TRAF3IP3
geneOn this page
Also known as T3JAM
Summary
TRAF3IP3 (TRAF3 interacting protein 3, HGNC:30766) is a protein-coding gene on chromosome 1q32.2, encoding TRAF3-interacting JNK-activating modulator (Q9Y228). Adapter protein that plays essential roles in both innate and adaptive immunity.
The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 80342 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 67 total
- MANE Select transcript:
NM_025228
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30766 |
| Approved symbol | TRAF3IP3 |
| Name | TRAF3 interacting protein 3 |
| Location | 1q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | T3JAM |
| Ensembl gene | ENSG00000009790 |
| Ensembl biotype | protein_coding |
| OMIM | 608255 |
| Entrez | 80342 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 14 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000367023, ENST00000367024, ENST00000367025, ENST00000367026, ENST00000400959, ENST00000460314, ENST00000467830, ENST00000468672, ENST00000471368, ENST00000474496, ENST00000476050, ENST00000477431, ENST00000478359, ENST00000479796, ENST00000487271, ENST00000488702, ENST00000884880, ENST00000884881, ENST00000884882, ENST00000884883, ENST00000884884, ENST00000957589
RefSeq mRNA: 4 — MANE Select: NM_025228
NM_001287754, NM_001320143, NM_001320144, NM_025228
CCDS: CCDS1490, CCDS73023, CCDS81422
Canonical transcript exons
ENST00000367025 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000792126 | 209780470 | 209780606 |
| ENSE00001248122 | 209779315 | 209779374 |
| ENSE00001443283 | 209759034 | 209759134 |
| ENSE00001900931 | 209756053 | 209756309 |
| ENSE00001913729 | 209782056 | 209782310 |
| ENSE00002213174 | 209762813 | 209762870 |
| ENSE00002221582 | 209775599 | 209775736 |
| ENSE00002262885 | 209763363 | 209763392 |
| ENSE00002267091 | 209762515 | 209762662 |
| ENSE00002284279 | 209763492 | 209763587 |
| ENSE00002302242 | 209759982 | 209760384 |
| ENSE00002320911 | 209763068 | 209763092 |
| ENSE00003479474 | 209777352 | 209777487 |
| ENSE00003500170 | 209781345 | 209781458 |
| ENSE00003516467 | 209772948 | 209773019 |
| ENSE00003679353 | 209778111 | 209778173 |
| ENSE00003694681 | 209775349 | 209775489 |
Expression profiles
Bgee: expression breadth ubiquitous, 205 present calls, max score 99.12.
FANTOM5 (CAGE): breadth broad, TPM avg 18.0491 / max 706.3126, expressed in 490 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8356 | 4.4034 | 355 |
| 8366 | 3.7747 | 316 |
| 8355 | 3.4173 | 314 |
| 8367 | 2.7284 | 218 |
| 8357 | 2.5598 | 260 |
| 8365 | 0.5581 | 209 |
| 8368 | 0.3317 | 98 |
| 8363 | 0.1526 | 51 |
| 8364 | 0.0831 | 46 |
| 8354 | 0.0400 | 19 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.12 | gold quality |
| leukocyte | CL:0000738 | 97.98 | gold quality |
| monocyte | CL:0000576 | 97.94 | gold quality |
| mononuclear cell | CL:0000842 | 97.91 | gold quality |
| blood | UBERON:0000178 | 97.40 | gold quality |
| spleen | UBERON:0002106 | 96.53 | gold quality |
| lymph node | UBERON:0000029 | 96.39 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.23 | gold quality |
| bone marrow cell | CL:0002092 | 94.24 | gold quality |
| thymus | UBERON:0002370 | 94.03 | gold quality |
| bone marrow | UBERON:0002371 | 92.79 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.33 | gold quality |
| caecum | UBERON:0001153 | 89.99 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.96 | gold quality |
| tonsil | UBERON:0002372 | 88.87 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 88.85 | gold quality |
| gall bladder | UBERON:0002110 | 86.19 | gold quality |
| rectum | UBERON:0001052 | 86.16 | gold quality |
| small intestine | UBERON:0002108 | 86.14 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.37 | gold quality |
| superficial temporal artery | UBERON:0001614 | 82.71 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 82.68 | gold quality |
| right lung | UBERON:0002167 | 82.48 | gold quality |
