ETNK1
geneOn this page
Also known as EKI1EKI
Summary
ETNK1 (ethanolamine kinase 1, HGNC:24649) is a protein-coding gene on chromosome 12p12.1, encoding Ethanolamine kinase 1 (Q9HBU6). Highly specific for ethanolamine phosphorylation.
This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 55500 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 58 total — 1 pathogenic
- MANE Select transcript:
NM_018638
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24649 |
| Approved symbol | ETNK1 |
| Name | ethanolamine kinase 1 |
| Location | 12p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EKI1, EKI |
| Ensembl gene | ENSG00000139163 |
| Ensembl biotype | protein_coding |
| OMIM | 609858 |
| Entrez | 55500 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 10 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000266517, ENST00000335148, ENST00000538218, ENST00000539974, ENST00000544191, ENST00000545979, ENST00000671733, ENST00000672951, ENST00000672995, ENST00000673188, ENST00000673406, ENST00000673496, ENST00000864020, ENST00000864021, ENST00000930361, ENST00000960838
RefSeq mRNA: 2 — MANE Select: NM_018638
NM_001039481, NM_018638
CCDS: CCDS41760, CCDS8698
Canonical transcript exons
ENST00000266517 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001141583 | 22684882 | 22690665 |
| ENSE00001177068 | 22671272 | 22671355 |
| ENSE00001177071 | 22661063 | 22661205 |
| ENSE00001177082 | 22643763 | 22644022 |
| ENSE00003483329 | 22659014 | 22659154 |
| ENSE00003522583 | 22684483 | 22684556 |
| ENSE00003547802 | 22673500 | 22673660 |
| ENSE00003895506 | 22625171 | 22625586 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 98.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.1864 / max 4162.5481, expressed in 1820 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124703 | 19.2982 | 1801 |
| 124710 | 13.7301 | 1535 |
| 124704 | 13.6827 | 1779 |
| 124706 | 6.2459 | 1650 |
| 124705 | 1.8307 | 1183 |
| 124708 | 0.3988 | 157 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 98.07 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.23 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.18 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.82 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.44 | gold quality |
| retina | UBERON:0000966 | 96.41 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.25 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.14 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.06 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.28 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.76 | gold quality |
| tibia | UBERON:0000979 | 94.59 | gold quality |
| caput epididymis | UBERON:0004358 | 94.46 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.44 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.21 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.34 | gold quality |
| visceral pleura | UBERON:0002401 | 93.32 | gold quality |
| duodenum | UBERON:0002114 | 93.07 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.86 | gold quality |
| endometrium | UBERON:0001295 | 92.85 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.62 | gold quality |
| rectum | UBERON:0001052 | 92.51 | gold quality |
| eye | UBERON:0000970 | 92.40 | gold quality |
| cartilage tissue | UBERON:0002418 | 92.39 | gold quality |
| cortical plate | UBERON:0005343 | 92.35 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.25 | gold quality |
| parietal pleura | UBERON:0002400 | 92.10 | gold quality |
| gall bladder | UBERON:0002110 | 91.94 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 17.40 |
| E-MTAB-8894 | no | 209.50 |
| E-ENAD-27 | no | 11.99 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ZNF569
miRNA regulators (miRDB)
392 targeting ETNK1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
Literature-anchored findings (GeneRIF, showing 6)
- DAD-R, SOX5, and EKI1 map within region of chromosome 12p whose duplication is related to reduced apoptosis in human testicular seminomas. (PMID:11912161)
- Recurrent ETNK1 mutations are associated with chronic myeloid leukemia. (PMID:25343957)
- we identified novel somatic missense ETNK1 mutations that were most frequent in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia (PMID:25615281)
- miR-199a-3p regulates the invasion and migration of gastric cancer cells by targeting ETNK1 (PMID:31255331)
- ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine. (PMID:33230096)
- ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia. (PMID:36583229)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | etnk1 | ENSDARG00000019420 |
| mus_musculus | Etnk1 | ENSMUSG00000030275 |
| rattus_norvegicus | Etnk1 | ENSRNOG00000014856 |
| drosophila_melanogaster | eas | FBGN0000536 |
| caenorhabditis_elegans | WBGENE00000515 |
Paralogs (3): CHKB (ENSG00000100288), CHKA (ENSG00000110721), ETNK2 (ENSG00000143845)
Protein
Protein identifiers
Ethanolamine kinase 1 — Q9HBU6 (reviewed: Q9HBU6)
All UniProt accessions (6): Q9HBU6, A0A5F9ZI33, A0A5K1VW28, H0YFP7, H0YH69, Q86U68
UniProt curated annotations — full annotation on UniProt →
Function. Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis.
