SEC11A

Summary

SEC11A (SEC11 homolog A, signal peptidase complex subunit, HGNC:17718) is a protein-coding gene on chromosome 15q25.2, encoding Signal peptidase complex catalytic subunit SEC11A (P67812). 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.

This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8.

Source: NCBI Gene 23478 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 26 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_014300

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17718
Approved symbol	SEC11A
Name	SEC11 homolog A, signal peptidase complex subunit
Location	15q25.2
Locus type	gene with protein product
Status	Approved
Aliases	SPC18, sid2895, SPCS4A
Ensembl gene	ENSG00000140612
Ensembl biotype	protein_coding
OMIM	618258
Entrez	23478

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000268220, ENST00000455959, ENST00000558134, ENST00000558196, ENST00000558217, ENST00000558924, ENST00000559376, ENST00000559729, ENST00000560266, ENST00000560409, ENST00000924496, ENST00000924497, ENST00000924498, ENST00000924499, ENST00000967089

RefSeq mRNA: 6 — MANE Select: NM_014300 NM_001271918, NM_001271919, NM_001271920, NM_001271921, NM_001271922, NM_014300

CCDS: CCDS45340, CCDS61742, CCDS61743, CCDS61744, CCDS73776

Canonical transcript exons

ENST00000268220 — 6 exons

Exon	Start	End
ENSE00000944164	84687625	84687774
ENSE00001105888	84680713	84680832
ENSE00001533471	84716025	84716139
ENSE00003490986	84691535	84691644
ENSE00003536219	84669544	84670069
ENSE00003567045	84670725	84670782

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 147.5993 / max 2944.1846, expressed in 1826 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151337	75.6922	1818
151338	39.9436	1815
151339	14.3872	1796
151340	12.9838	1794
151336	4.5924	1518

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	99.68	gold quality
parietal pleura	UBERON:0002400	99.66	gold quality
visceral pleura	UBERON:0002401	99.62	gold quality
pleura	UBERON:0000977	99.61	gold quality
tibia	UBERON:0000979	99.61	gold quality
tendon of biceps brachii	UBERON:0008188	99.54	gold quality
cartilage tissue	UBERON:0002418	99.42	gold quality
corpus epididymis	UBERON:0004359	99.39	gold quality
epithelial cell of pancreas	CL:0000083	99.27	gold quality
caput epididymis	UBERON:0004358	99.26	gold quality
tendon	UBERON:0000043	99.23	gold quality
amniotic fluid	UBERON:0000173	99.22	gold quality
sperm	CL:0000019	99.18	gold quality
nephron tubule	UBERON:0001231	99.18	gold quality
calcaneal tendon	UBERON:0003701	99.17	gold quality
renal glomerulus	UBERON:0000074	99.09	gold quality
esophagus squamous epithelium	UBERON:0006920	99.07	gold quality
male germ cell	CL:0000015	99.05	gold quality
palpebral conjunctiva	UBERON:0001812	99.03	gold quality
metanephric glomerulus	UBERON:0004736	99.02	gold quality
monocyte	CL:0000576	99.01	gold quality
eye	UBERON:0000970	99.00	gold quality
endometrium	UBERON:0001295	99.00	gold quality
choroid plexus epithelium	UBERON:0003911	99.00	gold quality
mononuclear cell	CL:0000842	98.98	gold quality
cervix squamous epithelium	UBERON:0006922	98.96	gold quality
cauda epididymis	UBERON:0004360	98.95	gold quality
squamous epithelium	UBERON:0006914	98.95	gold quality
leukocyte	CL:0000738	98.94	gold quality
kidney epithelium	UBERON:0004819	98.93	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	20.91
E-CURD-46	yes	19.27
E-HCAD-6	yes	17.94
E-CURD-122	yes	11.00
E-MTAB-10042	yes	9.20
E-CURD-112	yes	5.72
E-MTAB-6379	no	1789.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TCF3

miRNA regulators (miRDB)

37 targeting SEC11A, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-4504	99.10	69.14	1328
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-653-3P	98.31	67.71	1542

Literature-anchored findings (GeneRIF, showing 7)

• SPC18 contributes to malignant progression through promotion of TGF-alpha secretion in gastric cancer. (PMID:23995782)
• results suggest that SPC18 is involved in tumor progression, and is an independent prognostic classifier in patients with colorectal cancer (PMID:27859949)
• These results indicate that SPC18 plays an important role in the progression of bladder cancer. (PMID:31163419)
• SPC18 Expression Is an Independent Prognostic Indicator of Patients with Esophageal Squamous Cell Carcinoma. (PMID:32564026)
• MiR-873-5p modulates progression of tongue squamous cell carcinoma via targeting SEC11A. (PMID:33675129)
• Structure of the human signal peptidase complex reveals the determinants for signal peptide cleavage. (PMID:34388369)
• Clinical Significance of SEC11A Expression in Patients With Locally Advanced Gastric Cancer. (PMID:36456166)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sec11a	ENSDARG00000008936
mus_musculus	Sec11a	ENSMUSG00000025724
rattus_norvegicus	Sec11a	ENSRNOG00000011029
drosophila_melanogaster	twr	FBGN0262801
caenorhabditis_elegans	sec-11	WBGENE00021844

Paralogs (1): SEC11C (ENSG00000166562)

Protein

Protein identifiers

Signal peptidase complex catalytic subunit SEC11A — P67812 (reviewed: P67812)

Alternative names: Endopeptidase SP18, Microsomal signal peptidase 18 kDa subunit, SEC11 homolog A, SEC11-like protein 1, SPC18

All UniProt accessions (5): P67812, H0YKT4, H0YNA5, H0YNG3, H0YNX5

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 A (SPC-A) composed of a catalytic subunit SEC11A 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.

