IGFALS

Summary

IGFALS (insulin like growth factor binding protein acid labile subunit, HGNC:5468) is a protein-coding gene on chromosome 16p13.3, encoding Insulin-like growth factor-binding protein complex acid labile subunit (P35858). Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 3483 — RefSeq curated summary.

At a glance

• Gene–disease (curated): short stature due to primary acid-labile subunit deficiency (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 306 total — 3 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 10
• MANE Select transcript: NM_004970

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5468
Approved symbol	IGFALS
Name	insulin like growth factor binding protein acid labile subunit
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	ALS
Ensembl gene	ENSG00000099769
Ensembl biotype	protein_coding
OMIM	601489
Entrez	3483

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000215539, ENST00000415638, ENST00000568221, ENST00000897144, ENST00000897145

RefSeq mRNA: 2 — MANE Select: NM_004970 NM_001146006, NM_004970

CCDS: CCDS10446, CCDS53982

Canonical transcript exons

ENST00000215539 — 2 exons

Exon	Start	End
ENSE00000656165	1790413	1792401
ENSE00002586149	1793637	1793705

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 95.67.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1771 / max 93.1852, expressed in 17 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155870	0.3068	24
155871	0.1771	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	95.67	gold quality
liver	UBERON:0002107	91.40	gold quality
parotid gland	UBERON:0001831	84.36	silver quality
inferior olivary complex	UBERON:0002127	82.63	silver quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	82.24	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	77.98	silver quality
vena cava	UBERON:0004087	77.93	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	77.26	silver quality
cardia of stomach	UBERON:0001162	75.28	silver quality
frontal pole	UBERON:0002795	74.99	gold quality
triceps brachii	UBERON:0001509	74.92	gold quality
pons	UBERON:0000988	74.85	gold quality
gluteal muscle	UBERON:0002000	74.84	gold quality
paraflocculus	UBERON:0005351	74.83	gold quality
biceps brachii	UBERON:0001507	74.32	silver quality
body of stomach	UBERON:0001161	74.26	gold quality
middle frontal gyrus	UBERON:0002702	74.19	gold quality
fundus of stomach	UBERON:0001160	73.93	gold quality
medulla oblongata	UBERON:0001896	73.78	silver quality
cerebellar vermis	UBERON:0004720	73.62	gold quality
pericardium	UBERON:0002407	73.41	silver quality
inferior vagus X ganglion	UBERON:0005363	72.81	gold quality
Brodmann (1909) area 10	UBERON:0013541	72.39	gold quality
middle temporal gyrus	UBERON:0002771	72.24	silver quality
substantia nigra pars compacta	UBERON:0001965	72.14	silver quality
substantia nigra pars reticulata	UBERON:0001966	71.65	silver quality
stomach	UBERON:0000945	71.28	gold quality
vastus lateralis	UBERON:0001379	71.20	gold quality
oocyte	CL:0000023	71.13	silver quality
endometrium epithelium	UBERON:0004811	70.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

4 targeting IGFALS, 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-5004-5P	99.68	66.63	1294
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-6784-5P	84.56	60.91	126

Literature-anchored findings (GeneRIF, showing 32)

• Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly. (PMID:11914026)
• serum acid labile subunit levels were elevated in girls with central precocious puberty and decreased significantly during the first year of GnRH analog therapy (PMID:12364447)
• Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy (PMID:14762184)
• Key role of ALS in regulating transendothelial IGF transport. (PMID:15126567)
• A modest reduction in post-natal growth in the null ALS mice and in the ALS-deficient patients was observed (PMID:16114275)
• polymorphisms in the IGF-1R and IGFBP3 genes, but not IGF-1 or IGFALS, may be associated with altered survival among subgroups of breast cancer patients defined by menopausal status (PMID:17063263)
• haploinsufficiency of the IGFALS gene has no discernible clinical effects (PMID:17726072)
• Primary ALS deficiency due to IGFALS mutations should be considered as a possible cause of postnatal growth deficit in IGF-I-deficient patients in the absence of GH deficiency or insensitivity. (PMID:18303074)
• IGFALS sequence variants are unlikely to be a common association with pubertal delay in children with constitutional delay of groth and puberty. (PMID:18362293)
• The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly. (PMID:18463107)
• Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. (PMID:19129715)
• Serum levels of IGF-1, IGF-2, ALS, and IGFBP-3 were reduced in children with congenital disorders of glycosylation. (PMID:19207313)
• 14 different mutations of human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with very low serum levels of IGF-I & IGFBP-3 that remain low upon growth hormone stimulation[review] (PMID:19729943)
• Plasma acid-labile subunit is positively associated with prostate cancer risk, and may interact biologically with IGF-I to affect carcinogenesis (PMID:20142246)
• Findings suggest that common genetic variation in the ALS gene is not related to IGF-I levels and mammographic density. (PMID:20155489)
• Heterozygosity for IGFALS mutations results in approximately 1.0SD height loss compared to wild type. (PMID:20591980)
• Common genetic variation in the IGF1 and SSTR5 genes seems to influence circulating IGF-I levels (PMID:20810604)
• We describe that the human placenta expresses the mRNA and the protein for ALS, and we observed an increase in ALS mRNA expression and protein content in small compared with appropriate for gestational age placentas. (PMID:20943791)
• D440N mutation in ALS generates a hyperglycosylated form with impaired secretion and complex formation, potentially leading to dysregulation of endocrine IGF, thus contributing to growth retardation (PMID:21177759)
• low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function. (PMID:21664162)
• Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with growth hormone insensitivity. (PMID:22678306)
• functional analysis supported a tumor-suppressive function for IGFALS in vitro. (PMID:22689435)
• A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family. (PMID:23488611)
• Heterozygous IGFALS gene variants could be responsible for short stature in a subset of idiopathic short stature children with diminished levels of IGF-1, IGFBP-3 and ALS. (PMID:24335034)
• These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion. (PMID:24423360)
• Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review] (PMID:26704943)
• The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants. (PMID:27018247)
• To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II. (PMID:28249955)
• Previously characterized disease-causing mutations in IGF2, IGF1R, IGF2R, or IGFALS all were found in the general population but with allele frequencies of <1:30,000. (PMID:28389567)
• Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature. (PMID:31834863)
• Virus-inducible IGFALS facilitates innate immune responses by mediating IRAK1 and TRAF6 activation. (PMID:33664485)
• [Liver Tissue-specific Genes IGFALS,CYP3A4,SLC22A1 and CYP2E1 May be Associated with Poor Prognosis of Liver Cancer]. (PMID:34238413)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	igfals	ENSDARG00000037836
mus_musculus	Igfals	ENSMUSG00000046070
rattus_norvegicus	Igfals	ENSRNOG00000015061

Paralogs (22): TLR8 (ENSG00000101916), LRRC17 (ENSG00000128606), RXFP2 (ENSG00000133105), CD180 (ENSG00000134061), TLR4 (ENSG00000136869), TLR2 (ENSG00000137462), LRRC32 (ENSG00000137507), LRRC3 (ENSG00000160233), LRRC53 (ENSG00000162621), TLR3 (ENSG00000164342), VASN (ENSG00000168140), RXFP1 (ENSG00000171509), NRROS (ENSG00000174004), TLR10 (ENSG00000174123), TLR1 (ENSG00000174125), TLR6 (ENSG00000174130), LRRC3B (ENSG00000179796), TSKU (ENSG00000182704), TLR5 (ENSG00000187554), TLR7 (ENSG00000196664), LRIT2 (ENSG00000204033), LRRC3C (ENSG00000204913)

Protein

Protein identifiers

Insulin-like growth factor-binding protein complex acid labile subunit — P35858 (reviewed: P35858)

All UniProt accessions (2): P35858, H3BSX8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.

Subunit / interactions. Forms a ternary complex with IGF1 and IGFBP3.

Subcellular location. Secreted. Extracellular space.

Tissue specificity. Plasma.

Disease relevance. Acid-labile subunit deficiency (ACLSD) [MIM:615961] A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
P35858-1	1	yes
P35858-2	2

RefSeq proteins (2): NP_001139478, NP_004961* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000372	LRRNT	Domain
IPR000483	Cys-rich_flank_reg_C	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050328	Dev_Immune_Receptor	Family

Pfam: PF00560, PF01462, PF13855

UniProt features (50 total): repeat 19, sequence variant 14, glycosylation site 6, disulfide bond 5, domain 2, signal peptide 1, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7WRQ	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35858-F1	91.13	0.87

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (5): 41–47, 45–60, 540–583, 542–605, 566–571

Glycosylation sites (6): 64, 85, 96, 368, 515, 580

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 93 (showing top): GNF2_GSTM1, GNF2_HPN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GNF2_LCAT, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, CAIRO_HEPATOBLASTOMA_DN, GNF2_HPX, DBP_Q6, IK3_01, GNF2_IGF1, LEE_LIVER_CANCER_MYC_TGFA_DN, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GNF2_TST

GO Biological Process (2): cell adhesion (GO:0007155), signal transduction (GO:0007165)

GO Molecular Function (3): insulin-like growth factor binding (GO:0005520), signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), insulin-like growth factor ternary complex (GO:0042567), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
growth factor binding	1
molecular transducer activity	1
binding	1
cellular anatomical structure	1
insulin-like growth factor binding protein complex	1
extracellular vesicle	1