| buccal mucosa cell | CL:0002336 | 82.46 | gold quality |
| amniotic fluid | UBERON:0000173 | 82.07 | gold quality |
| upper lobe of lung | UBERON:0008948 | 81.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.56 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.51 | gold quality |
| right coronary artery | UBERON:0001625 | 79.06 | gold quality |
| body of stomach | UBERON:0001161 | 77.13 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 74.77 |
| E-CURD-122 | yes | 37.32 |
| E-MTAB-10287 | yes | 31.34 |
| E-MTAB-8410 | yes | 21.86 |
| E-HCAD-10 | yes | 21.47 |
| E-HCAD-1 | yes | 18.13 |
| E-CURD-112 | yes | 7.93 |
| E-GEOD-130148 | yes | 3.69 |
| E-MTAB-7606 | no | 1224.07 |
| E-MTAB-6379 | no | 1046.64 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting TRAF3IP3, 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-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-4777-3P | 99.15 | 68.92 | 626 |
| HSA-MIR-421 | 98.90 | 67.04 | 1883 |
| HSA-MIR-3144-3P | 98.15 | 67.34 | 677 |
| HSA-MIR-4736 | 97.96 | 65.89 | 1287 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-875-5P | 96.74 | 66.48 | 579 |
| HSA-MIR-3059-3P | 96.71 | 67.08 | 606 |
Literature-anchored findings (GeneRIF, showing 8)
- This paper provides an alignment of the mouse and human proteins. (PMID:14572659)
- TRAF3IP3 stimulated cell growth by modulating the c-Jun N-terminal kinase (JNK) pathway (PMID:17868742)
- Tumor microarray analysis on 23 primary melanoma and nine positive lymph nodes revealed that 70% of human primary melanoma and 66% of lymph node metastases were positive for TRAF3IP3. Immunohistochemistry analysis of the tumors revealed that TRAF3IP3-shRNA tumors had increased apoptosis and reduced microvascular density. (PMID:29553967)
- Findings uncover TRAF3IP3 as an important regulator for RIG-I-MAVS signaling, which bridges MAVS and TRAF3 for an effective antiviral innate immune response. (PMID:31390091)
- Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2. (PMID:33137956)
- High TRAF3IP3 Level Predicts Poor Prognosis of Patients with Gliomas. (PMID:33444836)
- Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia. (PMID:33503336)
- The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves’ disease in the Chinese population. (PMID:36397361)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Traf3ip3 | ENSMUSG00000037318 |
| rattus_norvegicus | Traf3ip3 | ENSRNOG00000005565 |
| drosophila_melanogaster | Slmap | FBGN0040011 |
| caenorhabditis_elegans | WBGENE00019766 |
Paralogs (2): CCDC136 (ENSG00000128596), SLMAP (ENSG00000163681)
Protein
Protein identifiers
TRAF3-interacting JNK-activating modulator — Q9Y228 (reviewed: Q9Y228)
Alternative names: TRAF3-interacting protein 3
All UniProt accessions (7): Q9Y228, B1AJU2, C9J0C0, C9JBA0, C9JXB3, E2QRE5, H0YF09
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein that plays essential roles in both innate and adaptive immunity. Plays a crucial role in the regulation of thymocyte development. Mechanistically, mediates TCR-stimulated activation through recruiting MAP2K1/MEK1 to the Golgi and, thereby, facilitating the interaction of MAP2K1/MEK1 with its activator BRAF. Also plays an essential role in regulatory T-cell stability and function by recruiting the serine-threonine phosphatase catalytic subunit (PPP2CA) to the lysosome, thereby facilitating the interaction of PP2Ac with the mTORC1 component RPTOR and restricting glycolytic metabolism. Positively regulates TLR4 signaling activity in macrophage-mediated inflammation by acting as a molecular clamp to facilitate LPS-induced translocation of TLR4 to lipid rafts. In response to viral infection, facilitates the recruitment of TRAF3 to MAVS within mitochondria leading to IRF3 activation and interferon production. However, participates in the maintenance of immune homeostasis and the prevention of overzealous innate immunity by promoting ‘Lys-48’-dependent ubiquitination of TBK1.
