NAA80
gene geneOn this page
Also known as FUS2
Summary
NAA80 (N-alpha-acetyltransferase 80, NatH catalytic subunit, HGNC:30252) is a protein-coding gene on chromosome 3p21.31, encoding N-alpha-acetyltransferase 80 (Q93015). N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively).
This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon.
Source: NCBI Gene 24142 — RefSeq curated summary.
At a glance
- Gene–disease (curated): auroneurodental syndrome (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 2 total
- Phenotypes (HPO): 29
- MANE Select transcript:
NM_001200016
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30252 |
| Approved symbol | NAA80 |
| Name | N-alpha-acetyltransferase 80, NatH catalytic subunit |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FUS2 |
| Ensembl gene | ENSG00000243477 |
| Ensembl biotype | protein_coding |
| OMIM | 607073 |
| Entrez | 24142 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 9 protein_coding
ENST00000354862, ENST00000417393, ENST00000442620, ENST00000443094, ENST00000443842, ENST00000450489, ENST00000452674, ENST00000885805, ENST00000919720
RefSeq mRNA: 3 — MANE Select: NM_001200016
NM_001200016, NM_001200018, NM_012191
CCDS: CCDS43095, CCDS56258
Canonical transcript exons
ENST00000443094 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001400484 | 50299213 | 50299405 |
| ENSE00001710718 | 50296402 | 50297672 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 94.04.
FANTOM5 (CAGE): breadth broad, TPM avg 0.6918 / max 25.0367, expressed in 408 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42308 | 9.0812 | 1779 |
| 42309 | 4.0640 | 1638 |
| 42306 | 3.1356 | 1095 |
| 42307 | 0.6228 | 358 |
| 42305 | 0.0690 | 18 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 94.04 | gold quality |
| right testis | UBERON:0004534 | 93.76 | gold quality |
| testis | UBERON:0000473 | 91.00 | gold quality |
| apex of heart | UBERON:0002098 | 88.51 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.33 | gold quality |
| granulocyte | CL:0000094 | 87.61 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.92 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.77 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.37 | gold quality |
| body of stomach | UBERON:0001161 | 85.81 | gold quality |
| right lung | UBERON:0002167 | 85.61 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.58 | gold quality |
| skin of leg | UBERON:0001511 | 85.39 | gold quality |
| sperm | CL:0000019 | 85.34 | silver quality |
| left ovary | UBERON:0002119 | 84.99 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.77 | gold quality |
| ectocervix | UBERON:0012249 | 84.72 | gold quality |
| right ovary | UBERON:0002118 | 84.65 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.63 | gold quality |
| tibial nerve | UBERON:0001323 | 84.36 | gold quality |
| left uterine tube | UBERON:0001303 | 84.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.31 | gold quality |
| cerebellum | UBERON:0002037 | 84.24 | gold quality |
| body of uterus | UBERON:0009853 | 84.02 | gold quality |
| male germ cell | CL:0000015 | 83.99 | silver quality |
| metanephros cortex | UBERON:0010533 | 83.94 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 83.78 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.75 | gold quality |
| right coronary artery | UBERON:0001625 | 83.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 56.06 |
| E-ANND-3 | no | 2.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting NAA80, 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-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-1199-5P | 98.44 | 66.51 | 829 |
