SEC11C

Summary

SEC11C (SEC11 homolog C, signal peptidase complex subunit, HGNC:23400) is a protein-coding gene on chromosome 18q21.32, encoding Signal peptidase complex catalytic subunit SEC11C (Q9BY50). Catalytic component of the signal peptidase complex (SPC) which catalyzes the cleavage of N-terminal signal sequences from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.

Enables serine-type endopeptidase activity. Involved in signal peptide processing. Located in endoplasmic reticulum membrane. Part of signal peptidase complex.

Source: NCBI Gene 90701 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 14 total — 1 pathogenic
• MANE Select transcript: NM_033280

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23400
Approved symbol	SEC11C
Name	SEC11 homolog C, signal peptidase complex subunit
Location	18q21.32
Locus type	gene with protein product
Status	Approved
Aliases	SPC21, SPCS4C
Ensembl gene	ENSG00000166562
Ensembl biotype	protein_coding
Entrez	90701

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000299714, ENST00000509791, ENST00000585864, ENST00000587834, ENST00000588875, ENST00000591406, ENST00000592774, ENST00000593132, ENST00000715778, ENST00000900204, ENST00000900205, ENST00000900206, ENST00000900207, ENST00000900208

RefSeq mRNA: 2 — MANE Select: NM_033280 NM_001307941, NM_033280

CCDS: CCDS11970, CCDS77193

Canonical transcript exons

ENST00000587834 — 6 exons

Exon	Start	End
ENSE00001104229	59158632	59158832
ENSE00003483843	59155688	59155807
ENSE00003540555	59157608	59157665
ENSE00003621422	59149513	59149622
ENSE00003711946	59152536	59152685
ENSE00004027912	59139884	59140035

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.8000 / max 4565.2951, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170454	76.3458	1812
170452	3.0199	1373
170453	1.6923	1039
170451	0.7421	356

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	99.59	gold quality
body of pancreas	UBERON:0001150	99.22	gold quality
pituitary gland	UBERON:0000007	99.13	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.04	gold quality
adenohypophysis	UBERON:0002196	98.99	gold quality
spinal cord	UBERON:0002240	98.90	gold quality
pancreas	UBERON:0001264	98.85	gold quality
hypothalamus	UBERON:0001898	98.55	gold quality
parotid gland	UBERON:0001831	98.46	gold quality
nucleus accumbens	UBERON:0001882	98.23	gold quality
right lobe of liver	UBERON:0001114	98.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.14	gold quality
substantia nigra	UBERON:0002038	98.13	gold quality
putamen	UBERON:0001874	98.08	gold quality
amygdala	UBERON:0001876	98.06	gold quality
saliva-secreting gland	UBERON:0001044	98.03	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.97	gold quality
midbrain	UBERON:0001891	97.91	gold quality
medial globus pallidus	UBERON:0002477	97.84	gold quality
caudate nucleus	UBERON:0001873	97.82	gold quality
vermiform appendix	UBERON:0001154	97.80	gold quality
minor salivary gland	UBERON:0001830	97.78	gold quality
left lobe of thyroid gland	UBERON:0001120	97.75	gold quality
anterior cingulate cortex	UBERON:0009835	97.75	gold quality
right frontal lobe	UBERON:0002810	97.70	gold quality
right lobe of thyroid gland	UBERON:0001119	97.69	gold quality
cortical plate	UBERON:0005343	97.59	gold quality
globus pallidus	UBERON:0001875	97.53	gold quality
rectum	UBERON:0001052	97.48	gold quality
trachea	UBERON:0003126	97.44	gold quality

Single-cell (SCXA)

Detected in 33 experiment(s), a significant marker in 31.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	6750.75
E-HCAD-15	yes	5076.33
E-MTAB-8221	yes	4731.47
E-MTAB-9154	yes	2379.04
E-HCAD-31	yes	2178.05
E-HCAD-32	yes	1778.06
E-MTAB-9221	yes	1696.97
E-MTAB-9467	yes	1582.88
E-MTAB-5061	yes	1535.34
E-MTAB-10432	yes	1520.88
E-GEOD-83139	yes	1333.01
E-GEOD-81608	yes	1302.25
E-MTAB-8207	yes	1125.39
E-ENAD-27	yes	1112.63
E-HCAD-1	yes	1018.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting SEC11C, 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-1277-5P	100.00	73.95	5056
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-7152-3P	99.97	67.47	849
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-4299	98.28	66.96	850
HSA-MIR-7850-5P	98.12	67.28	1111
HSA-MIR-642B-5P	96.37	67.26	745

