DLEC1
geneOn this page
Also known as DLC1CFAP81FAP81
Summary
DLEC1 (DLEC1 cilia and flagella associated protein, HGNC:2899) is a protein-coding gene on chromosome 3p22.2, encoding Deleted in lung and esophageal cancer protein 1 (Q9Y238). Essential for spermatogenesis and male fertility.
The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.
Source: NCBI Gene 9940 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 348 total
- Phenotypes (HPO): 16
- MANE Select transcript:
NM_007335
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2899 |
| Approved symbol | DLEC1 |
| Name | DLEC1 cilia and flagella associated protein |
| Location | 3p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DLC1, CFAP81, FAP81 |
| Ensembl gene | ENSG00000008226 |
| Ensembl biotype | protein_coding |
| OMIM | 604050 |
| Entrez | 9940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 3 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000308059, ENST00000346219, ENST00000440294, ENST00000447130, ENST00000469151, ENST00000477260, ENST00000478428, ENST00000896006
RefSeq mRNA: 3 — MANE Select: NM_007335
NM_001321153, NM_007335, NM_007337
CCDS: CCDS2672
Canonical transcript exons
ENST00000308059 — 37 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001119421 | 38095888 | 38095946 |
| ENSE00001292224 | 38108405 | 38108515 |
| ENSE00001294472 | 38097744 | 38097902 |
| ENSE00001296971 | 38116453 | 38116658 |
| ENSE00001297174 | 38116975 | 38117100 |
| ENSE00001299739 | 38112210 | 38112361 |
| ENSE00001304299 | 38117527 | 38117611 |
| ENSE00001315785 | 38109432 | 38109562 |
| ENSE00001322316 | 38111677 | 38111747 |
| ENSE00001345995 | 38117208 | 38117302 |
| ENSE00001345997 | 38116773 | 38116889 |
| ENSE00001345999 | 38114983 | 38115053 |
| ENSE00001346000 | 38114342 | 38114460 |
| ENSE00001346003 | 38110099 | 38110281 |
| ENSE00001346008 | 38107584 | 38107737 |
| ENSE00001346009 | 38100286 | 38100425 |
| ENSE00001346019 | 38094879 | 38095071 |
| ENSE00001754119 | 38122071 | 38122194 |
| ENSE00001784907 | 38122289 | 38124025 |
| ENSE00003460800 | 38059742 | 38059852 |
| ENSE00003483647 | 38121628 | 38121781 |
| ENSE00003489445 | 38092790 | 38092880 |
| ENSE00003492131 | 38088296 | 38088388 |
| ENSE00003492882 | 38084158 | 38084245 |
| ENSE00003494185 | 38097182 | 38097275 |
| ENSE00003497443 | 38120448 | 38120609 |
| ENSE00003498168 | 38096569 | 38096737 |
| ENSE00003548178 | 38097507 | 38097637 |
| ENSE00003557342 | 38093605 | 38093767 |
| ENSE00003559543 | 38045543 | 38045693 |
| ENSE00003587488 | 38062169 | 38062368 |
| ENSE00003589279 | 38085274 | 38085447 |
| ENSE00003596935 | 38117806 | 38118024 |
| ENSE00003609262 | 38063841 | 38063919 |
| ENSE00003670547 | 38062581 | 38062801 |
| ENSE00003685830 | 38086241 | 38086377 |
| ENSE00003893674 | 38039208 | 38039636 |
Expression profiles
Bgee: expression breadth ubiquitous, 188 present calls, max score 99.30.
