GSDMA

Summary

GSDMA (gasdermin A, HGNC:13311) is a protein-coding gene on chromosome 17q21.1, encoding Gasdermin-A (Q96QA5). This form constitutes the precursor of the pore-forming protein and acts as a sensor of infection: upon infection by S.pyogenes, specifically cleaved by S.pyogenes effector protein SpeB in epithelial cells, releasing the N-terminal moiety (Gasdermin-A, N-terminal) that binds to…. It is a selective cancer dependency (DepMap: 16.6% of cell lines).

Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in perinuclear region of cytoplasm. Is active in membrane.

Source: NCBI Gene 284110 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 66 total
• Cancer dependency (DepMap): dependent in 16.6% of screened cell lines
• MANE Select transcript: NM_178171

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13311
Approved symbol	GSDMA
Name	gasdermin A
Location	17q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39120
Ensembl gene	ENSG00000167914
Ensembl biotype	protein_coding
OMIM	611218
Entrez	284110

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000301659, ENST00000577447, ENST00000635792

RefSeq mRNA: 1 — MANE Select: NM_178171 NM_178171

CCDS: CCDS45669

Canonical transcript exons

ENST00000301659 — 12 exons

Exon	Start	End
ENSE00001118345	39972129	39972176
ENSE00001159351	39975924	39975997
ENSE00001159355	39974900	39975014
ENSE00001159360	39974273	39974427
ENSE00001159370	39971524	39971620
ENSE00001159373	39970482	39970647
ENSE00001182680	39966260	39966437
ENSE00001282687	39976816	39977768
ENSE00001282695	39965683	39965901
ENSE00001383206	39963004	39963085
ENSE00001424336	39972587	39972613
ENSE00001747090	39973810	39973830

Expression profiles

Bgee: expression breadth ubiquitous, 108 present calls, max score 91.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4711 / max 62.5739, expressed in 122 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160646	0.2347	57
160648	0.1284	50
160645	0.1080	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	91.76	gold quality
zone of skin	UBERON:0000014	91.03	gold quality
skin of abdomen	UBERON:0001416	89.99	gold quality
granulocyte	CL:0000094	73.42	gold quality
lower esophagus mucosa	UBERON:0035834	66.82	gold quality
placenta	UBERON:0001987	62.61	gold quality
mucosa of stomach	UBERON:0001199	62.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	60.42	silver quality
smooth muscle tissue	UBERON:0001135	59.35	gold quality
esophagus mucosa	UBERON:0002469	59.20	gold quality
vermiform appendix	UBERON:0001154	59.12	gold quality
gall bladder	UBERON:0002110	58.01	gold quality
duodenum	UBERON:0002114	57.04	gold quality
lymph node	UBERON:0000029	56.55	gold quality
apex of heart	UBERON:0002098	56.54	gold quality
rectum	UBERON:0001052	56.21	gold quality
urinary bladder	UBERON:0001255	53.50	gold quality
subcutaneous adipose tissue	UBERON:0002190	53.31	gold quality
esophagus	UBERON:0001043	53.18	gold quality
adipose tissue	UBERON:0001013	52.97	gold quality
omental fat pad	UBERON:0010414	52.76	gold quality
blood	UBERON:0000178	52.05	gold quality
mucosa of transverse colon	UBERON:0004991	51.63	gold quality
right adrenal gland cortex	UBERON:0035827	51.42	gold quality
tonsil	UBERON:0002372	51.36	gold quality
muscle tissue	UBERON:0002385	50.18	gold quality
leukocyte	CL:0000738	49.31	gold quality
calcaneal tendon	UBERON:0003701	48.70	gold quality
left adrenal gland	UBERON:0001234	48.66	gold quality
thoracic aorta	UBERON:0001515	48.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting GSDMA, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-487A-5P	98.85	69.37	993
HSA-MIR-487B-5P	98.85	69.48	987

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 19)

