ELAPOR1
gene geneOn this page
Also known as maba1EIG121
Summary
ELAPOR1 (endosome-lysosome associated apoptosis and autophagy regulator 1, HGNC:29618) is a protein-coding gene on chromosome 1p13.3, encoding Endosome/lysosome-associated apoptosis and autophagy regulator 1 (Q6UXG2). May protect cells from cell death by inducing cytosolic vacuolization and up-regulating the autophagy pathway.
Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 57535 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 186 total
- MANE Select transcript:
NM_020775
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29618 |
| Approved symbol | ELAPOR1 |
| Name | endosome-lysosome associated apoptosis and autophagy regulator 1 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | maba1, EIG121 |
| Ensembl gene | ENSG00000116299 |
| Ensembl biotype | protein_coding |
| OMIM | 611298 |
| Entrez | 57535 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000369936, ENST00000369938, ENST00000369939, ENST00000457623, ENST00000464345, ENST00000490758, ENST00000526264, ENST00000527501, ENST00000527996, ENST00000529753, ENST00000531664, ENST00000533147, ENST00000533374, ENST00000534476, ENST00000899218, ENST00000899219, ENST00000899220, ENST00000899221, ENST00000899222
RefSeq mRNA: 4 — MANE Select: NM_020775
NM_001267048, NM_001284352, NM_001284353, NM_020775
CCDS: CCDS58015, CCDS794
Canonical transcript exons
ENST00000369939 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001451285 | 109202944 | 109206781 |
| ENSE00002163328 | 109114115 | 109114336 |
| ENSE00003470599 | 109197979 | 109198075 |
| ENSE00003484362 | 109172488 | 109172568 |
| ENSE00003484805 | 109194421 | 109194594 |
| ENSE00003488054 | 109191726 | 109191863 |
| ENSE00003489143 | 109189592 | 109189682 |
| ENSE00003491577 | 109185045 | 109185133 |
| ENSE00003505690 | 109191366 | 109191471 |
| ENSE00003558615 | 109198573 | 109198674 |
| ENSE00003581990 | 109188177 | 109188354 |
| ENSE00003585024 | 109173474 | 109173579 |
| ENSE00003608796 | 109192611 | 109192874 |
| ENSE00003621108 | 109200735 | 109200900 |
| ENSE00003626838 | 109199854 | 109199980 |
| ENSE00003630586 | 109200059 | 109200237 |
| ENSE00003677105 | 109197474 | 109197654 |
| ENSE00003687030 | 109173688 | 109173837 |
| ENSE00003688933 | 109189066 | 109189194 |
| ENSE00003790100 | 109161894 | 109162014 |
| ENSE00003790131 | 109171866 | 109172013 |
| ENSE00003791525 | 109164499 | 109164691 |
Expression profiles
Bgee: expression breadth ubiquitous, 209 present calls, max score 99.77.
FANTOM5 (CAGE): breadth broad, TPM avg 13.6545 / max 1392.7037, expressed in 669 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4388 | 12.2798 | 420 |
| 4384 | 0.4217 | 178 |
| 4390 | 0.4121 | 229 |
| 4387 | 0.3770 | 169 |
| 4386 | 0.1066 | 42 |
| 4385 | 0.0574 | 36 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.77 | gold quality |
| body of pancreas | UBERON:0001150 | 98.09 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.27 | gold quality |
| trachea | UBERON:0003126 | 97.14 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.96 | gold quality |
| pylorus | UBERON:0001166 | 96.76 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.46 | gold quality |
| pancreas | UBERON:0001264 | 96.46 | gold quality |
| pituitary gland | UBERON:0000007 | 95.85 | gold quality |
| rectum | UBERON:0001052 | 95.27 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.91 | gold quality |
| right uterine tube | UBERON:0001302 | 94.70 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.67 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 94.37 | gold quality |
| mammary duct | UBERON:0001765 | 93.86 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 93.21 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.97 | gold quality |
| bronchus | UBERON:0002185 | 92.96 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.91 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 92.80 | gold quality |
| duodenum | UBERON:0002114 | 92.58 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.66 | gold quality |
| prostate gland | UBERON:0002367 | 91.34 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.25 | gold quality |
| endometrium | UBERON:0001295 | 90.67 | gold quality |
| cardia of stomach | UBERON:0001162 | 90.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.34 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.05 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.28 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.18 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 279.14 |
| E-MTAB-8060 | yes | 107.59 |
| E-MTAB-5061 | yes | 30.75 |
| E-GEOD-81547 | yes | 27.00 |
| E-GEOD-125970 | yes | 14.08 |
| E-HCAD-13 | yes | 7.38 |
| E-GEOD-70580 | no | 940.90 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
108 targeting ELAPOR1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
Literature-anchored findings (GeneRIF, showing 10)
- Down-regulation of KIAA1324 protein is associated with endometrial cancer (PMID:16322283)
- EIG121 may protect cells from cell death by upregulating the autophagy pathway. (PMID:21072319)
- High expression of ERalpha and the estrogen-induced gene EIG121 predicts shorter overall survival in patients with high-grade serous ovarian carcinoma. (PMID:21102415)
- A tumor suppressive role of KIAA1324 via inhibition of GRP78 oncoprotein activities in gastric cancer (PMID:26045166)
- The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here (PMID:27230222)
- it was found that EIG121 exerted dual functions in the regulation of autophagy and stemness not only in normal JEC cells but also JEC obtained CSCs. These findings could be useful for developing targeted therapies for endometrial carcinoma (PMID:28656197)
- Altered Expression of Three EGFR Posttranslational Regulators MDGI, MIG6, and EIG121 in Invasive Breast Carcinomas. (PMID:32377505)
- Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer. (PMID:33455017)
- Inceptor counteracts insulin signalling in beta-cells to control glycaemia. (PMID:33505018)
- ELAPOR1 is a secretory granule maturation-promoting factor that is lost during paligenosis. (PMID:34816763)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elapor1 | ENSDARG00000042899 |
| mus_musculus | Elapor1 | ENSMUSG00000040412 |
| rattus_norvegicus | Elapor1 | ENSRNOG00000020272 |
Paralogs (1): ELAPOR2 (ENSG00000164659)
Protein
Protein identifiers
Endosome/lysosome-associated apoptosis and autophagy regulator 1 — Q6UXG2 (reviewed: Q6UXG2)
Alternative names: Estrogen-induced gene 121 protein
All UniProt accessions (8): E9PB18, E9PIF6, E9PLQ2, E9PLY8, E9PMS2, E9PS21, Q6UXG2, H0YDD2
UniProt curated annotations — full annotation on UniProt →
Function. May protect cells from cell death by inducing cytosolic vacuolization and up-regulating the autophagy pathway. May play a role in apoptosis and cell proliferation through its interaction with HSPA5.
Subunit / interactions. Interacts with HSPA5; may regulate the function of HSPA5 in apoptosis and cell proliferation.
Subcellular location. Cell membrane. Late endosome membrane. Golgi apparatus. trans-Golgi network membrane. Lysosome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in normal endometrium but overexpressed in endometroid tumors.
Induction. By estrogen replacement therapy.
Similarity. Belongs to the ELAPOR family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UXG2-1 | 1 | yes |
| Q6UXG2-2 | 2 | |
| Q6UXG2-3 | 3 | |
| Q6UXG2-4 | 4 |
RefSeq proteins (4): NP_001253977, NP_001271281, NP_001271282, NP_065826* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009011 | Man6P_isomerase_rcpt-bd_dom_sf | Homologous_superfamily |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR039181 | Elapor1/2 | Family |
| IPR044865 | MRH_dom | Domain |
| IPR056606 | Elapor1/2_C | Domain |
| IPR056607 | Elapor1/2_MRH | Domain |
| IPR056608 | Elapor1/2_GBD | Domain |
| IPR056609 | Elapor1-like_3rd | Domain |
| IPR056610 | Elapor1/2_TNFR-like | Domain |
Pfam: PF23031, PF23032, PF23087, PF23089, PF23091
UniProt features (24 total): disulfide bond 7, sequence variant 4, splice variant 3, glycosylation site 3, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UXG2-F1 | 77.33 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (7): 308–330, 311–342, 658–704, 714–739, 808–844, 820–856, 278–295
Glycosylation sites (3): 153, 404, 672
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 210 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, BENPORATH_ES_WITH_H3K27ME3, GOBP_VACUOLE_ORGANIZATION, XU_GH1_AUTOCRINE_TARGETS_UP, GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_VACUOLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION
GO Biological Process (5): autophagosome assembly (GO:0000045), cellular response to starvation (GO:0009267), positive regulation of vacuole organization (GO:0044090), positive regulation of autophagosome assembly (GO:2000786), autophagy (GO:0006914)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (12): lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), late endosome membrane (GO:0031902), extracellular exosome (GO:0070062), lysosome (GO:0005764), endosome (GO:0005768), late endosome (GO:0005770), endoplasmic reticulum (GO:0005783), trans-Golgi network (GO:0005802), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endomembrane system | 3 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| cellular response to nutrient levels | 1 |
| cellular response to stress | 1 |
| response to starvation | 1 |
| vacuole organization | 1 |
| positive regulation of organelle organization | 1 |
| regulation of vacuole organization | 1 |
| autophagosome assembly | 1 |
| positive regulation of macroautophagy | 1 |
| positive regulation of vacuole organization | 1 |
| positive regulation of organelle assembly | 1 |
| regulation of autophagosome assembly | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| extracellular vesicle | 1 |
| lytic vacuole | 1 |
| cytoplasmic vesicle | 1 |
| endosome | 1 |
| Golgi apparatus subcompartment | 1 |
Protein interactions and networks
STRING
880 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELAPOR1 | HACE1 | Q8IYU2 | 942 |
| ELAPOR1 | OR6S1 | Q8NH40 | 399 |
| ELAPOR1 | S4R3Q2 | S4R3Q2 | 396 |
| ELAPOR1 | C9orf152 | Q5JTZ5 | 394 |
| ELAPOR1 | C11orf96 | Q7Z7L8 | 391 |
| ELAPOR1 | TFF2 | Q03403 | 376 |
| ELAPOR1 | BTBD7 | Q9P203 | 325 |
| ELAPOR1 | RNF175 | Q8N4F7 | 325 |
| ELAPOR1 | TMEM9B | Q9NQ34 | 323 |
| ELAPOR1 | SPNS3 | Q6ZMD2 | 322 |
| ELAPOR1 | C17orf67 | Q0P5P2 | 320 |
| ELAPOR1 | CMC2 | Q9NRP2 | 319 |
| ELAPOR1 | ASRGL1 | Q7L266 | 319 |
| ELAPOR1 | SPDEF | O95238 | 316 |
| ELAPOR1 | SEZ6 | Q53EL9 | 315 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ELAPOR1 | KLHL41 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (16): KIAA1324 (Affinity Capture-MS), KIAA1324 (Proximity Label-MS), CIB1 (Two-hybrid), KIAA1324 (Affinity Capture-MS), KIAA1324 (Two-hybrid), KIAA1324 (Two-hybrid), KIAA1324 (Affinity Capture-MS), KIAA1324 (Affinity Capture-RNA), TMEM131 (Affinity Capture-MS), OSBPL3 (Affinity Capture-MS), TAF1A (Affinity Capture-MS), IQCB1 (Affinity Capture-MS), TAF6L (Affinity Capture-MS), DCUN1D5 (Affinity Capture-MS), KLHL41 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5PUP4, A2AFS3, M0R7X9, O70472, O75882, O95803, P01134, P26012, P52799, P52848, P69849, Q02353, Q05204, Q0VCJ8, Q12841, Q13635, Q15155, Q3UHN9, Q3ZBS2, Q58D84, Q5EA46, Q5JPE7, Q5R9Y1, Q5U4X8, Q5VV63, Q5ZJB7, Q5ZMH6, Q61115, Q62356, Q62632, Q6A051, Q6GQK9, Q6GQT9, Q6P988, Q6UXG2, Q7Z5A7, Q86TD4, Q90693, Q91WE9, Q96CW9
Diamond homologs: A2AFS3, A7E2Z9, A8MWY0, Q3UZV7, Q6DDW2, Q6UXG2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
186 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 148 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3654 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:109162010:GTGCT:G | donor_gain | 1.0000 |
| 1:109162012:GCT:G | donor_gain | 1.0000 |
| 1:109162015:G:GG | donor_gain | 1.0000 |
| 1:109164690:TC:T | donor_gain | 1.0000 |
| 1:109164692:G:GG | donor_gain | 1.0000 |
| 1:109171860:TCACA:T | acceptor_loss | 1.0000 |
| 1:109171861:CACAG:C | acceptor_loss | 1.0000 |
| 1:109171863:CA:C | acceptor_loss | 1.0000 |
| 1:109171864:A:AG | acceptor_gain | 1.0000 |
| 1:109171865:G:GG | acceptor_gain | 1.0000 |
| 1:109172003:T:G | donor_gain | 1.0000 |
| 1:109172003:T:TG | donor_gain | 1.0000 |
| 1:109172009:TTTTC:T | donor_gain | 1.0000 |
| 1:109172011:TTCGT:T | donor_loss | 1.0000 |
| 1:109172012:TC:T | donor_gain | 1.0000 |
| 1:109172012:TCG:T | donor_loss | 1.0000 |
| 1:109172013:CGTA:C | donor_loss | 1.0000 |
| 1:109172014:G:GG | donor_gain | 1.0000 |
| 1:109172014:GTAA:G | donor_loss | 1.0000 |
| 1:109172569:G:GG | donor_gain | 1.0000 |
| 1:109173686:AGG:A | acceptor_gain | 1.0000 |
| 1:109173687:GGG:G | acceptor_gain | 1.0000 |
| 1:109189055:T:TA | acceptor_gain | 1.0000 |
| 1:109189065:GACT:G | acceptor_gain | 1.0000 |
| 1:109189590:A:AG | acceptor_gain | 1.0000 |
| 1:109189590:AGGCT:A | acceptor_gain | 1.0000 |
| 1:109189591:G:GG | acceptor_gain | 1.0000 |
| 1:109189591:GGCT:G | acceptor_gain | 1.0000 |
| 1:109189591:GGCTG:G | acceptor_gain | 1.0000 |
| 1:109189676:GATT:G | donor_gain | 1.0000 |
AlphaMissense
6646 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:109171873:T:A | W159R | 1.000 |
| 1:109171873:T:C | W159R | 1.000 |
| 1:109171875:G:C | W159C | 1.000 |
| 1:109171875:G:T | W159C | 1.000 |
| 1:109161944:G:C | W68C | 0.999 |
| 1:109161944:G:T | W68C | 0.999 |
| 1:109164507:T:A | C95S | 0.999 |
| 1:109164508:G:A | C95Y | 0.999 |
| 1:109164508:G:C | C95S | 0.999 |
| 1:109164509:C:G | C95W | 0.999 |
| 1:109164546:T:A | C108S | 0.999 |
| 1:109164547:G:C | C108S | 0.999 |
| 1:109164603:T:A | W127R | 0.999 |
| 1:109164603:T:C | W127R | 0.999 |
| 1:109164605:G:C | W127C | 0.999 |
| 1:109164605:G:T | W127C | 0.999 |
| 1:109171928:T:C | L177P | 0.999 |
| 1:109172503:T:A | C211S | 0.999 |
| 1:109172503:T:C | C211R | 0.999 |
| 1:109172504:G:C | C211S | 0.999 |
| 1:109173507:T:A | W244R | 0.999 |
| 1:109173507:T:C | W244R | 0.999 |
| 1:109173708:T:A | C275S | 0.999 |
| 1:109173708:T:C | C275R | 0.999 |
| 1:109173709:G:C | C275S | 0.999 |
| 1:109173710:C:G | C275W | 0.999 |
| 1:109189594:T:A | W451R | 0.999 |
| 1:109189594:T:C | W451R | 0.999 |
| 1:109191831:T:A | W551R | 0.999 |
| 1:109191831:T:C | W551R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000014361 (1:109167000 GTTATT>G), RS1000055141 (1:109189987 A>C,G), RS1000184264 (1:109121982 T>C), RS1000220981 (1:109160483 A>G), RS1000263806 (1:109125177 C>T), RS1000295161 (1:109124894 C>T), RS1000299933 (1:109172759 T>C), RS1000386080 (1:109176626 T>A,G), RS1000415063 (1:109130982 T>C,G), RS1000417297 (1:109176941 G>T), RS1000427816 (1:109134615 G>C,T), RS1000436891 (1:109172374 T>C), RS1000515977 (1:109137585 T>C), RS1000518349 (1:109146464 C>T), RS1000533197 (1:109202066 C>T)
Disease associations
OMIM: gene MIM:611298 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002941_5 | Airway imaging phenotypes | 2.000000e-06 |
| GCST010243_253 | Apolipoprotein B levels | 2.000000e-09 |
| GCST90007009_9 | Gut microbiota relative abundance (Faecalibacterium) | 8.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007627 | airway imaging measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression | 3 |
| Aflatoxin B1 | decreases methylation, increases expression | 3 |
| Particulate Matter | increases abundance, increases expression, affects expression, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Testosterone | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.