HYKK
geneOn this page
Also known as LOC123688
Summary
HYKK (hydroxylysine kinase, HGNC:34403) is a protein-coding gene on chromosome 15q25.1, encoding Hydroxylysine kinase (A2RU49). Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.
Enables hydroxylysine kinase activity. Predicted to be involved in lysine catabolic process. Predicted to be located in mitochondrial matrix.
Source: NCBI Gene 123688 — RefSeq curated summary.
At a glance
- Gene–disease (curated): inborn disorder of lysine and hydroxylysine metabolism (Limited, GenCC)
- GWAS associations: 89
- Clinical variants (ClinVar): 52 total — 1 likely-pathogenic
- MANE Select transcript:
NM_001013619
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:34403 |
| Approved symbol | HYKK |
| Name | hydroxylysine kinase |
| Location | 15q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LOC123688 |
| Ensembl gene | ENSG00000188266 |
| Ensembl biotype | protein_coding |
| OMIM | 614681 |
| Entrez | 123688 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay
ENST00000388988, ENST00000408962, ENST00000563233, ENST00000566289, ENST00000566332, ENST00000569878
RefSeq mRNA: 2 — MANE Select: NM_001013619
NM_001013619, NM_001083612
CCDS: CCDS42063, CCDS45318
Canonical transcript exons
ENST00000388988 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003850008 | 78507577 | 78507671 |
| ENSE00003889673 | 78514968 | 78515107 |
| ENSE00003890136 | 78513084 | 78513425 |
| ENSE00003891720 | 78527380 | 78527563 |
| ENSE00003891889 | 78533210 | 78536645 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 84.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.5015 / max 44.3196, expressed in 1433 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147910 | 3.1499 | 1411 |
| 147911 | 0.2614 | 145 |
| 147909 | 0.0902 | 25 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 83.22 | gold quality |
| ileal mucosa | UBERON:0000331 | 80.09 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.05 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.30 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.58 | gold quality |
| tibialis anterior | UBERON:0001385 | 77.71 | silver quality |
| pancreatic ductal cell | CL:0002079 | 77.44 | silver quality |
| body of pancreas | UBERON:0001150 | 76.80 | gold quality |
| muscle of leg | UBERON:0001383 | 76.67 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.63 | gold quality |
| right ovary | UBERON:0002118 | 76.21 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 76.20 | gold quality |
| left ovary | UBERON:0002119 | 76.17 | gold quality |
| right coronary artery | UBERON:0001625 | 75.75 | gold quality |
| tibial artery | UBERON:0007610 | 75.65 | gold quality |
| popliteal artery | UBERON:0002250 | 75.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.54 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 75.32 | gold quality |
| right adrenal gland | UBERON:0001233 | 75.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 75.00 | gold quality |
| metanephros cortex | UBERON:0010533 | 75.00 | gold quality |
| aorta | UBERON:0000947 | 74.99 | gold quality |
| body of stomach | UBERON:0001161 | 74.93 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 74.91 | gold quality |
| tibial nerve | UBERON:0001323 | 74.89 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 74.88 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 74.82 | gold quality |
| ectocervix | UBERON:0012249 | 74.82 | gold quality |
| right atrium auricular region | UBERON:0006631 | 74.64 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.51 |
| E-MTAB-6386 | no | 70.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
161 targeting HYKK, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
Literature-anchored findings (GeneRIF, showing 5)
- Women with the variant AA genotype of CHRNA5 rs16969968 or variant CC genotype of LOC123688 rs8034191 were at significantly increased risk of heavy smoking. (PMID:21810735)
- AGPHD1 gene rs8034191-T allele might be a risk-conferring factor for the development of lung cancer in Caucasians, but not in East-Asians. (PMID:22701590)
- The variant rs8034191 in the AGPHD1 gene may not modify the genetic risk of lung cancer in Asian populations. (PMID:25074529)
- The association between AGPHD1 single nucleotide polymorphism rs8034191 and lung cancer risk was significant using multiple genetic models, suggesting that AGPHD1 single nucleotide polymorphism rs8034191 is a risk factor for lung cancer. (PMID:25854352)
- CHRNA3 rs1051730 (G > A) and AGPHD1 rs8034191 (A > G) were more susceptible to lung cancers than noncarriers. (PMID:27072204)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hykk.2 | ENSDARG00000074341 |
| danio_rerio | hykk.1 | ENSDARG00000077610 |
| mus_musculus | Hykk | ENSMUSG00000035878 |
| rattus_norvegicus | Hykk | ENSRNOG00000013419 |
| drosophila_melanogaster | CG31751 | FBGN0086909 |
Protein
Protein identifiers
Hydroxylysine kinase — A2RU49 (reviewed: A2RU49)
Alternative names: Aminoglycoside phosphotransferase domain-containing protein 1
All UniProt accessions (2): A0A0C4DGM4, A2RU49
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.
