SCAI
gene geneOn this page
Also known as FLJ36664NET40
Summary
SCAI (suppressor of cancer cell invasion, HGNC:26709) is a protein-coding gene on chromosome 9q33.3, encoding Protein SCAI (Q8N9R8). Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity.
This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 286205 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_001144877
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26709 |
| Approved symbol | SCAI |
| Name | suppressor of cancer cell invasion |
| Location | 9q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ36664, NET40 |
| Ensembl gene | ENSG00000173611 |
| Ensembl biotype | protein_coding |
| OMIM | 619222 |
| Entrez | 286205 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000336505, ENST00000373549, ENST00000467917, ENST00000468569, ENST00000477186, ENST00000487795, ENST00000494102, ENST00000858985, ENST00000858986, ENST00000858987, ENST00000923997, ENST00000952247
RefSeq mRNA: 2 — MANE Select: NM_001144877
NM_001144877, NM_173690
CCDS: CCDS43877, CCDS48017
Canonical transcript exons
ENST00000336505 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000277 | 125143385 | 125143528 |
| ENSE00001182054 | 124976114 | 124976186 |
| ENSE00001182059 | 124994934 | 124995015 |
| ENSE00001182069 | 125003469 | 125003570 |
| ENSE00001182077 | 125019107 | 125019205 |
| ENSE00001182080 | 125020673 | 125020769 |
| ENSE00001182083 | 125026812 | 125026910 |
| ENSE00001274967 | 124999891 | 124999990 |
| ENSE00001274989 | 125018799 | 125018951 |
| ENSE00001275008 | 125028392 | 125028478 |
| ENSE00001335371 | 125055876 | 125056007 |
| ENSE00001344919 | 125029644 | 125029739 |
| ENSE00001460837 | 125142633 | 125142677 |
| ENSE00001953263 | 124942608 | 124952953 |
| ENSE00003518228 | 124971671 | 124971844 |
| ENSE00003521292 | 124971370 | 124971470 |
| ENSE00003534160 | 125003114 | 125003215 |
| ENSE00003671369 | 125001965 | 125002043 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6263 / max 173.3128, expressed in 1739 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102460 | 10.5233 | 1722 |
| 102461 | 1.1031 | 633 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 97.15 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.59 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.41 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.73 | gold quality |
| oocyte | CL:0000023 | 89.17 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.26 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.09 | gold quality |
| parietal lobe | UBERON:0001872 | 87.81 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.71 | gold quality |
| secondary oocyte | CL:0000655 | 87.45 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.36 | gold quality |
| occipital lobe | UBERON:0002021 | 86.22 | gold quality |
| entorhinal cortex | UBERON:0002728 | 85.67 | gold quality |
| visceral pleura | UBERON:0002401 | 84.84 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.65 | gold quality |
| cortical plate | UBERON:0005343 | 82.29 | gold quality |
| sural nerve | UBERON:0015488 | 81.08 | gold quality |
| pleura | UBERON:0000977 | 80.89 | gold quality |
| parietal pleura | UBERON:0002400 | 80.66 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 80.01 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 79.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.06 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.73 | gold quality |
| corpus callosum | UBERON:0002336 | 78.18 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.16 | gold quality |
| frontal cortex | UBERON:0001870 | 78.15 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.94 | gold quality |
| cerebral cortex | UBERON:0000956 | 77.60 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.49 | gold quality |
| neocortex | UBERON:0001950 | 77.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HOXB4, MRTFA
miRNA regulators (miRDB)
548 targeting SCAI, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