• Evolutionary recombination hotspot around the GSDML-GSDM locus is closely linked to oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12. (PMID:15010812)
• The present data suggest that TGF-beta, LMO1, possibly RUNX3, and GSDM form a regulatory pathway for directing the pit cells to apoptosis. (PMID:17471240)
• Study investigated the expression pattern of the GSDM family genes in the upper gastrointestinal epithelium and cancers. (PMID:19051310)
• The GSDMA (rs7212938) and GSDMB (rs7216389) polymorphisms are associated with asthma susceptibility and intermediate asthma phenotypes. (PMID:21337730)
• Results suggest an association of 17q21 polymorphisms with ORMDL3, GSDMA expression, and IL-17 secretion early in life. These observations may imply a functional role of the 17q21 locus affecting T-cell development during immune maturation. (PMID:21546069)
• Study identified significantly white blood cell count (WBC) level associated SNPs of three separate genes GSDMA, MED24, and PSMD3 in European continent (EA) subjects. (PMID:22037903)
• Based on our results and published findings on GSDMA, GSDMB, LRRC3C, and related proteins, we propose that this locus in part affects IBD susceptibility via effects on apoptosis and cell proliferation (PMID:26484354)
• The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males separately. (PMID:26671913)
• we investigated the association between GSDMA and GSDMB variants and the incidence of adult and childhood asthma among Jordanians.An association between the GSDMB T/C single nucleotide polymorphism (SNP) genotype and the incidence of childhood asthma was found (PMID:26886240)
• modest changes (8-13%) in promoter methylation levels of ZPBP2 and GSDMA may cause substantial changes in RNA levels and allelic expression of ZPBP2 and ORMDL3 is mediated by DNA methylation (PMID:28241063)
• GSDMA was identified as a susceptibility gene for systemic sclerosis. (PMID:28314753)
• GSDMA is upregulated in systemic sclerosis monocyte-derived macrophages but not in the skin; and is an expression quantitative trait locus in systemic sclerosis macrophages and lipopolysaccharide/interferon gamma (IFNgamma)-stimulated monocytes. A systemic sclerosis macrophage transcriptome signature is characterized by upregulation of glycolysis, hypoxia and mTOR signaling and a downregulation of IFNgamma response pat… (PMID:29348297)
• Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naive CD4(+) T cells. (PMID:32312674)
• Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians. (PMID:32496997)
• Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma. (PMID:34731088)
• Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model. (PMID:36965577)
• Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis. (PMID:37462807)
• Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance. (PMID:37672204)
• Starvation-induced phosphorylation activates gasdermin A to initiate pyroptosis. (PMID:39264808)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pjvk	ENSDARG00000079945
mus_musculus	Gsdma	ENSMUSG00000017204
mus_musculus	Gsdma2	ENSMUSG00000017211
mus_musculus	Gsdma3	ENSMUSG00000064224
rattus_norvegicus	Gsdma	ENSRNOG00000007943

Paralogs (4): GSDMB (ENSG00000073605), GSDMD (ENSG00000104518), GSDMC (ENSG00000147697), PJVK (ENSG00000204311)

Protein

Protein identifiers

Gasdermin-A — Q96QA5 (reviewed: Q96QA5)

Alternative names: Gasdermin-1

All UniProt accessions (2): Q96QA5, J3KRG2

UniProt curated annotations — full annotation on UniProt →

Function. This form constitutes the precursor of the pore-forming protein and acts as a sensor of infection: upon infection by S.pyogenes, specifically cleaved by S.pyogenes effector protein SpeB in epithelial cells, releasing the N-terminal moiety (Gasdermin-A, N-terminal) that binds to membranes and forms pores, triggering pyroptosis. Pore-forming protein that causes membrane permeabilization and pyroptosis. Released upon cleavage by S.pyogenes effector protein SpeB, and binds to membrane inner leaflet lipids. Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis. Pyroptosis triggers the elimination of the infected skin cell, depriving the pathogen of its protective niche, while inducing an inflammatory response. This ultimately prevents bacterial penetration of the epithelial barrier and a subsequent systemic dissemination of the pathogen. Binds to cardiolipin and other acidic phospholipids, such as phosphatidylserine, which mediate its targeting to the inner leaflet membrane.

Subunit / interactions. Homooligomer; homooligomeric ring-shaped pore complex containing 18-36 subunits when inserted in the membrane.

