SDE2
gene geneOn this page
Also known as FLJ35382
Summary
SDE2 (spliceosome associated SDE2, HGNC:26643) is a protein-coding gene on chromosome 1q42.12, encoding Splicing regulator SDE2 (Q6IQ49). Inhibits translesion DNA synthesis by preventing monoubiquitination of PCNA, this is necessary to counteract damage due to ultraviolet light-induced replication stress. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
Enables damaged DNA binding activity and snoRNA binding activity. Involved in several processes, including cellular response to UV; gene expression; and mitotic G1 DNA damage checkpoint signaling. Located in several cellular components, including Golgi apparatus; cytosol; and nuclear speck.
Source: NCBI Gene 163859 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 67 total
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_152608
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26643 |
| Approved symbol | SDE2 |
| Name | spliceosome associated SDE2 |
| Location | 1q42.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35382 |
| Ensembl gene | ENSG00000143751 |
| Ensembl biotype | protein_coding |
| OMIM | 620743 |
| Entrez | 163859 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000272091, ENST00000921002
RefSeq mRNA: 1 — MANE Select: NM_152608
NM_152608
CCDS: CCDS41473
Canonical transcript exons
ENST00000272091 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000961804 | 225992891 | 225993002 |
| ENSE00000961805 | 225992398 | 225992567 |
| ENSE00001205040 | 225987896 | 225988388 |
| ENSE00001205057 | 225991243 | 225991363 |
| ENSE00001902148 | 225982702 | 225985523 |
| ENSE00001935405 | 225999193 | 225999343 |
| ENSE00003689286 | 225995266 | 225995383 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 97.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.6362 / max 471.9752, expressed in 1814 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17738 | 22.6362 | 1814 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.66 | gold quality |
| oocyte | CL:0000023 | 96.18 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.50 | gold quality |
| deltoid | UBERON:0001476 | 94.24 | silver quality |
| lower lobe of lung | UBERON:0008949 | 93.68 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.64 | silver quality |
| pericardium | UBERON:0002407 | 93.45 | gold quality |
| thymus | UBERON:0002370 | 93.18 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.04 | gold quality |
| adult organism | UBERON:0007023 | 93.04 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.94 | gold quality |
| upper leg skin | UBERON:0004262 | 92.62 | gold quality |
| skin of hip | UBERON:0001554 | 92.16 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.15 | gold quality |
| sperm | CL:0000019 | 91.87 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.78 | gold quality |
| parietal pleura | UBERON:0002400 | 91.19 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.05 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.76 | gold quality |
| bone marrow | UBERON:0002371 | 90.61 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.53 | silver quality |
| visceral pleura | UBERON:0002401 | 90.28 | gold quality |
| caput epididymis | UBERON:0004358 | 90.26 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.25 | gold quality |
| vena cava | UBERON:0004087 | 90.11 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.68 | gold quality |
| nasopharynx | UBERON:0001728 | 89.67 | gold quality |
| biceps brachii | UBERON:0001507 | 89.60 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 89.51 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.50 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.85 |
| E-MTAB-6386 | no | 360.91 |
| E-GEOD-70580 | no | 139.23 |
| E-CURD-112 | no | 2.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
122 targeting SDE2, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| 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-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- collectively, this study uncovers a new role for CRL4CDT2 in protecting genomic integrity against replication stress via regulated proteolysis of PCNA-associated SDE2 and provides insights into how an integrated UBL domain within linear polypeptide sequence controls protein stability and function. (PMID:27906959)
- Conditional degradation of SDE2 by the Arg/N-End rule pathway regulates stress response at replication forks. (PMID:30698750)
- SDE2 integrates into the TIMELESS-TIPIN complex to protect stalled replication forks. (PMID:33127907)
- SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing. (PMID:34365507)
- Extended DNA-binding interfaces beyond the canonical SAP domain contribute to the function of replication stress regulator SDE2 at DNA replication forks. (PMID:35850305)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sde2 | ENSDARG00000024124 |
| mus_musculus | Sde2 | ENSMUSG00000038806 |
| rattus_norvegicus | Sde2 | ENSRNOG00000003247 |
| drosophila_melanogaster | CG5986 | FBGN0043455 |
| caenorhabditis_elegans | WBGENE00009996 |
Paralogs (1): SF3A3 (ENSG00000183431)
Protein
Protein identifiers
Splicing regulator SDE2 — Q6IQ49 (reviewed: Q6IQ49)
Alternative names: Replication stress response regulator SDE2
All UniProt accessions (1): Q6IQ49
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits translesion DNA synthesis by preventing monoubiquitination of PCNA, this is necessary to counteract damage due to ultraviolet light-induced replication stress. SDE2 is cleaved following PCNA binding, and its complete degradation is necessary to allow S-phase progression following DNA damage. Plays a role in pre-mRNA splicing by facilitating excision of relatively short introns featuring weak 3’-splice sites (ss) and high GC content. May recruit CACTIN to the spliceosome. Plays a role in ribosome biogenesis by enabling SNORD3- and SNORD118-dependent cleavage of the 47S rRNA precursor. Binds ncRNA (non-coding RNA) including the snoRNAs SNORD3 and SNORD118.