Pathway. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.
Similarity. Belongs to the choline/ethanolamine kinase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HBU6-1 | 1 | yes |
| Q9HBU6-2 | 2 |
RefSeq proteins (2): NP_001034570, NP_061108* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
Pfam: PF01633
Enzyme classification (BRENDA):
- EC 2.7.1.82 — ethanolamine kinase (BRENDA: 27 organisms, 39 substrates, 69 inhibitors, 25 Km, 3 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ETHANOLAMINE | 0.008–10 | 13 |
| ATP | 0.0206–10 | 7 |
| CHOLINE | 0.02–0.275 | 3 |
| DL-1-AMINOPROPAN-2-OL | 0.36 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- ethanolamine + ATP = phosphoethanolamine + ADP + H(+) (RHEA:13069)
UniProt features (4 total): chain 1, region of interest 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HBU6-F1 | 84.76 | 0.70 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1483213 | Synthesis of PE |
MSigDB gene sets: 344 (showing top):
GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_LIPID_BIOSYNTHETIC_PROCESS, TIEN_INTESTINE_PROBIOTICS_24HR_UP
GO Biological Process (3): phosphatidylethanolamine biosynthetic process (GO:0006646), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)
GO Molecular Function (6): ethanolamine kinase activity (GO:0004305), ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| phosphatidylethanolamine metabolic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| primary metabolic process | 1 |
| phospholipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| organophosphate biosynthetic process | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1114 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ETNK1 | SOX5 | P35711 | 859 |
| ETNK1 | SELENOI | Q9C0D9 | 790 |
| ETNK1 | PCYT2 | Q99447 | 747 |
| ETNK1 | SETBP1 | Q9Y6X0 | 669 |
| ETNK1 | CLPTM1L | Q96KA5 | 630 |
| ETNK1 | PISD | Q9UG56 | 621 |
| ETNK1 | CEPT1 | Q9Y6K0 | 606 |
| ETNK1 | DMRT1 | Q9Y5R6 | 601 |
| ETNK1 | ZRSR2 | Q15696 | 592 |
| ETNK1 | ASXL1 | Q8IXJ9 | 583 |
| ETNK1 | CSF3R | Q99062 | 576 |
| ETNK1 | U2AF1 | Q01081 | 570 |
| ETNK1 | SRSF2 | Q01130 | 570 |
| ETNK1 | SOX6 | P35712 | 548 |
| ETNK1 | ATF7IP | Q6VMQ6 | 548 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NASP | H3C1 | psi-mi:“MI:0914”(association) | 0.910 |
| ETNK1 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | ETNK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ETNK1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAMLG | ETNK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGTB | ETNK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC51B | ETNK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGTA | ETNK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EVA1C | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PNLIP | LAMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| WDTC1 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| NASP | H4C16 | psi-mi:“MI:0914”(association) | 0.530 |
| ETNK1 | ETNK2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC18A1 | LIMK2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRN2 | TRIM13 | psi-mi:“MI:0914”(association) | 0.350 |
| NOCT | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| WDTC1 | TCP1 | psi-mi:“MI:0914”(association) | 0.350 |
| NASP | H4C16 | psi-mi:“MI:0914”(association) | 0.350 |
| NAPRT | ETNK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ABCA2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| GJA10 | FBXO42 | psi-mi:“MI:0914”(association) | 0.350 |
| WDTC1 | PHGDH | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): ETNK1 (Two-hybrid), ETNK1 (Co-fractionation), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-RNA), ETNK1 (Two-hybrid), CAMLG (Two-hybrid), SLC51B (Two-hybrid), UBQLN2 (Two-hybrid)
ESM2 similar proteins: A4D126, A4IF87, A4IGD2, A4II32, E0CYC6, E0CYR6, E1BCH6, E9PYK3, E9Q5L8, F1ND48, G1SPE9, O15228, P50747, P79774, P85118, P98192, Q1HAQ0, Q1LWG4, Q3TD49, Q3TFD2, Q3U269, Q4AC99, Q4R8P0, Q5F383, Q5PQL3, Q5RCP1, Q5SZD4, Q8CHQ9, Q8K2I9, Q8NF37, Q8NFZ0, Q90678, Q96GJ1, Q96MI9, Q99487, Q9D1Z3, Q9D4H7, Q9ES71, Q9HBU6, Q9JIY6
Diamond homologs: A7MCT6, A7SK27, D3ZRW8, O54783, O55229, O81024, P54352, Q869T9, Q8L518, Q9D4V0, Q9HBU6, Q9M9H6, Q9NVF9, Q9SZ92, Q9Y259, P20485, O54804, P35790, P46558, P46559, P46560, Q01134, Q22942, P41949, Q554D8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ETNK1 | “up-regulates quantity” | O-phosphonatoethanaminium(1-) | “chemical modification” |
| ETNK1 | “down-regulates quantity” | ethanolaminium(1+) | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 666436 | GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1 | Pathogenic |
SpliceAI
1997 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:22625572:G:GT | donor_gain | 1.0000 |
| 12:22643745:A:AG | acceptor_gain | 1.0000 |
| 12:22643746:A:G | acceptor_gain | 1.0000 |
| 12:22644018:TTCAG:T | donor_loss | 1.0000 |
| 12:22644019:TCAG:T | donor_loss | 1.0000 |
| 12:22644020:CAGG:C | donor_loss | 1.0000 |
| 12:22644021:AGGT:A | donor_loss | 1.0000 |
| 12:22644022:GG:G | donor_loss | 1.0000 |
| 12:22644023:G:T | donor_loss | 1.0000 |
| 12:22644024:T:G | donor_loss | 1.0000 |
| 12:22661052:A:AG | acceptor_gain | 1.0000 |
| 12:22661053:A:G | acceptor_gain | 1.0000 |
| 12:22661060:AAGGT:A | acceptor_loss | 1.0000 |
| 12:22671267:C:G | acceptor_gain | 1.0000 |
| 12:22671268:A:AG | acceptor_gain | 1.0000 |
| 12:22671268:ATAG:A | acceptor_gain | 1.0000 |
| 12:22671269:T:G | acceptor_gain | 1.0000 |
| 12:22671270:A:AG | acceptor_gain | 1.0000 |
| 12:22671270:A:C | acceptor_loss | 1.0000 |
| 12:22671271:G:C | acceptor_loss | 1.0000 |
| 12:22671271:G:GG | acceptor_gain | 1.0000 |
| 12:22671271:GGT:G | acceptor_gain | 1.0000 |
| 12:22671351:TGCAG:T | donor_loss | 1.0000 |
| 12:22671353:CAGG:C | donor_loss | 1.0000 |
| 12:22671354:AG:A | donor_loss | 1.0000 |
| 12:22671355:GG:G | donor_loss | 1.0000 |
| 12:22671356:G:GC | donor_loss | 1.0000 |
| 12:22671367:G:GT | donor_gain | 1.0000 |
| 12:22673619:G:GT | donor_gain | 1.0000 |
| 12:22673658:TTGGT:T | donor_loss | 1.0000 |
AlphaMissense
2414 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:22643776:G:A | G146E | 1.000 |
| 12:22643782:C:T | T148I | 1.000 |
| 12:22643784:A:G | N149D | 1.000 |
| 12:22643785:A:T | N149I | 1.000 |
| 12:22643786:T:A | N149K | 1.000 |
| 12:22643786:T:G | N149K | 1.000 |
| 12:22643791:T:A | L151H | 1.000 |
| 12:22643791:T:C | L151P | 1.000 |
| 12:22643830:T:A | V164D | 1.000 |
| 12:22643833:T:C | L165P | 1.000 |
| 12:22643839:G:C | R167T | 1.000 |
| 12:22643840:A:C | R167S | 1.000 |
| 12:22643840:A:T | R167S | 1.000 |
| 12:22643848:G:A | G170D | 1.000 |
| 12:22643848:G:T | G170V | 1.000 |
| 12:22643943:T:C | F202L | 1.000 |
| 12:22643945:C:A | F202L | 1.000 |
| 12:22643945:C:G | F202L | 1.000 |
| 12:22643952:G:A | G205R | 1.000 |
| 12:22643952:G:C | G205R | 1.000 |
| 12:22643953:G:A | G205E | 1.000 |
| 12:22643953:G:T | G205V | 1.000 |
| 12:22643958:T:C | C207R | 1.000 |
| 12:22643959:G:A | C207Y | 1.000 |
| 12:22643960:C:G | C207W | 1.000 |
| 12:22643967:T:C | F210L | 1.000 |
| 12:22643969:T:A | F210L | 1.000 |
| 12:22643969:T:G | F210L | 1.000 |
| 12:22643976:G:A | G213R | 1.000 |
| 12:22643976:G:C | G213R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000029850 (12:22646580 T>C), RS1000036930 (12:22623232 C>T), RS1000042073 (12:22651941 C>T), RS1000062438 (12:22666809 A>G), RS1000145776 (12:22646840 A>C), RS1000174821 (12:22676670 A>G), RS1000233800 (12:22629104 A>G), RS1000253754 (12:22648795 C>T), RS1000256957 (12:22686865 T>C), RS1000290479 (12:22640059 C>T), RS1000305938 (12:22649139 C>A,G,T), RS1000315564 (12:22680498 C>A,T), RS1000348578 (12:22635377 C>G), RS1000398153 (12:22633691 C>G,T), RS1000424948 (12:22653677 A>C)
Disease associations
