DDX51
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Summary
DDX51 (DEAD-box helicase 51, HGNC:20082) is a protein-coding gene on chromosome 12q24.33, encoding ATP-dependent RNA helicase DDX51 (Q8N8A6). ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits. It is a common-essential gene (DepMap: required in 96.6% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in membrane.
Source: NCBI Gene 317781 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 186 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 96.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_175066
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20082 |
| Approved symbol | DDX51 |
| Name | DEAD-box helicase 51 |
| Location | 12q24.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000185163 |
| Ensembl biotype | protein_coding |
| Entrez | 317781 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 5 retained_intron
ENST00000329073, ENST00000397333, ENST00000462829, ENST00000541489, ENST00000545991, ENST00000546058, ENST00000864667, ENST00000919064, ENST00000919065, ENST00000919066, ENST00000960080, ENST00000960081, ENST00000960082
RefSeq mRNA: 1 — MANE Select: NM_175066
NM_175066
CCDS: CCDS41865
Canonical transcript exons
ENST00000397333 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001301508 | 132143993 | 132144319 |
| ENSE00001302733 | 132142728 | 132142878 |
| ENSE00001324623 | 132143695 | 132143909 |
| ENSE00001528235 | 132136594 | 132139298 |
| ENSE00003473661 | 132139635 | 132139769 |
| ENSE00003473703 | 132142119 | 132142190 |
| ENSE00003480365 | 132140098 | 132140199 |
| ENSE00003528149 | 132139861 | 132139924 |
| ENSE00003534230 | 132142277 | 132142422 |
| ENSE00003536349 | 132140620 | 132140735 |
| ENSE00003577993 | 132140831 | 132141020 |
| ENSE00003620265 | 132141275 | 132141420 |
| ENSE00003627912 | 132140423 | 132140539 |
| ENSE00003656622 | 132141850 | 132141956 |
| ENSE00003677605 | 132141498 | 132141606 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 90.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.0562 / max 229.1759, expressed in 1779 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134191 | 13.0562 | 1779 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 90.22 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.02 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.76 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.66 | gold quality |
| cerebellum | UBERON:0002037 | 89.65 | gold quality |
| pituitary gland | UBERON:0000007 | 89.55 | gold quality |
| left ovary | UBERON:0002119 | 89.37 | gold quality |
| right uterine tube | UBERON:0001302 | 89.08 | gold quality |
| apex of heart | UBERON:0002098 | 88.91 | gold quality |
| right ovary | UBERON:0002118 | 88.82 | gold quality |
| body of pancreas | UBERON:0001150 | 88.69 | gold quality |
| ovary | UBERON:0000992 | 88.46 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.30 | gold quality |
| granulocyte | CL:0000094 | 88.29 | gold quality |
| left uterine tube | UBERON:0001303 | 88.04 | gold quality |
| body of uterus | UBERON:0009853 | 87.44 | gold quality |
| spleen | UBERON:0002106 | 87.18 | gold quality |
| frontal cortex | UBERON:0001870 | 86.81 | gold quality |
| right testis | UBERON:0004534 | 86.72 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.67 | gold quality |
| tibial nerve | UBERON:0001323 | 86.65 | gold quality |
| ectocervix | UBERON:0012249 | 86.58 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.57 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.56 | gold quality |
| left testis | UBERON:0004533 | 86.47 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.46 | gold quality |
| brain | UBERON:0000955 | 86.44 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.40 | gold quality |
| endocervix | UBERON:0000458 | 86.36 | gold quality |
| body of stomach | UBERON:0001161 | 86.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting DDX51, 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-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-12113 | 99.32 | 67.54 | 1072 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-4716-5P | 98.82 | 68.57 | 1168 |
| HSA-MIR-3149 | 98.77 | 67.13 | 1639 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-4752 | 98.71 | 68.04 | 833 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- these data suggest that DDX51 aids cell cancer proliferation by regulating multiple signaling pathways (PMID:27198888)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx51 | ENSDARG00000025854 |
| mus_musculus | Ddx51 | ENSMUSG00000029504 |
| rattus_norvegicus | Ddx51 | ENSRNOG00000037480 |
| drosophila_melanogaster | Dbp73D | FBGN0004556 |
| caenorhabditis_elegans | WBGENE00022792 |
Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
ATP-dependent RNA helicase DDX51 — Q8N8A6 (reviewed: Q8N8A6)
Alternative names: DEAD box protein 51
All UniProt accessions (1): Q8N8A6
UniProt curated annotations — full annotation on UniProt →
Function. ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits.
Subcellular location. Nucleus. Nucleolus.
Domain organisation. The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
Similarity. Belongs to the DEAD box helicase family. DDX51/DBP6 subfamily.