Subcellular location. Cytoplasm. Perinuclear region. Cytosol Cell membrane.

Tissue specificity. Expressed predominantly in the gastrointestinal tract and, at a lower level, in the skin. Also detected in mammary gland. In the gastrointestinal tract, mainly expressed in differentiated cells, including the differentiated cell layer of esophagus and mucus-secreting pit cells of the gastric epithelium. Down-regulated in gastric cancer cells.

Post-translational modifications. Cleavage by S.pyogenes SpeB relieves autoinhibition by releasing the N-terminal moiety (Gasdermin-A, N-terminal) that initiates pyroptosis. Palmitoylated.

Activity regulation. The full-length protein before cleavage is inactive: intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the released N-terminal moiety (Gasdermin-A, N-terminal) following cleavage by S.pyogenes effector protein SpeB.

Domain organisation. Intramolecular interactions between N- and C-terminal domains are important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain.

Similarity. Belongs to the gasdermin family.

RefSeq proteins (1): NP_835465* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007677	Gasdermin	Family
IPR040460	Gasdermin_pore	Domain
IPR041263	Gasdermin_PUB	Domain

Pfam: PF04598, PF17708

UniProt features (26 total): sequence conflict 6, mutagenesis site 5, sequence variant 4, transmembrane region 4, chain 3, site 2, region of interest 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96QA5-F1	80.60	0.35

Functional residue map

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

Catalytic / active sites (2): 245–246 ((microbial infection) cleavage; by s.pyogenes speb); 244–245 ((microbial infection) cleavage; by s.pyogenes speb)

Ligand- & substrate-binding residues (1): 9–13

Mutagenesis-validated functional residues (5):

Position	Phenotype
245	abolished cleavage by s.pyogenes effector protein speb, preventing pyroptosis.
246	abolished cleavage by s.pyogenes effector protein speb, preventing pyroptosis.
260	spontaneous pyroptosis-inducing activity.
334	spontaneous pyroptosis-inducing activity.
338	spontaneous pyroptosis-inducing activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 88 (showing top): GOBP_INFLAMMATORY_RESPONSE, AREB6_01, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, MARTINEZ_RB1_TARGETS_DN, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, NERF_Q2, GOBP_TRANSMEMBRANE_TRANSPORT, AR_Q2, GOCC_NUCLEAR_BODY, SANSOM_APC_TARGETS, GOMF_PHOSPHATIDYLINOSITOL_4_5_BISPHOSPHATE_BINDING, GOMF_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_PHOSPHATIDYLINOSITOL_BINDING

GO Biological Process (4): programmed cell death (GO:0012501), defense response to bacterium (GO:0042742), pyroptotic inflammatory response (GO:0070269), transmembrane transport (GO:0055085)

GO Molecular Function (5): phosphatidylserine binding (GO:0001786), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), wide pore channel activity (GO:0022829), phosphatidylinositol-4-phosphate binding (GO:0070273), protein binding (GO:0005515)

GO Cellular Component (6): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), endomembrane system (GO:0012505)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
anion binding	2
phosphatidylinositol phosphate binding	2
cytoplasm	2
signal transduction	1
cell death	1
defense response	1
response to bacterium	1
inflammatory response	1
transport	1
cellular process	1
phospholipid binding	1
modified amino acid binding	1
phosphatidylinositol bisphosphate binding	1
channel activity	1
binding	1
membrane	1
cell periphery	1
intracellular anatomical structure	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

736 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GSDMA	GSDME	O60443	979
GSDMA	ORMDL3	Q8N138	792
GSDMA	CASP1	P29466	773
GSDMA	LMO1	P25800	696
GSDMA	IL18	Q14116	691
GSDMA	ZPBP2	Q6X784	650
GSDMA	NLRP3	Q96P20	650
GSDMA	AIM2	O14862	647
GSDMA	NLRC4	Q9NPP4	641
GSDMA	CASP5	P51878	624
GSDMA	PJVK	Q0ZLH3	621
GSDMA	NLRP1	Q9C000	621
GSDMA	RUNX3	Q13761	604
GSDMA	MLKL	Q8NB16	603
GSDMA	IL1B	P01584	602