Subunit / interactions. Interacts (via PIP-box) with PCNA; the interaction is direct and prevents ultraviolet light induced monoubiquitination of PCNA. Interacts with FBL/fibrillarin. Interacts with CACTIN. Interacts with SF3B1. Interacts with U2AF1.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Ubiquitously expressed; enriched in brain, lung and liver.
Post-translational modifications. Upon binding to PCNA, the N-terminal UBL (ubiquitin-like) propeptide is cleaved at Gly-77 by an unidentified deubiquitinating enzyme; the resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner. Both SDE2-UBL and the mature SDE2 are polyubiquitinated.
Domain organisation. The PIP-box (PCNA interacting peptide) motif mediates both the interaction with PCNA and cleavage of the SDE2 precursor by a deubiquitinating enzyme. The SAP domain is necessary for specific binding to DNA. The propeptide displays a ubiquitin-like fold.
Similarity. Belongs to the SDE2 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6IQ49-1 | 1 | yes |
| Q6IQ49-2 | 2 | |
| Q6IQ49-3 | 3 |
RefSeq proteins (1): NP_689821* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR025086 | SDE2/SF3A3_SAP | Domain |
| IPR051421 | RNA_Proc_DNA_Dmg_Regulator | Family |
| IPR053821 | Sde2_Ubi | Domain |
| IPR053822 | SDE2-like_dom | Domain |
Pfam: PF13297, PF22781, PF22782
UniProt features (29 total): modified residue 5, helix 4, mutagenesis site 3, splice variant 2, sequence conflict 2, turn 2, region of interest 2, compositionally biased region 2, propeptide 1, chain 1, sequence variant 1, domain 1, coiled-coil region 1, short sequence motif 1, site 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8C6J | ELECTRON MICROSCOPY | 2.8 |
| 6QDV | ELECTRON MICROSCOPY | 3.3 |
| 9FMD | ELECTRON MICROSCOPY | 3.3 |
| 8RO2 | ELECTRON MICROSCOPY | 3.5 |
| 7N99 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6IQ49-F1 | 65.59 | 0.21 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 77–78 (cleavage)
Post-translational modifications (5): 266, 274, 278, 319, 326
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 47–48 | no binding to pcna; no cleavage at gly-77. |
| 76–77 | no cleavage at gly-77. |
| 78 | no effect on cleavage at gly-77. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 212 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_BCELL_UP, GOBP_RIBOSOME_BIOGENESIS, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_CELL_CYCLE_PHASE_TRANSITION, MAZ_Q6, GOBP_PROTEIN_MATURATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION
GO Biological Process (11): endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000479), DNA replication (GO:0006260), protein processing (GO:0016485), protein ubiquitination (GO:0016567), mitotic G1 DNA damage checkpoint signaling (GO:0031571), cellular response to UV (GO:0034644), mRNA cis splicing, via spliceosome (GO:0045292), cell division (GO:0051301), mRNA processing (GO:0006397), RNA splicing (GO:0008380), ribosome biogenesis (GO:0042254)
GO Molecular Function (5): damaged DNA binding (GO:0003684), snoRNA binding (GO:0030515), DNA binding (GO:0003677), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear speck (GO:0016607)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| cellular anatomical structure | 3 |
| cytoplasm | 3 |
| RNA processing | 2 |
| nucleic acid binding | 2 |
| rRNA processing | 1 |
| DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| proteolysis | 1 |
| protein maturation | 1 |
| protein modification by small protein conjugation | 1 |
| mitotic G1 phase | 1 |
| mitotic DNA damage checkpoint signaling | 1 |
| mitotic G1/S transition checkpoint signaling | 1 |
| response to UV | 1 |
| cellular response to light stimulus | 1 |
| mRNA splicing, via spliceosome | 1 |
| cellular process | 1 |
| mRNA metabolic process | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| DNA binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
804 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SDE2 | CDC5L | Q99459 | 667 |
| SDE2 | PRKRIP1 | Q9H875 | 595 |
| SDE2 | CACTIN | Q8WUQ7 | 591 |
| SDE2 | FAM32A | Q9Y421 | 575 |
| SDE2 | SPRTN | Q9H040 | 508 |
| SDE2 | SLU7 | O95391 | 487 |
| SDE2 | YJU2 | Q9BW85 | 474 |
| SDE2 | SPEG | Q15772 | 471 |
| SDE2 | GART | P22102 | 469 |
| SDE2 | CRNKL1 | Q9BZJ0 | 464 |
| SDE2 | GNL3L | Q9NVN8 | 461 |
| SDE2 | OR1M1 | Q8NGA1 | 455 |
| SDE2 | RTF2 | Q9BY42 | 452 |
| SDE2 | CENPU | Q71F23 | 451 |
| SDE2 | UBXN7 | O94888 | 450 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| SDE2 | HSPBAP1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| SLX4 | SMAP | psi-mi:“MI:0914”(association) | 0.350 |
| SDE2 | HOXB6 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| H2BC10 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GPKOW | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNRNPC | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SF3B4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SUPV3L1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNRNPA1 | CNOT1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (43): SDE2 (Proximity Label-MS), SDE2 (Affinity Capture-MS), SDE2 (Affinity Capture-MS), SDE2 (Affinity Capture-MS), SDE2 (Affinity Capture-MS), SDE2 (Affinity Capture-MS), SDE2 (Affinity Capture-MS), SDE2 (Reconstituted Complex), DTL (Affinity Capture-Western), SDE2 (Affinity Capture-MS), SDE2 (Affinity Capture-RNA), SDE2 (Affinity Capture-MS), HSPBAP1 (Affinity Capture-MS), HOXA5 (Affinity Capture-MS), HOXB6 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8ENT6, A2BGP7, A2CJ06, B1H1W9, F6RRD7, O00124, O55036, P54274, Q1LV50, Q1LWH4, Q1T7B8, Q28HU3, Q3KNJ2, Q3U1D0, Q3US16, Q4KLN8, Q4V832, Q5I0E6, Q5I2W8, Q5NVA9, Q5RA37, Q5RET9, Q5XI46, Q5ZIN2, Q6AYI4, Q6DRL4, Q6IQ49, Q6IRN0, Q6NV18, Q6P1H6, Q7Z2Z1, Q7Z4M0, Q8BJW7, Q8BKT3, Q8BMG1, Q8BMI4, Q8BQ33, Q8IXW5, Q8K1J5, Q8VC34
Diamond homologs: O14113, Q07G43, Q5BJN8, Q5RET9, Q6IQ49, Q6NRI5, Q7T293, Q8K1J5, O46106, O59706, Q12874, Q9D554, Q9FG01, P19736
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DTL | “down-regulates quantity by destabilization” | SDE2 | binding |
| Cullin4-RBX1-DDB1 | “down-regulates quantity by destabilization” | SDE2 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 18 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 |
|---|---|---|---|
| Dengue Virus-Host Interactions | 5 | 19.0× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1067 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:225985304:A:AC | donor_gain | 1.0000 |
| 1:225985313:T:TA | donor_gain | 1.0000 |
| 1:225985314:C:A | donor_gain | 1.0000 |
| 1:225987890:A:AC | donor_gain | 1.0000 |
| 1:225987891:C:CC | donor_gain | 1.0000 |
| 1:225987891:CTTA:C | donor_gain | 1.0000 |
| 1:225987892:TTA:T | donor_loss | 1.0000 |
