SERINC3
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Also known as DIFF33TDESBBI99TMS-1AIGP1
Summary
SERINC3 (serine incorporator 3, HGNC:11699) is a protein-coding gene on chromosome 20q13.12, encoding Serine incorporator 3 (Q13530). Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection.
Enables phospholipid scramblase activity. Involved in antiviral innate immune response and plasma membrane phospholipid scrambling. Located in plasma membrane.
Source: NCBI Gene 10955 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 90 total
- MANE Select transcript:
NM_006811
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11699 |
| Approved symbol | SERINC3 |
| Name | serine incorporator 3 |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIFF33, TDE, SBBI99, TMS-1, AIGP1 |
| Ensembl gene | ENSG00000132824 |
| Ensembl biotype | protein_coding |
| OMIM | 607165 |
| Entrez | 10955 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 16 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000255175, ENST00000342374, ENST00000411544, ENST00000468234, ENST00000885443, ENST00000885444, ENST00000885445, ENST00000885446, ENST00000885447, ENST00000885448, ENST00000885449, ENST00000885450, ENST00000930100, ENST00000930101, ENST00000967986, ENST00000967987, ENST00000967988
RefSeq mRNA: 2 — MANE Select: NM_006811
NM_006811, NM_198941
CCDS: CCDS13333
Canonical transcript exons
ENST00000342374 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000906879 | 44501073 | 44501300 |
| ENSE00000906880 | 44503815 | 44503995 |
| ENSE00000906881 | 44504801 | 44504891 |
| ENSE00000906882 | 44506827 | 44506996 |
| ENSE00000906883 | 44509891 | 44510028 |
| ENSE00000906884 | 44511289 | 44511368 |
| ENSE00000906885 | 44512801 | 44512994 |
| ENSE00001390812 | 44497441 | 44500434 |
| ENSE00001878341 | 44521913 | 44522070 |
| ENSE00003614266 | 44513879 | 44514040 |
Expression profiles
Bgee: expression breadth ubiquitous, 304 present calls, max score 98.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 100.1554 / max 1086.0779, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187347 | 99.9815 | 1822 |
| 187345 | 0.0968 | 36 |
| 187346 | 0.0770 | 31 |
Top tissues by expression
304 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.84 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.81 | gold quality |
| pons | UBERON:0000988 | 98.47 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.24 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.23 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.17 | gold quality |
| tendon | UBERON:0000043 | 98.09 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.04 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.02 | gold quality |
| globus pallidus | UBERON:0001875 | 97.94 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.83 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.82 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.81 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.81 | gold quality |
| parietal lobe | UBERON:0001872 | 97.80 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.79 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.75 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.69 | gold quality |
| right testis | UBERON:0004534 | 97.64 | gold quality |
| left testis | UBERON:0004533 | 97.62 | gold quality |
| adult organism | UBERON:0007023 | 97.59 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.55 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.50 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.49 | gold quality |
| placenta | UBERON:0001987 | 97.42 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.42 | gold quality |
| vena cava | UBERON:0004087 | 97.42 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.36 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.33 | gold quality |
| occipital lobe | UBERON:0002021 | 97.32 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 11.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GABPA
miRNA regulators (miRDB)
135 targeting SERINC3, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| 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-548J-3P | 99.94 | 72.61 | 4881 |
Literature-anchored findings (GeneRIF, showing 4)
- TDE1 inhibits apoptosis and stimulates tumorigenesis (PMID:16547497)
- SERINC3 and SERINC5 together restricted HIV-1 replication, and this restriction was evaded by Nef (PMID:26416733)
- In MOLT-3 cells, Nef remained crucial for HIV-1 replication even in the absence of SERINC3 and SERINC5. (PMID:31186327)
- HIV-cell membrane fusion intermediates are restricted by Serincs as revealed by cryo-electron and TIRF microscopy. (PMID:32788212)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | SERINC3 | ENSDARG00000086133 |
| danio_rerio | si:ch73-267c23.10 | ENSDARG00000111669 |
| mus_musculus | Serinc3 | ENSMUSG00000017707 |
| rattus_norvegicus | Serinc3 | ENSRNOG00000009552 |
| drosophila_melanogaster | Serinc | FBGN0028399 |
| caenorhabditis_elegans | WBGENE00011250 | |
| caenorhabditis_elegans | WBGENE00021956 |
Paralogs (4): SERINC1 (ENSG00000111897), SERINC5 (ENSG00000164300), SERINC2 (ENSG00000168528), SERINC4 (ENSG00000184716)
Protein
Protein identifiers
Serine incorporator 3 — Q13530 (reviewed: Q13530)
Alternative names: Tumor differentially expressed protein 1
All UniProt accessions (2): Q13530, Q5H936
UniProt curated annotations — full annotation on UniProt →
Function. Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm. Non-ATP-dependent, non-specific lipid transporter for phosphatidylserine, phosphatidylcholine, and phosphatidylethanolamine. Functions as a scramblase that flips lipids in both directions across the membrane. Phospholipid scrambling results in HIV-1 surface exposure of phosphatidylserine and loss of membrane asymmetry, which leads to changes in HIV-1 Env conformation and loss of infectivity.
