NAA25
gene geneOn this page
Also known as FLJ13089
Summary
NAA25 (N-alpha-acetyltransferase 25, NatB auxiliary subunit, HGNC:25783) is a protein-coding gene on chromosome 12q24.13, encoding N-alpha-acetyltransferase 25, NatB auxiliary subunit (Q14CX7). Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. It is a selective cancer dependency (DepMap: 78.2% of cell lines).
This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.
Source: NCBI Gene 80018 — RefSeq curated summary.
At a glance
- GWAS associations: 34
- Clinical variants (ClinVar): 99 total
- Cancer dependency (DepMap): dependent in 78.2% of screened cell lines
- MANE Select transcript:
NM_024953
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25783 |
| Approved symbol | NAA25 |
| Name | N-alpha-acetyltransferase 25, NatB auxiliary subunit |
| Location | 12q24.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13089 |
| Ensembl gene | ENSG00000111300 |
| Ensembl biotype | protein_coding |
| OMIM | 612755 |
| Entrez | 80018 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000261745, ENST00000547133, ENST00000548181, ENST00000548627, ENST00000549711, ENST00000550701, ENST00000551858, ENST00000552527, ENST00000911268, ENST00000965676, ENST00000965677
RefSeq mRNA: 1 — MANE Select: NM_024953
NM_024953
CCDS: CCDS9159
Canonical transcript exons
ENST00000261745 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001311173 | 112026689 | 112029653 |
| ENSE00002379409 | 112108716 | 112108783 |
| ENSE00003458402 | 112090726 | 112090864 |
| ENSE00003463574 | 112043625 | 112043868 |
| ENSE00003463927 | 112078188 | 112078266 |
| ENSE00003497159 | 112074675 | 112074764 |
| ENSE00003507695 | 112060270 | 112060359 |
| ENSE00003527289 | 112081060 | 112081134 |
| ENSE00003546546 | 112039229 | 112039339 |
| ENSE00003560681 | 112048292 | 112048443 |
| ENSE00003564807 | 112071895 | 112072064 |
| ENSE00003566875 | 112061181 | 112061388 |
| ENSE00003578245 | 112093051 | 112093136 |
| ENSE00003587352 | 112087683 | 112087801 |
| ENSE00003601542 | 112047665 | 112047790 |
| ENSE00003605758 | 112043088 | 112043211 |
| ENSE00003606372 | 112040481 | 112040578 |
| ENSE00003607587 | 112078634 | 112078741 |
| ENSE00003609028 | 112075678 | 112075789 |
| ENSE00003615074 | 112033233 | 112033379 |
| ENSE00003643215 | 112042039 | 112042104 |
| ENSE00003666259 | 112053558 | 112053657 |
| ENSE00003666308 | 112068880 | 112068992 |
| ENSE00003686313 | 112054388 | 112054568 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 93.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.4454 / max 403.4021, expressed in 1809 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133325 | 24.4454 | 1809 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 93.99 | gold quality |
| endothelial cell | CL:0000115 | 91.75 | gold quality |
| deltoid | UBERON:0001476 | 91.37 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.13 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.19 | gold quality |
| corpus callosum | UBERON:0002336 | 89.62 | gold quality |
| nipple | UBERON:0002030 | 89.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.44 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.48 | gold quality |
| sural nerve | UBERON:0015488 | 87.37 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.95 | gold quality |
| muscle of leg | UBERON:0001383 | 86.94 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.76 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 86.62 | gold quality |
| upper arm skin | UBERON:0004263 | 86.60 | silver quality |
| colonic epithelium | UBERON:0000397 | 86.54 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 86.48 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 86.12 | gold quality |
| biceps brachii | UBERON:0001507 | 85.85 | gold quality |
