AHSP

Summary

AHSP (alpha hemoglobin stabilizing protein, HGNC:18075) is a protein-coding gene on chromosome 16p11.2, encoding Alpha-hemoglobin-stabilizing protein (Q9NZD4). Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development.

This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 51327 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 24 total — 2 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_016633

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18075
Approved symbol	AHSP
Name	alpha hemoglobin stabilizing protein
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	EDRF
Ensembl gene	ENSG00000169877
Ensembl biotype	protein_coding
OMIM	605821
Entrez	51327

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000302312, ENST00000564707, ENST00000569954, ENST00000933142, ENST00000933143

RefSeq mRNA: 3 — MANE Select: NM_016633 NM_001318221, NM_001318222, NM_016633

CCDS: CCDS10716

Canonical transcript exons

ENST00000302312 — 3 exons

Exon	Start	End
ENSE00001171596	31527900	31527962
ENSE00001171609	31528136	31528214
ENSE00003693244	31528458	31528803

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 99.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 18.1422 / max 12691.0323, expressed in 143 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153844	16.5029	135
153843	1.6393	84

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	99.75	gold quality
bone marrow cell	CL:0002092	98.96	gold quality
bone marrow	UBERON:0002371	98.89	gold quality
monocyte	CL:0000576	94.32	gold quality
mononuclear cell	CL:0000842	94.31	gold quality
blood	UBERON:0000178	93.74	gold quality
leukocyte	CL:0000738	89.15	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.17	silver quality
adrenal tissue	UBERON:0018303	83.66	gold quality
olfactory bulb	UBERON:0002264	72.73	gold quality
type B pancreatic cell	CL:0000169	72.69	gold quality
spleen	UBERON:0002106	71.58	gold quality
placenta	UBERON:0001987	71.21	gold quality
embryo	UBERON:0000922	70.80	gold quality
pancreatic ductal cell	CL:0002079	70.54	silver quality
ganglionic eminence	UBERON:0004023	70.14	gold quality
right testis	UBERON:0004534	69.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	68.97	gold quality
periodontal ligament	UBERON:0008266	67.59	silver quality
left testis	UBERON:0004533	67.51	gold quality
testis	UBERON:0000473	65.85	gold quality
jejunal mucosa	UBERON:0000399	63.82	gold quality
cervix squamous epithelium	UBERON:0006922	62.95	gold quality
amniotic fluid	UBERON:0000173	61.18	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	60.63	gold quality
tibialis anterior	UBERON:0001385	60.58	silver quality
right lobe of liver	UBERON:0001114	60.33	gold quality
vena cava	UBERON:0004087	57.90	gold quality
nasal cavity mucosa	UBERON:0001826	57.79	gold quality
parotid gland	UBERON:0001831	57.53	gold quality

Single-cell (SCXA)

Detected in 24 experiment(s), a significant marker in 24.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	9814.33
E-CURD-98	yes	8639.76
E-MTAB-7407	yes	7711.26
E-HCAD-4	yes	7592.90
E-CURD-112	yes	6530.76
E-MTAB-8221	yes	5773.94
E-CURD-122	yes	5348.53
E-MTAB-6701	yes	5175.40
E-HCAD-9	yes	4487.08
E-MTAB-9221	yes	4004.31
E-CURD-79	yes	3103.66
E-MTAB-9067	yes	3037.69
E-MTAB-10432	yes	2837.95
E-MTAB-8884	yes	2314.39
E-HCAD-24	yes	2169.52

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXC1, GATA1, KLF1, NFE2, POU2F1, RBPJ

miRNA regulators (miRDB)

5 targeting AHSP, 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-8080	99.82	67.52	1342
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-3663-5P	97.01	64.84	713

Literature-anchored findings (GeneRIF, showing 35)

