SPCS3
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Also known as FLJ22649SPC22/23SPC3YLR066WPRO3567
Summary
SPCS3 (signal peptidase complex subunit 3, HGNC:26212) is a protein-coding gene on chromosome 4q34.2, encoding Signal peptidase complex subunit 3 (P61009). Essential 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. It is a common-essential gene (DepMap: required in 95.1% of cancer cell lines).
Involved in signal peptide processing and viral protein processing. Located in endoplasmic reticulum membrane. Part of signal peptidase complex.
Source: NCBI Gene 60559 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 29 total — 2 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 95.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_021928
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26212 |
| Approved symbol | SPCS3 |
| Name | signal peptidase complex subunit 3 |
| Location | 4q34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567 |
| Ensembl gene | ENSG00000129128 |
| Ensembl biotype | protein_coding |
| OMIM | 618854 |
| Entrez | 60559 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 retained_intron, 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000503362, ENST00000507001, ENST00000507678, ENST00000513139
RefSeq mRNA: 1 — MANE Select: NM_021928
NM_021928
CCDS: CCDS54823
Canonical transcript exons
ENST00000503362 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000886396 | 176328198 | 176332245 |
| ENSE00002065140 | 176319966 | 176320219 |
| ENSE00003524373 | 176327162 | 176327277 |
| ENSE00003530109 | 176322170 | 176322243 |
| ENSE00003600295 | 176324181 | 176324257 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.8625 / max 367.3419, expressed in 1823 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 50700 | 65.3812 | 1823 |
| 50701 | 0.4813 | 215 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 97.62 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.61 | gold quality |
| pylorus | UBERON:0001166 | 97.55 | gold quality |
| bone marrow cell | CL:0002092 | 97.50 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.48 | gold quality |
| decidua | UBERON:0002450 | 97.40 | gold quality |
| body of pancreas | UBERON:0001150 | 97.37 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.15 | gold quality |
| gingiva | UBERON:0001828 | 97.11 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.10 | gold quality |
| monocyte | CL:0000576 | 96.95 | gold quality |
| mononuclear cell | CL:0000842 | 96.95 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 96.94 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.87 | gold quality |
| squamous epithelium | UBERON:0006914 | 96.83 | gold quality |
| leukocyte | CL:0000738 | 96.81 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.72 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.69 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.61 | gold quality |
| bone marrow | UBERON:0002371 | 96.61 | gold quality |
| endometrium | UBERON:0001295 | 96.60 | gold quality |
| parotid gland | UBERON:0001831 | 96.50 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.49 | gold quality |
| caput epididymis | UBERON:0004358 | 96.48 | gold quality |
| upper leg skin | UBERON:0004262 | 96.46 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 96.40 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.37 | gold quality |
| trachea | UBERON:0003126 | 96.33 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.29 | gold quality |
| tonsil | UBERON:0002372 | 96.26 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 105.24 |
| E-MTAB-9467 | yes | 67.08 |
| E-HCAD-1 | yes | 63.15 |
| E-HCAD-4 | yes | 60.60 |
| E-CURD-46 | yes | 54.14 |
| E-CURD-122 | yes | 49.79 |
| E-MTAB-8410 | yes | 39.63 |
| E-HCAD-11 | yes | 23.09 |
| E-HCAD-9 | yes | 19.59 |
| E-MTAB-10553 | yes | 10.70 |
| E-HCAD-13 | yes | 7.01 |
| E-CURD-112 | no | 3.03 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
199 targeting SPCS3, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 95.1% of screened cell lines, common-essential.
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spcs3 | ENSDARG00000089976 |
| mus_musculus | Arxes2 | ENSMUSG00000048040 |
| mus_musculus | Arxes1 | ENSMUSG00000048355 |
| mus_musculus | Spcs3 | ENSMUSG00000054408 |
| rattus_norvegicus | Spcs3 | ENSRNOG00000038933 |
| rattus_norvegicus | ENSRNOG00000078288 | |
| drosophila_melanogaster | Spase22-23 | FBGN0039172 |
| caenorhabditis_elegans | WBGENE00019679 |
Protein
Protein identifiers
Signal peptidase complex subunit 3 — P61009 (reviewed: P61009)
Alternative names: Microsomal signal peptidase 22/23 kDa subunit
All UniProt accessions (1): P61009
UniProt curated annotations — full annotation on UniProt →
Function. Essential 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. Essential for the SPC catalytic activity, possibly by stabilizing and positioning the active center of the complex close to the lumenal surface. (Microbial infection) Plays an important role in virion production of flaviviruses such as West Nile virus, Japanese enchephalitis virus, Dengue virus type 2 and Yellow Fever virus.
