)
• SRARP and HSPB7 are tumor suppressors that are commonly inactivated in malignancies. (PMID:29577611)
• HSPB7 Gene Polymorphism Associated with Anthropometric Parameters of Obesity and Fat Intake in a Central European Population. (PMID:30660137)
• HSPB7 regulates osteogenic differentiation of human adipose derived stem cells via ERK signaling pathway. (PMID:33097082)
• Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an Unusual Representative of Small Heat Shock Protein Family. (PMID:33827396)
• Is the small heat shock protein HSPB7 (cvHsp) a genuine actin-binding protein? (PMID:35977674)
• HSPB7 oppositely regulates human mesenchymal stromal cell-derived osteogenesis and adipogenesis. (PMID:37170285)
• Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma progression by inhibiting glycolysis. (PMID:37732539)

Cross-species orthologs

21 orthologs

Organism	Symbol	Gene ID
danio_rerio	hspb7	ENSDARG00000104441
mus_musculus	Hspb7	ENSMUSG00000006221
rattus_norvegicus	Hspb7	ENSRNOG00000029079
drosophila_melanogaster	Hsp22	FBGN0001223
drosophila_melanogaster	Hsp23	FBGN0001224
drosophila_melanogaster	Hsp26	FBGN0001225
drosophila_melanogaster	Hsp67Ba	FBGN0001227
drosophila_melanogaster	Hsp67Bc	FBGN0001229
drosophila_melanogaster	l(2)efl	FBGN0011296
drosophila_melanogaster	CG14207	FBGN0031037
caenorhabditis_elegans		WBGENE00002011
caenorhabditis_elegans		WBGENE00002015
caenorhabditis_elegans		WBGENE00002016
caenorhabditis_elegans		WBGENE00002017
caenorhabditis_elegans		WBGENE00002018
caenorhabditis_elegans		WBGENE00002019
caenorhabditis_elegans		WBGENE00002020
caenorhabditis_elegans		WBGENE00002023
caenorhabditis_elegans		WBGENE00008591
caenorhabditis_elegans		WBGENE00008592
caenorhabditis_elegans	hsp-12.1	WBGENE00011906

Paralogs (8): HSPB6 (ENSG00000004776), HSPB1 (ENSG00000106211), CRYAB (ENSG00000109846), HSPB8 (ENSG00000152137), CRYAA (ENSG00000160202), HSPB3 (ENSG00000169271), HSPB2 (ENSG00000170276), HSPB9 (ENSG00000260325)

Protein

Protein identifiers

Heat shock protein beta-7 — Q9UBY9 (reviewed: Q9UBY9)

Alternative names: Cardiovascular heat shock protein

All UniProt accessions (5): Q9UBY9, C9J5A3, D3YTC6, Q68DG0, Q8N241

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with C-terminal domain of actin-binding protein 280.

Subcellular location. Cytoplasm. Nucleus. Cajal body.

Tissue specificity. Isoform 1 is highly expressed in adult and fetal heart, skeletal muscle, and at a much lower levels in adipose tissue and in aorta. Undetectable in other tissues. Isoform 2 and isoform 3 are poorly detected in heart.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the small heat shock protein (HSP20) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UBY9-1	1	yes
Q9UBY9-2	2
Q9UBY9-3	3

RefSeq proteins (8): NP_001336611, NP_001336612, NP_001336614, NP_001336615, NP_001336616, NP_001336617, NP_001336618, NP_055239* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001436	Alpha-crystallin/sHSP_animal	Family
IPR002068	A-crystallin/Hsp20_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR037885	ACD_HspB7	Domain

Pfam: PF00011

UniProt features (16 total): strand 6, splice variant 3, helix 2, region of interest 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8RHA	X-RAY DIFFRACTION	2.18
8PA0	X-RAY DIFFRACTION	2.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBY9-F1	74.02	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, WWTAAGGC_UNKNOWN, GOBP_CIRCULATORY_SYSTEM_PROCESS, TGACCTY_ERR1_Q2, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GNF2_MYL3, MARTINEZ_RB1_TARGETS_UP, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, TGCTGAY_UNKNOWN, TGANTCA_AP1_C, GOBP_REGULATION_OF_SYSTEM_PROCESS, AFFAR_YY1_TARGETS_DN, GOBP_HEART_PROCESS, MARTINEZ_RB1_AND_TP53_TARGETS_UP, DR3_Q4

GO Biological Process (3): response to unfolded protein (GO:0006986), heart development (GO:0007507), regulation of heart contraction (GO:0008016)

GO Molecular Function (2): filamin binding (GO:0031005), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Cajal body (GO:0015030), actin cytoskeleton (GO:0015629), aggresome (GO:0016235)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
response to topologically incorrect protein	1
animal organ development	1
circulatory system development	1
heart contraction	1
regulation of blood circulation	1
cytoskeletal protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1
cytoskeleton	1
inclusion body	1

