ENC1
gene geneOn this page
Also known as PIG10ENC-1TP53I10KLHL37
Summary
ENC1 (ectodermal-neural cortex 1, HGNC:3345) is a protein-coding gene on chromosome 5q13.3, encoding Ectoderm-neural cortex protein 1 (O14682). Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells.
This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 8507 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_003633
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3345 |
| Approved symbol | ENC1 |
| Name | ectodermal-neural cortex 1 |
| Location | 5q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PIG10, ENC-1, TP53I10, KLHL37 |
| Ensembl gene | ENSG00000171617 |
| Ensembl biotype | protein_coding |
| OMIM | 605173 |
| Entrez | 8507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 18 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000302351, ENST00000508331, ENST00000509127, ENST00000509284, ENST00000510316, ENST00000618628, ENST00000651128, ENST00000875692, ENST00000875693, ENST00000875694, ENST00000875695, ENST00000875696, ENST00000875697, ENST00000875698, ENST00000875699, ENST00000875700, ENST00000875701, ENST00000875702, ENST00000928979
RefSeq mRNA: 4 — MANE Select: NM_003633
NM_001256574, NM_001256575, NM_001256576, NM_003633
CCDS: CCDS4021, CCDS58958
Canonical transcript exons
ENST00000302351 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001128061 | 74627409 | 74629992 |
| ENSE00001171615 | 74634684 | 74636498 |
| ENSE00003244649 | 74640307 | 74640728 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 99.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.1902 / max 1865.4284, expressed in 1690 samples.
FANTOM5 promoters (19 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62078 | 30.0581 | 1600 |
| 62075 | 11.2163 | 1568 |
| 62077 | 1.6111 | 344 |
| 62076 | 1.0718 | 289 |
| 62079 | 0.4183 | 115 |
| 62081 | 0.3049 | 131 |
| 62082 | 0.2525 | 86 |
| 62087 | 0.2428 | 88 |
| 62074 | 0.1770 | 80 |
| 62073 | 0.1617 | 66 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 10 | UBERON:0013541 | 99.88 | gold quality |
| frontal pole | UBERON:0002795 | 99.86 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.67 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.54 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.41 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.25 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.21 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 99.20 | gold quality |
| ventricular zone | UBERON:0003053 | 99.02 | gold quality |
| parietal lobe | UBERON:0001872 | 98.92 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.76 | gold quality |
| cortical plate | UBERON:0005343 | 98.35 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.32 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.20 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.16 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.13 | gold quality |
| frontal lobe | UBERON:0016525 | 97.92 | gold quality |
| frontal cortex | UBERON:0001870 | 97.91 | gold quality |
| neocortex | UBERON:0001950 | 97.69 | gold quality |
| occipital lobe | UBERON:0002021 | 97.69 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.64 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 97.56 | gold quality |
| adult organism | UBERON:0007023 | 97.52 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.10 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.76 | gold quality |
| embryo | UBERON:0000922 | 96.74 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.74 | gold quality |
| temporal lobe | UBERON:0001871 | 96.64 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.37 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-30 | yes | 2192.51 |
| E-HCAD-56 | yes | 1174.27 |
| E-GEOD-109979 | yes | 1099.45 |
| E-MTAB-8894 | yes | 1082.84 |
| E-HCAD-25 | yes | 913.48 |
| E-HCAD-5 | yes | 807.07 |
| E-MTAB-10018 | yes | 173.85 |
| E-HCAD-35 | yes | 58.25 |
| E-CURD-114 | yes | 10.41 |
| E-ANND-3 | yes | 7.09 |
| E-ENAD-27 | yes | 6.68 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1, NFE2L2, TCF4, TCF7L2
miRNA regulators (miRDB)
143 targeting ENC1, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| 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-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