Subcellular location. Cytoplasm.
Similarity. Belongs to the aminoglycoside phosphotransferase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A2RU49-1 | 1 | yes |
| A2RU49-2 | 2 | |
| A2RU49-3 | 3 |
RefSeq proteins (2): NP_001013641, NP_001077081 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002575 | Aminoglycoside_PTrfase | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR050249 | Pseudomonas-type_ThrB | Family |
Pfam: PF01636
Enzyme classification (BRENDA):
- EC 2.7.1.81 — hydroxylysine kinase (BRENDA: 9 organisms, 9 substrates, 21 inhibitors, 7 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 5-HYDROXY-L-LYSINE | 0.0076–0.28 | 2 |
| 5-HYDROXY-LYSINE | 0.0238 | 1 |
| ALLOHYDROXY-L-LYSINE | 0.0062 | 1 |
| ATP | 0.81 | 1 |
| GTP | 0.0035 | 1 |
| HYDROXY-L-LYSINE | 0.0056 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- (5R)-5-hydroxy-L-lysine + GTP = (5R)-5-phosphooxy-L-lysine + GDP + H(+) (RHEA:19049)
UniProt features (6 total): splice variant 3, chain 1, active site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A2RU49-F1 | 93.89 | 0.89 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 226 (proton acceptor)
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-71064 | Lysine catabolism |
MSigDB gene sets: 78 (showing top):
GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_AMINO_ACID_CATABOLIC_PROCESS, GOCC_MITOCHONDRIAL_MATRIX, GOMF_KINASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, OHGUCHI_LIVER_HNF4A_TARGETS_DN, DURAND_STROMA_S_UP, REACTOME_LYSINE_CATABOLISM, GOBP_LYSINE_METABOLIC_PROCESS, ARNT2_TARGET_GENES, FEV_TARGET_GENES, GLI3_TARGET_GENES
GO Biological Process (1): obsolete lysine catabolic process (GO:0006554)
GO Molecular Function (5): amino acid kinase activity (GO:0019202), hydroxylysine kinase activity (GO:0047992), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (2): mitochondrial matrix (GO:0005759), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| amino acid kinase activity | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1573 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HYKK | CHRNA3 | P32297 | 784 |
| HYKK | CHRNA5 | P30532 | 728 |
| HYKK | PSMA4 | P25789 | 704 |
| HYKK | CHRNB4 | P30926 | 700 |
| HYKK | IREB2 | P48200 | 649 |
| HYKK | CLPTM1L | Q96KA5 | 551 |
| HYKK | PHYKPL | Q8IUZ5 | 494 |
| HYKK | RAB4B | P22750 | 488 |
| HYKK | L3HYPDH | Q96EM0 | 456 |
| HYKK | CHST12 | Q9NRB3 | 449 |
| HYKK | FAM13A | O94988 | 447 |
| HYKK | NAA20 | P61599 | 442 |
| HYKK | ADAMTS7 | Q9UKP4 | 433 |
| HYKK | SEC14L5 | O43304 | 420 |
| HYKK | CYP2A6 | P00190 | 420 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HYKK | EIF3B | psi-mi:“MI:0915”(physical association) | 0.400 |
| HYKK | DDB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GYPA | HYKK | psi-mi:“MI:0914”(association) | 0.350 |
| LAGE3 | HYKK | psi-mi:“MI:0914”(association) | 0.350 |
