NAA16
geneOn this page
Also known as FLJ22054MGC40612PRO2435
Summary
NAA16 (N-alpha-acetyltransferase 16, NatA auxiliary subunit, HGNC:26164) is a protein-coding gene on chromosome 13q14.11, encoding N-alpha-acetyltransferase 16, NatA auxiliary subunit (Q6N069). Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity.
Enables ribosome binding activity. Involved in N-terminal protein amino acid acetylation; negative regulation of apoptotic process; and protein stabilization. Located in cytosol. Part of NatA complex.
Source: NCBI Gene 79612 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 127 total
- Druggable target: yes
- MANE Select transcript:
NM_024561
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26164 |
| Approved symbol | NAA16 |
| Name | N-alpha-acetyltransferase 16, NatA auxiliary subunit |
| Location | 13q14.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22054, MGC40612, PRO2435 |
| Ensembl gene | ENSG00000172766 |
| Ensembl biotype | protein_coding |
| OMIM | 619497 |
| Entrez | 79612 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding_CDS_not_defined, 3 protein_coding, 1 nonsense_mediated_decay
ENST00000379406, ENST00000403412, ENST00000463114, ENST00000464857, ENST00000469708, ENST00000476980, ENST00000477452, ENST00000483215, ENST00000495148, ENST00000497143, ENST00000497727, ENST00000931430
RefSeq mRNA: 3 — MANE Select: NM_024561
NM_001110798, NM_018527, NM_024561
CCDS: CCDS45044, CCDS9379
Canonical transcript exons
ENST00000379406 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001287560 | 41336650 | 41336756 |
| ENSE00001559903 | 41311267 | 41311582 |
| ENSE00001779271 | 41358304 | 41358473 |
| ENSE00003477104 | 41358810 | 41358962 |
| ENSE00003480167 | 41355144 | 41355216 |
| ENSE00003487465 | 41323056 | 41323190 |
| ENSE00003506885 | 41331274 | 41331369 |
| ENSE00003507156 | 41362031 | 41362159 |
| ENSE00003510305 | 41374742 | 41374839 |
| ENSE00003513264 | 41375405 | 41377030 |
| ENSE00003519412 | 41316846 | 41316930 |
| ENSE00003537013 | 41367439 | 41367652 |
| ENSE00003575368 | 41325698 | 41325851 |
| ENSE00003583901 | 41369090 | 41369283 |
| ENSE00003605982 | 41372732 | 41372830 |
| ENSE00003619284 | 41320667 | 41320824 |
| ENSE00003621795 | 41373637 | 41373780 |
| ENSE00003636453 | 41318806 | 41318910 |
| ENSE00003640880 | 41372203 | 41372311 |
| ENSE00003663916 | 41328724 | 41328843 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 95.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5799 / max 142.0891, expressed in 1761 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134837 | 11.3017 | 1740 |
| 134838 | 1.2714 | 634 |
| 134840 | 0.0068 | 3 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 95.73 | gold quality |
| sural nerve | UBERON:0015488 | 95.66 | gold quality |
| sperm | CL:0000019 | 93.72 | gold quality |
| male germ cell | CL:0000015 | 91.87 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.81 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.44 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.29 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.24 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.17 | gold quality |
| ventricular zone | UBERON:0003053 | 91.08 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 90.40 | gold quality |
| pancreas | UBERON:0001264 | 90.35 | gold quality |
| bone marrow | UBERON:0002371 | 90.25 | gold quality |
| pylorus | UBERON:0001166 | 90.15 | gold quality |
| corpus callosum | UBERON:0002336 | 90.12 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.89 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.80 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 89.80 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.77 | gold quality |
| cerebellum | UBERON:0002037 | 89.60 | gold quality |
| embryo | UBERON:0000922 | 89.56 | gold quality |
| skin of hip | UBERON:0001554 | 89.55 | gold quality |
| visceral pleura | UBERON:0002401 | 89.25 | gold quality |
| thymus | UBERON:0002370 | 89.23 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 89.12 | silver quality |
| bone marrow cell | CL:0002092 | 88.87 | gold quality |
| uterine cervix | UBERON:0000002 | 88.66 | gold quality |
| endocervix | UBERON:0000458 | 88.62 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.57 | gold quality |
| oviduct epithelium | UBERON:0004804 | 88.52 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.35 |
| E-MTAB-6379 | no | 1141.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting NAA16, 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-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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
Literature-anchored findings (GeneRIF, showing 1)
- hNaa16p (NARG1L) interacts with hNaa10p (hArd1) making a distinct ribosome associated human NatA N-terminal acetyltransferase complex. hNAA16 is expressed in a variety of human cell lines and specific knockdown of hNAA16 induces cell death. (PMID:19480662)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Naa16 | ENSMUSG00000022020 |
| rattus_norvegicus | Naa16 | ENSRNOG00000045863 |
| drosophila_melanogaster | Naa15-16 | FBGN0031020 |
| caenorhabditis_elegans | WBGENE00021754 |
Paralogs (2): NAA25 (ENSG00000111300), NAA15 (ENSG00000164134)
Protein
Protein identifiers
N-alpha-acetyltransferase 16, NatA auxiliary subunit — Q6N069 (reviewed: Q6N069)
Alternative names: NMDA receptor-regulated 1-like protein
All UniProt accessions (2): Q6N069, A4FU51
UniProt curated annotations — full annotation on UniProt →
Function. Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity.
Subunit / interactions. Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA10 and NAA16.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6N069-1 | 1 | yes |
| Q6N069-2 | 2, Long | |
| Q6N069-3 | 3 | |
| Q6N069-4 | 4, Short | |
| Q6N069-5 | 5 |
RefSeq proteins (3): NP_001104268, NP_060997, NP_078837* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR013105 | TPR_2 | Repeat |
| IPR019734 | TPR_rpt | Repeat |
| IPR021183 | NatA_aux_su | Family |
Pfam: PF07719, PF12569
UniProt features (19 total): splice variant 8, repeat 7, chain 1, sequence variant 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6N069-F1 | 89.49 | 0.79 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_STABILIZATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, MODULE_332, chr13q14, MULLIGHAN_MLL_SIGNATURE_2_DN, NUYTTEN_EZH2_TARGETS_DN, GOCC_TRANSFERASE_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_N_TERMINAL_PROTEIN_ACETYLTRANSFERASE_COMPLEX, VANHARANTA_UTERINE_FIBROID_WITH_7Q_DELETION_UP
GO Biological Process (5): positive regulation of DNA-templated transcription (GO:0045893), protein stabilization (GO:0050821), protein maturation (GO:0051604), N-terminal protein amino acid acetylation (GO:0006474), negative regulation of apoptotic process (GO:0043066)
GO Molecular Function (4): acetyltransferase activator activity (GO:0010698), ribosome binding (GO:0043022), protein binding (GO:0005515), acetyltransferase activity (GO:0016407)
GO Cellular Component (6): nucleus (GO:0005634), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), cytosol (GO:0005829), NatA complex (GO:0031415), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| regulation of protein stability | 1 |
| gene expression | 1 |
| protein metabolic process | 1 |
| protein acetylation | 1 |
| N-terminal protein amino acid modification | 1 |
| protein maturation | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| enzyme activator activity | 1 |
| acetyltransferase activity | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| N-terminal protein acetyltransferase complex | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1050 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAA16 | NAA10 | P41227 | 899 |
| NAA16 | NAA11 | Q9BSU3 | 870 |
| NAA16 | HYPK | Q9NX55 | 724 |
| NAA16 | NAA50 | Q9GZZ1 | 717 |
| NAA16 | NAA20 | P61599 | 646 |
| NAA16 | NAA30 | Q147X3 | 645 |
| NAA16 | NAA25 | Q14CX7 | 604 |
| NAA16 | NAA35 | Q5VZE5 | 589 |
| NAA16 | NAA40 | Q86UY6 | 585 |
| NAA16 | NAA60 | Q9H7X0 | 543 |
| NAA16 | VWA8 | A3KMH1 | 476 |
| NAA16 | TCEA1 | P23193 | 437 |
| NAA16 | SIRT1 | Q96EB6 | 406 |
| NAA16 | MTRF1 | O75570 | 392 |
| NAA16 | PROSER1 | Q86XN7 | 376 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAA15 | NAA10 | psi-mi:“MI:0914”(association) | 0.840 |
| NAA10 | NAA16 | psi-mi:“MI:0914”(association) | 0.710 |
| NAA10 | NAA16 | psi-mi:“MI:0915”(physical association) | 0.710 |
| HYPK | NAA10 | psi-mi:“MI:0914”(association) | 0.640 |
| NAA50 | NAA16 | psi-mi:“MI:0915”(physical association) | 0.620 |
| NAA11 | NAA16 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAA10 | OFD1 | psi-mi:“MI:0914”(association) | 0.480 |
| NAA16 | HNRNPU | psi-mi:“MI:0915”(physical association) | 0.400 |
| NAA16 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Naa10 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Naa10 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| Naa11 | psi-mi:“MI:0914”(association) | 0.350 | |
| Naa50 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS11 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| TSGA10IP | NAA10 | psi-mi:“MI:0914”(association) | 0.350 |
| HYPK | APOA1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR1 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
| ALPK2 | C2CD4B | psi-mi:“MI:0914”(association) | 0.350 |
| NAA11 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA15 | ARRB1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSGA10IP | BRCA2 | psi-mi:“MI:0914”(association) | 0.350 |
| HYPK | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA50 | VSIG8 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA10 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (53): NAA16 (Affinity Capture-MS), NAA16 (Co-fractionation), NAA16 (Co-fractionation), NAA16 (Co-fractionation), NAA16 (Co-fractionation), NAA16 (Co-fractionation), NAA16 (Affinity Capture-MS), NAA16 (Two-hybrid), NAA16 (Affinity Capture-MS), NAA16 (Affinity Capture-MS), NAA16 (Affinity Capture-MS), NAA16 (Affinity Capture-MS), NAA16 (Affinity Capture-MS), NAA16 (Affinity Capture-MS), NAA16 (Affinity Capture-MS)
ESM2 similar proteins: A0JN39, A8WGF4, B5DGH9, D2SW95, O00232, O60763, O95782, P17426, P23514, P41541, P53618, P91926, P93768, Q05AY2, Q0JNK5, Q1LUA8, Q29N38, Q2KJ25, Q3B8M3, Q3UGF1, Q4R4I8, Q53PC7, Q5R4J9, Q5R664, Q5R922, Q5RBI3, Q5VQ78, Q5XI83, Q5ZIA5, Q5ZLA5, Q66HV4, Q6DRI1, Q6H8D5, Q6H8D6, Q6N069, Q6NWV3, Q6P7L9, Q7QG73, Q80UM3, Q8BWQ6
Diamond homologs: O74985, P12945, Q5R4J9, Q6N069, Q80UM3, Q8VZM1, Q9BXJ9, Q9DBB4, Q9Y7X2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 111 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3778 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:41311578:TCTTG:T | donor_gain | 1.0000 |
| 13:41311583:G:GG | donor_gain | 1.0000 |
| 13:41311584:T:A | donor_loss | 1.0000 |
| 13:41316841:TACA:T | acceptor_loss | 1.0000 |
| 13:41316843:CA:C | acceptor_loss | 1.0000 |
| 13:41316844:A:AG | acceptor_gain | 1.0000 |
| 13:41316844:A:AT | acceptor_loss | 1.0000 |
| 13:41316845:G:GG | acceptor_gain | 1.0000 |
| 13:41316845:G:T | acceptor_loss | 1.0000 |
| 13:41316845:GA:G | acceptor_gain | 1.0000 |
| 13:41316845:GAA:G | acceptor_gain | 1.0000 |
| 13:41316845:GAAAT:G | acceptor_gain | 1.0000 |
| 13:41316926:TGGAG:T | donor_loss | 1.0000 |
| 13:41316928:G:GT | donor_gain | 1.0000 |
| 13:41316928:G:T | donor_gain | 1.0000 |
| 13:41316930:GGTAT:G | donor_loss | 1.0000 |
| 13:41316931:G:GA | donor_loss | 1.0000 |
| 13:41320818:TTACC:T | donor_gain | 1.0000 |
| 13:41320821:CCGA:C | donor_gain | 1.0000 |
| 13:41320822:CGAG:C | donor_loss | 1.0000 |
| 13:41320823:GA:G | donor_gain | 1.0000 |
| 13:41320824:AG:A | donor_loss | 1.0000 |
| 13:41320825:G:GG | donor_gain | 1.0000 |
| 13:41320825:GT:G | donor_loss | 1.0000 |
| 13:41320826:TAAGT:T | donor_loss | 1.0000 |
| 13:41320827:AA:A | donor_loss | 1.0000 |
| 13:41320828:AGTA:A | donor_loss | 1.0000 |
| 13:41323050:TTTTA:T | acceptor_loss | 1.0000 |
| 13:41323051:TTTA:T | acceptor_loss | 1.0000 |
| 13:41323053:TA:T | acceptor_loss | 1.0000 |
AlphaMissense
5774 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:41316876:G:C | G29R | 1.000 |
| 13:41316877:G:A | G29D | 1.000 |
| 13:41318815:C:A | A50D | 1.000 |
| 13:41318818:T:A | M51K | 1.000 |
| 13:41318823:G:A | G53R | 1.000 |
| 13:41318823:G:C | G53R | 1.000 |
| 13:41318824:G:A | G53E | 1.000 |
| 13:41318827:T:C | L54S | 1.000 |
| 13:41318872:T:A | V69D | 1.000 |
| 13:41318880:G:A | G72R | 1.000 |
| 13:41318880:G:C | G72R | 1.000 |
| 13:41318881:G:A | G72E | 1.000 |
| 13:41318884:T:C | L73P | 1.000 |
| 13:41320668:T:G | C82W | 1.000 |
| 13:41320669:T:A | W83R | 1.000 |
| 13:41320669:T:C | W83R | 1.000 |
| 13:41320672:C:G | H84D | 1.000 |
| 13:41320674:T:A | H84Q | 1.000 |
| 13:41320674:T:G | H84Q | 1.000 |
| 13:41320676:T:A | V85E | 1.000 |
| 13:41320681:G:A | G87R | 1.000 |
| 13:41320681:G:C | G87R | 1.000 |
| 13:41320682:G:A | G87E | 1.000 |
| 13:41320682:G:T | G87V | 1.000 |
| 13:41320685:T:C | L88P | 1.000 |
| 13:41320693:C:A | R91S | 1.000 |
| 13:41320694:G:C | R91P | 1.000 |
| 13:41320717:G:C | A99P | 1.000 |
| 13:41320718:C:A | A99D | 1.000 |
| 13:41320738:G:C | A106P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000027487 (13:41349193 A>G), RS1000059218 (13:41326428 A>C,G), RS1000075493 (13:41345268 C>A), RS1000104628 (13:41332891 A>G), RS1000136118 (13:41345860 C>A), RS1000299452 (13:41310368 G>A), RS1000326246 (13:41363500 G>A), RS1000515592 (13:41311812 A>C,G,T), RS1000628385 (13:41351023 G>A,C), RS1000691879 (13:41352498 T>C), RS1000706337 (13:41311482 G>C), RS1000709896 (13:41338779 A>G), RS1000711302 (13:41334218 A>G), RS1000735134 (13:41376289 GA>G,GAA,GAAAAAAAAAAA), RS1000774902 (13:41344785 A>G)
Disease associations
OMIM: gene MIM:619497 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006628_20 | Systolic blood pressure | 3.000000e-13 |
| GCST90013442_21 | Keratoconus | 6.000000e-35 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3430873 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Thimerosal | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Serpentine | increases methylation | 1 |
| Asbestos, Crocidolite | affects expression | 1 |
| Acrylamide | 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_SZ73 | HAP1 NAA16 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): keratoconus