• An abundant erythroid protein that stabilizes free alpha-haemoglobin. (PMID:12066189)
• determination as a predominantly alpha-helical globular protein with a somewhat asymmetric shape (PMID:12192002)
• progesterone, corticotropin-releasing factor, and activin A have roles in paracrine regulation of endometrial function [review] (PMID:14667971)
• Using gene mapping, direct genomic sequencing, and extended haplotype analysis, no mutation or specific association between haplotypes of AHSP and disease severity was found, suggesting that AHSP is not a disease modifier in Hb E-beta thalassemia (PMID:14715623)
• AHSP is a chaperone for transfer of human alpha- to beta-hemoglobin (PMID:15220346)
• identified an AHSP gene erythroid promoter with functionally important binding sites for GATA-1- and Oct-1-related proteins (PMID:16186125)
• Review. AHSP specifically binds free alphaHb, stabilizes its structure, & limits its ability to generate reactive oxygen species. It binds the G & H helices of alphaHb on a surface that largely overlaps with the alpha1-beta1 interface of HbA. (PMID:16339656)
• results reveal a plasticity of the alpha-Hb active site in the presence of the chaperone AHSP and indicate that the AHSP was still active at 300 MPa (PMID:17194704)
• The 12391 G>A SNP is common and represents a potential mechanism through which genetically determined variations in AHSP expression could influence beta-thalassemia. (PMID:17874450)
• the alpha2-globin mutation cod 117 TTC>TCC or alpha 117(GH5)Phe>Ser impairs the interaction of the alpha-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the alpha-chain pool reduction (PMID:18166800)
• The AHSP stabilizes the alphaHb chain, avoiding its precipitation and its ability to generate ROS, which implicate in cell death.Data indicate that AHSP may be significant for human hemoglobin formation and it is a key protein during human erythropoiesis. (PMID:18179859)
• Placental AHSP mRNA level in HELLP & intrauterine fetal death were significantly decreased compared with controls. It may be involved in the pathogenic mechanisms leading to the adverse pregnancy outcome. (PMID:18347943)
• An iron responsive element-like stem-loop regulates alpha-hemoglobin-stabilizing protein mRNA. (PMID:18676996)
• Reduced AHSP may identify women at risk of experiencing further miscarriages. (PMID:18704762)
• AHSP promotes alpha globin chain stability during human erythropoiesis (PMID:19349619)
• Different mechanisms may be responsible for the amount of abnormal Hb recovered, such as a highly unstable alpha chain or an impaired formation of the complex AHSP/alpha-Hb or a modification of the alphabeta dimer formation. (PMID:19482015)
• A cis-proline in alpha-hemoglobin stabilizing protein directs the structural reorganization of alpha-hemoglobin. (PMID:19706593)
• Studies indicate that the interaction of alpha-Hb with AHSP involves surfaces normally employed in binding to beta-Hb. (PMID:20036801)
• analysis of the action of a human mutant, AHSPV56G, of alpha-hemoglobin stabilizing protein (AHSP) (PMID:20371604)
• No significant association has been found between specific AHSP alleles or haplotypes and the disease severity of beta-thalassemia. Our study suggested that AHSP is not a significant genetic modifier of beta-thalassemia in southern China. (PMID:20627634)
• Overexpression of human AHSP & 2 mutant versions with AA substitutions confering 3- or 13-fold higher affinity for alpha-globin had no major effects on hematologic parameters in beta-thalassemic mice. (PMID:20815047)
• NF-E2 may play an important role in AHSP gene regulation, providing new insights into the molecular mechanisms underlying the erythroid-specific expression of AHSP as well as new possibilities for beta-thalassemia treatment (PMID:21232177)
• AHSP could be a secondary compensatory mechanism in red blood cells to counterbalance the excess of alpha-globin chains in HbE/beta-thalassaemia individuals. (PMID:22079025)
• AHSP acts as a molecular chaperone by rapidly binding and stabilizing met-alpha hemichrome folding intermediates (PMID:22298770)
• alpha-Hemoglobin stabilizing protein (AHSP) markedly decreases the redox potential and reactivity of alpha-subunits of human HbA with hydrogen peroxide. (PMID:23264625)
• alpha-Hemoglobin-stabilizing protein (AHSP) perturbs the proximal heme pocket of oxy-alpha-hemoglobin and weakens the iron-oxygen bond. (PMID:23696640)
• analysis showed binding of STAT3 to AHSP promoter and binding was significantly augmented with IL6 stimulation and upon alpha-globin overexpression (PMID:24740453)
• The relationship between AHSP gene expression, disease severity, and the beta/alpha globin mRNA ratio was studied among different homozygote beta-thalassemia patients. (PMID:24795058)
• AHSP is predominantly expressed in erythroid precursors in bone marrow biopsy specimens from patients with hematologic malignancies. (PMID:25611244)
• In maturing RBC progenitors AHSP bind to free alpha-globin chains to increase the HbA production. (Review) (PMID:25648458)
• AHSP expression was higher in patients with sickle cell anemia versus thalassemia, with no significant difference between BTM and BTI. Expression was higher in patients with NTDT and on hydroxyurea therapy. (PMID:26460260)
• In the presence of free alpha subunits and H2O2, both HbA and HbE showed bCys93 oxidation which increased with higher H2O2 concentrations. In the presence of Alpha-hemoglobin stabilizing protein (AHSP)Cys93 oxidation was substantially reduced in both proteins.in the presence of excess free alpha-subunit and under the same oxidative conditions, these events are substantially increased for HbE compared to HbA (PMID:26995402)
• Findings indicate that alpha-hemoglobin-stabilizing protein (AHSP) expression is a biomarker of hemoglobin H (HbH) disease severity and infer an important role of AHSP in modulating the pathophysiology of this disease. (PMID:28337528)
• The study documents that among the HbE beta thalassemia patients with varying severity, an exon mutation in AHSP is significantly prevalent only among the transfusion-dependent beta-thalassemia patients. (PMID:31190133)
• Alpha haemoglobin-stabilising protein concentration in the red blood cells of patients with sickle cell anaemia with and without hydroxycarbamide treatment. (PMID:34378186)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ahsp	ENSMUSG00000121605
rattus_norvegicus	Ahsp	ENSRNOG00000020165