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.

Isoforms (4)

UniProt ID	Names	Canonical?
P67812-1	1	yes
P67812-2	2
P67812-3	3
P67812-4	4

RefSeq proteins (6): NP_001258847, NP_001258848, NP_001258849, NP_001258850, NP_001258851, NP_055115* (*=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 (21 total): mutagenesis site 6, splice variant 4, sequence conflict 3, 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)
7P2P	ELECTRON MICROSCOPY	4.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P67812-F1	90.54	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): 56 (charge relay system); 96 (charge relay system); 122 (charge relay system)

Mutagenesis-validated functional residues (6):

Position	Phenotype
56	loss of catalytic activity.
97	slight reduction in catalytic activity; when associated with r-116.
116	moderate reduction in catalytic activity. reduces protein stability.
116	slight reduction in catalytic activity; when associated with d-97.
121	no effect on catalytic activity or protein stability.
122	loss of catalytic activity. slight reduction in protein stability.

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: 239 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, MODULE_52, GNF2_BNIP2, MODULE_151, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, MODULE_149, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, MODULE_118, AGTCTTA_MIR499, GOBP_PROTEIN_MATURATION, GGAANCGGAANY_UNKNOWN, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_PPP6C, SCHLOSSER_SERUM_RESPONSE_DN

GO Biological Process (3): obsolete signal peptide processing (GO:0006465), response to virus (GO:0009615), 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
response to other organism	1
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

0 interactions, top by confidence (×1000):

IntAct

116 interactions, top by confidence:

A	B	Type	Score
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
SEC11A	SPCS3	psi-mi:“MI:0914”(association)	0.770
SEC11A	SPCS3	psi-mi:“MI:0915”(physical association)	0.770
GPC1	HADHB	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
BCHE	SEC11A	psi-mi:“MI:0915”(physical association)	0.560
ADAM33	SEC11A	psi-mi:“MI:0915”(physical association)	0.560
SEC11A	ADAM33	psi-mi:“MI:0915”(physical association)	0.560
PLAUR	PLAU	psi-mi:“MI:0914”(association)	0.560
SPCS3	ENTPD6	psi-mi:“MI:0914”(association)	0.530
SSMEM1	ENDOD1	psi-mi:“MI:0914”(association)	0.530
FBXL14	SEC11A	psi-mi:“MI:0914”(association)	0.530
GPC1	SEC11A	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
PRTN3	FBXO21	psi-mi:“MI:0914”(association)	0.530
SEC11A	NPC1	psi-mi:“MI:0914”(association)	0.530
SEC11A	H3-4	psi-mi:“MI:0915”(physical association)	0.400
NUPR1	SEC11A	psi-mi:“MI:0915”(physical association)	0.370
CSNK2B	SEC11A	psi-mi:“MI:0915”(physical association)	0.370
		psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (131): SEC11A (Two-hybrid), SEC11A (Affinity Capture-MS), SEC11A (Affinity Capture-MS), SEC11A (Proximity Label-MS), SEC11A (Proximity Label-MS), SEC11A (Proximity Label-MS), SEC11A (Proximity Label-MS), SEC11A (Proximity Label-MS), SEC11A (Proximity Label-MS), SEC11A (Proximity Label-MS), SEC11A (Affinity Capture-MS), SEC11A (Affinity Capture-MS), SEC11A (Affinity Capture-MS), SEC11A (Affinity Capture-MS), SEC11A (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
SEC11A	“form complex”	“Signal peptidase complex, SEC11A variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neutrophil degranulation	17	4.0×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1345 predictions. Top by Δscore:

Variant	Effect	Δscore
15:84670719:TCTTA:T	donor_loss	1.0000
15:84670720:CTTA:C	donor_loss	1.0000
15:84670721:TTA:T	donor_loss	1.0000
15:84670722:TACCT:T	donor_loss	1.0000
15:84670723:ACCT:A	donor_loss	1.0000
15:84670778:CAAAT:C	acceptor_gain	1.0000
15:84670783:C:CC	acceptor_gain	1.0000
15:84680711:AC:A	donor_gain	1.0000
15:84680711:ACC:A	donor_gain	1.0000
15:84680711:ACCC:A	donor_gain	1.0000
15:84680712:CC:C	donor_gain	1.0000
15:84680712:CCC:C	donor_gain	1.0000
15:84680712:CCCC:C	donor_gain	1.0000
15:84680834:T:C	acceptor_gain	1.0000
15:84687612:A:AC	donor_gain	1.0000
15:84687613:C:CC	donor_gain	1.0000
15:84687615:TTGC:T	donor_gain	1.0000
15:84687621:ATACT:A	donor_loss	1.0000
15:84687622:TACTT:T	donor_loss	1.0000
15:84687623:A:AC	donor_gain	1.0000
15:84687623:ACTTT:A	donor_loss	1.0000
15:84687624:C:CG	donor_gain	1.0000
15:84687624:CT:C	donor_gain	1.0000
15:84687624:CTT:C	donor_gain	1.0000
15:84687624:CTTT:C	donor_gain	1.0000
15:84687624:CTTTT:C	donor_gain	1.0000
15:84687669:T:TA	donor_gain	1.0000
15:84687770:TGCCA:T	acceptor_gain	1.0000
15:84687772:CCA:C	acceptor_gain	1.0000
15:84687773:CA:C	acceptor_gain	1.0000

AlphaMissense

1170 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:84670765:C:A	G150V	1.000
15:84670765:C:T	G150E	1.000
15:84670766:C:G	G150R	1.000
15:84670766:C:T	G150R	1.000
15:84680725:C:T	G140E	1.000
15:84680726:C:A	G140W	1.000
15:84680726:C:G	G140R	1.000
15:84680726:C:T	G140R	1.000
15:84680779:T:A	D122V	1.000
15:84680780:C:G	D122H	1.000
15:84680790:A:C	N118K	1.000
15:84680790:A:T	N118K	1.000
15:84680797:T:A	D116V	1.000
15:84680797:T:G	D116A	1.000
15:84680798:C:G	D116H	1.000
15:84680800:C:A	G115V	1.000
15:84680800:C:T	G115E	1.000
15:84680801:C:G	G115R	1.000
15:84680801:C:T	G115R	1.000
15:84680802:T:A	K114N	1.000
15:84680802:T:G	K114N	1.000
15:84687646:C:G	R97P	1.000
15:84687647:G:C	R97G	1.000
15:84687650:G:C	H96D	1.000
15:84687652:A:T	V95D	1.000
15:84687655:A:T	I94K	1.000
15:84687681:A:C	F85L	1.000
15:84687681:A:T	F85L	1.000
15:84687683:A:G	F85L	1.000
15:84687745:C:A	G64V	1.000

dbSNP variants (sampled 300 via entrez): RS1000009632 (15:84704720 C>T), RS1000082773 (15:84697235 A>C), RS1000111383 (15:84677824 A>C,G), RS1000135227 (15:84690205 T>C), RS1000215557 (15:84686920 T>C), RS1000249095 (15:84678017 G>A), RS1000267489 (15:84670849 A>C,G,T), RS1000368849 (15:84690546 G>A,C), RS1000561670 (15:84701959 T>A,C,G), RS1000676981 (15:84707246 C>T), RS1000722860 (15:84707645 G>A), RS1000780649 (15:84701784 T>G), RS1000837324 (15:84709518 C>T), RS1000936135 (15:84703137 G>A), RS1000970743 (15:84689210 C>T)

Disease associations

OMIM: gene MIM:618258 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004521_253	Autism spectrum disorder or schizophrenia	6.000000e-11
GCST006803_69	Schizophrenia	9.000000e-10
GCST007316_1	Response to ketamine in bipolar disorder or major depression (antidepressant effects)	6.000000e-07
GCST008103_25	Bipolar disorder	3.000000e-08
GCST012227_255	Hip circumference adjusted for BMI	4.000000e-08
GCST012227_256	Hip circumference adjusted for BMI	4.000000e-08
GCST90020028_1364	Hip circumference adjusted for BMI	5.000000e-15
GCST90020028_1441	Hip circumference adjusted for BMI	2.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007006	depressive symptom measurement
EFO:0009748	response to ketamine
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725033 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

3 potent at pChembl≥5 of 4 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.17	Kd	6739	nM	CHEMBL5653589
5.17	ED50	6739	nM	CHEMBL5653589
5.00	IC50	1e+04	nM	MOLIBRESIB

PubChem BioAssay actives

2 with measured affinity, of 10 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149359: Binding affinity to human SEC11A incubated for 45 mins by Kinobead based pull down assay	kd	6.7387	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178835: Inhibition of SEC11A (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	10.0000	uM

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenate	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
azoxystrobin	increases expression	1
chloropicrin	increases expression	1
pyrimidifen	increases expression	1
picoxystrobin	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Ivermectin	decreases expression	1
Paraquat	decreases expression	1
Rotenone	increases expression	1
Testosterone	decreases expression	1
Sodium Selenite	increases expression	1
Particulate Matter	increases abundance, decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652401	Binding	Binding affinity to human SEC11A incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3GM	Abcam HEK293T SEC11A KO	Transformed cell line	Female

Clinical trials (associated diseases)

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