| OSGEP | HYKK | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): HYKK (Two-hybrid), HYKK (Two-hybrid), HYKK (Affinity Capture-MS), HYKK (Affinity Capture-MS), HYKK (Affinity Capture-RNA), HYKK (Two-hybrid), LAGE3 (Two-hybrid), EIF3B (Proximity Label-MS), DDB2 (Proximity Label-MS), HYKK (Affinity Capture-MS), HYKK (Affinity Capture-MS), HYKK (Affinity Capture-MS), EIF3B (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A1J6KGJ9, A0A314KSQ4, A2RU49, A4IF87, A5PJU6, B4G0F3, B8BKI7, B9SQI7, C6JS30, E0CSI1, E0CTF3, G1SPE9, O08848, O15228, O22190, O23732, O43929, O82333, O88708, P11172, P31531, P37821, P42700, P46416, Q05B63, Q10D00, Q28DB5, Q2R483, Q2YDI2, Q3T067, Q3U1V6, Q4U3P8, Q5R514, Q5R6Z7, Q5R962, Q6GM82, Q6I581, Q6YJI5, Q7TNK6, Q7Z4G4
Diamond homologs: A2RU49, A5PJU6, A8WFT6, Q5U5V2, Q6PB06
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 36 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3336640 | NM_001013619.4(HYKK):c.337+256T>C | Likely pathogenic |
SpliceAI
744 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:78513421:TGTAG:T | donor_loss | 1.0000 |
| 15:78513425:GGTA:G | donor_loss | 1.0000 |
| 15:78513426:GTAA:G | donor_loss | 1.0000 |
| 15:78514967:GATA:G | acceptor_gain | 1.0000 |
| 15:78515104:GCAG:G | donor_gain | 1.0000 |
| 15:78515105:CAGGT:C | donor_loss | 1.0000 |
| 15:78515106:AGGTA:A | donor_loss | 1.0000 |
| 15:78515107:GGT:G | donor_loss | 1.0000 |
| 15:78515108:GT:G | donor_loss | 1.0000 |
| 15:78515109:T:G | donor_loss | 1.0000 |
| 15:78527378:A:AG | acceptor_gain | 1.0000 |
| 15:78527379:G:GG | acceptor_gain | 1.0000 |
| 15:78527379:GA:G | acceptor_gain | 1.0000 |
| 15:78527530:G:GT | donor_gain | 1.0000 |
| 15:78527559:AGAAT:A | donor_gain | 1.0000 |
| 15:78527560:GAAT:G | donor_gain | 1.0000 |
| 15:78527560:GAATG:G | donor_gain | 1.0000 |
| 15:78527561:AAT:A | donor_gain | 1.0000 |
| 15:78527562:AT:A | donor_gain | 1.0000 |
| 15:78527562:ATGT:A | donor_loss | 1.0000 |
| 15:78527564:G:GC | donor_loss | 1.0000 |
| 15:78527564:G:GG | donor_gain | 1.0000 |
| 15:78527565:TGA:T | donor_loss | 1.0000 |
| 15:78527566:G:GC | donor_loss | 1.0000 |
| 15:78527567:AG:A | donor_loss | 1.0000 |
| 15:78507654:G:GT | donor_gain | 0.9900 |
| 15:78507720:G:GT | donor_gain | 0.9900 |
| 15:78513247:A:AG | acceptor_gain | 0.9900 |
| 15:78513248:A:G | acceptor_gain | 0.9900 |
| 15:78513422:GTAG:G | donor_gain | 0.9900 |
AlphaMissense
2467 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:78513212:A:C | S42R | 0.992 |
| 15:78513214:C:A | S42R | 0.992 |
| 15:78513214:C:G | S42R | 0.992 |
| 15:78533307:C:A | D253E | 0.992 |
| 15:78533307:C:G | D253E | 0.992 |
| 15:78527428:T:A | W176R | 0.990 |
| 15:78527428:T:C | W176R | 0.990 |
| 15:78533225:A:T | D226V | 0.990 |
| 15:78533306:A:T | D253V | 0.990 |
| 15:78533483:G:C | R312P | 0.990 |
| 15:78533225:A:C | D226A | 0.988 |
| 15:78533226:T:A | D226E | 0.988 |
| 15:78533226:T:G | D226E | 0.988 |
| 15:78513279:T:C | L64P | 0.987 |
| 15:78513283:A:C | K65N | 0.987 |
| 15:78513283:A:T | K65N | 0.987 |
| 15:78533225:A:G | D226G | 0.987 |
| 15:78533241:T:A | N231K | 0.987 |
| 15:78533241:T:G | N231K | 0.987 |
| 15:78533408:T:A | V287D | 0.987 |
| 15:78533419:T:C | F291L | 0.987 |
| 15:78533421:T:A | F291L | 0.987 |
| 15:78533421:T:G | F291L | 0.987 |
| 15:78533482:C:A | R312S | 0.987 |
| 15:78513229:C:A | N47K | 0.986 |
| 15:78513229:C:G | N47K | 0.986 |