IntAct

92 interactions, top by confidence:

A	B	Type	Score
FANCG	FANCA	psi-mi:“MI:0914”(association)	0.960
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
GSDMA	APOC1	psi-mi:“MI:0915”(physical association)	0.560
GSDMA	APOC4	psi-mi:“MI:0915”(physical association)	0.560
APOC4	GSDMA	psi-mi:“MI:0915”(physical association)	0.560
APOC1	GSDMA	psi-mi:“MI:0915”(physical association)	0.560
ZSCAN12	A2ML1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
NDUFS5	NDUFS4	psi-mi:“MI:0914”(association)	0.530
ZIC1	CTSV	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
FOXH1	A2ML1	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
DDX19B	IGLL5	psi-mi:“MI:0914”(association)	0.350
ZIC1	IMPA2	psi-mi:“MI:0914”(association)	0.350
WRAP73	GGCT	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
DYRK3	EIF3F	psi-mi:“MI:0914”(association)	0.350
FASTK	TGM1	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
KLHL11	PIPSL	psi-mi:“MI:0914”(association)	0.350
GSKIP	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (117): GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Proximity Label-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS), GSDMA (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, A2CJ06, C9JE40, O15287, O15482, P33076, P57764, P70434, P79621, P85967, Q00978, Q14653, Q15572, Q2KHK6, Q32M21, Q3TR54, Q3UPH7, Q499Z3, Q4JF28, Q4R3B7, Q571B6, Q5JYT7, Q5PNP6, Q5XIS1, Q5Y4Y6, Q6AXX1, Q6P773, Q6PDZ2, Q7TSI1, Q80VA5, Q8BHW9, Q8BMG1, Q8BTN6, Q8CB12, Q8CE13, Q8CFK6, Q8CIE4, Q8K330, Q8TAX9, Q8TE77

Diamond homologs: P57764, Q32M21, Q5Y4Y6, Q96QA5, Q9BYG8, Q9D8T2, Q9EST1, P85967, Q2KHK6, Q3TR54, Q8CB12, Q99NB5, Q8TAX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1404 predictions. Top by Δscore:

Variant	Effect	Δscore
17:39965673:A:AG	acceptor_gain	1.0000
17:39965680:CAG:C	acceptor_gain	1.0000
17:39965681:A:AG	acceptor_gain	1.0000
17:39965681:AGA:A	acceptor_gain	1.0000
17:39965682:G:C	acceptor_gain	1.0000
17:39965682:G:GG	acceptor_gain	1.0000
17:39965682:GA:G	acceptor_gain	1.0000
17:39965682:GAGA:G	acceptor_gain	1.0000
17:39965682:GAGAC:G	acceptor_gain	1.0000
17:39965897:TTCAG:T	donor_loss	1.0000
17:39965898:TCAG:T	donor_loss	1.0000
17:39965899:CAG:C	donor_loss	1.0000
17:39965900:AGGT:A	donor_loss	1.0000
17:39965901:GG:G	donor_loss	1.0000
17:39965902:G:C	donor_loss	1.0000
17:39965903:T:G	donor_loss	1.0000
17:39966256:GCA:G	acceptor_loss	1.0000
17:39966258:A:AG	acceptor_gain	1.0000
17:39966259:G:GC	acceptor_gain	1.0000
17:39966259:GA:G	acceptor_gain	1.0000
17:39966259:GAC:G	acceptor_gain	1.0000
17:39966259:GACC:G	acceptor_gain	1.0000
17:39966259:GACCC:G	acceptor_gain	1.0000
17:39966434:AGAGG:A	donor_loss	1.0000
17:39966435:GAG:G	donor_gain	1.0000
17:39966435:GAGGT:G	donor_loss	1.0000
17:39966436:AGGT:A	donor_loss	1.0000
17:39966437:GGTGA:G	donor_loss	1.0000
17:39966438:GTGAG:G	donor_loss	1.0000
17:39966439:T:A	donor_loss	1.0000