| HSA-MIR-6751-3P | 98.44 | 66.35 | 835 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-6085 | 96.57 | 64.11 | 621 |
| HSA-MIR-1915-5P | 95.25 | 65.78 | 571 |
| HSA-MIR-6813-5P | 94.68 | 64.20 | 588 |
| HSA-MIR-6775-5P | 92.43 | 61.00 | 132 |
Literature-anchored findings (GeneRIF, showing 11)
- Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3. (PMID:11929860)
- newly identified polymorphism leads to a non-conservative amino acid change (R222W) located between the acetyltransferase and the proline-rich domains; analysis suggests no likely association between nasopharyngeal cancer and the FUS2 gene polymorphism (PMID:15036368)
- NAT6/FUS-2 is the N-alpha acetyltransferase 80 (NAA80/NatH) acting post-translationally and specifically on processed animal actins. This NAA80 mediated actin N-terminal acetylation is crucial for actin polymerization and depolymerization, and regulates the actin cytoskeleton and cell motility. (PMID:29581253)
- the results demonstrate NAA80’s role as actin’s NAT and reveal a crucial role for actin Nt-acetylation in the control of cytoskeleton structure and dynamics. (PMID:29581253)
- NAA80/NatH is dedicated to the post-translational N-terminal acetylation of processed actins. The structure of NAA80 reveals features like a positively charged catalytic groove perfectly suited to bind the acidic actin N-terminus. A cellular factor restricting NAA80 to processed actins is NatB, which co-translationally acetylates all cellular Met-starting N-termini with acidic amino acids at the second position. (PMID:29581307)
- this study reveals the molecular and cellular basis of NAA80 Nt acetylation and provides a scaffold for development of inhibitors for the regulation of cytoskeletal properties. (PMID:29581307)
- findings reveal that NAT6 plays a critical role in the maturation of actins by carrying out the acetylation of their N-terminal acidic residue (PMID:30028079)
- N-terminal acetylation of actin by NAA80 is essential for structural integrity of the Golgi apparatus. (PMID:32209306)
- PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin. (PMID:32978259)
- The Final Maturation State of beta-actin Involves N-terminal Acetylation by NAA80, not N-terminal Arginylation by ATE1. (PMID:34896361)
- N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis. (PMID:38189249)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | naa80 | ENSDARG00000068590 |
| mus_musculus | Naa80 | ENSMUSG00000079334 |
| rattus_norvegicus | Naa80 | ENSRNOG00000054063 |
| drosophila_melanogaster | Naa80 | FBGN0037747 |
| caenorhabditis_elegans | WBGENE00016983 |
Protein
Protein identifiers
N-alpha-acetyltransferase 80 — Q93015 (reviewed: Q93015)
Alternative names: N-acetyltransferase 6, Protein fusion-2
All UniProt accessions (5): A0A1D5RMQ1, C9J451, C9JL88, Q6IAP1, Q93015
UniProt curated annotations — full annotation on UniProt →
Function. N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively). N-terminal acetylation of processed beta- and gamma-actin regulates actin filament depolymerization and elongation. In vivo, preferentially displays N-terminal acetyltransferase activity towards acid N-terminal sequences starting with Asp-Asp-Asp and Glu-Glu-Glu. In vitro, shows high activity towards Met-Asp-Glu-Leu and Met-Asp-Asp-Asp. May act as a tumor suppressor.
Subcellular location. Cytoplasm. Cytosol.
Tissue specificity. Strongly expressed in heart and skeletal muscle, followed by brain and pancreas, with weak expression in kidney, liver, and lung and no expression in placenta.