Literature-anchored findings (GeneRIF, showing 17)
- Genome-wide expression analysis surprisingly reveals that one of the strongest upregulated genes after suppression of SCAI is beta1-integrin (PMID:19350017)
- SCAI is a novel transcriptional cofactor that regulates epithelial-to-mesenchymal transition and renal fibrosis. (PMID:23178076)
- SCAI is a specific interaction partner for KMD3B. (PMID:23593242)
- Downregulation of SCAI enhances glioma cell invasion and cancer stem cell like phenotype.Downregulation of SCAI activates the Wnt/beta-catenin signaling. (PMID:24785374)
- miR-1228 promoted breast cancer proliferation, invasion and migration was mediated by MOAP1 and SCAI. (PMID:26261546)
- miR-625-3p exerts its oncogenic functions through regulation of SCAI/E-cadherin/MMP-9 pathways (PMID:26314959)
- Data suggest that SCAI inhibits RIF1 function to allow BRCA1-mediated repair, which possibly includes alt-NHEJ and resection-dependent NHEJ in G1, as well as HDR in S/G2. (PMID:28700933)
- High SCAI expression is associated with gastric, prostate, and colorectal cancer. (PMID:28815470)
- Whole-genome sequencing and confirmatory Sanger sequencing of junction PCR products were used to show that in each of the 5 cases, the SMAD4 processed gene was integrated at the same position on chromosome 9, located within the last intron of the SCAI gene (PMID:28867604)
- This study provides evidence that CAF exosomal miR-1228 is able to promote osteosarcoma invasion and migration by targeting SCAI. (PMID:30180920)
- SCAI binds to miR-1270 which inversely regulates SCAI gene expression in papillary thyroid cancer cells. (PMID:30551495)
- MicroRNA-625-3p was highly expressed in oral squamous cell carcinoma (OSCC) tissues. OSCC patients with T3+T4 stage had higher expression of microRNA-625-3p than those with T1+T2 stage. SCAI was identified as a target gene of microRNA-625-3p. ROC curve showed that microRNA-625-3p and SCAI exert certain values in diagnosing OSCC. MicroRNA-625-3p promoted migration of OSCC cells, which was reversed by SCAI knockdown. (PMID:30720172)
- Mir-5100 Mediates Proliferation, Migration and Invasion of Oral Squamous Cell Carcinoma Cells Via Targeting SCAI. (PMID:31851859)
- miR-371b-5p promotes cell proliferation, migration and invasion in non-small cell lung cancer via SCAI. (PMID:33103723)
- The Protexin complex counters resection on stalled forks to promote homologous recombination and crosslink repair. (PMID:34597596)
- Bridging Gaps in HDR Improvement: The Role of MAD2L2, SCAI, and SCR7. (PMID:37047677)
- Hsa_circ_0052611 and mir-767-5p guide the warburg effect, migration, and invasion of BRCA cells through modulating SCAI. (PMID:37743442)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scai | ENSDARG00000060865 |
| mus_musculus | Scai | ENSMUSG00000035236 |
| rattus_norvegicus | Scai | ENSRNOG00000025278 |
| drosophila_melanogaster | CG13293 | FBGN0035677 |
Protein
Protein identifiers
Protein SCAI — Q8N9R8 (reviewed: Q8N9R8)
Alternative names: Suppressor of cancer cell invasion protein
All UniProt accessions (4): Q8N9R8, H7C4U2, H7C5A3, Q3SXZ0
UniProt curated annotations — full annotation on UniProt →
Function. Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity. May function in the RHOA-DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1.
Subunit / interactions. Interacts with DIAPH1. Forms a nuclear ternary complex with MRTFA and SRF.
Subcellular location. Membrane. Nucleus. Cytoplasm.
Similarity. Belongs to the SCAI family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N9R8-1 | 1 | yes |
| Q8N9R8-2 | 2 |
RefSeq proteins (2): NP_001138349, NP_775961 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016607 | SCAI_metazoan/Viridiplantae | Family |
| IPR022709 | SCAI | Family |
Pfam: PF12070
UniProt features (10 total): region of interest 3, sequence conflict 2, chain 1, transmembrane region 1, modified residue 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N9R8-F1 | 86.01 | 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.