Literature-anchored findings (GeneRIF, showing 12)
- results suggest that upregulation of ENC-1 contributes to the development of HCL and provides new information on the possible dysregulation of ENC-1 including expression of a novel antisense gene, ENC-1AS (PMID:15459180)
- NRP/B enhances oxidative stress responses in breast cancer cells via the Nrf2 pathway, identifying a novel role of nuclear matrix protein(s) in oxidative stress responses. (PMID:17875699)
- NRP/B mutations impair Nrf2-dependent NQO1 induction in primary brain tumors. (PMID:18981988)
- ENC1 functions as a negative regulator of Nrf2 through suppressing Nrf2 protein translation. (PMID:19424503)
- ENC1 interacts with the phosphorylated p62 to impair autophagic degradation of mutant huntingtin protein aggregates. (PMID:26637326)
- we identified ENC1 and UNC5C as genes with convergent genetic, epigenetic, and transcriptomic evidence supporting a potential role in the dissociation of cognition and neuropathology in an aging population. (PMID:28441426)
- The low expression of ENC1 was associated with favorable prognosis in ovarian cancer patients. And the knockdown of ENC1 can significantly inhibit ovarian cancer cell proliferation, migration, and invasion. (PMID:30125994)
- Ectodermal-neural cortex 1 as a novel biomarker predicts poor prognosis and induces metastasis in breast cancer by promoting Wnt/beta-catenin pathway. (PMID:32618411)
- Ectodermalneural cortex 1 affects the biological function of lung cancer through the MAPK pathway. (PMID:33693958)
- Aberrant super-enhancer-driven oncogene ENC1 promotes the radio-resistance of breast carcinoma. (PMID:34362881)
- The emerging role of ectodermal neural cortex 1 in cancer. (PMID:38177640)
- Comprehensive pan-cancer analysis reveals ENC1 as a promising prognostic biomarker for tumor microenvironment and therapeutic responses. (PMID:39455818)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | enc1 | ENSDARG00000035398 |
| mus_musculus | Enc1 | ENSMUSG00000041773 |
| rattus_norvegicus | Enc1 | ENSRNOG00000016541 |
| drosophila_melanogaster | gprs | FBGN0024232 |
Paralogs (2): KLHL25 (ENSG00000183655), BTBD17 (ENSG00000204347)
Protein
Protein identifiers
Ectoderm-neural cortex protein 1 — O14682 (reviewed: O14682)
Alternative names: Kelch-like protein 37, Nuclear matrix protein NRP/B, p53-induced gene 10 protein
All UniProt accessions (3): D6R9D7, O14682, Q53XS2
UniProt curated annotations — full annotation on UniProt →
Function. Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.
Subunit / interactions. Binds to RB1. Hypophosphorylated RB1 associates with ENC1 during neuronal differentiation, while hyperphosphorylated RB1 associates with ENC1 in undifferentiating cells. Part of a complex that contains CUL3, RBX1 and ENC1. Interacts indirectly with KEAP1.
Subcellular location. Nucleus matrix. Cytoplasm. Cytoskeleton.
Tissue specificity. Detected in fetal brain tissue, moderate expression in fetal heart, lung and kidney. Highly expressed in adult brain, particularly high in the hippocampus and amygdala, and spinal cord. Detectable in adult pancreas. May be down-regulated in neuroblastoma tumors.
Post-translational modifications. Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination.
Induction. By p53/TP53.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14682-1 | 1 | yes |
| O14682-2 | 2 |
RefSeq proteins (4): NP_001243503, NP_001243504, NP_001243505, NP_003624* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR006652 | Kelch_1 | Repeat |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011705 | BACK | Domain |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR017096 | BTB-kelch_protein | Family |
| IPR030562 | ENC1_BTB_POZ_dom | Domain |
| IPR047097 | ENC1_BACK | Domain |
Pfam: PF00651, PF01344, PF07707, PF24681
UniProt features (18 total): sequence conflict 8, repeat 6, chain 1, domain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14682-F1 | 88.22 | 0.62 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 450 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, RODRIGUES_NTN1_TARGETS_DN, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION
GO Biological Process (7): nervous system development (GO:0007399), proteasomal ubiquitin-independent protein catabolic process (GO:0010499), positive regulation of neuron projection development (GO:0010976), protein ubiquitination (GO:0016567), negative regulation of translation (GO:0017148), obsolete proteolysis involved in protein catabolic process (GO:0051603), regulation of primary metabolic process (GO:0080090)
GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), nuclear matrix (GO:0016363), Cul3-RING ubiquitin ligase complex (GO:0031463), neuronal cell body (GO:0043025)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear lumen | 2 |
| system development | 1 |
| proteasomal protein catabolic process | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| protein modification by small protein conjugation | 1 |
| translation | 1 |
| regulation of translation | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of protein metabolic process | 1 |
| regulation of metabolic process | 1 |
| primary metabolic process | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
Protein interactions and networks
STRING
1008 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENC1 | HEXB | P07686 | 912 |
| ENC1 | OGA | O60502 | 650 |
| ENC1 | SNX33 | Q8WV41 | 642 |
| ENC1 | PLAGL2 | Q9UPG8 | 500 |
| ENC1 | GM2A | P17900 | 492 |
| ENC1 | LARS1 | Q9P2J5 | 490 |
| ENC1 | GPR85 | P60893 | 483 |
| ENC1 | SQSTM1 | Q13501 | 476 |
| ENC1 | RAG1 | P15918 | 474 |
| ENC1 | TM9SF4 | Q92544 | 473 |
| ENC1 | SOX15 | P35717 | 456 |
| ENC1 | BRD4 | O60885 | 445 |
| ENC1 | TBR1 | Q16650 | 437 |
| ENC1 | RBBP8NL | Q8NC74 | 424 |
| ENC1 | ZIC1 | Q15915 | 414 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLHL25 | ENC1 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL3 | ENC1 | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL9 | ENC1 | psi-mi:“MI:0914”(association) | 0.640 |
| ENC1 | SQSTM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENC1 | SQSTM1 | psi-mi:“MI:0403”(colocalization) | 0.560 |
| HTT | ENC1 | psi-mi:“MI:0914”(association) | 0.540 |
| HTT | ENC1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| ENC1 | HTT | psi-mi:“MI:0403”(colocalization) | 0.540 |
| ENC1 | PLIN5 | psi-mi:“MI:0914”(association) | 0.530 |
| CAPN2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AB1 | ENC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPG11 | ENC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | KLHL2 | psi-mi:“MI:0914”(association) | 0.350 |
| ENC1 | CUL1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL17 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| BACH2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| ENC1 | IGKC | psi-mi:“MI:0914”(association) | 0.350 |
| ACKR3 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| ALDH3B1 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| BACH1 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CD80 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CXCR3 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (48): ENC1 (Biochemical Activity), SQSTM1 (Affinity Capture-Western), ENC1 (Affinity Capture-Western), KLHL25 (Affinity Capture-MS), ENC1 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), PLIN5 (Affinity Capture-MS), ENC1 (Affinity Capture-RNA), ENC1 (Affinity Capture-Western), ENC1 (Affinity Capture-Western), ENC1 (Reconstituted Complex), ENC1 (Affinity Capture-MS), ENC1 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), PLIN5 (Affinity Capture-MS)
ESM2 similar proteins: A2AAX3, A2AUC9, B3DIV9, D2HEW7, D3ZA50, D3ZZC3, E9QJ30, G3X9X1, O14682, O35709, O60662, Q08BL9, Q0D2A9, Q1LYM6, Q2TBA0, Q2WGJ6, Q3B7M1, Q4KLM4, Q53GT1, Q56A24, Q5EB39, Q5RCQ9, Q5RDY3, Q5RGB8, Q5U504, Q5U575, Q5ZJU2, Q66HD2, Q6DEL7, Q6DFF7, Q6GQU2, Q6NYM1, Q6Q7X9, Q6TFL4, Q6V595, Q8BRG6, Q8BWA5, Q8CA72, Q8IY47, Q8N4N3
Diamond homologs: A0JMG1, A1YEX3, B0WWP2, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, B7U179, D3Z8N4, D4A2K4, E0CZ16, E7F6F9, F1LZF0, F1MBP6, O14682, O22286, O35709, O43791, O81432, O95198, P0DMR5, P0DMR6, P24278, P28575, P34568, P58544, P58545, Q08DK3, Q08DS0, Q0D2A9, Q0IHH9, Q0VCW1, Q16RL8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 35 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 |
|---|---|---|---|
| Neddylation | 6 | 12.4× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
698 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:74637566:TATG:T | donor_gain | 1.0000 |
| 5:74637567:ATGA:A | donor_gain | 1.0000 |
| 5:74629988:GTGAG:G | acceptor_gain | 0.9900 |
| 5:74629989:TGAG:T | acceptor_gain | 0.9900 |
| 5:74636496:CTC:C | acceptor_gain | 0.9900 |
| 5:74637563:A:AC | donor_gain | 0.9900 |
| 5:74637564:C:CC | donor_gain | 0.9900 |
| 5:74637567:A:AC | donor_gain | 0.9900 |
| 5:74640305:A:AC | donor_gain | 0.9900 |
| 5:74640306:C:CC | donor_gain | 0.9900 |
| 5:74640306:CAG:C | donor_gain | 0.9900 |
| 5:74629990:GAG:G | acceptor_gain | 0.9800 |
| 5:74629990:GAGC:G | acceptor_loss | 0.9800 |
| 5:74629991:AGCTG:A | acceptor_loss | 0.9800 |
| 5:74629992:GCTG:G | acceptor_loss | 0.9800 |
| 5:74629993:C:CA | acceptor_loss | 0.9800 |
| 5:74629993:C:CC | acceptor_gain | 0.9800 |
| 5:74629994:T:A | acceptor_loss | 0.9800 |
| 5:74629998:A:AC | acceptor_gain | 0.9800 |
| 5:74636497:TCC:T | acceptor_loss | 0.9800 |
| 5:74636499:CTAA:C | acceptor_loss | 0.9800 |
| 5:74636500:T:A | acceptor_loss | 0.9800 |
| 5:74631701:A:C | donor_gain | 0.9700 |
| 5:74634679:CTTA:C | donor_loss | 0.9700 |
| 5:74634680:TTAC:T | donor_loss | 0.9700 |
| 5:74634681:T:TA | donor_loss | 0.9700 |
| 5:74636494:CACTC:C | acceptor_gain | 0.9700 |
| 5:74636499:C:CC | acceptor_gain | 0.9700 |
| 5:74640306:CA:C | donor_gain | 0.9700 |
| 5:74637482:A:C | donor_gain | 0.9600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000043316 (5:74630556 C>T), RS1000055772 (5:74634442 A>G), RS1000085521 (5:74641939 A>C), RS1000152309 (5:74628949 C>G,T), RS1000163647 (5:74628505 A>G), RS1000394207 (5:74638351 A>G), RS1001090845 (5:74640844 G>C), RS1001224357 (5:74642304 A>G), RS1001365894 (5:74629295 G>A), RS1001463162 (5:74633218 C>G,T), RS1001584565 (5:74629679 T>C), RS1001634103 (5:74640890 A>G), RS1002246542 (5:74640891 G>C,T), RS1002322744 (5:74629301 A>G), RS1002371634 (5:74627834 C>A)
Disease associations
OMIM: gene MIM:605173 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_148 | Night sleep phenotypes | 8.000000e-06 |
| GCST003989_32 | Chin dimples | 5.000000e-12 |
| GCST004025_5 | Systemic juvenile idiopathic arthritis | 5.000000e-07 |
| GCST004291_3 | Residual cognition | 8.000000e-06 |
| GCST006444_15 | Bone mineral density (hip) | 5.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003925 | cognition |
| EFO:0022597 | aging |
| EFO:0007702 | hip bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
107 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects expression, affects cotreatment, decreases expression, increases expression | 5 |
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 5 |
| Cyclosporine | affects cotreatment, decreases expression | 5 |
| bisphenol A | affects expression, decreases expression | 4 |
| trichostatin A | affects methylation, increases expression, affects cotreatment, affects expression | 4 |
| sodium arsenite | affects methylation, decreases expression, increases abundance, increases expression | 4 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 4 |
| Tretinoin | decreases expression, increases expression | 4 |
| Aflatoxin B1 | affects expression, increases expression, increases methylation | 4 |
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| Formaldehyde | decreases expression, increases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| Vorinostat | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Doxorubicin | increases expression | 2 |
| Ethinyl Estradiol | decreases expression, affects expression | 2 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Lipopolysaccharides | affects expression, affects cotreatment, decreases expression, affects reaction | 2 |
| Progesterone | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tamoxifen | increases expression, affects expression, affects cotreatment, decreases expression | 2 |
| Tunicamycin | decreases expression | 2 |
| Raloxifene Hydrochloride | decreases expression, increases expression, affects expression, affects cotreatment | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| 3,19-(2-bromobenzylidene)andrographolide | decreases expression, decreases response to substance | 1 |
| urushiol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | decreases expression, increases abundance, affects cotreatment | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 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): systemic-onset juvenile idiopathic arthritis