Protein interactions and networks

STRING

1076 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSPB7	FLNA	P21333	940
HSPB7	FLNC	Q14315	796
HSPB7	HSPB9	Q9BQS6	787
HSPB7	BAG3	O95817	759
HSPB7	HSPB3	Q12988	689
HSPB7	HSPB8	Q9UJY1	672
HSPB7	CRYAA	P02489	660
HSPB7	ODF1	Q14990	621
HSPB7	CLCNKA	P51800	582
HSPB7	FRMD4B	Q9Y2L6	544
HSPB7	DNAJC5B	Q9UF47	513
HSPB7	HSPA4	P34932	497
HSPB7	IFT25	Q9Y547	484
HSPB7	HSPB2	Q16082	478
HSPB7	HSPB6	O14558	456

IntAct

96 interactions, top by confidence:

A	B	Type	Score
HSPB8	HSPB7	psi-mi:“MI:0915”(physical association)	0.850
HSPB7	HSPB8	psi-mi:“MI:0915”(physical association)	0.850
HSPB7	HSPB8	psi-mi:“MI:2364”(proximity)	0.850
FLNA	HSPB7	psi-mi:“MI:0915”(physical association)	0.780
HSPB7	CEP76	psi-mi:“MI:0915”(physical association)	0.720
HSPB7	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.720
PLEKHF2	HSPB7	psi-mi:“MI:0915”(physical association)	0.720
CEP76	HSPB7	psi-mi:“MI:0915”(physical association)	0.720
TCF4	HSPB7	psi-mi:“MI:0915”(physical association)	0.560
HSPB7	TRIM23	psi-mi:“MI:0915”(physical association)	0.560
HSPB7	REL	psi-mi:“MI:0915”(physical association)	0.560
SF3B4	HSPB7	psi-mi:“MI:0915”(physical association)	0.560
HSPB7	SYCE1	psi-mi:“MI:0915”(physical association)	0.560
PRDM14	HSPB7	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (36): HSPB7 (Two-hybrid), HSPB7 (Two-hybrid), HSPB7 (Two-hybrid), HSPB7 (Two-hybrid), HSPB7 (Two-hybrid), HSPB7 (Two-hybrid), PRDM14 (Two-hybrid), PLEKHF2 (Two-hybrid), CEP76 (Two-hybrid), SYCE1 (Two-hybrid), HSPB7 (Two-hybrid), FLNC (Affinity Capture-MS), FLNA (Affinity Capture-MS), FLNB (Affinity Capture-MS), BPTF (Affinity Capture-MS)

ESM2 similar proteins: A5JV83, O93591, P02487, P02497, P02500, P02506, P02507, P02508, P02509, P02510, P02511, P02512, P04792, P05811, P06904, P09887, P14602, P15990, P15991, P23927, P23928, P24622, P24623, P30218, P30219, P35385, P41316, P42929, P42930, P42931, Q00649, Q05557, Q05713, Q3T149, Q5EAC9, Q5ENY9, Q5R9K0, Q5RAB0, Q5S1U1, Q60HG8

Diamond homologs: O12984, O12988, O13224, O14558, O35878, O73919, O93591, P02470, P02472, P02474, P02476, P02477, P02478, P02479, P02480, P02482, P02484, P02485, P02486, P02487, P02488, P02489, P02492, P02493, P02497, P02502, P02504, P02505, P02510, P02511, P02512, P02513, P02516, P02518, P04792, P05811, P06581, P06582, P14602, P15991

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

565 predictions. Top by Δscore:

Variant	Effect	Δscore
1:16015755:GCCAG:G	acceptor_gain	1.0000
1:16015756:CCAG:C	acceptor_gain	1.0000
1:16015756:CCAGC:C	acceptor_gain	1.0000
1:16015757:CAG:C	acceptor_gain	1.0000
1:16015757:CAGC:C	acceptor_gain	1.0000
1:16015758:AG:A	acceptor_gain	1.0000
1:16015760:C:CC	acceptor_gain	1.0000
1:16017068:GCTCA:G	donor_loss	1.0000
1:16017069:CTCA:C	donor_loss	1.0000
1:16017072:A:C	donor_loss	1.0000
1:16017073:C:CA	donor_loss	1.0000
1:16017073:CCTT:C	donor_gain	1.0000
1:16017204:CGGG:C	acceptor_gain	1.0000
1:16015719:T:C	acceptor_gain	0.9900
1:16015758:A:T	acceptor_gain	0.9900
1:16017208:C:CC	acceptor_gain	0.9900
1:16018629:C:CA	donor_gain	0.9900
1:16015582:A:AC	donor_gain	0.9800
1:16017205:GGG:G	acceptor_gain	0.9800
1:16017206:GG:G	acceptor_gain	0.9800
1:16015583:G:C	donor_gain	0.9700
1:16015719:T:TC	acceptor_gain	0.9700
1:16017205:GGGCT:G	acceptor_loss	0.9700
1:16017206:GGCTG:G	acceptor_loss	0.9700
1:16017207:GC:G	acceptor_loss	0.9700
1:16017209:T:G	acceptor_loss	0.9700
1:16017218:GGCTG:G	acceptor_gain	0.9700
1:16017072:A:AC	donor_gain	0.9600
1:16017073:C:CC	donor_gain	0.9600
1:16017203:GCGGG:G	acceptor_gain	0.9600