Disease relevance. Auroneurodental syndrome (ANDS) [MIM:620830] An autosomal recessive syndrome characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphism, developmental delay and mild proximal and axial muscle weakness. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the acetyltransferase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q93015-1 | 1 | yes |
| Q93015-2 | 2 |
RefSeq proteins (3): NP_001186945, NP_001186947, NP_036323 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000182 | GNAT_dom | Domain |
| IPR016181 | Acyl_CoA_acyltransferase | Homologous_superfamily |
| IPR039840 | NAA80 | Family |
Pfam: PF00583
Enzyme classification (BRENDA):
- EC 2.3.1.B44 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
Catalyzed reactions (Rhea), 2 shown:
- N-terminal L-glutamyl-L-glutamyl-L-glutamyl-[protein] + acetyl-CoA = N-terminal N-acetyl-L-glutamyl-L-glutamyl-L-glutamyl-[protein] + CoA + H(+) (RHEA:57324)
- N-terminal L-aspartyl-L-aspartyl-L-aspartyl-[protein] + acetyl-CoA = N-terminal N-acetyl-L-aspartyl-L-aspartyl-L-aspartyl-[protein] + CoA + H(+) (RHEA:57328)
UniProt features (33 total): helix 8, strand 7, binding site 5, mutagenesis site 4, sequence variant 3, region of interest 2, chain 1, domain 1, splice variant 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6NBE | X-RAY DIFFRACTION | 2 |
| 6NBW | X-RAY DIFFRACTION | 2.5 |
| 6NAS | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q93015-F1 | 75.62 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 85; 90–93; 141–143; 149–154; 179
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 83 | in naa80mut; abolished acetyltransferase activity; when associated with q-148, d-151 and f-183. |
| 148 | in naa80mut; abolished acetyltransferase activity; when associated with f-83, d-151 and f-183. |
| 151 | in naa80mut; abolished acetyltransferase activity; when associated with f-83, q-148 and f-183. |
| 183 | in naa80mut; abolished acetyltransferase activity; when associated with f-83, q-148 and d-151. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 191 (showing top):
GOBP_N_TERMINAL_PROTEIN_AMINO_ACID_ACETYLATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, RICKMAN_METASTASIS_DN, GOBP_PROTEIN_MATURATION, JAZAG_TGFB1_SIGNALING_DN, GOBP_PROTEIN_ACETYLATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, ARGGGTTAA_UNKNOWN, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, LEE_CALORIE_RESTRICTION_NEOCORTEX_UP, GOBP_PROTEIN_ACYLATION
GO Biological Process (5): protein acetylation (GO:0006473), regulation of actin polymerization or depolymerization (GO:0008064), N-terminal peptidyl-aspartic acid acetylation (GO:0017190), N-terminal peptidyl-glutamic acid acetylation (GO:0018002), actin modification (GO:0030047)
GO Molecular Function (7): protein-N-terminal amino-acid acetyltransferase activity (GO:0004596), N-acetyltransferase activity (GO:0008080), acetyl-CoA binding (GO:1905502), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| N-terminal protein amino acid acetylation | 2 |
| cellular anatomical structure | 2 |
| protein acylation | 1 |
| actin polymerization or depolymerization | 1 |
| regulation of actin filament length | 1 |
| regulation of actin filament organization | 1 |
| peptidyl-aspartic acid modification | 1 |
| peptidyl-glutamic acid modification | 1 |
| actin cytoskeleton organization | 1 |
| protein modification process | 1 |
| protein N-acetyltransferase activity | 1 |
| acetyltransferase activity | 1 |
| acyl-CoA binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| acyltransferase activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