| 15:78533479:A:C | S311R | 0.986 |
| 15:78533481:T:A | S311R | 0.986 |
| 15:78533481:T:G | S311R | 0.986 |
| 15:78513285:T:A | I66K | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000075156 (15:78512078 A>G), RS1000193566 (15:78522813 A>T), RS1000204834 (15:78507668 G>C), RS1000222910 (15:78522428 G>A), RS1000347785 (15:78528883 A>C,G), RS1000363119 (15:78525497 T>G), RS1000461836 (15:78534904 A>G,T), RS1000600403 (15:78515422 A>G), RS1000892249 (15:78512312 C>T), RS1000965250 (15:78511869 A>G), RS1001350905 (15:78533891 G>A,T), RS1001398186 (15:78511212 G>A), RS1001407881 (15:78526295 C>T), RS1001477828 (15:78518440 G>A,T), RS1001526365 (15:78517374 A>C)
Disease associations
OMIM: gene MIM:614681 | disease phenotypes: MIM:606963
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| inborn disorder of lysine and hydroxylysine metabolism | Limited | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| inborn disorder of lysine and hydroxylysine metabolism | No Known Disease Relationship | UD |
Mondo (2): chronic obstructive pulmonary disease (MONDO:0005002), inborn disorder of lysine and hydroxylysine metabolism (MONDO:0017351)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
89 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000170_1 | Lung cancer | 5.000000e-20 |
| GCST000172_1 | Lung cancer | 3.000000e-18 |
| GCST000233_1 | Lung cancer | 1.000000e-08 |
| GCST000359_1 | Chronic obstructive pulmonary disease | 1.000000e-10 |
| GCST001112_11 | Lifetime average cigarettes per day in chronic obstructive pulmonary disease | 1.000000e-07 |
| GCST001621_21 | Airflow obstruction | 3.000000e-09 |
| GCST002525_11 | Local histogram emphysema pattern | 2.000000e-10 |
| GCST002525_23 | Local histogram emphysema pattern | 1.000000e-12 |
| GCST002525_25 | Local histogram emphysema pattern | 1.000000e-07 |
| GCST002525_9 | Local histogram emphysema pattern | 2.000000e-13 |
| GCST002539_77 | Schizophrenia | 2.000000e-13 |
| GCST002625_6 | Chronic bronchitis and chronic obstructive pulmonary disease | 3.000000e-06 |
| GCST002625_8 | Chronic bronchitis and chronic obstructive pulmonary disease | 2.000000e-08 |
| GCST002734_1 | Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction) | 6.000000e-08 |
| GCST002797_1 | Pulmonary artery enlargement in chronic obstructive pulmonary disease | 2.000000e-08 |
| GCST002798_1 | Pulmonary artery enlargement and chronic obstructive pulmonary disease | 7.000000e-10 |
| GCST002945_11 | Emphysema imaging phenotypes | 1.000000e-06 |
| GCST002945_40 | Emphysema imaging phenotypes | 6.000000e-07 |
| GCST003262_127 | Post bronchodilator FEV1 | 2.000000e-11 |
| GCST003262_130 | Post bronchodilator FEV1 | 7.000000e-09 |
| GCST003262_150 | Post bronchodilator FEV1 | 6.000000e-12 |
| GCST003262_16 | Post bronchodilator FEV1 | 3.000000e-09 |
| GCST003262_18 | Post bronchodilator FEV1 | 5.000000e-09 |
| GCST003262_186 | Post bronchodilator FEV1 | 2.000000e-08 |
| GCST003262_30 | Post bronchodilator FEV1 | 1.000000e-06 |
| GCST003262_421 | Post bronchodilator FEV1 | 7.000000e-09 |
| GCST003262_427 | Post bronchodilator FEV1 | 2.000000e-14 |