FANTOM5 (CAGE): breadth broad, TPM avg 0.6246 / max 59.9943, expressed in 195 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36090 | 0.6246 | 195 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 99.30 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 96.74 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.68 | gold quality |
| bronchus | UBERON:0002185 | 96.05 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.08 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.43 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 88.76 | gold quality |
| olfactory bulb | UBERON:0002264 | 88.08 | gold quality |
| left testis | UBERON:0004533 | 86.94 | gold quality |
| right testis | UBERON:0004534 | 86.75 | gold quality |
| caput epididymis | UBERON:0004358 | 86.39 | gold quality |
| diaphragm | UBERON:0001103 | 86.22 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 84.81 | gold quality |
| type B pancreatic cell | CL:0000169 | 84.78 | gold quality |
| pituitary gland | UBERON:0000007 | 84.20 | gold quality |
| adenohypophysis | UBERON:0002196 | 83.78 | gold quality |
| testis | UBERON:0000473 | 83.59 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 82.67 | gold quality |
| fallopian tube | UBERON:0003889 | 78.97 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 78.90 | gold quality |
| left uterine tube | UBERON:0001303 | 78.71 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 78.33 | gold quality |
| right lung | UBERON:0002167 | 77.89 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.03 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 76.17 | gold quality |
| trachea | UBERON:0003126 | 76.06 | gold quality |
| corpus epididymis | UBERON:0004359 | 75.96 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.76 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 75.20 | gold quality |
| granulocyte | CL:0000094 | 74.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SP1, SP3
miRNA regulators (miRDB)
19 targeting DLEC1, 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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-5590-5P | 98.81 | 68.78 | 969 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-4695-3P | 96.71 | 67.21 | 836 |
| HSA-MIR-31-3P | 95.17 | 69.82 | 575 |
Literature-anchored findings (GeneRIF, showing 22)
- DLEC1 suppresses the growth of ovarian cancer cells and its downregulation is closely associated with promoter hypermethylation and histone hypoacetylation (PMID:16756719)
- Silencing of DLEC1 expression by promoter hypermethylation and histone deacetylation may be important in nasopharyngeal carcinoma tumorigenesis. (PMID:17099870)
- DLEC1 is a candidate tumor suppressor gene that plays an important role in the development and progression of hepatocellular carcinoma. (PMID:18191269)
- DLEC1 methylation was an independent marker of poor survival in patients with non-small cell lung carcinoma. (PMID:18594535)
- DLEC1 underwent promoter methylation-associated silencing in colon and gastric tumour cell lines and primary tumours. (PMID:19156137)
- DLEC1 expression levels were significantly lower in samples from patients who developed metastasis, local recurrence, or died of breast cancer when compared to those who were disease free for >10 years. (PMID:20530412)
- Frequent epigenetic inactivation of deleted in lung and esophageal cancer 1 gene by promoter methylation is associated with non-small-cell lung cancer. (PMID:20630829)
- DLEC1 is often down-regulated by CpG methylation and shows tumor inhibitory function in renal cell carcinoma cells, indicating its role as a tumor suppressor (PMID:20639048)
- results demonstrate that down-expression and promoter methylation of DLEC1 increased from normal tissues to premalignancies and then to malignancies. (PMID:20952247)
- Epigenetic inactivation of DLEC1 was crucial in gastric and colorectal carcinogenesis. DLEC1 methylation in serum may be a promise biomarker for GAC and CRAC early diagnosis. (PMID:21443130)
- Repression of DLEC1 in squamous cell carcinoma tissues is associated with promoter hypermethylation. DLEC1 is downregulated in sinonasal squamous cell carcinoma and inverted papilloma and has a distinct mechanism. (PMID:22569009)
- methylation-mediated silencing of DLEC1 plays an important role in multiple lymphomagenesis, and may serve as a non-invasive tumor marker for lymphoma diagnosis (PMID:23050586)
- DLEC1 methylation was not associated with the clinicopathological variables of gastric cancer. (PMID:25574068)
- DLEC1 mediates tumor-suppressive activities through NF-kappaB signaling. (PMID:25648635)
- DLEC1 is down-regulated in head and neck squamous cell tumors and it’s promoter methylation is not associated with the clinicopathological parameters. (PMID:25746324)
- the expression levels of DLEC1 and ITGA9 were prominently decreased in lung tumor samples (PMID:27287342)
- We found no correlation between the DLEC1, TUSC4 and MLH1 gene expression and NSCLC patient characteristics (gender, age and smoking) or cancer histopathology. No significant differences in the gene expression among NSCLC subtypes indicate the weakness of DLEC1, TUSC4 and MLH1 expression analysis as potential differentiating markers of NSCLC subtypes in the Polish population. (PMID:28674222)
- DLEC1 methylation can be utilized to identify a subset with a better prognosis in intrahepatic cholangiocarcinomas of the small duct type. (PMID:30610381)
- that the KLF4 and DLEC1 genes can be considered potential methylation biomarkers for uterine leiomyomas (PMID:31176573)
- Compared with negative methylation (Nm), DLEC1-positive methylation (Pm) was associated with increased GC risk in PS (OR 2.083, 95% CI 1.220-3.558, P = 0.007), but PBX3 Pm was not associated with GC risk. (PMID:32144534)
- Dlec1 is required for spermatogenesis and male fertility in mice. (PMID:33144677)
- PM2.5 exposure and DLEC1 promoter methylation in Taiwan Biobank participants. (PMID:33153431)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dlec1 | ENSMUSG00000038060 |
| rattus_norvegicus | Dlec1 | ENSRNOG00000032085 |
Paralogs (2): HYDIN (ENSG00000157423), CFAP47 (ENSG00000165164)
Protein
Protein identifiers
Deleted in lung and esophageal cancer protein 1 — Q9Y238 (reviewed: Q9Y238)
Alternative names: Deleted in lung cancer protein 1
All UniProt accessions (2): Q9Y238, Q32W76
UniProt curated annotations — full annotation on UniProt →
Function. Essential for spermatogenesis and male fertility. May play an important role in sperm head and tail formation. May act as a tumor suppressor by inhibiting cell proliferation.