Post-translational modifications (1): 64
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 309 (showing top):
GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, RACCACAR_AML_Q6, TGACCTY_ERR1_Q2, MEF2_02, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, PID_RHOA_PATHWAY, YGACNNYACAR_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION, WTGAAAT_UNKNOWN, GOBP_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION, AFP1_Q6, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN
GO Biological Process (5): DNA-templated transcription (GO:0006351), negative regulation of cell migration (GO:0030336), negative regulation of Rho protein signal transduction (GO:0035024), negative regulation of signal transduction (GO:0009968), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (2): transcription corepressor activity (GO:0003714), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear membrane (GO:0031965), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase Effectors | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| Rho protein signal transduction | 1 |
| regulation of Rho protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| signal transduction | 1 |
| regulation of signal transduction | 1 |
| negative regulation of cell communication | 1 |
| negative regulation of signaling | 1 |
| negative regulation of response to stimulus | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
828 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCAI | TP53BP1 | Q12888 | 686 |
| SCAI | ADCY10 | Q96PN6 | 654 |
| SCAI | PYDC1 | Q8WXC3 | 446 |
| SCAI | SERPINA5 | P05154 | 440 |
| SCAI | BRCA2 | P51587 | 409 |
| SCAI | POLG | P54098 | 402 |
| SCAI | RBMX2 | Q9Y388 | 398 |
| SCAI | HOMER1 | Q86YM7 | 393 |
| SCAI | SNX25 | Q9H3E2 | 388 |
| SCAI | ALB | P02768 | 380 |
| SCAI | NAALADL2 | Q58DX5 | 380 |
| SCAI | NANS | Q9NR45 | 370 |
| SCAI | ZNF354C | Q86Y25 | 353 |
| SCAI | SLC25A14 | O95258 | 353 |
| SCAI | TLE3 | Q04726 | 353 |
| SCAI | GPR101 | Q96P66 | 353 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ITPKB | SCAI | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIN1 | SCAI | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAI | SOX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OGT | SCAI | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDIPT | SCAI | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBX1 | ZNF292 | psi-mi:“MI:0914”(association) | 0.530 |
| CACNG5 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| APBA3 | DUSP11 | psi-mi:“MI:0914”(association) | 0.530 |
| NPTN | TNPO2 | psi-mi:“MI:0914”(association) | 0.530 |
| APBA3 | CLSTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| Cbx1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDCA5 | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF73 | ECI2 | psi-mi:“MI:0914”(association) | 0.350 |
| APBB1 | SSPOP | psi-mi:“MI:0914”(association) | 0.350 |
| BTAF1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC85A | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAXC | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| INSYN1 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF1A | KHNYN | psi-mi:“MI:0914”(association) | 0.350 |
| CSRNP1 | TAF5L | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL9 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNG5 | psi-mi:“MI:0914”(association) | 0.350 | |
| PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CBX3 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (72): SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-Western), SCAI (Affinity Capture-Western), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Affinity Capture-MS), SCAI (Proximity Label-MS)
ESM2 similar proteins: A1L1C7, O08873, O42611, O60716, O94776, O94967, P83094, Q01826, Q0P5J8, Q15542, Q3UHE1, Q3UVG3, Q4R8N2, Q58A45, Q5EY87, Q5JSJ4, Q5M7R9, Q5R7S4, Q5RAR8, Q5TKA1, Q60611, Q640Q5, Q658Y4, Q68FH0, Q6ISB3, Q6NT76, Q6TEP1, Q80U28, Q8BIE6, Q8BJA3, Q8C092, Q8C0V0, Q8C735, Q8C8N2, Q8CGF6, Q8K5C0, Q8N9R8, Q8VI24, Q8WXG6, Q90ZY6
