JDP2
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Summary
JDP2 (Jun dimerization protein 2, HGNC:17546) is a protein-coding gene on chromosome 14q24.3, encoding Jun dimerization protein 2 (Q8WYK2). Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins.
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. Part of RNA polymerase II transcription regulator complex.
Source: NCBI Gene 122953 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 43 total
- Transcription factor: yes — 36 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001135048
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17546 |
| Approved symbol | JDP2 |
| Name | Jun dimerization protein 2 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140044 |
| Ensembl biotype | protein_coding |
| OMIM | 608657 |
| Entrez | 122953 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 15 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000267569, ENST00000419727, ENST00000435893, ENST00000437176, ENST00000558068, ENST00000559060, ENST00000559773, ENST00000651602, ENST00000879974, ENST00000879975, ENST00000924615, ENST00000924616, ENST00000924617, ENST00000955938, ENST00000955939, ENST00000955940, ENST00000955941
RefSeq mRNA: 4 — MANE Select: NM_001135048
NM_001135047, NM_001135048, NM_001135049, NM_130469
CCDS: CCDS45139, CCDS9842
Canonical transcript exons
ENST00000651602 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003636904 | 75437898 | 75438121 |
| ENSE00003847511 | 75428022 | 75428252 |
| ENSE00003849504 | 75469290 | 75474107 |
| ENSE00003895338 | 75461426 | 75461530 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 97.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.9435 / max 847.8642, expressed in 1734 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140667 | 32.6349 | 1727 |
| 140666 | 0.6612 | 252 |
| 140669 | 0.6411 | 345 |
| 140668 | 0.0063 | 2 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| synovial joint | UBERON:0002217 | 97.52 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.95 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 96.80 | gold quality |
| upper arm skin | UBERON:0004263 | 96.67 | silver quality |
| calcaneal tendon | UBERON:0003701 | 96.32 | gold quality |
| vena cava | UBERON:0004087 | 95.83 | gold quality |
| sural nerve | UBERON:0015488 | 95.62 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.31 | silver quality |
| decidua | UBERON:0002450 | 95.18 | gold quality |
| lower lobe of lung | UBERON:0008949 | 95.15 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.09 | silver quality |
| ileal mucosa | UBERON:0000331 | 94.95 | gold quality |
| right lung | UBERON:0002167 | 94.83 | gold quality |
| saphenous vein | UBERON:0007318 | 94.81 | gold quality |
| monocyte | CL:0000576 | 94.64 | gold quality |
| spleen | UBERON:0002106 | 94.15 | gold quality |
| leukocyte | CL:0000738 | 94.02 | gold quality |
| trachea | UBERON:0003126 | 93.84 | gold quality |
| omental fat pad | UBERON:0010414 | 93.67 | gold quality |
| peritoneum | UBERON:0002358 | 93.64 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.26 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.23 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.05 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.70 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.63 | silver quality |
| tibial nerve | UBERON:0001323 | 92.48 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.47 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.16 | gold quality |
| gall bladder | UBERON:0002110 | 92.15 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 92.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.90 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
36 targets.
| Target | Regulation |
|---|---|
| ACP5 | |
| APEH | |
| ATF2 | |
| ATF3 | Repression |
| CARM1 | |
| CASR | |
| CCNA2 | Unknown |
| CCND1 | Repression |
| CD40 | |
| CDKN2A | Activation |
| CDKN2B | |
| CEBPD | Repression |
| CREBBP | |
| CSF1R | |
| CTSK | Activation |
| DDIT3 | Repression |
| IGBP1 | |
| IGFBP7 | |
| JUN | |
| KAT2B | |
| LGALS1 | |
| MEST | |
| MT1A | |
| NFKB | |
| NOTCH1 | |
| PLXNA2 | |
| PLXNB2 | |
| POLI | |
| POMC | |
| PON2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0655.1 | JDP2 | Fos-related |
| MA0656.1 | JDP2 | Fos-related |
| MA0656.2 | JDP2 | Fos-related |
JASPAR matrix evidence (PMIDs): PMID:9154808
Upstream regulators (CollecTRI, top): NANOG, SPI1, TBX3, TP53
miRNA regulators (miRDB)
83 targeting JDP2, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
Literature-anchored findings (GeneRIF, showing 19)
- c-Jun dimerization protein 2 inhibits cell transformation and has a role as a tumor suppressor gene (PMID:14627710)