OMIM: gene MIM:609858 | disease phenotypes: MIM:616803
GenCC curated gene-disease
Mondo (2): teratoma (MONDO:0002601), Lamb-Shaffer syndrome (MONDO:0014778)
Orphanet (3): 12p12.1 microdeletion syndrome (Orphanet:313884), Developmental and speech delay due to SOX5 deficiency (Orphanet:313892), Lamb-Shaffer syndrome (Orphanet:530983)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003817_10 | Mortality in sepsis | 3.000000e-06 |
| GCST007329_11 | Automobile speeding propensity | 3.000000e-09 |
| GCST007576_88 | Chronotype | 5.000000e-10 |
| GCST009182_11 | Precuneus cortex volume | 8.000000e-06 |
| GCST010002_211 | Refractive error | 9.000000e-26 |
| GCST010244_375 | Triglyceride levels | 8.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004352 | mortality |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D013724 | Teratoma | C04.557.465.910 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression, affects cotreatment | 5 |
| methylmercuric chloride | increases expression, affects cotreatment, decreases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| afimoxifene | decreases response to substance, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Rotenone | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| deoxynivalenol | increases expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| doxifluridine | increases response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| S 1 (combination) | increases response to substance | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| thifluzamide | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1RL | Abcam HeLa ETNK1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
18 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00104676 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Patients With Stage II or Stage III Germ Cell Tumors |
| NCT02375204 | PHASE3 | ACTIVE_NOT_RECRUITING | Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors |
| NCT00002931 | PHASE2 | COMPLETED | Combination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Relapsed Germ Cell Cancer |
| NCT00301782 | PHASE2 | COMPLETED | Combination Chemotherapy in Treating Male Patients With Germ Cell Tumors |
| NCT00432094 | PHASE2 | COMPLETED | Autologous Peripheral Blood Stem Cell Transplant for Germ Cell Tumors |
| NCT00453232 | PHASE2 | COMPLETED | Combination Chemotherapy and Pegfilgrastim in Treating Men With Metastatic Germ Cell Tumors |
| NCT00453310 | PHASE2 | COMPLETED | Sunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment |
| NCT00470366 | PHASE2 | COMPLETED | Combination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors |
| NCT02300987 | PHASE2 | COMPLETED | A Randomized, Blinded, Placebo-controlled, Phase II Trial of LEE011 in Patients With Relapsed, Refractory, Incurable Teratoma With Recent Progression |
| NCT00003643 | PHASE2/PHASE3 | UNKNOWN | Combination Chemotherapy in Treating Men With Germ Cell Cancer |
| NCT00423852 | PHASE1/PHASE2 | COMPLETED | Paclitaxel, Ifosfamide, and Carboplatin Followed By Autologous Stem Cell Transplant in Treating Patients With Germ Cell Tumors That Did Not Respond to Cisplatin |
| NCT00687778 | Not specified | UNKNOWN | 11C-Acetate PET/CT Non-FDG-Avid Tumors |
| NCT00836121 | Not specified | COMPLETED | Anterior Mediastinum Teratoma: A Case Report |
| NCT05179850 | Not specified | UNKNOWN | Computer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children |
| NCT05187923 | Not specified | UNKNOWN | Computer Aided Tool for Diagnosis of Neck Masses in Children |
| NCT05564026 | Not specified | RECRUITING | Molecular Epidemiology of Pediatric Germ Cell Tumors |
| NCT06421805 | Not specified | RECRUITING | Establishing Prospective Mediastinal Tumor Database of PUMCH |
| NCT07199699 | Not specified | NOT_YET_RECRUITING | Subxiphoid VATS for Giant Mediastinal Teratoma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Lamb-Shaffer syndrome, teratoma