Diamond homologs: Q54YY1, Q8C8N2, Q8N9R8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3954 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:124952850:T:TA | donor_gain | 1.0000 |
| 9:124971466:CTGAT:C | acceptor_gain | 1.0000 |
| 9:124971705:A:AC | donor_gain | 1.0000 |
| 9:124975372:C:CT | acceptor_gain | 1.0000 |
| 9:124975372:C:T | acceptor_gain | 1.0000 |
| 9:124975390:C:CC | acceptor_gain | 1.0000 |
| 9:124975400:T:TC | acceptor_gain | 1.0000 |
| 9:124994927:AACTC:A | donor_loss | 1.0000 |
| 9:124994929:CTCAC:C | donor_loss | 1.0000 |
| 9:124994930:TCAC:T | donor_loss | 1.0000 |
| 9:124994931:CA:C | donor_loss | 1.0000 |
| 9:124994932:A:AT | donor_loss | 1.0000 |
| 9:124994933:CCTTA:C | donor_loss | 1.0000 |
| 9:124999886:CATA:C | donor_loss | 1.0000 |
| 9:124999887:ATA:A | donor_loss | 1.0000 |
| 9:124999888:TA:T | donor_loss | 1.0000 |
| 9:124999889:A:AC | donor_gain | 1.0000 |
| 9:124999889:AC:A | donor_gain | 1.0000 |
| 9:124999890:C:CT | donor_gain | 1.0000 |
| 9:124999890:CC:C | donor_gain | 1.0000 |
| 9:124999890:CCA:C | donor_gain | 1.0000 |
| 9:124999890:CCAG:C | donor_gain | 1.0000 |
| 9:124999991:C:CC | acceptor_gain | 1.0000 |
| 9:124999991:C:CG | acceptor_loss | 1.0000 |
| 9:125001367:T:C | donor_gain | 1.0000 |
| 9:125001952:T:A | donor_gain | 1.0000 |
| 9:125003110:ATACC:A | donor_loss | 1.0000 |
| 9:125003111:TACCT:T | donor_loss | 1.0000 |
| 9:125003112:A:AC | donor_gain | 1.0000 |
| 9:125003112:A:AG | donor_loss | 1.0000 |
AlphaMissense
3972 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:124976155:A:T | V453D | 1.000 |
| 9:124994982:C:A | R426S | 1.000 |
| 9:124994982:C:G | R426S | 1.000 |
| 9:124994983:C:A | R426M | 1.000 |
| 9:124994983:C:G | R426T | 1.000 |
| 9:124999972:C:T | G388D | 1.000 |
| 9:124999973:C:G | G388R | 1.000 |
| 9:124999975:C:T | G387E | 1.000 |
| 9:125002018:A:G | L364P | 1.000 |
| 9:125003157:G:C | P341R | 1.000 |
| 9:125003157:G:T | P341Q | 1.000 |
| 9:125003166:A:G | L338P | 1.000 |
| 9:125003169:A:G | L337P | 1.000 |
| 9:125003174:C:A | K335N | 1.000 |
| 9:125003174:C:G | K335N | 1.000 |
| 9:125003176:T:C | K335E | 1.000 |
| 9:125003181:G:T | P333H | 1.000 |
| 9:125003183:G:C | N332K | 1.000 |
| 9:125003183:G:T | N332K | 1.000 |
| 9:125003521:A:G | L304P | 1.000 |
| 9:125003536:C:G | R299P | 1.000 |
| 9:125003545:T:A | D296V | 1.000 |
| 9:125003546:C:G | D296H | 1.000 |
| 9:125003551:G:A | T294I | 1.000 |
| 9:125003554:A:G | L293P | 1.000 |
| 9:125003557:T:A | E292V | 1.000 |
| 9:125003558:C:T | E292K | 1.000 |
| 9:125003559:A:C | S291R | 1.000 |
| 9:125003559:A:T | S291R | 1.000 |
| 9:125003560:C:A | S291I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000019428 (9:125097075 G>C,T), RS1000019576 (9:125107245 C>A,T), RS1000026900 (9:125064893 T>C), RS1000034955 (9:125107726 C>T), RS1000052846 (9:125014392 G>C), RS1000063129 (9:125076782 C>G), RS1000081283 (9:124972366 G>C), RS1000082104 (9:124984970 C>T), RS1000102531 (9:125032087 A>G), RS1000112735 (9:125145125 C>T), RS1000127518 (9:124969062 C>A), RS1000129904 (9:125100106 C>T), RS1000140920 (9:124965749 T>C,G), RS1000143117 (9:125143253 C>A,G,T), RS1000167110 (9:125111816 C>A)
Disease associations
OMIM: gene MIM:619222 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004278_6 | Pulse pressure | 3.000000e-14 |
| GCST006946_2 | Worry too long after an embarrassing experience | 7.000000e-10 |
| GCST007269_181 | Pulse pressure | 2.000000e-14 |
| GCST010002_280 | Refractive error | 1.000000e-13 |
| GCST011702_11 | Smoking cessation | 4.000000e-09 |
| GCST90000047_201 | Age at first sexual intercourse | 1.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0009589 | worry measurement |
| EFO:0004319 | smoking cessation |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Aflatoxin B1 | affects methylation, decreases methylation | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
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.