| cerebellar vermis | UBERON:0004720 | 85.84 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 85.51 | gold quality |
| muscle tissue | UBERON:0002385 | 85.14 | gold quality |
| bone marrow cell | CL:0002092 | 84.75 | gold quality |
| tibial nerve | UBERON:0001323 | 84.57 | gold quality |
| skin of leg | UBERON:0001511 | 84.54 | gold quality |
| quadriceps femoris | UBERON:0001377 | 84.47 | silver quality |
| ileal mucosa | UBERON:0000331 | 84.46 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.45 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 84.44 | gold quality |
| secondary oocyte | CL:0000655 | 84.35 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-98556 | yes | 871.00 |
| E-ANND-3 | yes | 5.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
176 targeting NAA25, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-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 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 78.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 8)
- Human N-acetyltransferase complexe NatB consists of human N-acetyltransferase 3 and human MDM20. The hMDM20 knockdown decreased the fraction of cells in G(0)/G(1)-phase and increased the fraction of cells in the sub-G(0)/G(1)-phase. (PMID:18570629)
- hMdm20 (C12orf30) is an auxiliary subunit of the human NatB N-terminal acetyltransferase complex while hNat3 (NAT5) is the catalytic subunit. This ribosome associated complex acetylates nascent Met-Asp/Glu- polypeptides. (PMID:18570629)
- There are associations between juvenile idiopathic arthritis and variants in the TNFAIP3, STAT4, and C12orf30 regions that have previously shown associations with other autoimmune diseases, including rheumatoid arthritis and systemic lupus erythematosus. (PMID:19565500)
- The C120rf30 gene maps into a region of extensive linkage disequilibrium including several genes that represent functional candidates of type 1 diabetes-susceptibility. (PMID:20089178)
- The human NatB complex composed of Naa20 (NAT3) and Naa25 (MDM20) N-terminally acetylates Met-Glu-, Met-Asp-, Met-Asn- and Met-Gln- N-termini, and is important for the structure and function of actomyosin fibers and for proper cellular migration. (PMID:22814378)
- Mdm20 acts as a novel regulator of Rictor, thereby controlling mTORC2 activity, and leading to the activation of PKCalphaS657 and FoxO1. (PMID:26600389)
- The relationship between the prognosis of children with acute arterial stroke and polymorphisms of CDKN2B, HDAC9, NINJ2, NAA25 genes. (PMID:30656483)
- Genome-wide long non-coding RNA association study on Han Chinese women identifies lncHSAT164 as a novel susceptibility gene for breast cancer. (PMID:34018994)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | naa25 | ENSDARG00000075446 |
| mus_musculus | Naa25 | ENSMUSG00000042719 |
| rattus_norvegicus | Naa25 | ENSRNOG00000001350 |
| drosophila_melanogaster | psidin | FBGN0243511 |
| caenorhabditis_elegans | WBGENE00020068 |
Paralogs (2): NAA15 (ENSG00000164134), NAA16 (ENSG00000172766)
Protein
Protein identifiers
N-alpha-acetyltransferase 25, NatB auxiliary subunit — Q14CX7 (reviewed: Q14CX7)
Alternative names: Mitochondrial distribution and morphology protein 20, N-terminal acetyltransferase B complex subunit MDM20, N-terminal acetyltransferase B complex subunit NAA25, p120
All UniProt accessions (4): Q14CX7, F8VSB9, F8W0N5, H0YHR9
UniProt curated annotations — full annotation on UniProt →
Function. Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. May play a role in normal cell-cycle progression.
Subunit / interactions. Component of the N-terminal acetyltransferase B (NatB) complex which is composed of NAA20 and NAA25.
Subcellular location. Cytoplasm.
Similarity. Belongs to the MDM20/NAA25 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14CX7-1 | 1 | yes |
| Q14CX7-2 | 2 |