AlphaMissense

1109 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:16015653:A:G	L147P	1.000
1:16017081:G:T	A109D	1.000
1:16017114:A:T	V98D	1.000
1:16017134:G:C	F91L	1.000
1:16017134:G:T	F91L	1.000
1:16017135:A:G	F91S	1.000
1:16017136:A:G	F91L	1.000
1:16015647:A:T	I149N	0.999
1:16015653:A:T	L147H	0.999
1:16015746:C:A	G116V	0.999
1:16017082:C:G	A109P	0.999
1:16017087:A:T	V107E	0.999
1:16017093:A:T	I105N	0.999
1:16017156:A:G	F84S	0.999
1:16015647:A:C	I149S	0.998
1:16015687:A:G	S136P	0.998
1:16015710:A:G	L128P	0.998
1:16015710:A:T	L128Q	0.998
1:16015728:A:G	F122S	0.998
1:16017106:A:G	S101P	0.998
1:16017114:A:C	V98G	0.998
1:16017120:A:C	I96S	0.998
1:16017120:A:T	I96N	0.998
1:16017123:T:A	D95V	0.998
1:16017135:A:C	F91C	0.998
1:16017136:A:T	F91I	0.998
1:16015647:A:G	I149T	0.997
1:16015683:A:T	V137E	0.997
1:16015707:G:T	P129Q	0.997
1:16017093:A:C	I105S	0.997

dbSNP variants (sampled 300 via entrez): RS1000133857 (1:16014592 G>C), RS1000337469 (1:16019848 A>G), RS1000504668 (1:16020106 A>G), RS1000561368 (1:16015561 A>C), RS1000849267 (1:16015276 G>A,T), RS1000959705 (1:16019871 T>C), RS1001906145 (1:16014882 C>A), RS1001917449 (1:16014618 G>A,C,T), RS1002179562 (1:16019474 T>C), RS1002801855 (1:16020150 A>T), RS1003262370 (1:16018538 T>C), RS1004138452 (1:16020138 T>C), RS1004253527 (1:16020383 A>T), RS1004743187 (1:16017418 C>T), RS1004882925 (1:16015880 C>T)

Disease associations

OMIM: gene MIM:610692 | disease phenotypes: MIM:157900

GenCC curated gene-disease

Mondo (1): Mobius syndrome (MONDO:0008006)

Orphanet (1): Moebius syndrome (Orphanet:570)

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST004776_31	Systolic blood pressure	7.000000e-12
GCST004776_81	Systolic blood pressure	8.000000e-07
GCST006956_22	Erectile dysfunction	3.000000e-06
GCST008403_31	Arterial stiffness index	6.000000e-06
GCST010796_4092	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-17
GCST010796_4093	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-13
GCST010796_4094	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-20
GCST010797_1	Breast cancer, ovarian cancer or prostate cancer (pleiotropy)	7.000000e-09
GCST011205_5	Hypertrophic cardiomyopathy (MTAG)	7.000000e-13
GCST011211_1	Hypertrophic cardiomyopathy	2.000000e-21
GCST012099_1	Hypertrophic cardiomyopathy (sarcomere negative)	2.000000e-13
GCST012100_14	Hypertrophic cardiomyopathy (sarcomere positive)	1.000000e-06
GCST012101_1	Hypertrophic cardiomyopathy	3.000000e-17

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004517	arterial stiffness measurement
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020331	Mobius Syndrome	C07.465.299.825; C10.292.319.825; C10.292.562.700.375.750; C11.590.436.400.750; C16.131.077.578; C16.614.595

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Doxorubicin	affects expression	2
hydroxyhydroquinone	decreases expression	1
trimellitic anhydride	decreases expression	1
sulforaphane	decreases expression	1
1-hydroxypyrene	affects cotreatment, decreases methylation	1
epigallocatechin gallate	decreases expression	1
K 7174	decreases expression	1
quinocetone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Bleomycin	affects expression	1
Folic Acid	affects expression	1
Indomethacin	decreases expression, affects cotreatment	1
Nickel	decreases expression	1
Niclosamide	increases expression	1
Pantothenic Acid	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1
Metals, Heavy	decreases methylation, affects cotreatment	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03059420	Not specified	RECRUITING	Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies