SPCS2
gene geneOn this page
Also known as KIAA0102
Summary
SPCS2 (signal peptidase complex subunit 2, HGNC:28962) is a protein-coding gene on chromosome 11q13.4, encoding Signal peptidase complex subunit 2 (Q15005). 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 93.1% of cancer cell lines).
Predicted to enable peptidase activity. Involved in signal peptide processing. Located in endoplasmic reticulum membrane. Part of signal peptidase complex.
Source: NCBI Gene 9789 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 21 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 93.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014752
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28962 |
| Approved symbol | SPCS2 |
| Name | signal peptidase complex subunit 2 |
| Location | 11q13.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0102 |
| Ensembl gene | ENSG00000118363 |
| Ensembl biotype | protein_coding |
| OMIM | 619411 |
| Entrez | 9789 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000263672, ENST00000526361, ENST00000526883, ENST00000527225, ENST00000527290, ENST00000528265, ENST00000530257, ENST00000532972, ENST00000931771, ENST00000931772, ENST00000931773, ENST00000931774, ENST00000931775, ENST00000931776
RefSeq mRNA: 1 — MANE Select: NM_014752
NM_014752
CCDS: CCDS44681
Canonical transcript exons
ENST00000263672 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000797566 | 74965763 | 74965923 |
| ENSE00000797570 | 74969565 | 74969699 |
| ENSE00003582689 | 74965034 | 74965117 |
| ENSE00003846827 | 74949266 | 74949399 |
| ENSE00003847578 | 74976857 | 74979033 |
Expression profiles
Bgee: expression breadth ubiquitous, 205 present calls, max score 99.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8380 / max 221.5980, expressed in 1805 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115859 | 14.8380 | 1805 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.08 | gold quality |
| body of pancreas | UBERON:0001150 | 99.03 | gold quality |
| bone marrow cell | CL:0002092 | 98.94 | gold quality |
| embryo | UBERON:0000922 | 98.94 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.94 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.88 | gold quality |
| cortical plate | UBERON:0005343 | 98.69 | gold quality |
| endocervix | UBERON:0000458 | 98.57 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.57 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.57 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.52 | gold quality |
| rectum | UBERON:0001052 | 98.51 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.47 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.44 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.40 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.38 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.37 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 98.35 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.32 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.30 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.20 | gold quality |
| body of uterus | UBERON:0009853 | 98.18 | gold quality |
| left uterine tube | UBERON:0001303 | 98.15 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.15 | gold quality |
| ectocervix | UBERON:0012249 | 98.13 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.12 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.07 | gold quality |
| body of stomach | UBERON:0001161 | 98.04 | gold quality |
| left coronary artery | UBERON:0001626 | 98.01 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.99 | gold quality |
Single-cell (SCXA)
Detected in 14 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 1594.74 |
| E-CURD-88 | yes | 113.14 |
| E-HCAD-4 | yes | 64.89 |
| E-MTAB-9467 | yes | 64.37 |
| E-CURD-46 | yes | 62.90 |
| E-HCAD-1 | yes | 61.57 |
| E-MTAB-8410 | yes | 52.83 |
| E-CURD-122 | yes | 47.64 |
| E-HCAD-9 | yes | 24.27 |
| E-HCAD-11 | yes | 21.29 |
| E-MTAB-8142 | yes | 14.02 |
| E-MTAB-10553 | yes | 11.67 |
| E-GEOD-81383 | no | 1135.47 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting SPCS2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 93.1% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spcs2 | ENSDARG00000042823 |
| mus_musculus | Spcs2 | ENSMUSG00000035227 |
| rattus_norvegicus | Spcs2 | ENSRNOG00000018164 |
| drosophila_melanogaster | Spase25 | FBGN0030306 |
| caenorhabditis_elegans | WBGENE00012550 |
Protein
Protein identifiers
Signal peptidase complex subunit 2 — Q15005 (reviewed: Q15005)
Alternative names: Microsomal signal peptidase 25 kDa subunit
All UniProt accessions (5): Q15005, E9PI68, E9PL01, E9PRB9, H0YE04
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. Enhances the enzymatic activity of SPC and facilitates the interactions between different components of the translocation site.
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 SPCS2 family.
RefSeq proteins (1): NP_055567* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009582 | Spc2/SPCS2 | Family |
Pfam: PF06703
Enzyme classification (BRENDA):
- EC 3.4.21.89 — Signal peptidase I (BRENDA: 61 organisms, 177 substrates, 150 inhibitors, 43 Km, 55 kcat entries)
Substrate kinetics (BRENDA)
15 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| FSASALAKI | 0.43–0.8 | 19 |
| YFSASALA-4-METHYLCOUMARIN 7-AMIDE | 0.0328–0.0354 | 5 |
| PREPROTEIN SUBSTRATE PONA | 0.0166–0.044 | 4 |
| PHE-SER-ALA-SER-ALA-LEU-ALA-LYS-ILE | 0.33–0.52 | 2 |
| PRO-OMPA-NUCLEASE A | 0.0165–0.032 | 2 |
| Y-NO2-FSASALAKIK-2-AMINOBENZOYL-NH2 | 0.0006–0.11 | 2 |
| ALKALINE PHOSPHATASE SIGNAL PEPTIDE FUSED TO FUL | 0.05 | 1 |
| DECANOYL-LT-P-TAKA-A-SKIDD-OH | 0.988 | 1 |
| DECANOYL-LTPTAKAASKIDD-OH | 0.029 | 1 |
| PHE-SER-ALA-SER-ALA-LEU-ALA-LYS-ILE-NH2 | 1 | 1 |
| PRO-OMPA-NUCLEASE | 0.0165 | 1 |
| TOSYL-GLY-PRO-LYS-P-NITROANILIDE | 0.319 | 1 |
| VAL-LEU-LYS-P-NITROANILIDE | 0.727 | 1 |
| ALA-ALA-PHE-4-METHYLCOUMARYL-7-AMIDE | — | 0 |
| FSASALA-KI | — | 0 |
UniProt features (13 total): modified residue 3, topological domain 3, transmembrane region 2, initiator methionine 1, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 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-Q15005-F1 | 65.48 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 169, 191, 2
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: 192 (showing top):
MORF_MTA1, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, PAL_PRMT5_TARGETS_UP, GOBP_PROTEIN_TARGETING, MORF_RAD21, HSIAO_HOUSEKEEPING_GENES, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MORF_PSMC2, chr11q13, YY1_Q6, ATGTTAA_MIR302C, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP
GO Biological Process (2): obsolete signal peptide processing (GO:0006465), protein targeting to ER (GO:0045047)
GO Molecular Function (2): protein binding (GO:0005515), peptidase activity (GO:0008233)
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 |
|---|---|
| protein targeting | 1 |
| establishment of protein localization to endoplasmic reticulum | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 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
1631 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPCS2 | SPCS1 | Q9Y6A9 | 993 |
| SPCS2 | SPCS3 | P12280 | 866 |
| SPCS2 | H0YNG3 | H0YNG3 | 847 |
| SPCS2 | SEC11C | Q9BY50 | 830 |
| SPCS2 | SRP68 | Q9UHB9 | 595 |
| SPCS2 | SRP54 | P13624 | 578 |
| SPCS2 | SRPRB | Q9Y5M8 | 560 |
| SPCS2 | SEC61G | P38384 | 533 |
| SPCS2 | SRP14 | P37108 | 528 |
| SPCS2 | RPL26 | P61254 | 525 |
| SPCS2 | SRPRA | P08240 | 517 |
| SPCS2 | SSR3 | Q9UNL2 | 496 |
| SPCS2 | SEC61A1 | P38378 | 487 |
| SPCS2 | DAD1 | P46966 | 473 |
| SPCS2 | XRRA1 | Q6P2D8 | 470 |
IntAct
156 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 |
| 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 |
| TOMM22 | XRCC3 | psi-mi:“MI:0914”(association) | 0.640 |
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| EGFR | SPCS2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SPCS2 | EGFR | psi-mi:“MI:0915”(physical association) | 0.550 |