246 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAA80 | GLYATL1 | Q969I3 | 873 |
| NAA80 | NAA60 | Q9H7X0 | 824 |
| NAA80 | NAA40 | Q86UY6 | 794 |
| NAA80 | NAA10 | P41227 | 774 |
| NAA80 | ESCO1 | Q5FWF5 | 728 |
| NAA80 | ESCO2 | Q56NI9 | 726 |
| NAA80 | NAA15 | Q9BXJ9 | 690 |
| NAA80 | NAA20 | P61599 | 644 |
| NAA80 | NAA30 | Q147X3 | 598 |
| NAA80 | ATE1 | O95260 | 585 |
| NAA80 | NAA50 | Q9GZZ1 | 574 |
| NAA80 | HYPK | Q9NX55 | 489 |
| NAA80 | ACTG1 | P02571 | 435 |
| NAA80 | FUS | P35637 | 418 |
| NAA80 | NAA35 | Q5VZE5 | 396 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PFN2 | DIAPH1 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA80 | PFN1 | psi-mi:“MI:0914”(association) | 0.350 |
| EMG1 | NAA80 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): NAT6 (Affinity Capture-MS), NAT6 (Two-hybrid), NAT6 (Two-hybrid), NAT6 (Two-hybrid), ACTA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), NAT6 (Affinity Capture-MS), BACH2 (Affinity Capture-MS), PFN1 (Affinity Capture-MS), POTEKP (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTB (Affinity Capture-MS), NAT6 (Proximity Label-MS), NAT6 (Proximity Label-MS), NAT6 (Proximity Label-MS)
ESM2 similar proteins: A0JPN4, A2A8U2, A6QQD2, A7UA95, B0BM95, B0V3H4, E2RDP2, F1MLB4, J3QPC3, O15040, O94983, O95382, Q0QWG9, Q3U3N6, Q3U5Q7, Q3UYV8, Q400C9, Q400G9, Q5BKX5, Q5T7N3, Q60943, Q684M2, Q69ZT1, Q80Y50, Q86V42, Q86XL3, Q8BVF9, Q8C0R7, Q8CC12, Q8IWY9, Q8N9W5, Q8R2K4, Q91WA6, Q91XB0, Q924T7, Q93015, Q95K25, Q969H4, Q96EP0, Q96F46
Diamond homologs: Q59DX8, Q93015, Q9R123
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
658 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:50299211:A:AC | donor_gain | 1.0000 |
| 3:50299212:C:CC | donor_gain | 1.0000 |
| 3:50299207:A:AC | donor_gain | 0.9900 |
| 3:50299208:C:CC | donor_gain | 0.9900 |
| 3:50296892:CCCAG:C | donor_gain | 0.9800 |
| 3:50299212:CATG:C | donor_gain | 0.9800 |
| 3:50299212:CA:C | donor_gain | 0.9700 |
| 3:50299061:T:TA | donor_gain | 0.9600 |
| 3:50299204:GGTAC:G | donor_loss | 0.9600 |
| 3:50299207:ACT:A | donor_loss | 0.9600 |
| 3:50299208:CTG:C | donor_loss | 0.9600 |
| 3:50299209:TGACA:T | donor_loss | 0.9600 |
| 3:50299210:GA:G | donor_loss | 0.9600 |
| 3:50299211:A:AT | donor_loss | 0.9600 |
| 3:50299212:C:A | donor_loss | 0.9600 |
| 3:50299205:GTACT:G | donor_loss | 0.9500 |
| 3:50299206:TAC:T | donor_loss | 0.9500 |
| 3:50299208:CTGA:C | donor_gain | 0.9500 |
| 3:50299210:GACA:G | donor_loss | 0.9500 |
| 3:50299211:A:C | donor_loss | 0.9500 |
| 3:50299267:T:TA | donor_gain | 0.9500 |
| 3:50299271:A:AC | donor_gain | 0.9500 |
| 3:50299272:C:CC | donor_gain | 0.9500 |
| 3:50296896:G:C | donor_gain | 0.9400 |
| 3:50297673:C:CC | acceptor_gain | 0.9400 |
| 3:50297671:TCCTG:T | acceptor_loss | 0.9300 |
| 3:50297673:C:CA | acceptor_loss | 0.9300 |
| 3:50297674:T:G | acceptor_loss | 0.9300 |
| 3:50299225:G:A | donor_gain | 0.9300 |
| 3:50297670:CTC:C | acceptor_gain | 0.9200 |
AlphaMissense
1807 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:50296918:G:C | F182L | 0.994 |
| 3:50296918:G:T | F182L | 0.994 |
| 3:50296920:A:G | F182L | 0.994 |
| 3:50297215:C:A | W83C | 0.994 |
| 3:50297215:C:G | W83C | 0.994 |
| 3:50297217:A:G | W83R | 0.993 |
| 3:50297217:A:T | W83R | 0.993 |
| 3:50296973:G:T | A164D | 0.992 |
| 3:50297093:G:T | A124D | 0.992 |
| 3:50296919:A:G | F182S | 0.990 |
| 3:50296957:G:C | F169L | 0.990 |
| 3:50296957:G:T | F169L | 0.990 |
| 3:50296959:A:G | F169L | 0.990 |