| 1:225987894:A:AC | donor_gain | 1.0000 |
| 1:225987894:ACTG:A | donor_gain | 1.0000 |
| 1:225987895:C:CT | donor_gain | 1.0000 |
| 1:225987895:CT:C | donor_gain | 1.0000 |
| 1:225987895:CTG:C | donor_gain | 1.0000 |
| 1:225987895:CTGC:C | donor_gain | 1.0000 |
| 1:225987895:CTGCG:C | donor_gain | 1.0000 |
| 1:225987915:T:A | donor_gain | 1.0000 |
| 1:225991238:CTTA:C | donor_loss | 1.0000 |
| 1:225991239:TTAC:T | donor_loss | 1.0000 |
| 1:225991240:TACCA:T | donor_loss | 1.0000 |
| 1:225991241:A:AC | donor_gain | 1.0000 |
| 1:225991241:AC:A | donor_gain | 1.0000 |
| 1:225991241:ACCA:A | donor_loss | 1.0000 |
| 1:225991242:C:CT | donor_gain | 1.0000 |
| 1:225991242:CC:C | donor_gain | 1.0000 |
| 1:225991242:CCA:C | donor_gain | 1.0000 |
| 1:225991242:CCAG:C | donor_gain | 1.0000 |
| 1:225991242:CCAGA:C | donor_gain | 1.0000 |
| 1:225991359:CATAC:C | acceptor_gain | 1.0000 |
| 1:225991361:TAC:T | acceptor_gain | 1.0000 |
| 1:225991362:AC:A | acceptor_gain | 1.0000 |
| 1:225991363:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
2956 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:225992915:A:G | L109P | 0.999 |
| 1:225992917:T:A | R108S | 0.999 |
| 1:225992917:T:G | R108S | 0.999 |
| 1:225992918:C:G | R108T | 0.999 |
| 1:225992920:C:A | R107S | 0.999 |
| 1:225992920:C:G | R107S | 0.999 |
| 1:225992921:C:G | R107T | 0.999 |
| 1:225992924:C:T | G106E | 0.999 |
| 1:225992930:A:G | L104P | 0.999 |
| 1:225992933:T:G | D103A | 0.999 |
| 1:225992936:C:G | R102P | 0.999 |
| 1:225992987:A:T | L85H | 0.999 |
| 1:225992998:A:C | F81L | 0.999 |
| 1:225992998:A:T | F81L | 0.999 |
| 1:225993000:A:G | F81L | 0.999 |
| 1:225992912:C:G | R110P | 0.998 |
| 1:225992919:T:C | R108G | 0.998 |
| 1:225992921:C:A | R107M | 0.998 |
| 1:225992930:A:T | L104H | 0.998 |
| 1:225992932:A:C | D103E | 0.998 |
| 1:225992932:A:T | D103E | 0.998 |
| 1:225992933:T:A | D103V | 0.998 |
| 1:225992933:T:C | D103G | 0.998 |
| 1:225992934:C:G | D103H | 0.998 |
| 1:225992987:A:G | L85P | 0.998 |
| 1:225992996:C:T | G82E | 0.998 |
| 1:225992555:C:A | W121C | 0.997 |
| 1:225992555:C:G | W121C | 0.997 |
| 1:225992913:G:T | R110S | 0.997 |
| 1:225992924:C:A | G106V | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000195235 (1:225994095 T>G), RS1000204923 (1:225993788 G>A,C,T), RS1000458350 (1:225999654 A>G), RS1000514442 (1:225988983 G>A,C), RS1000519694 (1:225995502 T>G), RS1000815645 (1:225990332 T>C), RS1000846951 (1:225990023 C>T), RS1000976718 (1:225983471 T>C), RS1000982584 (1:225995203 T>C), RS1001037236 (1:225984585 T>G), RS1001087761 (1:225990105 C>A), RS1001101170 (1:225982974 A>G), RS1001140285 (1:225996589 C>T), RS1001183427 (1:225985597 C>T), RS1001422384 (1:225984236 A>G)
Disease associations
OMIM: gene MIM:620743 | 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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Arsenic | affects expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| ginger extract | decreases expression, decreases reaction, increases abundance | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression, decreases reaction, increases abundance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| gossypol acetic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| abrine | increases expression | 1 |
| elesclomol | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Benzo(a)pyrene | 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.