Literature-anchored findings (GeneRIF, showing 2)

• Structure of the human signal peptidase complex reveals the determinants for signal peptide cleavage. (PMID:34388369)
• Signal peptidase 21 suppresses cell proliferation, migration, and invasion via the PTEN-PI3K/Akt signaling pathway in lung adenocarcinoma. (PMID:36275477)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sec11c	ENSMUSG00000024516
rattus_norvegicus	Sec11c	ENSRNOG00000017036
drosophila_melanogaster	twr	FBGN0262801
caenorhabditis_elegans	sec-11	WBGENE00021844

Paralogs (1): SEC11A (ENSG00000140612)

Protein

Protein identifiers

Signal peptidase complex catalytic subunit SEC11C — Q9BY50 (reviewed: Q9BY50)

Alternative names: Microsomal signal peptidase 21 kDa subunit, SEC11 homolog C, SEC11-like protein 3, SPC21

All UniProt accessions (4): A0A0A0MR04, B4DI03, Q9BY50, K7EJQ7

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic component of the signal peptidase complex (SPC) which catalyzes the cleavage of N-terminal signal sequences from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. Specifically cleaves N-terminal signal peptides that contain a hydrophobic alpha-helix (h-region) shorter than 18-20 amino acids.

Subunit / interactions. Component of the signal peptidase complex paralog C (SPC-C) composed of a catalytic subunit SEC11C and three accessory subunits SPCS1, SPCS2 and SPCS3. Within the complex, interacts with SPCS2 and SPCS3. The complex induces a local thinning of the ER membrane which is used to measure the length of the signal peptide (SP) h-region of protein substrates. This ensures the selectivity of the complex towards h-regions shorter than 18-20 amino acids.

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. May undergo processing at the N-terminus.

Domain organisation. The C-terminal short (CTS) helix is essential for catalytic activity. It may be accommodated as a transmembrane helix in the thinned membrane environment of the complex, similarly to the signal peptide in the complex substrates.

Similarity. Belongs to the peptidase S26B family.

RefSeq proteins (2): NP_001294870, NP_150596* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001733	Peptidase_S26B	Family
IPR015927	Peptidase_S24_S26A/B/C	Domain
IPR019533	Peptidase_S26	Domain
IPR019756	Pept_S26A_signal_pept_1_Ser-AS	Active_site
IPR019758	Pept_S26A_signal_pept_1_CS	Conserved_site
IPR036286	LexA/Signal_pep-like_sf	Homologous_superfamily

Pfam: PF00717

UniProt features (14 total): mutagenesis site 6, active site 3, topological domain 2, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7P2Q	ELECTRON MICROSCOPY	4.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BY50-F1	88.38	0.73

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 (3): 68 (charge relay system); 108 (charge relay system); 134 (charge relay system)

Mutagenesis-validated functional residues (6):

Position	Phenotype
128	moderate reduction in catalytic activity. reduces protein stability.
128	slight reduction in catalytic activity; when associated with d-109.
133	no effect on catalytic activity or protein stability.
134	loss of catalytic activity. slight reduction in protein stability.
68	loss of catalytic activity.
109	slight reduction in catalytic activity; when associated with r-128.

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-381771	Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
R-HSA-400511	Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
R-HSA-422085	Synthesis, secretion, and deacylation of Ghrelin
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
R-HSA-9828806	Maturation of hRSV A proteins
R-HSA-9918432	Maturation of DENV proteins
R-HSA-1643685	Disease
R-HSA-2980736	Peptide hormone metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-400508	Incretin synthesis, secretion, and inactivation
R-HSA-5663205	Infectious disease
R-HSA-72766	Translation
R-HSA-9820952	Respiratory Syncytial Virus Infection Pathway
R-HSA-9820965	Respiratory syncytial virus (RSV) genome replication, transcription and translation
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 208 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_PROTEIN_MATURATION, MODULE_205, USF_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, TGGNNNNNNKCCAR_UNKNOWN, MORI_PLASMA_CELL_UP, USF_02, CUI_TCF21_TARGETS_2_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_SIGNAL_PEPTIDE_PROCESSING, ACTWSNACTNY_UNKNOWN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (2): obsolete signal peptide processing (GO:0006465), proteolysis (GO:0006508)