Subunit / interactions. Interacts with alpha- and beta-tubulin. Interacts with BBS2, BBS4, BBS5, MKKS, TCP1, CCT2, CCT3, CCT4, CCT5 and CCT7.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in all tissues examined. Expression is highest in prostate and testis.
Disease relevance. DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of different cancers, including esophageal (ESCR), renal and lung cancers (LNCR). Lung cancer (LNCR) [MIM:211980] A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of lung cancer. Esophageal cancer (ESCR) [MIM:133239] A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription may be implicated in the development of esophageal cancer.
Miscellaneous. Levels of this splice isoform may be increased in cancer cell lines and primary cancers. Levels of this splice isoform are increased in cancer cell lines and primary cancers.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y238-1 | 1 | yes |
| Q9Y238-2 | 2 | |
| Q9Y238-3 | 3, 1S3 |
RefSeq proteins (3): NP_001308082, NP_031361, NP_031363 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR033304 | DLEC1 | Family |
| IPR059041 | Ig_DLEC1_1 | Domain |
Pfam: PF23277, PF23316
UniProt features (18 total): sequence variant 6, splice variant 4, region of interest 3, sequence conflict 2, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y238-F1 | 71.51 | 0.14 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 583 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, MODULE_255, PEREZ_TP63_TARGETS, ATACCTC_MIR202, MODULE_45, GOBP_FOCAL_ADHESION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP
GO Biological Process (4): defense response to tumor cell (GO:0002357), spermatogenesis (GO:0007283), negative regulation of cell population proliferation (GO:0008285), cell differentiation (GO:0030154)
GO Molecular Function (4): tubulin binding (GO:0015631), alpha-tubulin binding (GO:0043014), beta-tubulin binding (GO:0048487), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), cilium (GO:0005929)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tubulin binding | 2 |
| cellular anatomical structure | 2 |
| response to tumor cell | 1 |
| defense response | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| cellular developmental process | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1220 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DLEC1 | PLCD1 | P51178 | 761 |
| DLEC1 | RNF6 | Q9Y252 | 752 |
| DLEC1 | LZTS1 | Q9Y250 | 731 |
| DLEC1 | SLC52A3 | Q9NQ40 | 722 |
| DLEC1 | S100A14 | Q9HCY8 | 669 |
| DLEC1 | RASSF1 | Q9NS23 | 600 |
| DLEC1 | PLCE1 | Q9P212 | 589 |
| DLEC1 | SPAG6 | O75602 | 578 |
| DLEC1 | CFAP92 | Q9ULG3 | 572 |
| DLEC1 | SPATA17 | Q96L03 | 570 |
| DLEC1 | ADH1B | P00325 | 566 |
| DLEC1 | OXSR1 | O95747 | 550 |
| DLEC1 | ALDH2 | P05091 | 522 |
| DLEC1 | WWOX | Q9NZC7 | 512 |
| DLEC1 | CDH13 | P55290 | 473 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DLEC1 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DLEC1 | BOD1L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DLEC1 | TBC1D5 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (6): DLEC1 (Affinity Capture-MS), DLEC1 (Proximity Label-MS), DLEC1 (Proximity Label-MS), TBC1D5 (Affinity Capture-MS), DLEC1 (Cross-Linking-MS (XL-MS)), DLEC1 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A087WRI3, A2AIP0, A2RRW4, A4D2P6, A6QPC0, A8E5W8, A8MTA8, A9JS51, E9PGG2, G3X6E2, H3BNL1, O08856, O43247, O43566, O70373, P54098, P54099, Q0VB26, Q12770, Q2TA11, Q2TBR5, Q3ZBN4, Q400G9, Q4QR77, Q5MNU5, Q5RDC3, Q6J272, Q6ZQR2, Q70EL4, Q8BL74, Q8BUM9, Q8BX43, Q8C0R7, Q8C4S8, Q8N1D5, Q8N6G2, Q8WUA4, Q8WW14, Q969Z4, Q96MK2
Diamond homologs: A8J6X7, A9Q751, Q4G0U5, Q8BLA1, Q9Y238, Q68FQ8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
348 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 286 |
| Likely benign | 34 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7173 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:38039632:AGCAG:A | donor_loss | 1.0000 |
| 3:38039633:GCAG:G | donor_gain | 1.0000 |
| 3:38039633:GCAGG:G | donor_loss | 1.0000 |
| 3:38039634:CAG:C | donor_loss | 1.0000 |
| 3:38039635:AGG:A | donor_loss | 1.0000 |
| 3:38039636:GG:G | donor_loss | 1.0000 |
| 3:38039637:G:C | donor_loss | 1.0000 |
| 3:38039638:T:A | donor_loss | 1.0000 |
| 3:38045689:TCCAG:T | donor_loss | 1.0000 |
| 3:38045690:CCAGG:C | donor_loss | 1.0000 |
| 3:38045691:CAGG:C | donor_loss | 1.0000 |
| 3:38045692:AG:A | donor_loss | 1.0000 |
| 3:38045693:GGTG:G | donor_loss | 1.0000 |
| 3:38045694:G:T | donor_loss | 1.0000 |
| 3:38045695:T:A | donor_loss | 1.0000 |
| 3:38059736:A:AG | acceptor_gain | 1.0000 |
| 3:38059736:AT:A | acceptor_gain | 1.0000 |
| 3:38059737:T:G | acceptor_gain | 1.0000 |
| 3:38059737:T:TA | acceptor_gain | 1.0000 |
| 3:38062165:GTAG:G | acceptor_loss | 1.0000 |
| 3:38062166:TA:T | acceptor_loss | 1.0000 |
| 3:38062167:A:AG | acceptor_gain | 1.0000 |
| 3:38062168:G:GG | acceptor_gain | 1.0000 |
| 3:38062168:G:GT | acceptor_loss | 1.0000 |
| 3:38062168:GGC:G | acceptor_gain | 1.0000 |
| 3:38062364:TCAAG:T | donor_loss | 1.0000 |
| 3:38062365:CAAGG:C | donor_loss | 1.0000 |
| 3:38062366:AAG:A | donor_loss | 1.0000 |
| 3:38062368:GGTC:G | donor_loss | 1.0000 |
| 3:38062369:GTCA:G | donor_loss | 1.0000 |
AlphaMissense
11504 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:38094901:T:A | W648R | 0.995 |
| 3:38094901:T:C | W648R | 0.995 |
| 3:38097218:T:A | W793R | 0.994 |
| 3:38097218:T:C | W793R | 0.994 |
| 3:38115044:A:C | S1283R | 0.994 |
| 3:38115046:C:A | S1283R | 0.994 |
| 3:38115046:C:G | S1283R | 0.994 |
| 3:38093749:T:C | L634P | 0.992 |
| 3:38094994:T:C | F679L | 0.992 |
| 3:38094996:C:A | F679L | 0.992 |
| 3:38094996:C:G | F679L | 0.992 |
| 3:38097190:C:A | N783K | 0.992 |
| 3:38097190:C:G | N783K | 0.992 |
| 3:38097855:T:A | W893R | 0.992 |
| 3:38097855:T:C | W893R | 0.992 |
| 3:38112329:T:A | W1212R | 0.992 |
| 3:38112329:T:C | W1212R | 0.992 |
| 3:38116467:T:A | W1291R | 0.992 |
| 3:38116467:T:C | W1291R | 0.992 |
| 3:38097194:A:C | S785R | 0.991 |
| 3:38097196:C:A | S785R | 0.991 |
| 3:38097196:C:G | S785R | 0.991 |
| 3:38097615:T:C | L848S | 0.991 |
| 3:38112344:G:C | D1217H | 0.990 |
| 3:38084178:C:A | N398K | 0.989 |
| 3:38084178:C:G | N398K | 0.989 |
| 3:38086311:T:A | N502K | 0.989 |
| 3:38086311:T:G | N502K | 0.989 |
| 3:38094895:T:C | F646L | 0.989 |
| 3:38094897:C:A | F646L | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000022673 (3:38089918 T>A), RS1000027069 (3:38098528 C>T), RS1000058219 (3:38098810 C>A), RS1000148225 (3:38059069 C>T), RS1000209255 (3:38119083 G>A), RS1000275821 (3:38073776 G>C), RS1000284486 (3:38105900 C>A,T), RS1000394246 (3:38086083 G>A), RS1000425365 (3:38086504 A>G,T), RS1000432964 (3:38046307 T>A,C), RS1000502809 (3:38074734 C>T), RS1000532195 (3:38091031 A>G,T), RS1000576637 (3:38040182 C>G), RS1000588576 (3:38105953 C>T), RS1000643086 (3:38080321 T>C,G)
Disease associations
OMIM: gene MIM:604050 | disease phenotypes: MIM:133239
GenCC curated gene-disease
Mondo (1): esophageal cancer (MONDO:0007576)
Orphanet (1): Squamous cell carcinoma of the esophagus (Orphanet:99977)
HPO phenotypes
16 total (16 of 16 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0001608 | Abnormality of the voice |
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0002017 | Nausea and vomiting |
| HP:0002716 | Lymphadenopathy |
| HP:0002891 | Uterine leiomyosarcoma |
| HP:0003003 | Colon cancer |
| HP:0005584 | Renal cell carcinoma |
| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma |
| HP:0006740 | Transitional cell carcinoma of the bladder |
| HP:0006753 | Neoplasm of the stomach |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0011459 | Esophageal carcinoma |
| HP:0012735 | Cough |
| HP:0100749 | Chest pain |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003114_10 | Carotid intima media thickness | 7.000000e-06 |
| GCST003875_38 | Gut microbiota (bacterial taxa) | 6.000000e-09 |
| GCST005182_7 | Common carotid intima-media thickness in HIV negative individuals | 6.000000e-06 |
| GCST007103_6 | QRS duration | 6.000000e-20 |
| GCST007104_6 | QRS duration | 4.000000e-29 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0007883 | taxonomic microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00333099 | PHASE4 | COMPLETED | INEC Study: Immuno-modulating Enteral Nutrition in Cancer |
| NCT00365508 | PHASE4 | COMPLETED | Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking |
| NCT00666978 | PHASE4 | COMPLETED | Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking |
| NCT00754468 | PHASE4 | COMPLETED | Study of CryoSpray Ablation(TM)to Determine Treatment Effect, Depth of Injury, and Side Effects in the Esophagus. |
| NCT00790140 | PHASE4 | UNKNOWN | Trial of Enteral Nutrition Enriched With Eicosapentaenoic Acid (EPA) in Upper Gastrointestinal Cancer Surgery |
| NCT00911092 | PHASE4 | COMPLETED | Predictive Proteomic Factors of the Response to Concomitant Radiochemotherapy in Esophageal Cancer |
| NCT01038154 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer |
| NCT01416077 | PHASE4 | COMPLETED | Decreasing Postoperative Complications by Goal-Directed Fluid Therapy During Esophageal Resection |
| NCT01927328 | PHASE4 | UNKNOWN | Iron Replacement in Oesophagogastric Neoplasia |
| NCT01962272 | PHASE4 | COMPLETED | The Effect of Nutritional Counseling for Cancer Patients |
| NCT02042313 | PHASE4 | UNKNOWN | Postoperative Pain Management After Minimally Invasive Esophagectomy |
| NCT02320734 | PHASE4 | COMPLETED | Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy |
| NCT03384511 | PHASE4 | COMPLETED | The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies. |
| NCT03413436 | PHASE4 | COMPLETED | Lobaplation or Cisplatin in Adjuvant Chemotherapy for Esophageal Carcinoma |
| NCT03642093 | PHASE4 | UNKNOWN | HOPE - A Study to Evaluate the Effect of a Prehabilitation Program on GI Cancer Patients Planning to Undergo Surgery |
| NCT04269369 | PHASE4 | UNKNOWN | Implementation of Pre-emptive Geno- and Phenotyping in 5-Fluorouracil- or Capecitabine-treated Patients |
| NCT05183126 | PHASE4 | RECRUITING | Pharmacokinetic Study of Skeletal Muscle Area-based Paclitaxel Infusion in Patients With Cancer |