| GCST003262_437 | Post bronchodilator FEV1 | 1.000000e-13 |
| GCST003262_50 | Post bronchodilator FEV1 | 1.000000e-06 |
| GCST003262_55 | Post bronchodilator FEV1 | 2.000000e-07 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0005850 | emphysema pattern measurement |
| EFO:0006527 | smoking status measurement |
| EFO:0006347 | pulmonary artery enlargement |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0009115 | tobacco smoke exposure measurement |
| EFO:0006525 | cigarettes per day measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D029424 | Pulmonary Disease, Chronic Obstructive | C08.381.495.389; C23.550.291.500.875 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs7164594 | Efficacy | 3 | varenicline | Tobacco Use Disorder |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs8034191 | HYKK | 0.00 | 0 | ||
| rs7164594 | HYKK | 3 | 2.75 | 1 | varenicline |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, increases mutagenesis | 2 |
| Nickel | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| abrine | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00120978 | PHASE4 | UNKNOWN | Can Advair and Flovent Reduce Systemic Inflammation Related to Chronic Obstructive Pulmonary Disease (COPD)? A Multi-Center Randomized Controlled Trial |
| NCT00134979 | PHASE4 | COMPLETED | Formoterol Certihaler, Tiotropium HandiHaler and Tiotropium HandiHaler in Combination With Formoterol Certihaler in Patients With Stable Chronic Obstructive Pulmonary Disease |
| NCT00158847 | PHASE4 | TERMINATED | Modification Of Disease Outcome In COPD |
| NCT00170222 | PHASE4 | COMPLETED | Placebo Versus Antibiotics in Acute Exacerbations of Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00175565 | PHASE4 | COMPLETED | Inhaled Steroid Reduces Systemic Inflammation in COPD |
| NCT00181207 | PHASE4 | COMPLETED | Airway Clearance for Prevention of Chronic Obstructive Pulmonary Disease (COPD) Exacerbation |
| NCT00186706 | PHASE4 | COMPLETED | Selenium Supplementation in Chronic Obstructive Pulmonary Disease (COPD) Patients |
| NCT00190437 | PHASE4 | COMPLETED | ANTEAB: a Study of Early Antibiotherapy in the ICU Management of Acute Exacerbations of COPD |
| NCT00202176 | PHASE4 | COMPLETED | Effects of Bronchodilators in Mild Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00202189 | PHASE4 | COMPLETED | Effects of Inhaled Corticosteroids in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00232674 | PHASE4 | COMPLETED | Efficacy Study of the Effect of Budesonide on Emphysema |
| NCT00288548 | PHASE4 | UNKNOWN | Metoprolol and Formoterol in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00291408 | PHASE4 | WITHDRAWN | Effect of Symbicort on HAT and HDAC in Sputum Macrophages of COPD |
| NCT00291460 | PHASE4 | UNKNOWN | Inspiratory Muscle Training in Hypercapnic COPD |
| NCT00292838 | PHASE4 | COMPLETED | Relative Potency of Inhaled Corticosteroids |
| NCT00311961 | PHASE4 | COMPLETED | Intravenous Versus Oral Administration of Prednisolone in Exacerbations of Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00316992 | PHASE4 | COMPLETED | Safety of Ramelteon in Subjects With Chronic Obstructive Pulmonary Disease |