Subunit / interactions. Interacts (via its coiled-coil domain) with TRAF3 (via isoleucine zipper). Interacts with MAP2K1. Interacts with PPP2CA; this interaction targets PPP2CA to the lysosomes. Interacts with TLR4. Interacts with MAVS. Interacts with TBK1.
Subcellular location. Cell membrane. Golgi apparatus membrane. Lysosome membrane. Mitochondrion outer membrane.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y228-1 | 1 | yes |
| Q9Y228-2 | 2 | |
| Q9Y228-3 | 3 |
RefSeq proteins (4): NP_001274683, NP_001307072, NP_001307073, NP_079504* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR051176 | Cent_Immune-Sig_Mod | Family |
UniProt features (13 total): splice variant 3, topological domain 2, sequence variant 2, region of interest 2, coiled-coil region 2, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y228-F1 | 74.77 | 0.43 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 215 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, MULLIGHAN_NPM1_SIGNATURE_3_UP, GNF2_CASP8, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOBP_RESPONSE_TO_PEPTIDE, GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_RESPONSE_TO_INTERFERON_BETA, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_POSITIVE_REGULATION_OF_INTERFERON_BETA_PRODUCTION, SU_THYMUS
GO Biological Process (5): cytoplasmic pattern recognition receptor signaling pathway (GO:0002753), positive regulation of type I interferon production (GO:0032481), positive regulation of interferon-beta production (GO:0032728), cellular response to interferon-beta (GO:0035458), antiviral innate immune response (GO:0140374)
GO Molecular Function (4): protein-macromolecule adaptor activity (GO:0030674), zf-TRAF domain binding (GO:0044198), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)
GO Cellular Component (10): Golgi membrane (GO:0000139), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), mitochondrial membrane (GO:0031966), lysosome (GO:0005764), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of cytokine production | 2 |
| binding | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| organelle membrane | 2 |
| pattern recognition receptor signaling pathway | 1 |
| intracellular receptor signaling pathway | 1 |
| regulation of type I interferon production | 1 |
| type I interferon production | 1 |
| positive regulation of type I interferon production | 1 |
| interferon-beta production | 1 |
| regulation of interferon-beta production | 1 |
| response to interferon-beta | 1 |
| cellular response to cytokine stimulus | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| protein domain specific binding | 1 |
| molecular_function | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRAF3IP3 | TRAF3 | Q13114 | 974 |
| TRAF3IP3 | FGFR1OP2 | Q9NVK5 | 572 |
| TRAF3IP3 | OTUD5 | Q96G74 | 549 |
| TRAF3IP3 | C1orf74 | Q96LT6 | 544 |
| TRAF3IP3 | TBK1 | Q9UHD2 | 497 |
| TRAF3IP3 | IKBKE | Q14164 | 496 |
| TRAF3IP3 | RDX | P35241 | 469 |
| TRAF3IP3 | ATG16L1 | Q676U5 | 458 |
| TRAF3IP3 | TRAF1 | Q13077 | 450 |
| TRAF3IP3 | LTBR | P36941 | 445 |
| TRAF3IP3 | CRNKL1 | Q9BZJ0 | 430 |
| TRAF3IP3 | MSN | P26038 | 429 |
| TRAF3IP3 | SLC7A6 | Q92536 | 426 |