| 3:50297196:G:T | R90S | 0.989 |
| 3:50297057:A:T | L136H | 0.988 |
| 3:50296901:T:G | Y188S | 0.987 |
| 3:50296943:A:G | L174P | 0.987 |
| 3:50297094:C:G | A124P | 0.987 |
| 3:50296902:A:C | Y188D | 0.986 |
| 3:50297097:G:C | H123D | 0.985 |
| 3:50296613:T:A | K284I | 0.983 |
| 3:50296997:A:T | L156H | 0.983 |
| 3:50297099:C:T | G122D | 0.983 |
| 3:50297161:G:C | F101L | 0.983 |
| 3:50297161:G:T | F101L | 0.983 |
| 3:50297163:A:G | F101L | 0.983 |
| 3:50297006:C:T | G153D | 0.982 |
| 3:50297090:C:G | R125P | 0.981 |
| 3:50297231:A:G | L78P | 0.981 |
| 3:50296619:A:G | M282T | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000264872 (3:50298681 C>A,T), RS1001823111 (3:50299658 C>T), RS1002895615 (3:50296517 G>C,T), RS1003761596 (3:50301184 G>A), RS1006278239 (3:50299444 C>A,G), RS1007115711 (3:50296278 C>A,T), RS1010410898 (3:50299075 C>G), RS1011385276 (3:50299993 A>G,T), RS1011415105 (3:50300347 A>T), RS1013329791 (3:50296779 C>A,T), RS1013583315 (3:50299520 C>T), RS1013610154 (3:50299650 G>C), RS1013916718 (3:50298002 T>C), RS1014362905 (3:50298340 T>C), RS1014933634 (3:50299447 C>G)
Disease associations
OMIM: gene MIM:607073 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| auroneurodental syndrome | Limited | Autosomal recessive |
Mondo (1): auroneurodental syndrome (MONDO:0970998)
Orphanet (0):
HPO phenotypes
29 total (29 of 29 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000160 | Narrow mouth |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000411 | Protruding ear |
| HP:0000508 | Ptosis |
| HP:0000699 | Diastema |
| HP:0001182 | Tapered finger |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0002066 | Gait ataxia |
| HP:0002162 | Low posterior hairline |
| HP:0002553 | Highly arched eyebrow |
| HP:0003327 | Axial muscle weakness |
| HP:0003593 | Infantile onset |
| HP:0003701 | Proximal muscle weakness |
| HP:0006342 | Peg-shaped maxillary lateral incisors |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0010535 | Sleep apnea |
| HP:0011968 | Feeding difficulties |
| HP:0012378 | Fatigue |
| HP:0012450 | Chronic constipation |
| HP:0025372 | Loud snoring |
| HP:0034295 | Reduced cerebral white matter volume |
| HP:0100716 | Self-injurious behavior |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007559_24 | Sleep duration (short sleep) | 3.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, affects splicing, decreases expression | 3 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | decreases expression, increases abundance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| monomethylarsonic acid | decreases expression | 1 |
| pyrrolidine dithiocarbamic acid | decreases reaction, affects cotreatment, decreases expression | 1 |
| arsenic acid | decreases expression, increases abundance | 1 |
| cadmium acetate | increases expression | 1 |
| bathocuproine sulfonate | decreases expression, decreases reaction, affects cotreatment | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| dimethylmonothioarsinic acid | decreases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Bortezomib | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Vehicle Emissions | decreases reaction, decreases expression | 1 |
| Cacodylic Acid | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Gallic Acid | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SZ97 | HAP1 NAT6 (-) 1 | Cancer cell line | Male |
| CVCL_SZ98 | HAP1 NAT6 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: auroneurodental syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): auroneurodental syndrome