AlphaMissense

2878 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:39971578:T:C	F205L	0.978
17:39971580:T:A	F205L	0.978
17:39971580:T:G	F205L	0.978
17:39971617:T:A	W218R	0.976
17:39971617:T:C	W218R	0.976
17:39965784:T:C	F33L	0.965
17:39965786:C:A	F33L	0.965
17:39965786:C:G	F33L	0.965
17:39971582:G:C	R206P	0.959
17:39965697:T:C	F4L	0.957
17:39965699:T:A	F4L	0.957
17:39965699:T:G	F4L	0.957
17:39970547:T:A	V153E	0.956
17:39972164:T:C	F231L	0.950
17:39972166:C:A	F231L	0.950
17:39972166:C:G	F231L	0.950
17:39976928:T:C	L403P	0.948
17:39971594:T:C	L210P	0.947
17:39977024:T:C	L435P	0.947
17:39965803:T:A	V39E	0.943
17:39976978:T:A	W420R	0.942
17:39976978:T:C	W420R	0.942
17:39970544:T:A	V152E	0.941
17:39976939:A:C	S407R	0.939
17:39976941:T:A	S407R	0.939
17:39976941:T:G	S407R	0.939
17:39975959:T:C	S353P	0.938
17:39965866:T:A	L60Q	0.934
17:39965878:T:A	L64H	0.934
17:39975009:T:C	L339P	0.933

dbSNP variants (sampled 300 via entrez): RS1000054248 (17:39962005 A>G), RS1000210167 (17:39976947 G>A), RS1000323408 (17:39970201 G>A,C), RS1000426677 (17:39962301 G>A), RS1000900488 (17:39967372 T>C), RS1001280326 (17:39975392 T>C), RS1001702843 (17:39963726 C>A,T), RS1001752664 (17:39975207 G>A,T), RS1002071057 (17:39964713 T>G), RS1002132266 (17:39963409 C>A,T), RS1002324513 (17:39973065 C>G,T), RS1002602781 (17:39974583 C>T), RS1002678806 (17:39973348 C>T), RS1003022543 (17:39976624 T>A), RS1003181901 (17:39971487 G>A)

Disease associations

OMIM: gene MIM:611218 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST000498_10	Hematological parameters	9.000000e-09
GCST000589_4	White blood cell count	3.000000e-14
GCST000804_4	Asthma	5.000000e-09
GCST001137_10	White blood cell count	9.000000e-35
GCST001137_8	White blood cell count	2.000000e-31
GCST001302_2	White blood cell count	2.000000e-12
GCST001302_4	White blood cell count	1.000000e-12
GCST001725_54	Inflammatory bowel disease	4.000000e-38
GCST002275_5	Asthma (childhood onset)	3.000000e-21
GCST002322_5	Asthma and hay fever	4.000000e-10
GCST003589_1	Bronchial hyperresponsiveness in asthma	3.000000e-20
GCST004131_33	Inflammatory bowel disease	2.000000e-26
GCST004132_116	Crohn’s disease	1.000000e-16
GCST004133_16	Ulcerative colitis	2.000000e-16
GCST004202_2	Systemic sclerosis	1.000000e-10
GCST005533_4	Limited cutaneous systemic scleroderma	2.000000e-06
GCST005534_10	Systemic sclerosis	2.000000e-06
GCST007562_5	Asthma	7.000000e-18
GCST007564_21	Asthma or allergic disease (pleiotropy)	4.000000e-17
GCST008103_61	Bipolar disorder	6.000000e-07
GCST008838_10	Asthma (time to onset)	2.000000e-13
GCST008916_21	Asthma	2.000000e-62
GCST008916_36	Asthma	6.000000e-13
GCST008916_85	Asthma	2.000000e-12
GCST009798_11	Asthma	1.000000e-65
GCST010002_123	Refractive error	1.000000e-24
GCST90002389_227	Lymphocyte percentage of white cells	6.000000e-09
GCST90013406_22	Liver enzyme levels (alkaline phosphatase)	9.000000e-20

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count
EFO:1001017	limited scleroderma
EFO:0004847	age at onset
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
sodium arsenate	decreases expression, increases abundance	1
kojic acid	decreases expression	1
benzo(e)pyrene	increases methylation	1
NSC668394	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Arbutin	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Estradiol	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Nicotine	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Triclosan	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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