SPCS1

Summary

SPCS1 (signal peptidase complex subunit 1, HGNC:23401) is a protein-coding gene on chromosome 3p21.1, encoding Signal peptidase complex subunit 1 (Q9Y6A9). 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.

Predicted to enable ribosome binding activity. Involved in signal peptide processing; viral protein processing; and virion assembly. Located in endoplasmic reticulum membrane. Part of signal peptidase complex.

Source: NCBI Gene 28972 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_014041

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23401
Approved symbol	SPCS1
Name	signal peptidase complex subunit 1
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Aliases	SPC12, HSPC033, YJR010C-A, SPC1
Ensembl gene	ENSG00000114902
Ensembl biotype	protein_coding
OMIM	610358
Entrez	28972

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 retained_intron

ENST00000233025, ENST00000423431, ENST00000448693, ENST00000474945, ENST00000619898, ENST00000858694, ENST00000918254

RefSeq mRNA: 1 — MANE Select: NM_014041 NM_014041

CCDS: CCDS33769

Canonical transcript exons

ENST00000619898 — 4 exons

Exon	Start	End
ENSE00003340594	52706106	52706282
ENSE00003463864	52706793	52706879
ENSE00003498706	52706644	52706703
ENSE00003718485	52707687	52711148

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 189.7995 / max 1450.0248, expressed in 1826 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36892	188.8109	1826
36891	0.9886	561

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.62	gold quality
male germ cell	CL:0000015	99.40	gold quality
parotid gland	UBERON:0001831	99.32	gold quality
tibia	UBERON:0000979	99.24	gold quality
adult organism	UBERON:0007023	99.21	gold quality
jejunal mucosa	UBERON:0000399	99.02	gold quality
palpebral conjunctiva	UBERON:0001812	98.98	gold quality
seminal vesicle	UBERON:0000998	98.97	gold quality
esophagus squamous epithelium	UBERON:0006920	98.97	gold quality
eye	UBERON:0000970	98.90	gold quality
bronchial epithelial cell	CL:0002328	98.81	gold quality
type B pancreatic cell	CL:0000169	98.75	gold quality
epithelium of esophagus	UBERON:0001976	98.75	gold quality
pigmented layer of retina	UBERON:0001782	98.74	gold quality
retina	UBERON:0000966	98.71	gold quality
body of pancreas	UBERON:0001150	98.63	gold quality
corpus epididymis	UBERON:0004359	98.63	gold quality
secondary oocyte	CL:0000655	98.56	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.49	gold quality
oral cavity	UBERON:0000167	98.48	gold quality
right testis	UBERON:0004534	98.44	gold quality
left testis	UBERON:0004533	98.40	gold quality
oocyte	CL:0000023	98.39	gold quality
epithelium of bronchus	UBERON:0002031	98.34	gold quality
bronchus	UBERON:0002185	98.31	gold quality
colonic mucosa	UBERON:0000317	98.25	gold quality
nephron tubule	UBERON:0001231	98.24	gold quality
trabecular bone tissue	UBERON:0002483	98.21	gold quality
nasal cavity mucosa	UBERON:0001826	98.20	gold quality
pancreas	UBERON:0001264	98.16	gold quality

Single-cell (SCXA)

Detected in 21 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	78.32
E-HCAD-4	yes	67.01
E-CURD-46	yes	44.87
E-HCAD-1	yes	42.53
E-MTAB-8410	yes	40.18
E-MTAB-7316	yes	40.04
E-CURD-122	yes	36.93
E-HCAD-11	yes	19.92
E-MTAB-6701	yes	17.48
E-MTAB-8142	yes	16.23
E-CURD-112	yes	15.32
E-MTAB-9467	yes	14.89
E-MTAB-10042	yes	13.63
E-MTAB-8498	yes	13.45
E-GEOD-137537	yes	13.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting SPCS1, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-606	98.72	67.34	960
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-1-5P	98.70	68.66	1017
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-1285-5P	98.01	68.71	779
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-3622A-3P	97.06	66.43	1000
HSA-MIR-3622B-3P	96.82	66.36	988

Literature-anchored findings (GeneRIF, showing 4)

• SPCS1 plays a key role in the formation of the membrane-associated NS2-E2 complex via its interaction with NS2 and E2, which leads to a coordinating interaction between the structural and non-structural proteins (PMID:24009510)
• cis-acting regulatory polymorphisms acting on GNL3 and SPCS1 contribute to the OA association signal at chromosome 3p21, and these genes therefore merit further investigation. (PMID:24886551)
• the results demonstrate that SPCS1 affects viral replication by interacting with NS2B, thereby influencing the posttranslational processing of Japanese Encephalitis Virus proteins and the assembly of virions. (PMID:29593046)
• SPCS1-Dependent E2-p7 processing determines HCV Assembly efficiency. (PMID:35130329)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	spcs1	ENSDARG00000059298
mus_musculus	Spcs1	ENSMUSG00000021917
rattus_norvegicus	Spcs1	ENSRNOG00000018075
drosophila_melanogaster	Spase12	FBGN0040623
caenorhabditis_elegans	spcs-1	WBGENE00016395

Protein

Protein identifiers

Signal peptidase complex subunit 1 — Q9Y6A9 (reviewed: Q9Y6A9)

Alternative names: Microsomal signal peptidase 12 kDa subunit

All UniProt accessions (3): Q9Y6A9, A0A5F9YFS9, C9JBL1

UniProt curated annotations — full annotation on UniProt →

Function. 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. Dispensable for SPC enzymatic activity. (Microbial infection) Required for the post-translational processing of proteins involved in virion assembly and secretion from flaviviruses such as West Nile virus (WNV), Japanese encephalitis virus (JEV), Dengue virus type 2 (DENV-2), Yellow Fever virus (YFV), Zika virus (ZIKV) and hepatitis C virus (HCV). Plays a key role in the post-translational processing of flaviviral structural proteins prM, E, and NS1. In HCV, it is involved in virion assembly where it promotes the interaction between HCV virus proteins NS2 and E2.

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. 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. (Microbial infection) Interacts with hepatitis C virus (HCV) proteins NS2 and E2. Interacts with NS2B from Japanese encephalitis virus (JEV), West Nile virus (WNV), and Zika virus (ZIKV).

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. May be phosphorylated.

Similarity. Belongs to the SPCS1 family.

RefSeq proteins (1): NP_054760* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009542	Spc1/SPCS1	Family

Pfam: PF06645

UniProt features (12 total): topological domain 3, sequence conflict 3, region of interest 3, transmembrane region 2, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7P2P	ELECTRON MICROSCOPY	4.9
7P2Q	ELECTRON MICROSCOPY	4.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6A9-F1	64.40	0.19

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: 148 (showing top): GCANCTGNY_MYOD_Q6, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, CAGCTG_AP4_Q5, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_PROTEIN_MATURATION, GOBP_VIRAL_LIFE_CYCLE, GOBP_VIRION_ASSEMBLY, MORI_PLASMA_CELL_UP, E12_Q6, ACEVEDO_LIVER_CANCER_UP, GOBP_SIGNAL_PEPTIDE_PROCESSING, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (5): obsolete signal peptide processing (GO:0006465), proteolysis (GO:0006508), virion assembly (GO:0019068), viral protein processing (GO:0019082), protein targeting to ER (GO:0045047)

GO Molecular Function (1): protein binding (GO:0005515)

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
viral process	2
protein metabolic process	1
viral life cycle	1
viral gene expression	1
protein targeting	1
establishment of protein localization to endoplasmic reticulum	1
binding	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

1376 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPCS1	SPCS2	Q15005	993
SPCS1	SPCS3	P12280	876
SPCS1	H0YNG3	H0YNG3	840
SPCS1	SEC11C	Q9BY50	727
SPCS1	SRP19	P09132	573
SPCS1	SRP9	P49458	570
SPCS1	GLT8D1	Q68CQ7	548
SPCS1	SEC63	Q9UGP8	530
SPCS1	PCSK2	P16519	507
SPCS1	SRP68	Q9UHB9	491
SPCS1	SRPRB	Q9Y5M8	486
SPCS1	SEC61G	P38384	483
SPCS1	SRP54	P13624	473
SPCS1	SRP72	O76094	472
SPCS1	SEC61B	P38390	462

IntAct

110 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
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
EMC4	EMC8	psi-mi:“MI:0914”(association)	0.640
TOMM22	XRCC3	psi-mi:“MI:0914”(association)	0.640
SPCS1		psi-mi:“MI:0915”(physical association)	0.630
	SPCS1	psi-mi:“MI:0915”(physical association)	0.630
	SPCS1	psi-mi:“MI:2364”(proximity)	0.630
MOXD1	GPAA1	psi-mi:“MI:0914”(association)	0.620
	SPCS1	psi-mi:“MI:2364”(proximity)	0.600
SPCS1		psi-mi:“MI:0915”(physical association)	0.600
SPCS1		psi-mi:“MI:0914”(association)	0.600
HYAL4	GAPDHS	psi-mi:“MI:0914”(association)	0.560
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
SSMEM1	NDUFA7	psi-mi:“MI:0914”(association)	0.530
SEC11C	APOM	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530

BioGRID (175): SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-RNA), SPCS1 (Proximity Label-MS), SPCS1 (Proximity Label-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS)

ESM2 similar proteins: B6H6F3, B8NLZ3, C8VDQ4, E5DG73, G4NEB8, O14448, O42794, O54992, O59922, O95259, P0CW19, P0CW20, P25908, P28348, P32023, P52959, P86244, P93025, Q01386, Q03043, Q0U822, Q14123, Q2QYY8, Q2RBR1, Q2UPB6, Q4IJ84, Q4WCV3, Q4WPU8, Q4WQL0, Q4X1A8, Q5RF96, Q5ZKK1, Q60603, Q63421, Q64338, Q6DC61, Q7S1P9, Q7TX80, Q86ZN7, Q8INB9

Diamond homologs: B0FWK4, O44953, P83362, Q3T134, Q54Y83, Q5RF96, Q61CQ8, Q944J0, Q9D958, Q9VAL0, Q9Y6A9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SPCS1	“form complex”	“Signal peptidase complex, SEC11C variant”	binding
SPCS1	“form complex”	“Signal peptidase complex, SEC11A variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 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
Synthesis, secretion, and deacylation of Ghrelin	5	32.3×	6e-05
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	5	18.1×	3e-04
Maturation of DENV proteins	6	13.6×	2e-04
Post-translational modification: synthesis of GPI-anchored proteins	5	9.0×	3e-03
Asparagine N-linked glycosylation	7	4.5×	7e-03
Viral Infection Pathways	10	3.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

581 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52706684:G:T	donor_gain	1.0000
3:52706699:CTGCA:C	donor_gain	1.0000
3:52706700:TGCA:T	donor_gain	1.0000
3:52706700:TGCAG:T	donor_loss	1.0000
3:52706701:GCA:G	donor_gain	1.0000
3:52706701:GCAG:G	donor_gain	1.0000
3:52706702:CA:C	donor_gain	1.0000
3:52706703:AGT:A	donor_loss	1.0000
3:52706704:G:GG	donor_gain	1.0000
3:52706704:GTA:G	donor_loss	1.0000
3:52706792:GATA:G	acceptor_gain	1.0000
3:52707679:T:TA	acceptor_gain	1.0000
3:52705881:A:AC	donor_gain	0.9900
3:52705882:C:CC	donor_gain	0.9900
3:52705950:T:TA	donor_gain	0.9900
3:52705950:TC:T	donor_gain	0.9900
3:52706175:GTCCT:G	donor_gain	0.9900
3:52706176:TCCTT:T	donor_gain	0.9900
3:52706493:G:GT	donor_gain	0.9900
3:52706493:G:T	donor_gain	0.9900
3:52706521:GCCCT:G	donor_gain	0.9900
3:52706705:TAA:T	donor_loss	0.9900
3:52706706:AAG:A	donor_loss	0.9900
3:52706791:A:AG	acceptor_gain	0.9900
3:52706792:G:GG	acceptor_gain	0.9900
3:52706875:GTTTG:G	donor_gain	0.9900
3:52707680:G:A	acceptor_gain	0.9900
3:52707686:GCT:G	acceptor_gain	0.9900
3:52705446:CA:C	donor_gain	0.9800
3:52705929:A:C	donor_gain	0.9800

AlphaMissense

663 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52706658:G:C	Q84H	0.999
3:52706658:G:T	Q84H	0.999
3:52706799:G:A	G102R	0.999
3:52706799:G:C	G102R	0.999
3:52706800:G:A	G102E	0.999
3:52706811:G:T	G106W	0.999
3:52706812:G:A	G106E	0.999
3:52706874:T:C	C127R	0.999
3:52707702:T:A	W134R	0.999
3:52707702:T:C	W134R	0.999
3:52707732:T:A	W144R	0.999
3:52707732:T:C	W144R	0.999
3:52707734:G:C	W144C	0.999
3:52707734:G:T	W144C	0.999
3:52706653:G:C	G83R	0.998
3:52706811:G:A	G106R	0.998
3:52706811:G:C	G106R	0.998
3:52706842:T:A	V116D	0.998
3:52706860:G:A	G122E	0.998
3:52706653:G:T	G83C	0.997
3:52706654:G:T	G83V	0.997
3:52706702:C:A	A99E	0.997
3:52706812:G:T	G106V	0.997
3:52706830:T:G	F112C	0.997
3:52706848:T:A	I118K	0.997
3:52706859:G:A	G122R	0.997
3:52706859:G:C	G122R	0.997
3:52707711:T:G	Y137D	0.997
3:52707733:G:C	W144S	0.997
3:52706644:G:C	D80H	0.996

dbSNP variants (sampled 300 via entrez): RS1000296187 (3:52710439 C>CAAAG), RS1000579401 (3:52705405 G>A), RS1000688759 (3:52704190 G>A), RS1000786301 (3:52710618 C>T), RS1000880404 (3:52704294 A>C), RS1000922142 (3:52711024 G>A), RS1001421654 (3:52710899 T>C), RS1001990771 (3:52706064 AC>A), RS1002005160 (3:52710257 C>A,G,T), RS1002048634 (3:52705059 G>C), RS1002078693 (3:52710047 A>G), RS1002695285 (3:52706940 G>C,T), RS1002810248 (3:52707283 C>A,T), RS1003655158 (3:52707192 G>A,C), RS1003702405 (3:52708715 A>C)

Disease associations

OMIM: gene MIM:610358 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST002149_14	Schizophrenia	1.000000e-08
GCST002539_48	Schizophrenia	4.000000e-11
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_201	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST004521_259	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST004946_141	Schizophrenia	5.000000e-13
GCST006803_55	Schizophrenia	1.000000e-11
GCST006950_53	Feeling worry	4.000000e-11
GCST008103_3	Bipolar disorder	7.000000e-11
GCST010698_14	Subcortical volume (min-P)	8.000000e-09
GCST010699_73	Brain morphology (min-P)	1.000000e-18
GCST010701_137	Cortical surface area (MOSTest)	8.000000e-10
GCST010702_70	Subcortical volume (MOSTest)	2.000000e-11
GCST010703_327	Brain morphology (MOSTest)	1.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009589	worry measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment	2
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
chloropicrin	decreases expression	1
K 7174	decreases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Smoke	decreases expression	1
Thiram	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3I1	Abcam HEK293T SPCS1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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