Subcellular location. Cell membrane. Golgi apparatus membrane Cytoplasm. Perinuclear region.
Tissue specificity. Ubiquitous. Expression levels were increased fourfold to tenfold in lung tumor tissues compared with normal pulmonary tissues.
Post-translational modifications. N-glycosylated.
Similarity. Belongs to the TDE1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13530-1 | 1 | yes |
| Q13530-2 | 2 |
RefSeq proteins (2): NP_006802, NP_945179 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005016 | TDE1/TMS | Family |
Pfam: PF03348
Catalyzed reactions (Rhea), 3 shown:
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) (RHEA:38895)
UniProt features (22 total): topological domain 9, transmembrane region 8, chain 1, modified residue 1, glycosylation site 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7RU6 | ELECTRON MICROSCOPY | 4.4 |
| 7RUG | ELECTRON MICROSCOPY | 4.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13530-F1 | 77.55 | 0.45 |
Antibody-complex structures (SAbDab): 2 — 7RU6, 7RUG
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): 371
Glycosylation sites (1): 34
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-977347 | Serine metabolism |
| R-HSA-1430728 | Metabolism |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
MSigDB gene sets: 305 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, FREAC2_01, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOLDRATH_ANTIGEN_RESPONSE, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, MARTINEZ_RB1_TARGETS_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (9): L-serine metabolic process (GO:0006563), plasma membrane phospholipid scrambling (GO:0017121), antiviral innate immune response (GO:0140374), positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237), immune system process (GO:0002376), L-serine biosynthetic process (GO:0006564), L-serine transport (GO:0015825), innate immune response (GO:0045087), defense response to virus (GO:0051607)
GO Molecular Function (4): phospholipid scramblase activity (GO:0017128), molecular carrier activity (GO:0140104), protein binding (GO:0005515), L-serine transmembrane transporter activity (GO:0015194)
GO Cellular Component (6): Golgi membrane (GO:0000139), plasma membrane (GO:0005886), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| cytoplasm | 2 |
| L-amino acid metabolic process | 1 |
| proteinogenic amino acid metabolic process | 1 |
| plasma membrane organization | 1 |
| phospholipid translocation | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 1 |
| regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 1 |
| positive regulation of response to endoplasmic reticulum stress | 1 |
| positive regulation of intrinsic apoptotic signaling pathway | 1 |
| biological_process | 1 |
| L-serine metabolic process | 1 |
| serine family amino acid biosynthetic process | 1 |
| L-amino acid biosynthetic process | 1 |
| proteinogenic amino acid biosynthetic process | 1 |
| L-amino acid transport | 1 |
| serine transport | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| defense response | 1 |
| response to virus | 1 |
| plasma membrane phospholipid scrambling | 1 |
| intramembrane lipid carrier activity | 1 |
| molecular_function | 1 |
| L-amino acid transmembrane transporter activity | 1 |
| L-serine transport | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
794 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERINC3 | GRXCR1 | A8MXD5 | 892 |
| SERINC3 | BST2 | Q10589 | 591 |