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 SEC11A or SEC11C and SPCS1. 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.
Similarity. Belongs to the SPCS3 family.
RefSeq proteins (1): NP_068747* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007653 | SPC3 | Family |
Pfam: PF04573
UniProt features (6 total): topological domain 2, chain 1, transmembrane region 1, glycosylation site 1, sequence conflict 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-P61009-F1 | 91.72 | 0.83 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 141
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: 184 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_PROTEIN_TARGETING, chr4q34, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_PROTEIN_MATURATION, MORI_PLASMA_CELL_UP, WANG_RESPONSE_TO_FORSKOLIN_UP, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, WANG_RESPONSE_TO_ANDROGEN_UP, WANG_PROSTATE_CANCER_ANDROGEN_INDEPENDENT, GOBP_SIGNAL_PEPTIDE_PROCESSING
GO Biological Process (4): obsolete signal peptide processing (GO:0006465), proteolysis (GO:0006508), viral protein processing (GO:0019082), protein targeting to ER (GO:0045047)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): endoplasmic reticulum (GO:0005783), signal peptidase complex (GO:0005787), endoplasmic reticulum membrane (GO:0005789), 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 |
|---|---|
| protein metabolic process | 1 |
| viral process | 1 |
| viral gene expression | 1 |
| protein targeting | 1 |
| establishment of protein localization to endoplasmic reticulum | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 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 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
84 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 |
| RAB6B | GDI1 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ATXN1 | SPCS3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| HTT | SPCS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC11C | APOM | psi-mi:“MI:0914”(association) | 0.530 |
| SPCS3 | ENTPD6 | psi-mi:“MI:0914”(association) | 0.530 |
| SEC11A | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| env | PGRMC1 | psi-mi:“MI:0914”(association) | 0.460 |
BioGRID (166): SPCS3 (Proximity Label-MS), SPCS3 (Proximity Label-MS), SPCS3 (Proximity Label-MS), SPCS3 (Proximity Label-MS), SPCS3 (Proximity Label-MS), SPCS3 (Proximity Label-MS), SPCS3 (Proximity Label-MS), SPCS3 (Affinity Capture-MS), SPCS3 (Affinity Capture-MS), SPCS3 (Affinity Capture-MS), SPCS3 (Affinity Capture-MS), SPCS3 (Affinity Capture-RNA), SPCS3 (Affinity Capture-MS), SPCS3 (Affinity Capture-MS), SPCS3 (Affinity Capture-MS)
ESM2 similar proteins: A8WG88, C0HK79, C0HK80, E2RQ08, F1NNL1, F1PCT7, F1QR43, F4HTM3, F7B645, O18823, O96005, P04843, P04844, P07153, P0C152, P25235, P28687, P34525, P61008, P61009, P97259, Q08834, Q09328, Q3SZI6, Q3SZU5, Q4R4T0, Q4WGM4, Q53YF3, Q568Z4, Q5AYC8, Q5R9S8, Q5RBM1, Q5RFB6, Q5XIP9, Q60MW2, Q62186, Q6ZWQ7, Q8BR76, Q8BXQ2, Q8R4G6
Diamond homologs: B0G180, C0HK79, C0HK80, P28687, P34525, P61008, P61009, Q12133, Q3SZU5, Q53YF3, Q568Z4, Q60MW2, Q6BPD6, Q6C4R5, Q6ZWQ7, Q9LGB4, Q9MA96, Q9VCA9, Q10259, Q6CRY8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SPCS3 | “form complex” | “Signal peptidase complex, SEC11C variant” | binding |
| SPCS3 | “form complex” | “Signal peptidase complex, SEC11A variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 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 |
|---|---|---|---|
| Regulation of CDH1 posttranslational processing and trafficking to plasma membrane | 5 | 26.7× | 3e-04 |
| Maturation of DENV proteins | 5 | 16.8× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cilium assembly | 7 | 7.2× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3062803 | GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 | Pathogenic |
| 983279 | GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 | Pathogenic |
SpliceAI
682 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:176320182:A:T | donor_gain | 1.0000 |
| 4:176320217:GCT:G | donor_gain | 1.0000 |
| 4:176320220:G:GG | donor_gain | 1.0000 |
| 4:176327232:A:G | donor_gain | 1.0000 |
| 4:176327272:TCTC:T | donor_gain | 1.0000 |
| 4:176327277:AGT:A | donor_loss | 1.0000 |
| 4:176327278:G:GC | donor_loss | 1.0000 |
| 4:176327278:G:GG | donor_gain | 1.0000 |
| 4:176327279:T:G | donor_loss | 1.0000 |
| 4:176328302:A:G | donor_gain | 1.0000 |
| 4:176328324:T:G | donor_gain | 1.0000 |
| 4:176320216:TGCT:T | donor_gain | 0.9900 |
| 4:176320217:GCTG:G | donor_gain | 0.9900 |
| 4:176320218:CT:C | donor_gain | 0.9900 |
| 4:176320220:GT:G | donor_loss | 0.9900 |
| 4:176320223:A:AC | donor_loss | 0.9900 |
| 4:176320224:G:GG | donor_gain | 0.9900 |
| 4:176325840:TTC:T | donor_gain | 0.9900 |
| 4:176327157:TATA:T | acceptor_loss | 0.9900 |
| 4:176327158:ATAGG:A | acceptor_loss | 0.9900 |
| 4:176327159:TA:T | acceptor_loss | 0.9900 |
| 4:176327160:A:AG | acceptor_gain | 0.9900 |
| 4:176327160:AG:A | acceptor_gain | 0.9900 |
| 4:176327160:AGGC:A | acceptor_loss | 0.9900 |
| 4:176327161:G:GG | acceptor_gain | 0.9900 |
| 4:176327161:G:GT | acceptor_loss | 0.9900 |
| 4:176327161:GG:G | acceptor_gain | 0.9900 |
| 4:176327161:GGCT:G | acceptor_gain | 0.9900 |
| 4:176327273:CTCA:C | donor_gain | 0.9900 |
| 4:176327280:GAG:G | donor_loss | 0.9900 |
AlphaMissense
1171 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:176320125:A:C | S17R | 0.999 |
| 4:176320127:C:A | S17R | 0.999 |
| 4:176320127:C:G | S17R | 0.999 |
| 4:176324219:T:C | F86L | 0.999 |
| 4:176324221:T:A | F86L | 0.999 |
| 4:176324221:T:G | F86L | 0.999 |
| 4:176324201:T:A | W80R | 0.998 |
| 4:176324201:T:C | W80R | 0.998 |
| 4:176324206:T:A | N81K | 0.998 |
| 4:176324206:T:G | N81K | 0.998 |
| 4:176327183:T:A | W106R | 0.998 |
| 4:176327183:T:C | W106R | 0.998 |
| 4:176327187:A:C | D107A | 0.998 |
| 4:176327187:A:T | D107V | 0.998 |
| 4:176328229:T:A | W148R | 0.998 |
| 4:176328229:T:C | W148R | 0.998 |
| 4:176328251:G:A | G155E | 0.998 |
| 4:176320114:C:A | A13D | 0.997 |
| 4:176320134:G:C | A20P | 0.997 |
| 4:176320141:T:C | L22P | 0.997 |
| 4:176322216:G:A | G64R | 0.997 |
| 4:176322216:G:C | G64R | 0.997 |
| 4:176322217:G:A | G64E | 0.997 |
| 4:176324234:G:C | A91P | 0.997 |
| 4:176327178:T:A | V104D | 0.997 |
| 4:176327186:G:C | D107H | 0.997 |
| 4:176327246:T:C | Y127H | 0.997 |
| 4:176327274:T:A | L136H | 0.997 |
| 4:176327274:T:C | L136P | 0.997 |
| 4:176328248:C:A | A154D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000057830 (4:176331920 G>C), RS1000109788 (4:176331742 C>T), RS1000471587 (4:176319879 G>A,C,T), RS1000677858 (4:176318448 G>A), RS1000953710 (4:176324748 G>A), RS1001037646 (4:176330594 G>A), RS1001063750 (4:176330583 G>T), RS1001073879 (4:176330340 T>A,C), RS10013572 (4:176332270 A>C), RS1001386305 (4:176324461 GTTTGTTCTA>G), RS1001612335 (4:176331688 A>C,G), RS1001668696 (4:176319177 T>G), RS1001835496 (4:176318030 T>C), RS1001960493 (4:176325019 T>G), RS1002112796 (4:176325106 C>G,T)
Disease associations
OMIM: gene MIM:618854 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003989_18 | Chin dimples | 3.000000e-15 |
| GCST004659_1 | Left ventricular mass | 1.000000e-07 |
| GCST005988_4 | Serum albumin levels | 6.000000e-09 |
| GCST005989_11 | Serum total protein levels | 4.000000e-09 |
| GCST007354_1 | Intracranial aneurysm | 6.000000e-13 |
| GCST010796_2093 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-09 |
| GCST010796_2094 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2095 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_2096 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008205 | left ventricular structural measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066491 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| Valproic Acid | affects expression, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Colforsin | increases expression | 1 |
| Furaldehyde | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652513 | Binding | Binding affinity to human SPCS3 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 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2H5 | Abcam HeLa SPCS3 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm