DDX49
gene geneOn this page
Also known as FLJ10432Dbp8
Summary
DDX49 (DEAD-box helicase 49, HGNC:18684) is a protein-coding gene on chromosome 19p13.11, encoding Probable ATP-dependent RNA helicase DDX49 (Q9Y6V7). ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including the regulation of mRNA export and the levels of pre-ribosomal RNA. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Enables RNA helicase activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Located in nucleoplasm.
Source: NCBI Gene 54555 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 85 total
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_019070
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18684 |
| Approved symbol | DDX49 |
| Name | DEAD-box helicase 49 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10432, Dbp8 |
| Ensembl gene | ENSG00000105671 |
| Ensembl biotype | protein_coding |
| Entrez | 54555 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 6 nonsense_mediated_decay, 5 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000247003, ENST00000593361, ENST00000594021, ENST00000595858, ENST00000596502, ENST00000598277, ENST00000598972, ENST00000599156, ENST00000599373, ENST00000599981, ENST00000601772, ENST00000601803, ENST00000602113, ENST00000629999, ENST00000878195, ENST00000878196, ENST00000878197, ENST00000944842
RefSeq mRNA: 1 — MANE Select: NM_019070
NM_019070
CCDS: CCDS12390
Canonical transcript exons
ENST00000247003 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003164654 | 18928128 | 18928630 |
| ENSE00003478575 | 18922326 | 18922513 |
| ENSE00003481481 | 18924882 | 18924979 |
| ENSE00003492443 | 18924233 | 18924308 |
| ENSE00003509996 | 18922604 | 18922744 |
| ENSE00003589729 | 18919715 | 18919856 |
| ENSE00003591276 | 18920580 | 18920703 |
| ENSE00003636751 | 18924623 | 18924699 |
| ENSE00003650663 | 18927965 | 18928036 |
| ENSE00003656327 | 18921663 | 18921748 |
| ENSE00003674514 | 18927766 | 18927854 |
| ENSE00003676955 | 18921843 | 18921964 |
| ENSE00003683832 | 18926303 | 18926377 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 94.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.1975 / max 184.3204, expressed in 1815 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174748 | 26.1975 | 1815 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 94.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.12 | gold quality |
| granulocyte | CL:0000094 | 93.08 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.81 | gold quality |
| apex of heart | UBERON:0002098 | 92.28 | gold quality |
| skin of leg | UBERON:0001511 | 92.26 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.20 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.92 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.79 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.70 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.39 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.36 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.25 | gold quality |
| amygdala | UBERON:0001876 | 91.20 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.18 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.16 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.05 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.02 | gold quality |
| body of pancreas | UBERON:0001150 | 90.75 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.68 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.59 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.59 | gold quality |
| esophagus | UBERON:0001043 | 90.57 | gold quality |
| left testis | UBERON:0004533 | 90.56 | gold quality |
| lower esophagus | UBERON:0013473 | 90.49 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.49 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.39 | gold quality |
| right testis | UBERON:0004534 | 90.33 | gold quality |
| putamen | UBERON:0001874 | 90.32 | gold quality |
| monocyte | CL:0000576 | 90.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
5 targeting DDX49, 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-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-6736-3P | 96.98 | 65.22 | 1342 |
| HSA-MIR-6727-5P | 92.41 | 61.98 | 83 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- DDX49 displays a robust ATPase and RNA helicase activity and it is involved in the export of poly (A)+ mRNAs to cytoplasm. DDX49 is localized in the nucleolus and regulates the steady state levels of pre-ribosomal 47S RNA and global translation. (PMID:29618122)
- DDX49 is a novel biomarker and therapeutic target for lung cancer metastases. (PMID:31749282)
- LncRNA SNHG20 promoted proliferation, invasion and inhibited cell apoptosis of lung adenocarcinoma via sponging miR-342 and upregulating DDX49. (PMID:33089952)
- Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth. (PMID:33952717)
- DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi’s Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs. (PMID:36298642)
- DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/beta-Catenin Signalings. (PMID:37094865)
- Overexpression of DDX49 in prostate cancer is associated with poor prognosis. (PMID:37106339)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx49 | ENSDARG00000012899 |
| mus_musculus | Ddx49 | ENSMUSG00000057788 |
| rattus_norvegicus | Ddx49 | ENSRNOG00000022368 |
| drosophila_melanogaster | Dbp45A | FBGN0010220 |
| caenorhabditis_elegans | WBGENE00019219 |
Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), 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), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
Probable ATP-dependent RNA helicase DDX49 — Q9Y6V7 (reviewed: Q9Y6V7)
Alternative names: DEAD box protein 49
All UniProt accessions (5): Q9Y6V7, M0QXD4, M0QZC0, M0R0K1, M0R1S3
UniProt curated annotations — full annotation on UniProt →
Function. ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including the regulation of mRNA export and the levels of pre-ribosomal RNA. Regulates the stability and synthesis of pre-ribosomal RNA and thereby regulates cell proliferation. Also possesses antiviral activity by recognizing gammaherpesvirus transcripts in the context of lytic reactivation.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y6V7-1 | 1 | yes |
| Q9Y6V7-2 | 2 |
RefSeq proteins (1): NP_061943* (*=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 |
| IPR014014 | RNA_helicase_DEAD_Q_motif | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050079 | DEAD_box_RNA_helicase | Family |
Pfam: PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (15 total): splice variant 3, sequence variant 3, domain 2, short sequence motif 2, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6V7-F1 | 86.72 | 0.57 |
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): 46–53
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 151 (showing top):
MODULE_97, GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MORF_SNRP70, MORF_UBE2I, GOBP_GROWTH, MORF_HDAC1, MORF_UBE2N, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_182, MORF_TERF1, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MORF_SKP1A, GOBP_REGULATION_OF_CATABOLIC_PROCESS, MORF_CCNI
GO Biological Process (3): rRNA processing (GO:0006364), positive regulation of cell growth (GO:0030307), regulation of rRNA stability (GO:0044357)
GO Molecular Function (9): 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), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| positive regulation of growth | 1 |
| positive regulation of cellular process | 1 |
| regulation of RNA stability | 1 |
| regulation of rRNA catabolic process | 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 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
3583 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX49 | ABT1 | Q9ULW3 | 960 |
| DDX49 | BYSL | Q13895 | 823 |
| DDX49 | DHX8 | Q14562 | 823 |
| DDX49 | EMG1 | Q92979 | 776 |
| DDX49 | DHX15 | O43143 | 760 |
| DDX49 | UTP25 | Q68CQ4 | 714 |
| DDX49 | DHX37 | Q8IY37 | 670 |
| DDX49 | NMD3 | Q96D46 | 661 |
| DDX49 | ESF1 | Q9H501 | 660 |
| DDX49 | PDCD11 | Q14690 | 625 |
| DDX49 | NOB1 | Q9ULX3 | 593 |
| DDX49 | MTREX | P42285 | 580 |
| DDX49 | SNRNP40 | Q96DI7 | 575 |
| DDX49 | UTP15 | Q8TED0 | 570 |
| DDX49 | DHX16 | O60231 | 564 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PAGE1 | DDX49 | psi-mi:“MI:0915”(physical association) | 0.670 |
| STX1A | DDX49 | psi-mi:“MI:0915”(physical association) | 0.560 |
| gag | SEPSECS | psi-mi:“MI:0914”(association) | 0.560 |
| RNF19B | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| Shcbp1 | PDIA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| gag | DDX49 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DDX49 | PSMB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ANG | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF19B | psi-mi:“MI:0914”(association) | 0.350 | |
| EVL | RPL23 | psi-mi:“MI:0914”(association) | 0.350 |
| SUPT5H | psi-mi:“MI:0914”(association) | 0.350 | |
| CASP8 | CCN1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTEN | ERAL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM2 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| LMNB1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| PAGE1 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (87): DDX49 (Co-fractionation), DDX49 (Reconstituted Complex), DDX49 (Proximity Label-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Proximity Label-MS), DDX49 (Proximity Label-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), HAP1 (Two-hybrid)
ESM2 similar proteins: A1CR32, A1D405, A2XKG2, A3LP87, A3LS22, A5DLE0, A5E0U9, A6QXC1, A6RW56, A6ZSX1, A6ZT77, A7EML8, A7TK63, A7TS37, P0CR00, P0CR01, P34580, P34640, P38712, P38719, Q07886, Q09775, Q0CIQ3, Q29S22, Q2H1Q8, Q2UMH8, Q2UNB7, Q3EBD3, Q4FZF3, Q4IFI0, Q59PR3, Q5B5E7, Q61R02, Q6BGU8, Q6C799, Q6CH58, Q6CXW0, Q6FNK8, Q6FQZ0, Q756G5
Diamond homologs: A0R8U6, A1CKJ0, A1CR32, A1D405, A1D6X9, A2RB17, A2XKG2, A3LP87, A3LS22, A4R8G3, A4RGD1, A5AA68, A5DKW3, A5DLE0, A5DQF1, A5E0U9, A5E6W6, A6QRQ7, A6QXC1, A6RW56, A6SFV4, A6ZSX1, A6ZT77, A7E436, A7EML8, A7TJM9, A7TK63, A7TS37, P0C2N8, P0CR00, P0CR01, P0CR02, P0CR03, P34580, P38712, P38719, P96614, Q07886, Q0CIQ3, Q0CNX1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 6 | 9.8× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1687 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:18919852:GGAGG:G | donor_gain | 1.0000 |
| 19:18919853:GAGG:G | donor_gain | 1.0000 |
| 19:18919853:GAGGG:G | donor_gain | 1.0000 |
| 19:18919854:AGG:A | donor_gain | 1.0000 |
| 19:18919855:GG:G | donor_gain | 1.0000 |
| 19:18919855:GGG:G | donor_gain | 1.0000 |
| 19:18919856:GG:G | donor_gain | 1.0000 |
| 19:18919857:G:GG | donor_gain | 1.0000 |
| 19:18919858:T:A | donor_loss | 1.0000 |
| 19:18919861:G:GG | donor_gain | 1.0000 |
| 19:18920573:A:AG | acceptor_gain | 1.0000 |
| 19:18920575:CCCA:C | acceptor_loss | 1.0000 |
| 19:18920577:CAG:C | acceptor_loss | 1.0000 |
| 19:18920578:A:AG | acceptor_gain | 1.0000 |
| 19:18920578:AGG:A | acceptor_loss | 1.0000 |
| 19:18920579:G:GG | acceptor_gain | 1.0000 |
| 19:18920704:G:C | donor_loss | 1.0000 |
| 19:18920704:G:GG | donor_gain | 1.0000 |
| 19:18920705:T:G | donor_loss | 1.0000 |
| 19:18921654:C:G | acceptor_gain | 1.0000 |
| 19:18921662:GGGA:G | acceptor_gain | 1.0000 |
| 19:18921747:GG:G | donor_gain | 1.0000 |
| 19:18921748:GG:G | donor_gain | 1.0000 |
| 19:18921838:CCCAG:C | acceptor_loss | 1.0000 |
| 19:18921840:CAGAC:C | acceptor_loss | 1.0000 |
| 19:18921841:A:AG | acceptor_gain | 1.0000 |
| 19:18921842:G:GT | acceptor_gain | 1.0000 |
| 19:18921842:GA:G | acceptor_gain | 1.0000 |
| 19:18921842:GAC:G | acceptor_gain | 1.0000 |
| 19:18921842:GACA:G | acceptor_gain | 1.0000 |
AlphaMissense
3129 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:18920703:G:T | R80M | 1.000 |
| 19:18924239:C:G | C261W | 1.000 |
| 19:18924883:G:C | G311R | 1.000 |
| 19:18924956:G:C | R335P | 1.000 |
| 19:18921668:T:C | L82P | 0.999 |
| 19:18921740:G:A | G106D | 0.999 |
| 19:18921888:T:A | V124D | 0.999 |
| 19:18921893:G:C | A126P | 0.999 |
| 19:18921894:C:A | A126D | 0.999 |
| 19:18921903:G:A | G129E | 0.999 |
| 19:18921905:C:A | R130S | 0.999 |
| 19:18922336:A:C | E153A | 0.999 |
| 19:18922336:A:T | E153V | 0.999 |
| 19:18922337:G:C | E153D | 0.999 |
| 19:18922337:G:T | E153D | 0.999 |
| 19:18922728:T:C | F254L | 0.999 |
| 19:18922730:C:A | F254L | 0.999 |
| 19:18922730:C:G | F254L | 0.999 |
| 19:18924238:G:A | C261Y | 0.999 |
| 19:18924675:T:C | L302P | 0.999 |
| 19:18924680:G:C | A304P | 0.999 |
| 19:18924681:C:A | A304E | 0.999 |
| 19:18924684:C:T | T305I | 0.999 |
| 19:18924693:C:A | A308D | 0.999 |
| 19:18924699:G:C | R310P | 0.999 |
| 19:18924884:G:A | G311D | 0.999 |
| 19:18924887:T:C | L312P | 0.999 |
| 19:18924952:C:G | H334D | 0.999 |
| 19:18924962:G:A | G337D | 0.999 |
| 19:18924964:C:G | R338G | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000062098 (19:18928985 C>A), RS1000140536 (19:18925571 C>T), RS1000244 (19:18919658 A>C,G), RS1000245 (19:18920278 C>G), RS1000453351 (19:18918589 A>C), RS1000694983 (19:18924204 G>T), RS1000744008 (19:18924452 C>G,T), RS1002072452 (19:18928992 A>C,G), RS1002539667 (19:18923857 G>A), RS1002603895 (19:18923878 G>C), RS1002814135 (19:18919092 C>T), RS1003037538 (19:18927780 G>T), RS1004209945 (19:18927462 A>G), RS1004228262 (19:18917726 C>G,T), RS1004644066 (19:18927713 C>T)
Disease associations
OMIM: gene `` | 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 |
|---|---|---|
| GCST003071_4 | Cerebrospinal P-tau181p levels | 3.000000e-06 |
| GCST003078_1 | Cerebrospinal fluid p-Tau181p:AB1-42 ratio | 3.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004763 | p-tau measurement |
| EFO:0007709 | p-tau:beta-amyloid 1-42 ratio measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| ginger extract | decreases expression, decreases reaction, increases abundance | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression, decreases reaction, increases abundance | 1 |
| Sunitinib | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Oils, Volatile | decreases expression, decreases reaction, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Aflatoxin B1 | affects cotreatment, decreases expression | 1 |
| beta-Naphthoflavone | decreases expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.