DHX32
geneOn this page
Also known as FLJ10889FLJ10694DHLP1
Summary
DHX32 (DEAH-box helicase 32 (putative), HGNC:16717) is a protein-coding gene on chromosome 10q26.2, encoding Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 (Q7L7V1).
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined.
Source: NCBI Gene 55760 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC) — +2 more curated relationships
- GWAS associations: 3
- Clinical variants (ClinVar): 257 total
- Druggable target: yes
- MANE Select transcript:
NM_018180
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16717 |
| Approved symbol | DHX32 |
| Name | DEAH-box helicase 32 (putative) |
| Location | 10q26.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10889, FLJ10694, DHLP1 |
| Ensembl gene | ENSG00000089876 |
| Ensembl biotype | protein_coding |
| OMIM | 607960 |
| Entrez | 55760 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000284690, ENST00000368721, ENST00000415732, ENST00000900795, ENST00000900796, ENST00000963219, ENST00000963220, ENST00000963221
RefSeq mRNA: 1 — MANE Select: NM_018180
NM_018180
CCDS: CCDS7652
Canonical transcript exons
ENST00000284690 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001016202 | 125853961 | 125854203 |
| ENSE00001432213 | 125836337 | 125836855 |
| ENSE00001605803 | 125866990 | 125867183 |
| ENSE00001616174 | 125859603 | 125859975 |
| ENSE00001616476 | 125841743 | 125841934 |
| ENSE00001703710 | 125838206 | 125838387 |
| ENSE00001711821 | 125880543 | 125881292 |
| ENSE00001713789 | 125840847 | 125840996 |
| ENSE00001737019 | 125852293 | 125852451 |
| ENSE00001784227 | 125839001 | 125839188 |
| ENSE00003567692 | 125852543 | 125852642 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 96.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3276 / max 54.2742, expressed in 1737 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111909 | 7.0897 | 1734 |
| 111908 | 0.1038 | 27 |
| 111907 | 0.0824 | 50 |
| 111906 | 0.0516 | 23 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 96.37 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.13 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 95.60 | gold quality |
| squamous epithelium | UBERON:0006914 | 95.41 | gold quality |
| parotid gland | UBERON:0001831 | 95.32 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.28 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.77 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.74 | gold quality |
| gingiva | UBERON:0001828 | 94.73 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.64 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.58 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.33 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.24 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.06 | gold quality |
| type B pancreatic cell | CL:0000169 | 94.01 | silver quality |
| nasal cavity mucosa | UBERON:0001826 | 93.99 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.98 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.93 | gold quality |
| olfactory bulb | UBERON:0002264 | 93.85 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.59 | gold quality |
| myocardium | UBERON:0002349 | 93.48 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 93.35 | gold quality |
| rectum | UBERON:0001052 | 93.30 | gold quality |
| body of tongue | UBERON:0011876 | 93.19 | gold quality |
| male germ cell | CL:0000015 | 93.03 | gold quality |
| upper arm skin | UBERON:0004263 | 92.91 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.88 | gold quality |
| secondary oocyte | CL:0000655 | 92.77 | gold quality |
| sperm | CL:0000019 | 92.72 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting DHX32, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-642A-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-642B-3P | 99.23 | 67.67 | 1258 |
Literature-anchored findings (GeneRIF, showing 9)
- Structural characterization and expression of the DDX32 gene. Expression studies show that DDX32 is widespread but specifically down-regulated in acute lymphoblastic leukemias and might play a role in normal and/or abnormal lymphopoiesis. (PMID:12163057)
- cloned DHX32 proximal promoter and identified a 218bp fragment containing two potential binding sites for the transcription factor nuclear factor of activated T cells (NF-AT) (PMID:16414036)
- These results suggest that DHX32 is a putative RNA helicase that might be involved in regulating nuclear and mitochondrial gene expression. (PMID:16959245)
- dysregulated expression of DHX32 might lead to as of yet unknown changes in mitochondrial homeostasis manifested by cytoplasmic redistribution of the molecular chaperon Hsp60 (PMID:17174952)
- In peripheral blood lymphocytes, a correlation between DHX32 and c-FLIP short expression was detected in response to different T-cell activation stimuli. Results suggest DHX32 involvement in regulating T-cell response to apoptotic stimuli. (PMID:17352256)
- DHX32 may play an important role in the development of colorectal cancer and could serve as a novel biomarker for colorectal cancer after additional investigation. (PMID:19161603)
- DHX32 is an upstream regulator for beta-catenin, which promotes the activity of beta-catenin to upregulate expression of VEGFA in colorectal cancer cells. Depletion of DHX32 expression suppressed colorectal cancer tumor angiogenesis and tumor growth. (PMID:28330603)
- Hypoxia-induced changes in intragenic DNA methylation correlate with alternative splicing in breast cancer. (PMID:31965981)
- DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the beta-catenin pathway. (PMID:33729094)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dhx32a | ENSDARG00000077461 |
| danio_rerio | dhx32b | ENSDARG00000079029 |
| mus_musculus | Dhx32 | ENSMUSG00000030986 |
| rattus_norvegicus | Dhx32 | ENSRNOG00000018119 |
Paralogs (18): DHX33 (ENSG00000005100), YTHDC2 (ENSG00000047188), DHX29 (ENSG00000067248), DHX8 (ENSG00000067596), DHX35 (ENSG00000101452), DHX40 (ENSG00000108406), DHX15 (ENSG00000109606), HELB (ENSG00000127311), DHX30 (ENSG00000132153), DHX34 (ENSG00000134815), DHX9 (ENSG00000135829), DHX38 (ENSG00000140829), DQX1 (ENSG00000144045), DHX37 (ENSG00000150990), TDRD9 (ENSG00000156414), DHX57 (ENSG00000163214), DHX36 (ENSG00000174953), DHX16 (ENSG00000204560)
Protein
Protein identifiers
Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 — Q7L7V1 (reviewed: Q7L7V1)
Alternative names: DEAD/H box 32, DEAD/H helicase-like protein 1, DEAH box protein 32, HuDDX32
All UniProt accessions (3): Q7L7V1, X6R717, X6RHK1
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus. Mitochondrion.
Tissue specificity. Expressed in lymphoid tissues (at protein level). Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung, lymphoid tissues and blood leukocytes.
Induction. Up-regulated by ionomycin in T-lymphocytes. Down-regulated in acute lymphoblastic leukemia.
Similarity. Belongs to the DEAD box helicase family. DEAH subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7L7V1-1 | 1 | yes |
| Q7L7V1-2 | 2 |
RefSeq proteins (1): NP_060650* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007502 | Helicase-assoc_dom | Domain |
| IPR011709 | DEAD-box_helicase_OB_fold | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR048333 | HA2_WH | Domain |
Pfam: PF04408, PF07717, PF21010
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (21 total): sequence conflict 10, sequence variant 4, chain 1, domain 1, region of interest 1, short sequence motif 1, binding site 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L7V1-F1 | 86.34 | 0.69 |
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): 85–92
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, TTTGTAG_MIR520D, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, RAMPON_ENRICHED_LEARNING_ENVIRONMENT_LATE_UP, GOCC_SPLICEOSOMAL_COMPLEX, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, ROVERSI_GLIOMA_COPY_NUMBER_DN, COULOUARN_TEMPORAL_TGFB1_SIGNATURE_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, TEF_Q6
GO Biological Process (0):
GO Molecular Function (8): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): spliceosomal complex (GO:0005681), mitochondrion (GO:0005739), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 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 |
| catalytic activity | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2428 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DHX32 | BCCIP | Q9P287 | 960 |
| DHX32 | UROS | P10746 | 886 |
| DHX32 | FANK1 | Q8TC84 | 673 |