| MGAT4C | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| TCTN2 | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| SEC11C | APOM | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL14 | CRYZL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPC4 | SPCS2 | psi-mi:“MI:0914”(association) | 0.530 |
| ALPL | SPCS2 | psi-mi:“MI:0914”(association) | 0.530 |
| RTN4R | SOAT1 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL14 | SEC11A | psi-mi:“MI:0914”(association) | 0.530 |
| ARSK | CANX | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (244): MIA3 (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), TMEM87A (Co-fractionation), SPCS2 (Proximity Label-MS), SPCS2 (Proximity Label-MS), SPCS2 (Proximity Label-MS)
ESM2 similar proteins: A2VDK9, A4R0J5, A9JRA0, B0FWK4, B8JLV7, D3ZEH5, E1BD52, P83362, Q0VCK9, Q15005, Q28250, Q28GR4, Q2TBU2, Q3SYY9, Q3T134, Q3ZAQ7, Q4R512, Q4R5B4, Q4R5E3, Q4V7U1, Q58DA4, Q5BJI9, Q5BJW3, Q5F3F5, Q5F409, Q5M8Y1, Q5RAY6, Q5RDV3, Q5RF53, Q5RFE0, Q5XIK2, Q5ZI05, Q5ZKG8, Q5ZLL0, Q62302, Q6AZ61, Q6NYF1, Q6UWH6, Q78T54, Q7ZUA6
Diamond homologs: Q15005, Q28250, Q4R512, Q5BJI9, Q5M8Y1, Q5RAY6, Q615A2, Q9CYN2, Q9VYY2, Q9XWW1, P58684
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SPCS2 | “form complex” | “Signal peptidase complex, SEC11C variant” | binding |
| SPCS2 | “form complex” | “Signal peptidase complex, SEC11A variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 159 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 |
|---|---|---|---|
| Attachment and Entry | 5 | 27.1× | 2e-04 |
| Respiratory syncytial virus (RSV) attachment and entry | 5 | 22.4× | 3e-04 |
| Dengue Virus Attachment and Entry | 6 | 14.0× | 4e-04 |
| Retinoid metabolism and transport | 5 | 11.2× | 2e-03 |
| Regulation of clotting cascade | 5 | 10.5× | 2e-03 |
| Maturation of DENV proteins | 5 | 9.5× | 3e-03 |
| Transport of small molecules | 13 | 3.0× | 5e-03 |
| Neutrophil degranulation | 13 | 2.7× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 8 | 10.9× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1017 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:74965028:TTACA:T | acceptor_loss | 1.0000 |
| 11:74965029:TACA:T | acceptor_loss | 1.0000 |
| 11:74965030:ACAG:A | acceptor_loss | 1.0000 |
| 11:74965031:CAG:C | acceptor_loss | 1.0000 |
| 11:74965032:A:AG | acceptor_gain | 1.0000 |
| 11:74965032:A:C | acceptor_loss | 1.0000 |
| 11:74965032:AGT:A | acceptor_gain | 1.0000 |
| 11:74965033:G:GT | acceptor_gain | 1.0000 |
| 11:74965033:GT:G | acceptor_gain | 1.0000 |
| 11:74965033:GTG:G | acceptor_gain | 1.0000 |
| 11:74965033:GTGGA:G | acceptor_gain | 1.0000 |
| 11:74965114:AAAG:A | donor_loss | 1.0000 |
| 11:74965115:AAG:A | donor_loss | 1.0000 |
| 11:74965116:AG:A | donor_loss | 1.0000 |
| 11:74965117:GGTA:G | donor_loss | 1.0000 |
| 11:74965118:G:T | donor_loss | 1.0000 |
| 11:74965119:T:G | donor_loss | 1.0000 |
| 11:74969573:T:TA | acceptor_gain | 1.0000 |
| 11:74949371:G:GT | donor_gain | 0.9900 |
| 11:74949395:ATAAG:A | donor_loss | 0.9900 |
| 11:74949397:AAG:A | donor_loss | 0.9900 |
| 11:74949398:AGGT:A | donor_loss | 0.9900 |
| 11:74949399:GGT:G | donor_loss | 0.9900 |
| 11:74949400:GTGAG:G | donor_loss | 0.9900 |
| 11:74949401:T:G | donor_loss | 0.9900 |
| 11:74965030:ACAGT:A | acceptor_gain | 0.9900 |
| 11:74965032:AGTG:A | acceptor_gain | 0.9900 |
| 11:74965033:GTGG:G | acceptor_gain | 0.9900 |
| 11:74969531:T:G | acceptor_gain | 0.9900 |
| 11:74969536:G:A | acceptor_gain | 0.9900 |
AlphaMissense
1506 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:74965070:T:A | W51R | 1.000 |
| 11:74965070:T:C | W51R | 1.000 |
| 11:74965072:G:C | W51C | 1.000 |
| 11:74965072:G:T | W51C | 1.000 |
| 11:74965082:G:C | A55P | 1.000 |
| 11:74965083:C:A | A55D | 1.000 |
| 11:74965086:T:A | V56E | 1.000 |
| 11:74965088:A:G | K57E | 1.000 |
| 11:74965089:A:T | K57I | 1.000 |
| 11:74965090:A:C | K57N | 1.000 |
| 11:74965090:A:T | K57N | 1.000 |
| 11:74965093:C:A | N58K | 1.000 |
| 11:74965093:C:G | N58K | 1.000 |
| 11:74965098:T:C | L60S | 1.000 |
| 11:74965098:T:G | L60W | 1.000 |
| 11:74965100:G:C | D61H | 1.000 |
| 11:74965100:G:T | D61Y | 1.000 |
| 11:74965101:A:T | D61V | 1.000 |
| 11:74965103:G:C | D62H | 1.000 |
| 11:74965104:A:C | D62A | 1.000 |
| 11:74965104:A:G | D62G | 1.000 |
| 11:74965104:A:T | D62V | 1.000 |
| 11:74965110:C:A | A64D | 1.000 |
| 11:74965114:A:C | K65N | 1.000 |
| 11:74965114:A:T | K65N | 1.000 |
| 11:74965814:C:A | R84S | 1.000 |
| 11:74965818:T:A | L85H | 1.000 |
| 11:74965818:T:C | L85P | 1.000 |
| 11:74965826:T:C | C88R | 1.000 |
| 11:74965827:G:A | C88Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000011833 (11:74949044 C>G), RS1000303914 (11:74954241 A>G), RS1000352338 (11:74970877 A>G), RS1000467105 (11:74973416 T>A), RS1000589867 (11:74966369 C>G,T), RS1000747254 (11:74959179 A>C), RS1000859050 (11:74964069 TGATAA>T), RS1000900386 (11:74952780 G>T), RS1000911763 (11:74953074 G>A), RS1000936669 (11:74973772 G>A,T), RS1000970010 (11:74947689 G>A), RS1000972786 (11:74966135 G>A), RS1001179808 (11:74959460 A>C,T), RS1001287141 (11:74978903 A>G,T), RS1001362312 (11:74979255 C>A,T)
Disease associations
OMIM: gene MIM:619411 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067262 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.04 | Kd | 916.1 | nM | CHEMBL3752910 |
| 6.04 | ED50 | 916.1 | nM | CHEMBL3752910 |
| 5.53 | Kd | 2987 | nM | CHEMBL5653589 |
| 5.53 | ED50 | 2987 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149470: Binding affinity to human SPCS2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.9161 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149470: Binding affinity to human SPCS2 incubated for 45 mins by Kinobead based pull down assay | kd | 2.9871 | uM |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, affects expression, decreases expression | 4 |
| Tunicamycin | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | affects expression | 1 |
| Cisplatin | decreases reaction, decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment, decreases expression | 1 |
| Piroxicam | decreases expression, decreases reaction | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Selenium | affects cotreatment, decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Vitamin E | decreases expression, affects cotreatment | 1 |
| Zinc | increases expression | 1 |
| Cyclosporine | increases methylation, increases expression | 1 |
| Thapsigargin | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL5652512 | Binding | Binding affinity to human SPCS2 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 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.