| TRAF3IP3 | TRIL | Q7L0X0 | 422 |
| TRAF3IP3 | FAM170A | A1A519 | 416 |
IntAct
198 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EMD | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.810 |
| TRAF3IP3 | EMD | psi-mi:“MI:0915”(physical association) | 0.810 |
| KASH5 | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| FATE1 | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRAF3IP3 | NDEL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NDEL1 | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRAF3IP3 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRAF3IP3 | SP100 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TFIP11 | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SP100 | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRAF3IP3 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRAF3IP3 | STRN | psi-mi:“MI:0915”(physical association) | 0.620 |
| STRIP1 | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| TRAF3IP3 | STRN3 | psi-mi:“MI:0915”(physical association) | 0.620 |
BioGRID (128): TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), TRAF3IP3 (Two-hybrid), NDEL1 (Two-hybrid), FATE1 (Two-hybrid), CCDC155 (Two-hybrid), TRAF3IP3 (Two-hybrid), FGFR1OP2 (Affinity Capture-MS), SIKE1 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS)
ESM2 similar proteins: A1L443, A2IDD5, A4IFI1, A6NJZ7, A6NNL0, A6NNM3, A8MT33, B1AL46, D3Z5T1, O95153, Q2M3G4, Q2T9R2, Q3TVI4, Q3TYX8, Q49AM3, Q4KLY2, Q569K6, Q5JTD0, Q5JXC2, Q5SSQ6, Q5SW24, Q5VT03, Q5VZR2, Q6ZNE9, Q7TN08, Q7TNF8, Q7Z591, Q80VJ8, Q810H6, Q811T9, Q86SX3, Q8C963, Q8CB62, Q8CII8, Q8IVF1, Q8IXR5, Q8N0S2, Q8N137, Q8N205, Q8N6L0
Diamond homologs: A6ZRW7, O74388, P0C219, P38823, P53924, Q03944, Q06001, Q10322, Q14BN4, Q28623, Q3URD3, Q8C0G2, Q9Y228, Q3TVA9
SIGNOR signaling
0 interactions.
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 | 57 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2517 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:209756307:G:GT | donor_gain | 1.0000 |
| 1:209759033:GCA:G | acceptor_gain | 1.0000 |
| 1:209759969:T:A | acceptor_gain | 1.0000 |
| 1:209760240:G:GT | donor_gain | 1.0000 |
| 1:209763393:G:GG | donor_gain | 1.0000 |
| 1:209775336:A:AG | acceptor_gain | 1.0000 |
| 1:209775337:T:G | acceptor_gain | 1.0000 |
| 1:209775347:A:AG | acceptor_gain | 1.0000 |
| 1:209775348:G:GG | acceptor_gain | 1.0000 |
| 1:209775348:GAA:G | acceptor_gain | 1.0000 |
| 1:209775488:AGGT:A | donor_loss | 1.0000 |
| 1:209775489:GGTA:G | donor_loss | 1.0000 |
| 1:209775490:GTATG:G | donor_loss | 1.0000 |
| 1:209775491:T:G | donor_loss | 1.0000 |
| 1:209775594:CTCA:C | acceptor_loss | 1.0000 |
| 1:209775595:TCA:T | acceptor_loss | 1.0000 |
| 1:209775596:CAG:C | acceptor_loss | 1.0000 |
| 1:209775597:A:AG | acceptor_gain | 1.0000 |
| 1:209775597:AGC:A | acceptor_gain | 1.0000 |
| 1:209775598:G:GG | acceptor_gain | 1.0000 |
| 1:209775598:G:GT | acceptor_loss | 1.0000 |
| 1:209775598:GC:G | acceptor_gain | 1.0000 |
| 1:209775598:GCG:G | acceptor_gain | 1.0000 |
| 1:209775598:GCGAT:G | acceptor_gain | 1.0000 |
| 1:209775736:GGTA:G | donor_loss | 1.0000 |