| SERINC3 | SAMHD1 | Q9Y3Z3 | 578 |
| SERINC3 | RUSC2 | Q8N2Y8 | 572 |
| SERINC3 | TRIM5 | Q9C035 | 554 |
| SERINC3 | GLRX | P35754 | 548 |
| SERINC3 | MARCHF2 | Q9P0N8 | 524 |
| SERINC3 | RUSC1 | Q9BVN2 | 516 |
| SERINC3 | APOBEC3G | Q9HC16 | 511 |
| SERINC3 | AP4E1 | Q9UPM8 | 509 |
| SERINC3 | MX2 | P20592 | 508 |
| SERINC3 | CCR5 | P51681 | 503 |
| SERINC3 | CXCR4 | P30991 | 474 |
| SERINC3 | ATG9A | Q7Z3C6 | 471 |
| SERINC3 | D6RGC4 | D6RGC4 | 470 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRN | SERINC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERINC3 | PEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERINC3 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERINC3 | TRIM28 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SERINC3 | AGTR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERINC3 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERINC3 | RPS15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERINC3 | BMP10 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Trappc8 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY1 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPRIN1 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CAPRIN1 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| EIF4A1 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
| SURF4 | SERINC3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | KDELR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | PHB2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | HACD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | SLC16A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | VDAC3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | KDELR2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | XPO5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SERINC3 | VDAC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (23): SERINC3 (Affinity Capture-MS), XPO5 (Affinity Capture-MS), PHB2 (Affinity Capture-MS), SURF4 (Affinity Capture-MS), VDAC2 (Affinity Capture-MS), KDELR1 (Affinity Capture-MS), PTPLAD1 (Affinity Capture-MS), SLC16A1 (Affinity Capture-MS), KDELR2 (Affinity Capture-MS), SERINC3 (Proximity Label-MS), SERINC3 (Affinity Capture-MS), SERINC3 (Two-hybrid), SERINC3 (Two-hybrid), SERINC3 (Affinity Capture-MS), SERINC3 (Affinity Capture-RNA)
ESM2 similar proteins: A2VDC7, A4FUZ5, A9CAZ8, B9TRX0, O15243, O89013, O95807, P04116, P23289, P23294, P36963, P36965, P47789, P47790, P56557, P60201, P60202, P60203, Q0P442, Q0P467, Q13491, Q13530, Q1E1E0, Q3SYT0, Q3SZL9, Q3T110, Q3ZC23, Q4R6L9, Q561T9, Q566G2, Q5PSV5, Q5R4C3, Q5R533, Q5R603, Q5R6E6, Q5ZJD9, Q712P7, Q7TNK0, Q7Z0Q2, Q803X0
Diamond homologs: A4FUZ5, A6NH21, A7S4N4, A8WCG0, A9UY97, Q12116, Q13530, Q3MHV9, Q4R6L9, Q54UF8, Q58CW5, Q5R419, Q5R533, Q5XK03, Q63175, Q7TNK0, Q803X0, Q86VE9, Q8BHJ6, Q8K0E7, Q96SA4, Q9HDY3, Q9NRX5, Q9QZI8, Q9QZI9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CSNK2A1 | “up-regulates activity” | SERINC3 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1637 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:44500430:CAGGG:C | acceptor_gain | 1.0000 |
| 20:44500435:C:CC | acceptor_gain | 1.0000 |
| 20:44501149:A:AC | donor_gain | 1.0000 |
| 20:44501150:C:CC | donor_gain | 1.0000 |
| 20:44501157:C:CA | donor_gain | 1.0000 |
| 20:44501315:C:CT | acceptor_gain | 1.0000 |
| 20:44501315:C:T | acceptor_gain | 1.0000 |
| 20:44501316:A:T | acceptor_gain | 1.0000 |
| 20:44503863:T:C | donor_gain | 1.0000 |