RefSeq proteins (1): NP_778236* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000629 | RNA-helicase_DEAD-box_CS | Conserved_site |
| IPR001650 | Helicase_C-like | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (28 total): sequence variant 8, compositionally biased region 5, sequence conflict 4, modified residue 3, domain 2, short sequence motif 2, initiator methionine 1, chain 1, binding site 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8A6-F1 | 74.64 | 0.37 |
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 (1): 256–263
Post-translational modifications (3): 2, 83, 103
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 158 (showing top):
GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, CREBP1_Q2, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, CREB_Q4, E4F1_Q6, ATF3_Q6, CREB_Q2_01, ATF4_Q2, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, BURTON_ADIPOGENESIS_4, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, ATF_01, CREBP1CJUN_01, CREB_01
GO Biological Process (2): rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (8): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2843 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX51 | CFAP45 | Q9UL16 | 600 |
| DDX51 | NOL10 | Q9BSC4 | 563 |
| DDX51 | NOL9 | Q5SY16 | 541 |
| DDX51 | RRP9 | O43818 | 525 |
| DDX51 | PDCD11 | Q14690 | 522 |
| DDX51 | RBM34 | P42696 | 517 |
| DDX51 | URB1 | O60287 | 505 |
| DDX51 | PPAN | Q9NQ55 | 484 |
| DDX51 | A0A0B4J1V8 | A0A0B4J1V8 | 483 |
| DDX51 | WRAP73 | Q9P2S5 | 471 |
| DDX51 | NOP58 | Q9Y2X3 | 468 |
| DDX51 | WDR36 | Q8NI36 | 466 |
| DDX51 | GTPBP4 | Q9BZE4 | 462 |
| DDX51 | RRP8 | O43159 | 458 |
| DDX51 | NOP56 | O00567 | 448 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEUROG3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| ILF3 | ADAR | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| PLEKHO1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| RSBN1 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| CASQ2 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| GTF3C2 | C1QBP | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (146): DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Co-fractionation), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS), DDX51 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8Y7D0, A1L020, A2ARS0, A6NDN8, G1T8A2, O70418, O75426, P29473, P29597, P49897, P49898, P52824, P55073, P62861, P62862, P70313, P79209, Q08097, Q08DF2, Q148R9, Q1LZC5, Q28969, Q39491, Q4R327, Q566C8, Q5SPX3, Q62600, Q6DN07, Q6H5L4, Q6N063, Q6NXT1, Q6QN11, Q6ZS82, Q758T2, Q7L9B9, Q86SG2, Q8C2K5, Q8MJG0, Q8N8A6, Q8TD08
Diamond homologs: A1CIQ5, A1CKJ0, A1CR32, A1CW14, A1D405, A1D6X9, A2QA23, A2RB17, A2XKG2, A3LNR6, A3LS22, A3LSJ2, A3LSN3, A4QYM6, A4RGD1, A5D7C1, A5DID7, A5DK47, A5DLE0, A5DQF1, A5DS77, A5DY34, A5E726, A6QRQ7, A6RUH2, A6RW56, A6ZSB3, A6ZSX1, A7EML8, A7F4L5, A7TFZ9, A7TS37, O22907, P0CR00, P0CR01, P25888, P26802, P34580, P38712, P53734
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 142 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Peptide chain elongation | 13 | 16.7× | 9e-11 |
| Viral mRNA Translation | 13 | 16.7× | 9e-11 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 13 | 16.5× | 9e-11 |
| Selenocysteine synthesis | 13 | 15.8× | 1e-10 |
| Eukaryotic Translation Termination | 13 | 15.8× | 1e-10 |
| Response of EIF2AK4 (GCN2) to amino acid deficiency | 14 | 15.7× | 6e-11 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 13 | 15.5× | 1e-10 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 13 | 15.5× | 1e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 8 | 27.3× | 1e-07 |
| cytoplasmic translation | 14 | 19.9× | 8e-12 |
| rRNA processing | 13 | 14.2× | 4e-09 |
| positive regulation of miRNA transcription | 6 | 13.4× | 7e-04 |
| ribosomal small subunit biogenesis | 7 | 12.3× | 3e-04 |
| RNA processing | 7 | 11.8× | 4e-04 |
| translation | 14 | 11.1× | 1e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
186 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 152 |
| Likely benign | 16 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3244436 | NC_000012.11:g.(?132414268)(133263901_?)del | Pathogenic |
SpliceAI
2456 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:132139630:CTTA:C | donor_loss | 1.0000 |
| 12:132139631:TTA:T | donor_loss | 1.0000 |
| 12:132139632:TACCT:T | donor_loss | 1.0000 |
| 12:132139633:A:AG | donor_loss | 1.0000 |
| 12:132140092:GCTCA:G | donor_loss | 1.0000 |
| 12:132140093:CTCAC:C | donor_loss | 1.0000 |
| 12:132140094:TCACC:T | donor_loss | 1.0000 |
| 12:132140095:CA:C | donor_loss | 1.0000 |
| 12:132140096:A:AC | donor_gain | 1.0000 |
| 12:132140096:AC:A | donor_gain | 1.0000 |
| 12:132140097:C:CT | donor_gain | 1.0000 |
| 12:132140097:CC:C | donor_gain | 1.0000 |
| 12:132140418:CTCA:C | donor_loss | 1.0000 |
| 12:132140419:TCACA:T | donor_loss | 1.0000 |
| 12:132140420:CA:C | donor_loss | 1.0000 |
| 12:132140421:A:AC | donor_gain | 1.0000 |
| 12:132140421:AC:A | donor_loss | 1.0000 |
| 12:132140421:ACAG:A | donor_gain | 1.0000 |
| 12:132140422:C:CC | donor_gain | 1.0000 |
| 12:132140422:CA:C | donor_gain | 1.0000 |
| 12:132140422:CAG:C | donor_gain | 1.0000 |
| 12:132140422:CAGC:C | donor_gain | 1.0000 |
| 12:132140433:T:TA | donor_gain | 1.0000 |
| 12:132140434:C:A | donor_gain | 1.0000 |
| 12:132140535:AGAGC:A | acceptor_gain | 1.0000 |
| 12:132140536:GAGC:G | acceptor_gain | 1.0000 |
| 12:132140538:GC:G | acceptor_gain | 1.0000 |
| 12:132140538:GCCTA:G | acceptor_loss | 1.0000 |
| 12:132140539:CC:C | acceptor_gain | 1.0000 |
| 12:132140540:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
4262 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:132140098:C:G | R592P | 0.998 |
| 12:132140190:G:C | S561R | 0.998 |
| 12:132140190:G:T | S561R | 0.998 |
| 12:132140192:T:G | S561R | 0.998 |
| 12:132140102:G:C | H591D | 0.997 |
| 12:132140646:G:C | F510L | 0.997 |
| 12:132140646:G:T | F510L | 0.997 |
| 12:132140648:A:G | F510L | 0.997 |
| 12:132141410:T:A | E372V | 0.997 |
| 12:132141553:A:G | L350P | 0.997 |
| 12:132139915:C:A | R595S | 0.996 |
| 12:132139915:C:G | R595S | 0.996 |
| 12:132141401:C:G | R375P | 0.996 |
| 12:132141569:C:G | A345P | 0.996 |
| 12:132141404:T:A | D374V | 0.995 |
| 12:132141405:C:G | D374H | 0.995 |
| 12:132141408:C:G | A373P | 0.995 |
| 12:132141410:T:G | E372A | 0.995 |
| 12:132141499:A:G | L368P | 0.995 |
| 12:132141556:C:G | R349P | 0.995 |
| 12:132142153:A:G | L285P | 0.995 |
| 12:132139916:C:G | R595T | 0.994 |
| 12:132140136:G:C | N579K | 0.994 |
| 12:132140136:G:T | N579K | 0.994 |
| 12:132140177:C:G | A566P | 0.994 |
| 12:132140651:A:G | C509R | 0.994 |
| 12:132140703:C:A | K491N | 0.994 |
| 12:132140703:C:G | K491N | 0.994 |
| 12:132142126:G:T | A294D | 0.994 |
| 12:132142332:A:T | V254D | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000269617 (12:132142812 G>A,C,T), RS1000521431 (12:132143414 C>G,T), RS1000575013 (12:132140616 T>C), RS1000819124 (12:132143415 G>A), RS1000922669 (12:132136931 T>A), RS1001138798 (12:132136612 T>C), RS1001199394 (12:132143663 C>A,G,T), RS1001421656 (12:132140003 C>T), RS1001533438 (12:132144202 C>A,T), RS1001689037 (12:132143688 G>A,T), RS1002039657 (12:132143241 A>G), RS1002239931 (12:132144650 G>A,C,T), RS1002371281 (12:132143368 C>T), RS1002520205 (12:132138904 C>G,T), RS1002700673 (12:132141781 C>A,G,T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:615083
GenCC curated gene-disease
Mondo (1): colorectal cancer, susceptibility to, 12 (MONDO:0014038)
Orphanet (1): Attenuated familial adenomatous polyposis (Orphanet:220460)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_3 | Body mass index | 6.000000e-09 |
| GCST007059_15 | Response to antidepressants (symptom improvement) | 5.000000e-06 |
| GCST007060_6 | Response to SSRI (symptom remission) | 3.000000e-06 |
| GCST008163_561 | Height | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
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 |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| tamibarotene | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases 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 |
| Sunitinib | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Phthalic Acids | decreases expression | 1 |
| Plant Extracts | decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Cadmium Chloride | decreases 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): colorectal cancer, susceptibility to, 12