| 1:209777347:TACA:T | acceptor_loss | 1.0000 |
| 1:209777348:ACAG:A | acceptor_gain | 1.0000 |
| 1:209777350:AG:A | acceptor_gain | 1.0000 |
| 1:209777351:GG:G | acceptor_gain | 1.0000 |
| 1:209777351:GGGA:G | acceptor_gain | 1.0000 |
AlphaMissense
3606 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:209763388:T:C | L201P | 0.996 |
| 1:209763495:G:C | A204P | 0.995 |
| 1:209775421:G:C | A283P | 0.994 |
| 1:209763376:T:C | L197P | 0.993 |
| 1:209763517:T:C | L211P | 0.992 |
| 1:209763547:T:C | L221P | 0.991 |
| 1:209763506:G:C | R207S | 0.990 |
| 1:209763506:G:T | R207S | 0.990 |
| 1:209763538:T:C | L218P | 0.990 |
| 1:209763499:T:C | L205P | 0.989 |
| 1:209763526:A:T | K214I | 0.989 |
| 1:209773003:T:C | L253P | 0.988 |
| 1:209775434:T:C | L287P | 0.988 |
| 1:209763559:T:C | L225P | 0.987 |
| 1:209772982:T:C | L246P | 0.986 |
| 1:209772970:T:C | L242P | 0.985 |
| 1:209775476:T:C | L301P | 0.985 |
| 1:209763508:A:T | E208V | 0.984 |
| 1:209763567:G:C | A228P | 0.982 |
| 1:209775614:G:C | A311P | 0.981 |
| 1:209763388:T:A | L201H | 0.979 |
| 1:209775711:T:C | L343P | 0.979 |
| 1:209763378:T:C | S198P | 0.978 |
| 1:209763508:A:C | E208A | 0.977 |
| 1:209775720:T:C | L346P | 0.977 |
| 1:209763376:T:A | L197H | 0.976 |
| 1:209773000:A:C | Q252P | 0.976 |
| 1:209775430:T:C | S286P | 0.976 |
| 1:209775732:T:C | L350P | 0.976 |
| 1:209763527:A:C | K214N | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000231099 (1:209758833 C>T), RS1000330841 (1:209755875 A>G), RS1000846417 (1:209772021 G>A,C), RS1000940950 (1:209770491 G>A), RS1000990256 (1:209757062 A>G), RS1001172374 (1:209766470 T>C), RS1001192790 (1:209778792 T>C), RS1001317061 (1:209776958 G>A), RS1001478446 (1:209759520 G>A), RS1001598924 (1:209778258 G>A), RS1001637753 (1:209770533 G>A,C), RS1001687214 (1:209766247 G>A), RS1001773527 (1:209771332 T>C), RS1001866391 (1:209779629 A>C), RS1001944322 (1:209758379 A>T)
Disease associations
OMIM: gene MIM:608255 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_10 | Red blood cell count | 6.000000e-10 |
| GCST004602_25 | Mean corpuscular volume | 9.000000e-10 |
| GCST004630_19 | Mean corpuscular hemoglobin | 5.000000e-09 |
| GCST004866_6 | Alopecia areata | 2.000000e-06 |
| GCST006946_20 | Worry too long after an embarrassing experience | 4.000000e-08 |
| GCST011088_2 | Orofacial clefts | 5.000000e-09 |
| GCST90002390_336 | Mean corpuscular hemoglobin | 2.000000e-18 |
| GCST90002392_250 | Mean corpuscular volume | 6.000000e-23 |
| GCST90002396_161 | Mean reticulocyte volume | 3.000000e-17 |
| GCST90002397_744 | Mean spheric corpuscular volume | 3.000000e-16 |
| GCST90002403_60 | Red blood cell count | 8.000000e-18 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0009589 | worry measurement |
| EFO:0010701 | mean reticulocyte volume |
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 |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, decreases expression | 3 |
| sodium arsenite | increases expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Isotretinoin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | decreases expression | 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): alopecia areata