Protein

Protein identifiers

Alpha-hemoglobin-stabilizing protein — Q9NZD4 (reviewed: Q9NZD4)

Alternative names: Erythroid differentiation-related factor, Erythroid-associated factor

All UniProt accessions (3): Q9NZD4, H3BSK6, Q549J4

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia.

Subunit / interactions. Monomer. Forms a heterodimer with free alpha-hemoglobin. Does not bind beta-hemoglobin nor alpha(2)beta(2) hemoglobin A.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in blood and bone marrow.

Induction. By GATA1 during erythroid maturation.

Similarity. Belongs to the AHSP family.

RefSeq proteins (3): NP_001305150, NP_001305151, NP_057717* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015317	A_Hb_stabilising_prot	Family
IPR036468	AHSP_sf	Homologous_superfamily

Pfam: PF09236

UniProt features (10 total): helix 4, sequence conflict 2, chain 1, sequence variant 1, turn 1, strand 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
1Z8U	X-RAY DIFFRACTION	2.4
1Y01	X-RAY DIFFRACTION	2.8
3OVU	X-RAY DIFFRACTION	2.83
3IA3	X-RAY DIFFRACTION	3.2
1W09	SOLUTION NMR
1W0A	SOLUTION NMR
1W0B	SOLUTION NMR
1XZY	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZD4-F1	91.37	0.81

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_HEMOGLOBIN_METABOLIC_PROCESS, GNF2_PRDX2, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_ERYTHROCYTE_HOMEOSTASIS, GNF2_ANK1, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_STABILIZATION, chr16p11, GNF2_SPTA1, GOBP_PROTEIN_FOLDING

GO Biological Process (5): protein folding (GO:0006457), hemoglobin metabolic process (GO:0020027), hemopoiesis (GO:0030097), erythrocyte differentiation (GO:0030218), protein stabilization (GO:0050821)

GO Molecular Function (3): hemoglobin binding (GO:0030492), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), hemoglobin complex (GO:0005833)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
protein maturation	1
protein metabolic process	1
cell development	1
myeloid cell differentiation	1
erythrocyte homeostasis	1
regulation of protein stability	1
protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytosol	1
protein-containing complex	1