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), peptidase activity (GO:0008233), signal peptidase activity (GO:0009003), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (4): signal peptidase complex (GO:0005787), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Incretin synthesis, secretion, and inactivation	2
Peptide hormone metabolism	2
Metabolism of proteins	2
Translation	1
Regulation of CDH1 Expression and Function	1
Respiratory syncytial virus (RSV) genome replication, transcription and translation	1
Dengue Virus Genome Translation and Replication	1
Disease	1
Viral Infection Pathways	1
Respiratory Syncytial Virus Infection Pathway	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endopeptidase activity	2
protein metabolic process	1
serine-type peptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
serine-type endopeptidase complex	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEC11C	SPCS3	P12280	867
SEC11C	SPCS2	Q15005	830
SEC11C	SPCS1	Q9Y6A9	727
SEC11C	SEC61A1	P38378	569
SEC11C	RPL26	P61254	527
SEC11C	SEC61G	P38384	518
SEC11C	TMEM41A	Q96HV5	476
SEC11C	H0YNG3	H0YNG3	468
SEC11C	TMEM109	Q9BVC6	456
SEC11C	RPS25	P25111	451
SEC11C	GLRX5	Q86SX6	419
SEC11C	P0DN79	P0DN79	411
SEC11C	H7C2H4	H7C2H4	411
SEC11C	TMEM126A	Q9H061	407
SEC11C	STT3A	P46977	401

IntAct

122 interactions, top by confidence:

A	B	Type	Score
SEC11C	SPCS3	psi-mi:“MI:0914”(association)	0.820
SEC11C	SPCS3	psi-mi:“MI:0915”(physical association)	0.820
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TOMM22	XRCC3	psi-mi:“MI:0914”(association)	0.640
VAMP5	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
SEC11C	MFF	psi-mi:“MI:0915”(physical association)	0.560
C2	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
PRSS23	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
SELENOM	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
VAMP1	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
PLPP6	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
TMEM128	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
CADM3	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
SCD	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
STX12	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
TMEM42	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
RTP2	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
HMOX1	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
SEC11C	UBE2J1	psi-mi:“MI:0915”(physical association)	0.560
SEC11C	SERP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM254	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
SEC11C	VAPA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (92): SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Proximity Label-MS), SEC11C (PCA), SPCS2 (Affinity Capture-MS), FUNDC2 (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SEC11C (Affinity Capture-MS), APOM (Affinity Capture-MS), SPCS3 (Affinity Capture-MS)

ESM2 similar proteins: A1CL29, A1D6D8, A3LXS1, A4RGA1, A6QX24, A7E716, B0D4L0, B0XWT3, B2B3T2, B2WEL2, B6HC89, B6Q5G0, B8M5K5, C0NKT8, C0S3S0, C1FYD2, C4QXP7, C5G8L5, C5JJG5, C5M4J6, C6HB29, C7ZHK5, C9S8G0, D5GNC3, D8Q7Q5, E3QXY4, E3RR70, E5A8D2, E9E796, E9F8V9, F0UDD2, F0XJH4, P0C7V7, P13679, P42667, P67810, P67811, P67812, Q0CQC5, Q2H1P3

Diamond homologs: A1CL29, A1D6D8, A3LXS1, A4RGA1, A5DIZ8, A5DS09, A6QX24, A6ZVU2, A7E716, B0D4L0, B0XWT3, B2B3T2, B2WEL2, B3LTI7, B6HC89, B6Q5G0, B8M5K5, B9WKT4, C0NKT8, C0S3S0, C1FYD2, C1GU90, C4JYM4, C4QXP7, C4Y3D4, C4YNJ0, C5DDH1, C5E3W1, C5FQ45, C5G8L5, C5JJG5, C5M4J6, C5PA33, C6HB29, C7GLT4, C7ZHK5, C8ZAS4, C9S8G0, D4ALL0, D4D5I1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SEC11C	“form complex”	“Signal peptidase complex, SEC11C variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
monoatomic ion transmembrane transport	6	16.9×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	8
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
564567	GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	Pathogenic

SpliceAI

1271 predictions. Top by Δscore:

Variant	Effect	Δscore
18:59149508:TCCA:T	acceptor_loss	1.0000
18:59149509:CCA:C	acceptor_loss	1.0000
18:59149510:CAGCT:C	acceptor_loss	1.0000
18:59149511:A:AC	acceptor_loss	1.0000
18:59149512:GCTCT:G	acceptor_gain	1.0000
18:59149618:CTGAG:C	donor_loss	1.0000
18:59149619:TGAG:T	donor_loss	1.0000
18:59149622:GGTAG:G	donor_loss	1.0000
18:59149624:T:A	donor_loss	1.0000
18:59152640:G:GT	donor_gain	1.0000
18:59152664:GA:G	donor_gain	1.0000
18:59152666:G:GG	donor_gain	1.0000
18:59152686:G:GG	donor_gain	1.0000
18:59155686:A:AG	acceptor_gain	1.0000
18:59155687:G:GG	acceptor_gain	1.0000
18:59155687:GA:G	acceptor_gain	1.0000
18:59140047:GGGTG:G	donor_gain	0.9900
18:59140048:GGTGG:G	donor_gain	0.9900
18:59140089:G:GT	donor_gain	0.9900
18:59140089:G:T	donor_gain	0.9900
18:59149506:A:AG	acceptor_gain	0.9900
18:59149511:A:AG	acceptor_gain	0.9900
18:59149512:G:GG	acceptor_gain	0.9900
18:59149512:GCT:G	acceptor_gain	0.9900
18:59149512:GCTC:G	acceptor_gain	0.9900
18:59152594:G:GT	donor_gain	0.9900
18:59152594:G:T	donor_gain	0.9900
18:59152681:GAAAA:G	donor_gain	0.9900
18:59155687:GAGAT:G	acceptor_gain	0.9900
18:59155804:GAGG:G	donor_gain	0.9900

AlphaMissense

1267 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:59149556:C:A	A44E	1.000
18:59149562:T:A	M46K	1.000
18:59149562:T:G	M46R	1.000
18:59149567:T:A	W48R	1.000
18:59149567:T:C	W48R	1.000
18:59149573:G:C	G50R	1.000
18:59149604:C:A	P60H	1.000
18:59149604:C:G	P60R	1.000
18:59149607:T:A	I61N	1.000
18:59149612:G:C	V63L	1.000
18:59149612:G:T	V63L	1.000
18:59149613:T:A	V63E	1.000
18:59149615:G:A	V64M	1.000
18:59149616:T:A	V64E	1.000
18:59149619:T:C	L65P	1.000
18:59149622:G:T	S66I	1.000
18:59152540:A:C	S68R	1.000
18:59152542:T:A	S68R	1.000
18:59152542:T:G	S68R	1.000
18:59152544:T:C	M69T	1.000
18:59152545:G:A	M69I	1.000
18:59152545:G:C	M69I	1.000
18:59152545:G:T	M69I	1.000
18:59152549:C:T	P71S	1.000
18:59152550:C:A	P71Q	1.000
18:59152556:T:C	F73S	1.000
18:59152564:G:A	G76R	1.000
18:59152564:G:C	G76R	1.000
18:59152565:G:A	G76E	1.000
18:59152565:G:T	G76V	1.000

dbSNP variants (sampled 300 via entrez): RS1000206906 (18:59144801 A>G,T), RS1000297906 (18:59150744 T>C), RS1000393005 (18:59150474 C>G), RS1000429786 (18:59158944 A>G), RS1000459211 (18:59157841 A>T), RS1000495686 (18:59145025 G>C), RS1000518565 (18:59145541 T>C), RS1000537519 (18:59151780 G>A), RS1000872894 (18:59140344 G>C), RS1001026410 (18:59140089 G>T), RS1001398301 (18:59157776 G>GC), RS1001674380 (18:59138522 C>A,G,T), RS1001766501 (18:59143694 T>C), RS1001972146 (18:59149456 A>G), RS1002038317 (18:59156189 T>G)

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

4 associations (top):

Study	Trait	p-value
GCST001280_11	Alzheimer’s disease (age of onset)	8.000000e-06
GCST006310_8	Post bronchodilator FEV1/FVC ratio in smoking	1.000000e-06
GCST007565_160	Morning person	2.000000e-37
GCST007576_15	Chronotype	2.000000e-37

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0004713	FEV/FVC ratio
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
sodium arsenite	affects expression, decreases expression, increases expression	4
Cyclosporine	increases expression	4
Tetrachlorodibenzodioxin	affects expression, affects cotreatment, decreases expression	3
Tunicamycin	increases expression	2
Cadmium Chloride	increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression, affects cotreatment	1
dicrotophos	decreases expression	1
zinc chromate	increases abundance, increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
NSC 689534	affects binding, increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	affects binding, increases expression	1
Cycloheximide	affects cotreatment, affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diuron	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Hydrogen Peroxide	increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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