- JDP2 is a cellular survival protein whose presence is necessary for normal cellular function (PMID:16026868)
- JDP2 acts as a repressor and could be functionally associated with HDAC3 to inhibit CHOP transcription (PMID:18396163)
- IRF2-BP1 is a JDP2-binding protein enhancing the polyubiquitination of JDP2 and represses ATF2-mediated transcriptional activation from a CRE-containing promoter. (PMID:18671972)
- A progesterone receptor co-activator (JDP2) mediates activity through interaction with residues in the carboxyl-terminal extension of the DNA binding domain. (PMID:19553667)
- 3 SNPs (2 intronic: rs741846 & rs175646; & 1 in the untranslated region: rs8215) & their genotype distribution showed significant association in the Japanese & Korean but not Dutch intracranial aneurysm patients. (PMID:20452405)
- JDP2 expression was downregulated in pancreatic carcinoma & this correlated with metastasis & decreased post-surgery survival. (PMID:20677166)
- The molecular mechanisms that underlie the action of JDP2 in cellular aging and replicative senescence by mediating the dissociation of polycomb repressive complexes from the p16(Ink4a)/Arf locus are discussed. (PMID:20950777)
- JDP2 is crucial to triggering reactivation from latency to lytic replication (PMID:21525011)
- the recruitment of multiple HDAC members to JDP2 and ATF3 is part of their transcription repression mechanism. (PMID:22989952)
- Preeclamptic plasma induces transcription modifications involving the AP-1 transcriptional regulator JDP2 in endothelial cells. (PMID:24120378)
- Results suggest that JDP2 is an integral component of the Nrf2-MafK complex and that it modulates antioxidant and detoxification programs by acting via the ARE. (PMID:24232097)
- In hepatocellular carcinoma, high expression of JDP2 is significantly correlated with smaller tumor size, early stage HCC and better survival. (PMID:28315425)
- These studies establish JDP2 as a novel oncogene in high-risk T cell acute lymphoblastic leukemia. (PMID:29941549)
- JDP2 was downregulated in myelodysplastic syndrome. Its expression was inversely related to disease aggressiveness and AML transformation. JDP2 suppression is a direct result of reduced PU.1. PU.1 and JDP2 expression correlate and are concurrently reduced with the extent of differentiation arrest and aggression/prognosis in MDS/AML. It was upregulated upon azacytidine treatment. (PMID:30721335)
- JDP2 is downregulated in HCC tissues and cells, and overexpressed JDP2 facilitated HCC cell invasion and EMT. (PMID:30877624)
- Down-regulated lncRNA AGAP2-AS1 contributes to pre-eclampsia as a competing endogenous RNA for JDP2 by impairing trophoblastic phenotype. (PMID:32150333)
- JDP2 is directly regulated by ATF4 and modulates TRAIL sensitivity by suppressing the ATF4-DR5 axis. (PMID:33108704)
- Palmitic acid-induced microRNA-143-5p expression promotes the epithelial-mesenchymal transition of retinal pigment epithelium via negatively regulating JDP2. (PMID:37179125)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | jdp2b | ENSDARG00000020133 |
| danio_rerio | jdp2a | ENSDARG00000040137 |
| mus_musculus | Jdp2 | ENSMUSG00000034271 |
| rattus_norvegicus | Jdp2 | ENSRNOG00000063964 |
| drosophila_melanogaster | Atf3 | FBGN0028550 |
Paralogs (8): FOSL2 (ENSG00000075426), BATF3 (ENSG00000123685), FOSB (ENSG00000125740), BATF (ENSG00000156127), ATF3 (ENSG00000162772), BATF2 (ENSG00000168062), FOS (ENSG00000170345), FOSL1 (ENSG00000175592)
Protein
Protein identifiers
Jun dimerization protein 2 — Q8WYK2 (reviewed: Q8WYK2)
All UniProt accessions (2): Q8WYK2, H0YKE4
UniProt curated annotations — full annotation on UniProt →
Function. Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins. Involved in a variety of transcriptional responses associated with AP-1 such as UV-induced apoptosis, cell differentiation, tumorigenesis and antitumogeneris. Can also function as a repressor by recruiting histone deacetylase 3/HDAC3 to the promoter region of JUN. May control transcription via direct regulation of the modification of histones and the assembly of chromatin.
Subunit / interactions. Forms a homodimer or heterodimer with JUN, JUNB, JUND, CEBPG and ATF2 thereby inhibiting transactivation by JUN, ATF2 and CEBPG. Binds multiple DNA elements such as cAMP-response element (CRE) and TPA response element (TRE) either as homodimer or heterodimer. Interacts with IRF2BP1.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylation of Thr-148 by MAPK8 in response to different stress conditions such as, UV irradiation, oxidatives stress and anisomycin treatments. Polyubiquitinated; probably by IRF2BP1.
Similarity. Belongs to the bZIP family. ATF subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WYK2-1 | 1 | yes |
| Q8WYK2-2 | 2 |
RefSeq proteins (4): NP_001128519, NP_001128520, NP_001128521, NP_569736 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000837 | AP-1 | Family |
| IPR004827 | bZIP | Domain |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF00170
UniProt features (10 total): region of interest 4, chain 1, domain 1, modified residue 1, cross-link 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WYK2-F1 | 76.36 | 0.42 |
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 (2): 148, 65
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, WWTAAGGC_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, NKX25_02, SHEPARD_CRASH_AND_BURN_MUTANT_UP, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, LHX3_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr14q24, FOSTER_TOLERANT_MACROPHAGE_UP, NF1_Q6_01
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), fat cell differentiation (GO:0045444), negative regulation of fat cell differentiation (GO:0045599), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (14): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), chromatin binding (GO:0003682), cAMP response element binding (GO:0035497), protein homodimerization activity (GO:0042803), histone deacetylase binding (GO:0042826), leucine zipper domain binding (GO:0043522), protein heterodimerization activity (GO:0046982), histone chaperone activity (GO:0140713), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), RNA polymerase II transcription regulator complex (GO:0090575)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| binding | 2 |
| protein dimerization activity | 2 |
| negative regulation of DNA-templated transcription | 1 |
| chromatin organization | 1 |
| cell differentiation | 1 |
| fat cell differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of fat cell differentiation | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | 1 |
| identical protein binding | 1 |
| enzyme binding | 1 |
| LRR domain binding | 1 |
| histone binding | 1 |
| protein carrier activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1238 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| JDP2 | JUND | P17535 | 932 |
| JDP2 | ARL4C | P56559 | 905 |
| JDP2 | JUN | P05412 | 891 |
| JDP2 | JUNB | P17275 | 849 |
| JDP2 | CEBPG | P53567 | 768 |
| JDP2 | BATF | Q16520 | 747 |
| JDP2 | ATF3 | P18847 | 698 |
| JDP2 | FOS | P01100 | 697 |
| JDP2 | CTSK | P43235 | 657 |
| JDP2 | HDAC3 | O15379 | 623 |
| JDP2 | FOSL2 | P15408 | 607 |
| JDP2 | MAF | O75444 | 606 |
| JDP2 | EP300 | Q09472 | 528 |
| JDP2 | DDIT3 | P35638 | 527 |
| JDP2 | ATF7 | P17544 | 516 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JUN | ATF2 | psi-mi:“MI:0914”(association) | 0.950 |
| JDP2 | JUN | psi-mi:“MI:0914”(association) | 0.690 |
| JUN | NFATC1 | psi-mi:“MI:0914”(association) | 0.610 |
| Atf2 | JDP2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| Atf2 | JDP2 | psi-mi:“MI:0915”(physical association) | 0.590 |
| JDP2 | IRF2BP1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| ATF4 | JDP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB5 | JDP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT3 | JDP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATF2 | JDP2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| JUNB | JDP2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| JDP2 | JUNB | psi-mi:“MI:0914”(association) | 0.550 |
| JUN | NKRF | psi-mi:“MI:0914”(association) | 0.460 |
| JDP2 | PGR | psi-mi:“MI:0915”(physical association) | 0.400 |
| JDP2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| GTF2H1 | JDP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JDP2 | RPLP0 | psi-mi:“MI:0914”(association) | 0.350 |
| JDP2 | DDIT3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| JDP2 | ATF4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| JDP2 | CREB5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): JDP2 (Affinity Capture-MS), JDP2 (Affinity Capture-RNA), JDP2 (Affinity Capture-MS), JDP2 (Affinity Capture-MS), JDP2 (Biochemical Activity), JDP2 (Two-hybrid), CREB5 (Two-hybrid), DDIT3 (Two-hybrid), TP53 (Reconstituted Complex), JDP2 (Affinity Capture-RNA), IRF2BP1 (Affinity Capture-Western), ATF7 (Affinity Capture-Western), JUND (Affinity Capture-Western), JUN (Affinity Capture-Western), JDP2 (Affinity Capture-Western)
ESM2 similar proteins: A4IGK3, B7ZAP0, O08609, O54941, O55047, O60519, P18847, P26801, P28574, P29596, P37285, P52161, P52162, P52164, P60762, P61244, P61245, P97875, Q07016, Q07866, Q08CW1, Q08DJ0, Q0VCP9, Q0VD32, Q13330, Q28772, Q2KII1, Q32KT0, Q32M00, Q3T0B9, Q56A18, Q5BJU6, Q5R581, Q5ZIL4, Q60765, Q62599, Q642H2, Q6PH81, Q78E65, Q7TMY4
Diamond homologs: A1L2X1, D4A7E1, E1BD44, F1QW76, F7EMX9, O02761, O35284, O77628, O88479, O97930, P01100, P01101, P01102, P11939, P12841, P18847, P23050, P29176, P29596, P53450, Q16520, Q2KII1, Q56TN0, Q56TT7, Q60765, Q6DGM8, Q8HZP6, Q8N1L9, Q8WYK2, Q91496, Q9Z2Q8, A8MPH9, B3MTI9, B3P5D2, B4G652, B4HZE8, B4JYN3, B4K617, B4M5T7, B4PPK2
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| JDP2 | “down-regulates activity” | ATF2 | binding |
| JDP2 | “down-regulates activity” | JUN | binding |
| MAPK14 | unknown | JDP2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1075 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:75438117:GTGAG:G | donor_gain | 1.0000 |
| 14:75461422:ACAG:A | acceptor_loss | 1.0000 |
| 14:75461424:A:AG | acceptor_gain | 1.0000 |
| 14:75461424:AGCT:A | acceptor_loss | 1.0000 |
| 14:75461425:G:GA | acceptor_gain | 1.0000 |
| 14:75461425:GCT:G | acceptor_gain | 1.0000 |
| 14:75461425:GCTA:G | acceptor_gain | 1.0000 |
| 14:75461527:GCGG:G | donor_gain | 1.0000 |
| 14:75469285:TACA:T | acceptor_loss | 1.0000 |
| 14:75469287:CA:C | acceptor_loss | 1.0000 |
| 14:75469288:A:AG | acceptor_gain | 1.0000 |
| 14:75469288:AG:A | acceptor_gain | 1.0000 |
| 14:75469289:G:GA | acceptor_loss | 1.0000 |
| 14:75469289:G:GG | acceptor_gain | 1.0000 |
| 14:75469289:GG:G | acceptor_gain | 1.0000 |
| 14:75469289:GGA:G | acceptor_gain | 1.0000 |
| 14:75437896:A:AG | acceptor_gain | 0.9900 |
| 14:75437896:AGGCT:A | acceptor_gain | 0.9900 |
| 14:75437897:G:GG | acceptor_gain | 0.9900 |
| 14:75437897:GGCT:G | acceptor_gain | 0.9900 |
| 14:75437897:GGCTG:G | acceptor_gain | 0.9900 |
| 14:75438120:AGGT:A | donor_loss | 0.9900 |
| 14:75438121:GGTGA:G | donor_loss | 0.9900 |
| 14:75438122:G:A | donor_loss | 0.9900 |
| 14:75461422:A:AG | acceptor_gain | 0.9900 |
| 14:75461423:C:G | acceptor_gain | 0.9900 |
| 14:75461425:GC:G | acceptor_gain | 0.9900 |
| 14:75461529:GG:G | donor_gain | 0.9900 |
| 14:75461530:GG:G | donor_gain | 0.9900 |
| 14:75461531:G:GG | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000083125 (14:75469972 C>T), RS1000120623 (14:75439871 G>A,T), RS1000162992 (14:75427889 C>G,T), RS1000202338 (14:75447681 T>C), RS1000235926 (14:75453217 T>C,G), RS1000300997 (14:75467238 T>C), RS1000311588 (14:75433526 T>A,G), RS1000341896 (14:75433787 C>T), RS1000344294 (14:75442052 G>C), RS1000421513 (14:75439565 T>C), RS1000461192 (14:75455662 C>T), RS1000463197 (14:75470013 C>T), RS1000554058 (14:75455246 C>G), RS1000560494 (14:75452015 C>A), RS1000651320 (14:75452209 T>G)
Disease associations
OMIM: gene MIM:608657 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001588_6 | Periodontal microbiota | 9.000000e-07 |
| GCST001762_510 | Obesity-related traits | 7.000000e-06 |
| GCST005038_87 | Allergic disease (asthma, hay fever or eczema) | 9.000000e-09 |
| GCST005531_81 | Multiple sclerosis | 2.000000e-07 |
| GCST008870_13 | Keratinocyte cancer (MTAG) | 2.000000e-08 |
| GCST008871_45 | Basal cell carcinoma | 5.000000e-10 |
| GCST90000025_544 | Appendicular lean mass | 6.000000e-16 |
| GCST90013410_52 | Basal cell carcinoma | 4.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010176 | keratinocyte carcinoma |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | decreases methylation, affects cotreatment, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| bisphenol S | decreases methylation, affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| resorcinol | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases 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): basal cell carcinoma, periodontitis