RefSeq proteins (1): NP_079229* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019183 | NAA25_NatB_aux_su | Family |
Pfam: PF09797
Enzyme classification (BRENDA):
- EC 2.3.1.254 — N-terminal methionine Nalpha-acetyltransferase NatB (BRENDA: 7 organisms, 25 substrates, 1 inhibitors, 10 Km, 6 kcat entries)
Substrate kinetics (BRENDA)
10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ACETYL-COA | 0.0069 | 1 |
| MFGPEEGGRWGRPVGRRRRRPVRVYP | 3.734 | 1 |
| MIGPEEGGRWGRPVGRRRRRPVRVYP | 0.185 | 1 |
| MLALISRRWGRPVGRRRRRPVRVYP | 0.19 | 1 |
| MLDPEEGGRWGRPVGRRRRRPVRVYP | 0.091 | 1 |
| MLGPEGGRWGRPVGRRRRRPVRVYP | 0.079 | 1 |
| MLGTEEGGRWGRPVGRRRRRPVRVYP | 0.416 | 1 |
| MLGTGPARWGRPVGRRRRRPVRVYP | 0.32 | 1 |
| MLLPEEGGRWGRPVGRRRRRPVRVYP | 0.478 | 1 |
| MLRPEEGGRWGRPVGRRRRRPVRVYP | 0.46 | 1 |
UniProt features (91 total): helix 47, turn 15, strand 14, repeat 4, sequence variant 4, sequence conflict 4, splice variant 2, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7STX | ELECTRON MICROSCOPY | 3.14 |
| 8G0L | ELECTRON MICROSCOPY | 3.39 |
| 6VP9 | ELECTRON MICROSCOPY | 3.46 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14CX7-F1 | 91.31 | 0.79 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 162 (showing top):
TGCGCANK_UNKNOWN, GCM_GSPT1, RORA1_01, GCM_ZNF198, GCM_PPM1D, TGACCTY_ERR1_Q2, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WEI_MYCN_TARGETS_WITH_E_BOX, CATTTCA_MIR203, GCM_SUFU, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, HOOI_ST7_TARGETS_DN, TGACCTTG_SF1_Q6, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP
GO Biological Process (1): cytoskeleton organization (GO:0007010)
GO Molecular Function (2): acetyltransferase activator activity (GO:0010698), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), NatB complex (GO:0031416)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| organelle organization | 1 |
| enzyme activator activity | 1 |
| acetyltransferase activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| N-terminal protein acetyltransferase complex | 1 |
Protein interactions and networks
STRING
1536 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAA25 | NAA20 | P61599 | 998 |
| NAA25 | NAA15 | Q9BXJ9 | 931 |
| NAA25 | NAA30 | Q147X3 | 877 |
| NAA25 | NAA35 | Q5VZE5 | 839 |
| NAA25 | NAA10 | P41227 | 823 |
| NAA25 | SH2B3 | Q9UQQ2 | 760 |
| NAA25 | NAA50 | Q9GZZ1 | 718 |
| NAA25 | NAA40 | Q86UY6 | 677 |
| NAA25 | TMEM116 | Q8NCL8 | 649 |
| NAA25 | WASF1 | Q92558 | 643 |
| NAA25 | CLEC16A | Q2KHT3 | 640 |
| NAA25 | NAA60 | Q9H7X0 | 622 |
| NAA25 | PTPN2 | P17706 | 618 |
| NAA25 | ESCO1 | Q5FWF5 | 614 |
| NAA25 | HYPK | Q9NX55 | 612 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDH2 | CTNNB1 | psi-mi:“MI:0914”(association) | 0.930 |
| PSMB7 | PSMA7 | psi-mi:“MI:0914”(association) | 0.790 |
| ACTR1A | DCTN2 | psi-mi:“MI:0914”(association) | 0.790 |
| AP2S1 | AP2A2 | psi-mi:“MI:0914”(association) | 0.640 |
| PTGR3 | DBT | psi-mi:“MI:0914”(association) | 0.640 |
| CDH2 | JUP | psi-mi:“MI:0914”(association) | 0.560 |
| REG1B | REG1A | psi-mi:“MI:0914”(association) | 0.560 |
| REG1A | REG1B | psi-mi:“MI:0914”(association) | 0.560 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| TNFRSF8 | DAPK3 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKAR2B | AMY1A | psi-mi:“MI:0914”(association) | 0.530 |
| LUC7L2 | ZNF593 | psi-mi:“MI:0914”(association) | 0.530 |
| REG1A | NAA25 | psi-mi:“MI:0914”(association) | 0.530 |
| NAA20 | NAA25 | psi-mi:“MI:0915”(physical association) | 0.520 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SUZ12 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CENPM | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| AKAP1 | MFN2 | psi-mi:“MI:0914”(association) | 0.350 |
| RHOF | GSTT1 | psi-mi:“MI:0914”(association) | 0.350 |