Protein interactions and networks

STRING

1628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IGFALS	IGFBP3	P17936	994
IGFALS	IGFBP5	P24593	966
IGFALS	IGF1	P01343	951
IGFALS	IGFBP2	P18065	776
IGFALS	IGFBP6	P24592	767
IGFALS	IGF2	P01344	767
IGFALS	IGFBP4	P22692	676
IGFALS	IGFBP1	P08833	672
IGFALS	GHR	P10912	621
IGFALS	STAT5B	P51692	513
IGFALS	CEMIP2	Q9UHN6	499
IGFALS	SHOX	O15266	498
IGFALS	NR0B1	P51843	497
IGFALS	ZBTB20	Q9HC78	490
IGFALS	ANKAR	Q7Z5J8	482

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
GOLGA6L2	GOLGA6L6	psi-mi:“MI:0914”(association)	0.350
IGFALS	HSPA5	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350

BioGRID (14): IGFALS (Co-fractionation), IGFALS (Affinity Capture-RNA), IGFALS (Affinity Capture-Western), ZBTB33 (Affinity Capture-MS), IGFALS (Affinity Capture-MS), WDR25 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), SEL1L (Affinity Capture-MS), IGFBP3 (Reconstituted Complex), IGFBP5 (Reconstituted Complex), IGFBP3 (Reconstituted Complex), IGFALS (Negative Genetic), IGFALS (Negative Genetic)

ESM2 similar proteins: A1A4H9, A4IFA6, E7FE13, G3XA59, O02833, O08742, O08770, O14498, P02750, P22792, P35858, P35859, P40197, P59383, P70389, Q14392, Q149C3, Q28680, Q2EEY0, Q3ZBI5, Q5BK65, Q5I2M3, Q5I2M4, Q5I2M5, Q5I2M7, Q5I2M8, Q5NVQ6, Q5RF01, Q6EMK4, Q6P7C4, Q6QMY6, Q6QNU9, Q6R5P0, Q6UY18, Q80ZD5, Q86WK7, Q86YC3, Q8BGX3, Q8BMT4, Q8BXQ3

Diamond homologs: A3KNN3, A6H789, A6H793, A6NJW4, A8WHP9, E7FE13, F1MLX5, G5EFX6, O02678, O02833, O35367, O46378, O46379, O46542, O60938, O62702, O75093, O75094, O88279, O88280, O94813, P07359, P07585, P21793, P24014, P28654, P28675, P35858, P35859, P51884, P51885, P51886, P51888, P51890, P58874, P59034, P59035, P70186, P70389, P83286

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	9
Uncertain significance	224
Likely benign	38
Benign	16

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1068339	NM_004970.3(IGFALS):c.103dup (p.Glu35fs)	Pathogenic
8127	NM_004970.3(IGFALS):c.103del (p.Glu35fs)	Pathogenic
8128	NM_004970.3(IGFALS):c.1618T>C (p.Cys540Arg)	Pathogenic
2671885	NM_004970.3(IGFALS):c.2T>A (p.Met1Lys)	Likely pathogenic
280144	NM_004970.3(IGFALS):c.1291del (p.Trp431fs)	Likely pathogenic
318251	NM_004970.3(IGFALS):c.827A>G (p.Asn276Ser)	Likely pathogenic
3578693	NM_004970.3(IGFALS):c.334_346delinsCCTGCT (p.Ser112fs)	Likely pathogenic
4281634	NM_004970.3(IGFALS):c.1661_1662dup (p.Pro555fs)	Likely pathogenic
4281663	NM_004970.3(IGFALS):c.1700_1701del (p.Glu567fs)	Likely pathogenic
4281664	NM_004970.3(IGFALS):c.269_272dup (p.Ala92fs)	Likely pathogenic
4845784	NM_004970.3(IGFALS):c.869_872delinsACACGTTCTCC (p.Leu290fs)	Likely pathogenic
620476	NM_004970.3(IGFALS):c.1293G>A (p.Trp431Ter)	Likely pathogenic

SpliceAI

180 predictions. Top by Δscore:

Variant	Effect	Δscore
16:1793631:CCTCA:C	donor_loss	0.9900
16:1793632:CTCA:C	donor_loss	0.9900
16:1793633:TCA:T	donor_loss	0.9900
16:1793634:CAC:C	donor_loss	0.9900
16:1793635:A:AT	donor_loss	0.9900
16:1793636:C:T	donor_loss	0.9900
16:1793640:T:A	donor_gain	0.9900
16:1793635:A:AC	donor_gain	0.9600
16:1793636:C:CC	donor_gain	0.9600
16:1793652:T:TA	donor_gain	0.9500
16:1793636:CCTTT:C	donor_gain	0.9200
16:1793630:GCCTC:G	donor_loss	0.8500
16:1792758:C:CC	acceptor_gain	0.8100
16:1793336:T:TA	donor_gain	0.7900
16:1792754:TGGCC:T	acceptor_loss	0.7600
16:1792755:GGCC:G	acceptor_loss	0.7600
16:1792757:CCTAG:C	acceptor_loss	0.7600
16:1792758:C:CG	acceptor_loss	0.7600
16:1792759:T:C	acceptor_loss	0.7600
16:1792996:C:CT	acceptor_gain	0.7500
16:1793545:T:TA	donor_gain	0.7400
16:1792422:G:GT	acceptor_gain	0.6900
16:1793173:C:A	donor_gain	0.6800
16:1793337:C:A	donor_gain	0.6800
16:1792760:A:C	acceptor_loss	0.6700
16:1793594:TGGC:T	donor_gain	0.6600
16:1792514:C:T	acceptor_gain	0.6400
16:1793636:CCT:C	donor_gain	0.6200
16:1792754:TGGC:T	acceptor_gain	0.5900
16:1793039:A:AT	acceptor_gain	0.5800

AlphaMissense

3855 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:1791462:A:G	L319P	0.994
16:1791662:G:C	N252K	0.993
16:1791662:G:T	N252K	0.993
16:1791678:A:T	L247H	0.992
16:1791878:A:C	N180K	0.992
16:1791878:A:T	N180K	0.992
16:1790870:G:C	N516K	0.991
16:1790870:G:T	N516K	0.991
16:1791678:A:G	L247P	0.991
16:1791806:G:C	N204K	0.991
16:1791806:G:T	N204K	0.991
16:1791888:A:T	L177H	0.991
16:1791894:A:G	L175P	0.991
16:1792038:A:G	L127P	0.991
16:1792110:A:T	L103H	0.991
16:1792239:C:G	C60S	0.991
16:1792240:A:T	C60S	0.991
16:1791734:G:C	N228K	0.990
16:1791734:G:T	N228K	0.990
16:1791894:A:T	L175H	0.990
16:1791966:A:T	L151H	0.990
16:1792166:G:C	N84K	0.990
16:1792166:G:T	N84K	0.990
16:1790806:A:G	W538R	0.989
16:1790806:A:T	W538R	0.989
16:1791102:A:T	L439H	0.989
16:1791399:A:T	L340H	0.989
16:1791590:G:C	N276K	0.989
16:1791590:G:T	N276K	0.989
16:1791606:A:G	L271P	0.989

dbSNP variants (sampled 300 via entrez): RS1000012294 (16:1793190 G>T), RS1000147751 (16:1793073 G>A), RS1000343242 (16:1795616 C>A,G), RS1001137736 (16:1793361 G>A), RS1001171858 (16:1793488 C>G,T), RS1001397761 (16:1795118 C>G), RS1001617825 (16:1796503 A>G,T), RS1001767569 (16:1790501 A>G,T), RS1002007655 (16:1793103 GCCC>G,GCC,GCCCC), RS1002050387 (16:1796667 TTG>T), RS1002116068 (16:1796647 C>A), RS1002166142 (16:1794140 C>T), RS1002532166 (16:1791401 C>G), RS1002590326 (16:1793987 C>T), RS1002679760 (16:1794604 C>G,T)

Disease associations

OMIM: gene MIM:601489 | disease phenotypes: MIM:615961

GenCC curated gene-disease

Disease	Classification	Inheritance
short stature due to primary acid-labile subunit deficiency	Strong	Autosomal recessive

Mondo (1): short stature due to primary acid-labile subunit deficiency (MONDO:0014420)

Orphanet (1): Short stature due to primary acid-labile subunit deficiency (Orphanet:140941)

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPO	Term
HP:0000347	Micrognathia
HP:0000823	Delayed puberty
HP:0000855	Insulin resistance
HP:0001510	Growth delay
HP:0001530	Mild postnatal growth retardation
HP:0001956	Truncal obesity
HP:0002750	Delayed skeletal maturation
HP:0008189	Insulin insensitivity
HP:0030353	Decreased circulating serum insulin-like growth factor 1 concentration
HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000937_1	Insulin-like growth factors	1.000000e-11
GCST006585_657	Blood protein levels	4.000000e-06
GCST90002390_76	Mean corpuscular hemoglobin	1.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004626	IGFBP-3 measurement
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Aflatoxin B1	decreases expression, increases expression	3
Ethinyl Estradiol	decreases expression, increases expression	2
2,4,6-tribromophenol	increases expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	increases expression	1
obeticholic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Cadmium	affects binding	1
Copper	affects binding	1
Estradiol	decreases expression	1
Estrogens, Conjugated (USP)	decreases expression	1
Menthol	increases expression	1
Nickel	affects binding	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
Zinc	affects binding	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1
Coal Ash	decreases expression	1

Clinical trials (associated diseases)

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