| NCT06437288 | PHASE4 | ENROLLING_BY_INVITATION | Hematoporphyrin Photodynamic Therapy for Esophageal Cancer |
| NCT07124351 | PHASE4 | RECRUITING | Intraoperative Imaging of Gastrointestinal Malignancies Using Pafolacianine (CYTALUX™) |
| NCT00002631 | PHASE3 | COMPLETED | Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Cancer of the Esophagus |
| NCT00002883 | PHASE3 | COMPLETED | Surgery With or Without Combination Chemotherapy in Treating Patients With Cancer of the Esophagus |
| NCT00002884 | PHASE3 | UNKNOWN | Chemotherapy and Radiation Therapy in Treating Patients With Cancer of the Esophagus |
| NCT00002897 | PHASE3 | COMPLETED | Surgery With or Without Chemotherapy in Treating Patients With Stage II or Stage III Cancer of the Esophagus |
| NCT00003118 | PHASE3 | COMPLETED | Surgery With or Without Chemotherapy and Radiation Therapy in Treating Patients With Cancer of the Esophagus |
| NCT00020787 | PHASE3 | COMPLETED | Vaccine Therapy Plus Chemotherapy in Treating Patients With Metastatic or Locally Recurrent Stomach Cancer or Esophageal Cancer |
| NCT00041262 | PHASE3 | UNKNOWN | Combination Chemotherapy in Treating Patients With Esophageal Cancer |
| NCT00047112 | PHASE3 | COMPLETED | Surgery With or Without Radiation Therapy and Chemotherapy in Treating Patients With Esophageal Cancer |
| NCT00052910 | PHASE3 | COMPLETED | Chemotherapy and Radiation Therapy After Surgery in Treating Patients With Stomach or Esophageal Cancer |
| NCT00165061 | PHASE3 | COMPLETED | Multi-Center Prospective Randomized Trial Comparing Standard Esophagectomy Against Chemo-Radiotherapy for Treatment of Squamous Esophageal Cancer - Early Results From the Chinese University Research Group for Esophageal Cancer (CURE) |
| NCT00193817 | PHASE3 | UNKNOWN | Three Field Radical Esophagectomy Versus Two Field Esophagectomy - a Prospective Trial |
| NCT00193882 | PHASE3 | COMPLETED | Advanced Oesophageal Cancer Study to Compare Quality of Life and Palliation of Dysphagia. |
| NCT00270166 | PHASE3 | COMPLETED | The Effect of Epoetin Alfa on the Anemia of Patients With Selected Cancers Receiving Chemotherapy |
| NCT00357682 | PHASE3 | COMPLETED | A Phase III, Randomized, Study of Aspirin and Esomeprazole Chemoprevention in Barrett’s Metaplasia |
| NCT00359645 | PHASE3 | COMPLETED | Randomized Trial to Assess the Impact of a Screening Program on Upper Aerodigestive Tract Cancer Mortality in a High Risk Population |
| NCT00387348 | PHASE3 | TERMINATED | Escitalopram in Treating Depression in Patients With Advanced Lung or Gastrointestinal Cancer |
| NCT00416858 | PHASE3 | COMPLETED | Radiation Therapy and Combination Chemotherapy With or Without Surgery in Treating Patients With Locally Advanced Esophageal Cancer That Can Be Removed By Surgery |
| NCT00525200 | PHASE3 | COMPLETED | p53-Adjusted Neoadjuvant Chemotherapy for Potentially Resectable Esophageal Cancer |
| NCT00655876 | PHASE3 | COMPLETED | Paclitaxel, Cisplatin, and Radiation Therapy With or Without Cetuximab in Treating Patients With Locally Advanced Esophageal Cancer |
| NCT00665197 | PHASE3 | COMPLETED | Palliative Radiotherapy and Brachytherapy for Oesophageal Cancer Dysphagia |
| NCT00686114 | PHASE3 | UNKNOWN | Concurrent Chemoradiotherapy Containing Paclitaxel&Cisplatin With/Without Tarceva in Locally Advanced Esophageal Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): esophageal cancer