| BBS1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| AHR | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB2 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MND1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D9 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| MILR1 | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMAD4 | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (69): NAA25 (Affinity Capture-MS), NAA25 (Affinity Capture-MS), NAA20 (Co-fractionation), NAA25 (Co-fractionation), NAA25 (Co-fractionation), NAA25 (Co-fractionation), NAA25 (Affinity Capture-MS), NAA25 (Affinity Capture-MS), NAA25 (Affinity Capture-MS), NAA25 (Affinity Capture-MS), NAA25 (Affinity Capture-MS), NAA25 (Affinity Capture-RNA), NAA25 (Affinity Capture-MS), NAA25 (Positive Genetic), NAA25 (Negative Genetic)
ESM2 similar proteins: A0A1S4D1D3, A0A1W2PR95, A0A8I6ASZ5, A8WE67, D2K8N5, D3Z8X7, D3ZND0, E1C760, E7EXT2, F6Y9J3, F7AEX0, O08836, O60308, P27641, P54729, P78318, Q0P4W3, Q14CX7, Q15021, Q2QY04, Q2YD98, Q3ZC62, Q4V8E4, Q5EAU9, Q61249, Q68FJ0, Q6NY52, Q6PBQ2, Q6PGY6, Q6QI44, Q7ZXA8, Q80V31, Q86VS3, Q8BWZ3, Q8C6E0, Q8C9J3, Q8IYW2, Q8K2Z4, Q8LDQ4, Q8LNU5
Diamond homologs: Q14CX7, Q294E0, Q6QI44, Q7PYI4, Q8BWZ3, Q9VDQ7, Q17DK2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NAA25 | “form complex” | NatB | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4009 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:112029789:CAAT:C | acceptor_gain | 1.0000 |
| 12:112029792:T:C | acceptor_gain | 1.0000 |
| 12:112029792:T:TC | acceptor_gain | 1.0000 |
| 12:112029795:C:CT | acceptor_gain | 1.0000 |
| 12:112029796:A:AC | acceptor_gain | 1.0000 |
| 12:112029796:A:C | acceptor_gain | 1.0000 |
| 12:112029801:A:AC | acceptor_gain | 1.0000 |
| 12:112029801:A:C | acceptor_gain | 1.0000 |
| 12:112040474:AACTT:A | donor_loss | 1.0000 |
| 12:112040475:ACTT:A | donor_loss | 1.0000 |
| 12:112040476:CTTAC:C | donor_loss | 1.0000 |
| 12:112040477:TTA:T | donor_loss | 1.0000 |
| 12:112040478:TAC:T | donor_loss | 1.0000 |
| 12:112040479:A:C | donor_loss | 1.0000 |
| 12:112040480:C:G | donor_loss | 1.0000 |
| 12:112040576:CAT:C | acceptor_gain | 1.0000 |
| 12:112040577:AT:A | acceptor_gain | 1.0000 |
| 12:112040579:C:CC | acceptor_gain | 1.0000 |
| 12:112042103:CT:C | acceptor_gain | 1.0000 |
| 12:112042105:C:CC | acceptor_gain | 1.0000 |
| 12:112042111:T:C | acceptor_gain | 1.0000 |
| 12:112042111:T:TC | acceptor_gain | 1.0000 |
| 12:112043207:GGATA:G | acceptor_gain | 1.0000 |
| 12:112043208:GATA:G | acceptor_gain | 1.0000 |
| 12:112043210:TA:T | acceptor_gain | 1.0000 |
| 12:112043212:C:CC | acceptor_gain | 1.0000 |
| 12:112043619:TGGTA:T | donor_loss | 1.0000 |
| 12:112043620:GGTAC:G | donor_loss | 1.0000 |
| 12:112043621:GTAC:G | donor_loss | 1.0000 |
| 12:112043622:TACCT:T | donor_loss | 1.0000 |
AlphaMissense
6409 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:112048364:A:G | L603P | 1.000 |
| 12:112048409:C:T | G588D | 1.000 |
| 12:112048421:G:T | A584D | 1.000 |
| 12:112048422:C:G | A584P | 1.000 |
| 12:112054411:C:A | K535N | 1.000 |
| 12:112054411:C:G | K535N | 1.000 |
| 12:112054413:T:C | K535E | 1.000 |
| 12:112078259:A:G | L198P | 1.000 |
| 12:112078689:G:T | A177D | 1.000 |
| 12:112078690:C:G | A177P | 1.000 |
| 12:112078692:A:G | L176P | 1.000 |
| 12:112078692:A:T | L176H | 1.000 |
| 12:112081072:G:C | S155R | 1.000 |
| 12:112081072:G:T | S155R | 1.000 |
| 12:112081074:T:G | S155R | 1.000 |
| 12:112081084:C:A | W151C | 1.000 |
| 12:112081084:C:G | W151C | 1.000 |
| 12:112081086:A:G | W151R | 1.000 |
| 12:112081086:A:T | W151R | 1.000 |
| 12:112081121:A:G | L139P | 1.000 |
| 12:112081130:C:T | G136D | 1.000 |
| 12:112087710:T:A | R125S | 1.000 |
| 12:112087710:T:G | R125S | 1.000 |
| 12:112087720:G:T | A122D | 1.000 |
| 12:112087721:C:G | A122P | 1.000 |
| 12:112087729:A:G | L119P | 1.000 |
| 12:112087771:G:T | A105D | 1.000 |
| 12:112090740:C:G | R90P | 1.000 |
| 12:112090755:A:G | L85P | 1.000 |
| 12:112090764:A:G | L82P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000021466 (12:112091081 A>T), RS1000082646 (12:112057405 C>T), RS1000097342 (12:112084529 G>A), RS1000135391 (12:112097380 G>T), RS1000156362 (12:112032487 ATCAGCAGTTTAGC>A,ATCAGCAGTTTAGCTCAGCAGTTTAGC), RS1000163961 (12:112036789 A>G), RS1000265842 (12:112035748 G>C,T), RS1000289629 (12:112083927 A>G), RS1000339077 (12:112064801 G>A,C,T), RS1000363022 (12:112049716 G>A), RS1000391686 (12:112064554 C>T), RS1000442457 (12:112027919 T>C), RS1000501074 (12:112035127 A>G,T), RS1000530659 (12:112089643 G>A), RS1000536476 (12:112057734 T>C,G)
Disease associations
OMIM: gene MIM:612755 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
34 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000038_1 | Type 1 diabetes | 2.000000e-16 |
| GCST000258_8 | Type 1 diabetes | 6.000000e-18 |
| GCST001474_12 | Hypothyroidism | 3.000000e-12 |
| GCST004131_54 | Inflammatory bowel disease | 2.000000e-09 |
| GCST004132_84 | Crohn’s disease | 7.000000e-07 |
| GCST004603_121 | Platelet count | 2.000000e-54 |
| GCST004607_57 | Plateletcrit | 7.000000e-58 |
| GCST005329_1 | Coffee consumption | 2.000000e-16 |
| GCST005439_1 | Response to alcohol consumption (flushing response) | 2.000000e-14 |
| GCST005440_17 | Alcohol dependence symptom count | 6.000000e-10 |
| GCST005441_8 | Alcohol consumption (max-drinks) | 2.000000e-12 |
| GCST005951_1 | Body mass index | 4.000000e-12 |
| GCST005951_75 | Body mass index | 2.000000e-11 |
| GCST006166_13 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 1.000000e-34 |
| GCST006166_36 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 3.000000e-33 |
| GCST006167_26 | Mean arterial pressure x alcohol consumption interaction (2df test) | 6.000000e-12 |
| GCST006231_56 | Mean arterial pressure | 2.000000e-17 |
| GCST006434_40 | Systolic blood pressure x alcohol consumption interaction (2df test) | 6.000000e-21 |
| GCST006434_64 | Systolic blood pressure x alcohol consumption interaction (2df test) | 5.000000e-19 |
| GCST007576_238 | Chronotype | 1.000000e-10 |
| GCST008058_12 | Estimated glomerular filtration rate | 1.000000e-09 |
| GCST008059_211 | Estimated glomerular filtration rate | 3.000000e-08 |
| GCST008060_19 | Estimated glomerular filtration rate | 3.000000e-06 |
| GCST008972_141 | Urate levels | 2.000000e-13 |
| GCST010274_1 | Gout (combined type) | 2.000000e-27 |
| GCST010476_15 | Myocardial infarction | 1.000000e-09 |
| GCST011499_1 | Fish consumption | 6.000000e-11 |
| GCST011971_17 | Weight | 8.000000e-21 |
| GCST011971_18 | Weight | 2.000000e-20 |
| GCST012044_5 | Tea consumption | 6.000000e-08 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0006782 | cups of coffee per day measurement |
| EFO:0007835 | alcohol dependence measurement |
| EFO:0004340 | body mass index |
| EFO:0004329 | alcohol drinking |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0008328 | chronotype measurement |
| EFO:0004531 | urate measurement |
| EFO:0010139 | fish consumption measurement |
| EFO:0004338 | body weight |
| EFO:0010091 | tea consumption measurement |
| EFO:0003939 | energy intake |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Cyclosporine | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| kojic acid | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| jinfukang | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Allergens | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Vincristine | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| beta-Naphthoflavone | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
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): gout, hypothyroidism