| 20:44503883:A:AC | donor_gain | 1.0000 |
| 20:44503884:C:CC | donor_gain | 1.0000 |
| 20:44503884:CT:C | donor_gain | 1.0000 |
| 20:44503992:CGAT:C | acceptor_gain | 1.0000 |
| 20:44503994:ATCTG:A | acceptor_loss | 1.0000 |
| 20:44503995:TC:T | acceptor_loss | 1.0000 |
| 20:44503996:C:CC | acceptor_gain | 1.0000 |
| 20:44503996:CTGAA:C | acceptor_loss | 1.0000 |
| 20:44503997:T:G | acceptor_loss | 1.0000 |
| 20:44509887:CTA:C | donor_loss | 1.0000 |
| 20:44509888:TA:T | donor_loss | 1.0000 |
| 20:44509890:C:CA | donor_loss | 1.0000 |
| 20:44509890:CCAG:C | donor_gain | 1.0000 |
| 20:44510024:CCAGA:C | acceptor_gain | 1.0000 |
| 20:44510025:CAGA:C | acceptor_gain | 1.0000 |
| 20:44510025:CAGAC:C | acceptor_gain | 1.0000 |
| 20:44510026:AGA:A | acceptor_gain | 1.0000 |
| 20:44510027:GA:G | acceptor_gain | 1.0000 |
| 20:44510029:C:CC | acceptor_gain | 1.0000 |
| 20:44512797:ATAC:A | donor_loss | 1.0000 |
| 20:44512798:TA:T | donor_loss | 1.0000 |
AlphaMissense
3112 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:44500368:G:C | S450R | 0.996 |
| 20:44500368:G:T | S450R | 0.996 |
| 20:44500370:T:G | S450R | 0.996 |
| 20:44511353:T:A | K137N | 0.996 |
| 20:44511353:T:G | K137N | 0.996 |
| 20:44511364:A:G | W134R | 0.996 |
| 20:44511364:A:T | W134R | 0.996 |
| 20:44500367:A:G | W451R | 0.995 |
| 20:44500367:A:T | W451R | 0.995 |
| 20:44500343:A:G | W459R | 0.994 |
| 20:44500343:A:T | W459R | 0.994 |
| 20:44500302:G:C | F472L | 0.992 |
| 20:44500302:G:T | F472L | 0.992 |
| 20:44500304:A:G | F472L | 0.992 |
| 20:44506846:G:C | S255W | 0.992 |
| 20:44506868:A:G | C248R | 0.992 |
| 20:44506884:A:C | S242R | 0.992 |
| 20:44506884:A:T | S242R | 0.992 |
| 20:44506886:T:G | S242R | 0.992 |
| 20:44500330:G:T | A463D | 0.991 |
| 20:44509991:G:C | F171L | 0.991 |
| 20:44509991:G:T | F171L | 0.991 |
| 20:44509993:A:G | F171L | 0.991 |
| 20:44511354:T:A | K137I | 0.991 |
| 20:44509956:G:T | A183D | 0.990 |
| 20:44504818:G:T | A286D | 0.989 |
| 20:44506878:G:C | N244K | 0.989 |
| 20:44506878:G:T | N244K | 0.989 |
| 20:44509977:A:G | L176P | 0.989 |
| 20:44511355:T:C | K137E | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000174768 (20:44513250 C>A), RS1000245326 (20:44523000 G>A), RS1000255314 (20:44508252 G>A,C), RS1000283629 (20:44517069 T>C), RS1000289603 (20:44504530 C>T), RS1000352638 (20:44501398 C>T), RS1000566066 (20:44512131 G>A), RS1000765317 (20:44503193 A>T), RS1000831035 (20:44501717 C>T), RS1000931522 (20:44496662 C>G,T), RS1001029847 (20:44505704 T>C), RS1001093133 (20:44502882 C>T), RS1001160868 (20:44499716 T>G), RS1001168940 (20:44521159 G>C,T), RS1001249045 (20:44517145 C>G)
Disease associations
OMIM: gene MIM:607165 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000964_28 | Ulcerative colitis | 1.000000e-20 |
| GCST001647_15 | Bipolar disorder | 9.000000e-06 |
| GCST004131_41 | Inflammatory bowel disease | 1.000000e-17 |
| GCST004133_4 | Ulcerative colitis | 4.000000e-30 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression, decreases expression | 3 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| glycidyl methacrylate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| K 7174 | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Asbestos | affects expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Nicotine | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
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): bipolar disorder, inflammatory bowel disease, ulcerative colitis