Protein interactions and networks

STRING

562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AHSP	HBE1	P02100	868
AHSP	GATA1	P15976	784
AHSP	HBB	P02023	779
AHSP	ALAS2	P22557	629
AHSP	GYPE	P15421	627
AHSP	KLF1	Q13351	608
AHSP	HBD	P02042	576
AHSP	EPB42	P16452	570
AHSP	NGB	Q9NPG2	540
AHSP	BCL11A	Q9H165	539
AHSP	SLC4A1	P02730	533
AHSP	HBA1	P01922	508
AHSP	GYPA	P02724	505
AHSP	A0A0J9YYA3	A0A0J9YYA3	490
AHSP	HMGXB4	Q9UGU5	480

IntAct

32 interactions, top by confidence:

A	B	Type	Score
AHSP	HBA1	psi-mi:“MI:0407”(direct interaction)	0.710
HBA1	AHSP	psi-mi:“MI:0407”(direct interaction)	0.710
AHSP	ZC3H12A	psi-mi:“MI:0915”(physical association)	0.670
FKBP1A	AHSP	psi-mi:“MI:0915”(physical association)	0.560
AHSP	UBE3A	psi-mi:“MI:0915”(physical association)	0.560
UBE3A	AHSP	psi-mi:“MI:0915”(physical association)	0.560
AHSP	FKBP1A	psi-mi:“MI:0915”(physical association)	0.560
CLVS1	AHSP	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	AHSP	psi-mi:“MI:0915”(physical association)	0.560
ZNF20	AHSP	psi-mi:“MI:0915”(physical association)	0.560
AHSP	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
AHSP	TTLL4	psi-mi:“MI:0914”(association)	0.530
GREM2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
AHSP	TMEM165	psi-mi:“MI:0915”(physical association)	0.370
AHSP	RP2	psi-mi:“MI:0914”(association)	0.350
AHSP	GMFB	psi-mi:“MI:0914”(association)	0.350
ZNF428	ANXA2	psi-mi:“MI:0914”(association)	0.350
AHSP	VPS9D1	psi-mi:“MI:0915”(physical association)	0.000
CLVS1	AHSP	psi-mi:“MI:0915”(physical association)	0.000
PSMB1	AHSP	psi-mi:“MI:0915”(physical association)	0.000
AHSP	ZNF20	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): AHSP (Two-hybrid), AHSP (Two-hybrid), ZC3H12A (Two-hybrid), ZC3H12A (Two-hybrid), AHSP (Two-hybrid), AHSP (Two-hybrid), AHSP (Two-hybrid), AHSP (Two-hybrid), CLVS1 (Two-hybrid), AHSP (Negative Genetic), CDK12 (Affinity Capture-MS), PKP3 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), RP2 (Affinity Capture-MS), AHSP (Affinity Capture-Western)

ESM2 similar proteins: A3KQI3, A7Z2G8, B2VJD3, B4EYQ7, B4F2D7, C5DGT3, C5E4I6, D4GGV4, D4HVG6, O14285, O31799, O32124, O34201, O62238, P13741, P24445, P25649, P59992, P72673, P74103, P85939, P86230, Q06162, Q07PD0, Q197A4, Q29S20, Q2TBY0, Q3E7Y6, Q44177, Q4R8E8, Q55670, Q5GA89, Q5ZV91, Q6CP44, Q6CPF9, Q6FJ19, Q6PEB9, Q758R8, Q7VI02, Q865F8

Diamond homologs: Q865F8, Q9CY02, Q9NZD4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
HBB	“down-regulates activity”	AHSP
HBA1	“down-regulates activity”	AHSP
AHSP	“up-regulates quantity by stabilization”	HBA1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	17
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	Pathogenic
152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	Pathogenic
395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	Likely pathogenic

SpliceAI

246 predictions. Top by Δscore:

Variant	Effect	Δscore
16:31528131:CCCA:C	acceptor_loss	1.0000
16:31528132:CCAGG:C	acceptor_loss	1.0000
16:31528133:CA:C	acceptor_loss	1.0000
16:31528134:A:AC	acceptor_loss	1.0000
16:31528134:A:AG	acceptor_gain	1.0000
16:31528135:G:GA	acceptor_loss	1.0000
16:31528135:G:GG	acceptor_gain	1.0000
16:31528135:GGCA:G	acceptor_gain	1.0000
16:31528211:GCAG:G	donor_gain	1.0000
16:31528212:CAGG:C	donor_loss	1.0000
16:31528214:GGTG:G	donor_loss	1.0000
16:31528215:G:GA	donor_loss	1.0000
16:31528215:G:GG	donor_gain	1.0000
16:31528453:CCCAG:C	acceptor_loss	1.0000
16:31528454:CCA:C	acceptor_loss	1.0000
16:31528456:AGG:A	acceptor_loss	1.0000
16:31528131:C:G	acceptor_gain	0.9900
16:31528134:AG:A	acceptor_gain	0.9900
16:31528135:GG:G	acceptor_gain	0.9900
16:31528135:GGC:G	acceptor_gain	0.9900
16:31528434:AACT:A	acceptor_gain	0.9900
16:31528437:T:A	acceptor_gain	0.9900
16:31528445:C:CA	acceptor_gain	0.9900
16:31528448:A:AG	acceptor_gain	0.9900
16:31528449:A:G	acceptor_gain	0.9900
16:31528130:A:AG	acceptor_gain	0.9800
16:31528434:A:AG	acceptor_gain	0.9800
16:31528456:A:AG	acceptor_gain	0.9800
16:31528457:G:GG	acceptor_gain	0.9800
16:31528457:GGT:G	acceptor_gain	0.9800

AlphaMissense

672 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:31528512:T:A	W44R	0.979
16:31528512:T:C	W44R	0.979
16:31528191:T:C	F18L	0.976
16:31528193:C:A	F18L	0.976
16:31528193:C:G	F18L	0.976
16:31528603:T:C	L74P	0.972
16:31528591:T:C	L70P	0.969
16:31528192:T:C	F18S	0.967
16:31528635:T:G	Y85D	0.967
16:31528514:G:C	W44C	0.961
16:31528514:G:T	W44C	0.961
16:31528623:T:C	F81L	0.956
16:31528625:C:A	F81L	0.956
16:31528625:C:G	F81L	0.956
16:31528204:T:C	L22P	0.947
16:31528159:A:T	N7I	0.946
16:31528624:T:C	F81S	0.928
16:31528636:A:C	Y85S	0.923
16:31528192:T:G	F18C	0.922
16:31528201:T:C	L21P	0.922
16:31528180:G:A	G14E	0.916
16:31528603:T:G	L74R	0.916
16:31528635:T:C	Y85H	0.916
16:31528603:T:A	L74Q	0.913
16:31528624:T:G	F81C	0.910
16:31528179:G:A	G14R	0.904
16:31528179:G:C	G14R	0.904
16:31528524:T:G	Y48D	0.899
16:31528160:T:A	N7K	0.891
16:31528160:T:G	N7K	0.891

dbSNP variants (sampled 300 via entrez): RS1000930968 (16:31526859 T>G), RS1001004192 (16:31526181 A>G), RS1001559594 (16:31526553 C>T), RS1003586008 (16:31529125 C>A,T), RS1003923928 (16:31526419 G>T), RS1003952357 (16:31528325 A>ACAAC), RS1004927603 (16:31527886 A>G), RS1005119737 (16:31529290 A>C,G), RS1008163477 (16:31526825 T>A), RS1008203475 (16:31526129 A>C,G), RS1008536929 (16:31527654 A>G), RS1009580562 (16:31528400 C>T), RS1009703229 (16:31526981 T>C), RS1010635787 (16:31529050 C>T), RS1011092312 (16:31528620 C>A,G)

Disease associations

OMIM: gene MIM:605821 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases methylation	1
Benzo(a)pyrene	affects methylation	1
Iron	affects stability, affects binding, affects folding	1
Isotretinoin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
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