| NCT00331656 | PHASE4 | UNKNOWN | Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. |
| NCT00335621 | PHASE4 | WITHDRAWN | Replacement of Nebulised Ipratropium With Inhaled Tiotropium in Stable Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00354354 | PHASE4 | COMPLETED | Bronchodilators and Oxygen Kinetics With Exercise in Chronic Obstructive Pulmonary Disease (COPD) Patients |
| NCT00379028 | PHASE4 | COMPLETED | Airway Clearance Study |
| NCT00405236 | PHASE4 | COMPLETED | Effect of Tiotropium on Inflammation and Exacerbations in COPD |
| NCT00412204 | PHASE4 | COMPLETED | Study to Evaluate the Effects of Tiotropium Bromide on Chronic Obstructive Pulmonary Disease (COPD) During Exercise |
| NCT00424528 | PHASE4 | COMPLETED | Efficacy Safety Study of Arformoterol/Tiotropium Combination Versus Either Therapy Alone in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00440245 | PHASE4 | COMPLETED | Bronchoprotection of Salbutamol in Asthma and Chronic Obstructive Pulmonary Disease |
| NCT00440687 | PHASE4 | COMPLETED | Withdrawal of Inhaled Corticosteroids in Patients With COPD in Primary Care |
| NCT00489853 | PHASE4 | COMPLETED | Evaluation of Efficacy on Exercise Tolerance of Symbicort (Budesonide/Formoterol) Compared to Placebo and Oxis in Patients With Severe COPD |
| NCT00491803 | PHASE4 | COMPLETED | Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) |
| NCT00495586 | PHASE4 | COMPLETED | Effectiveness of Antibiotic Therapy for Exacerbations of Chronic Obstructive Pulmonary Disease |
| NCT00525564 | PHASE4 | COMPLETED | Effects of Salmeterol on Walking Capacity in Patients With COPD |
| NCT00532584 | PHASE4 | WITHDRAWN | Effect of Steroids on Gene Expression in the Healthy Smokers Lungs |
| NCT00542880 | PHASE4 | COMPLETED | Evaluation of Onset of Effect in Patients With Severe Chronic Obstructive Pulmonary Disease (COPD) Treated With Symbicort® Compared to Seretide® |
| NCT00561886 | PHASE4 | COMPLETED | Change of Inspiratory Peak Flow in COPD |
| NCT00569270 | PHASE4 | COMPLETED | Dynamic Hyperinflation and Tiotropium |
| NCT00571428 | PHASE4 | COMPLETED | Efficacy Safety Study of Arformoterol QD Dosing Versus BID Dosing in COPD |
| NCT00578968 | PHASE4 | COMPLETED | Cardiac Limitations in Chronic Obstructive Pulmonary Disease: Benefits of Bronchodilation |
| NCT00592033 | PHASE4 | COMPLETED | Effect of Oxygen in Normoxaemic COPD Patients Who Desaturate During Exercise |
| NCT00628225 | PHASE4 | COMPLETED | Smoking Cessation in Patients With COPD (SMOCC) in General Practice |
| NCT00633776 | PHASE4 | WITHDRAWN | Perforomist Versus Foradil Evaluated by Inspiratory Capacity and High Resolution Computed Tomography (HRCT) |
| NCT00639236 | PHASE4 | COMPLETED | Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease |
Related Atlas pages
- Associated diseases: inborn disorder of lysine and hydroxylysine metabolism
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic bronchitis, chronic obstructive pulmonary disease, inborn disorder of lysine and hydroxylysine metabolism, nicotine dependence