| DHX32 | FAM199X | Q6PEV8 | 580 |
| DHX32 | BYSL | Q13895 | 575 |
| DHX32 | ABT1 | Q9ULW3 | 542 |
| DHX32 | DDX49 | Q9Y6V7 | 527 |
| DHX32 | GRIFIN | A4D1Z8 | 512 |
| DHX32 | DDX10 | Q13206 | 501 |
| DHX32 | MEAK7 | Q6P9B6 | 488 |
| DHX32 | DDX55 | Q8NHQ9 | 485 |
| DHX32 | BRIX1 | Q8TDN6 | 483 |
| DHX32 | ZBTB8B | Q8NAP8 | 470 |
| DHX32 | ZNF717 | Q9BY31 | 460 |
| DHX32 | ZNF595 | Q8IYB9 | 448 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM161A | DHX32 | psi-mi:“MI:0915”(physical association) | 0.840 |
| DHX32 | FAM161A | psi-mi:“MI:0915”(physical association) | 0.840 |
| DHX32 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| LIPH | LRP5 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL17 | KLHL2 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC27 | HMOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL16 | MRPL2 | psi-mi:“MI:0914”(association) | 0.530 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L14 | psi-mi:“MI:0914”(association) | 0.350 | |
| NT5C3A | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| VMP1 | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF785 | CASK | psi-mi:“MI:0914”(association) | 0.350 |
| ZBBX | ZZEF1 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | B4GALT3 | psi-mi:“MI:0914”(association) | 0.350 |
| LIPH | B4GALT5 | psi-mi:“MI:0914”(association) | 0.350 |
| NOBOX | CDK2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF136 | STAT4 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM153A | ANKRD13D | psi-mi:“MI:0914”(association) | 0.350 |
| SSX7 | DHX32 | psi-mi:“MI:0914”(association) | 0.350 |
| NPAS1 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| DKKL1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | RCCD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (59): FAM161A (Two-hybrid), DHX32 (Affinity Capture-MS), DHX32 (Affinity Capture-MS), DHX32 (Affinity Capture-MS), DHX32 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), DHX32 (Affinity Capture-MS), POLRMT (Affinity Capture-MS), DHX32 (Affinity Capture-RNA), FAM161A (Two-hybrid), DHX32 (Affinity Capture-MS), DHX32 (Affinity Capture-RNA), DHX32 (Affinity Capture-MS), DHX32 (Affinity Capture-MS)
ESM2 similar proteins: A0A0U1RQE8, F1S5L4, O43010, O77512, P06592, P13233, P14714, P42498, P49895, P55004, P97564, Q07071, Q09305, Q0P464, Q0P4Y1, Q1LYL8, Q2KHV5, Q2KIR7, Q3UW68, Q5BK10, Q5FW57, Q5GJ77, Q5PQT3, Q5RFP0, Q60462, Q61586, Q62240, Q64112, Q6IB77, Q6MZZ7, Q6P5U7, Q6QN13, Q6QR59, Q6V915, Q7L7V1, Q804E1, Q8CBA2, Q8T773, Q8WU03, Q91754
Diamond homologs: A1Z9L3, A2A4P0, B4GEU5, B4JT42, B4K5R2, B4RC48, D4A2Z8, F4HYJ7, F4IE66, F4IJV4, F4ILR7, F4IM84, F4JMJ3, F4JRJ6, F4K2E9, F4KGU4, O17438, O22243, O22899, O35286, O42643, O42945, O43143, O45244, O46072, O51767, O60114, O60231, O70133, O94536, P0C7L7, P0CE10, P15938, P20095, P24384, P34305, P34498, P36009, P37024, P43329
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
257 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 156 |
| Likely benign | 77 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1614 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:125838201:CTT:C | donor_loss | 1.0000 |
| 10:125838202:TTA:T | donor_loss | 1.0000 |
| 10:125838203:TAC:T | donor_loss | 1.0000 |
| 10:125838204:A:AC | donor_gain | 1.0000 |
| 10:125838204:AC:A | donor_loss | 1.0000 |
| 10:125838205:C:CG | donor_gain | 1.0000 |
| 10:125838205:CA:C | donor_gain | 1.0000 |
| 10:125838205:CAG:C | donor_gain | 1.0000 |
| 10:125838205:CAGT:C | donor_gain | 1.0000 |
| 10:125838205:CAGTT:C | donor_gain | 1.0000 |
| 10:125838383:GCAAT:G | acceptor_gain | 1.0000 |
| 10:125838384:CAAT:C | acceptor_gain | 1.0000 |
| 10:125838384:CAATC:C | acceptor_gain | 1.0000 |
| 10:125838385:AAT:A | acceptor_gain | 1.0000 |
| 10:125838386:AT:A | acceptor_gain | 1.0000 |
| 10:125838387:TCTGA:T | acceptor_loss | 1.0000 |
| 10:125838388:C:CC | acceptor_gain | 1.0000 |
| 10:125838396:CAGAA:C | acceptor_gain | 1.0000 |
| 10:125838397:A:T | acceptor_gain | 1.0000 |
| 10:125838400:A:AC | acceptor_gain | 1.0000 |
| 10:125838400:A:C | acceptor_gain | 1.0000 |
| 10:125838401:T:C | acceptor_gain | 1.0000 |
| 10:125838401:T:TC | acceptor_gain | 1.0000 |
| 10:125838402:T:C | acceptor_gain | 1.0000 |
| 10:125838402:T:TC | acceptor_gain | 1.0000 |
| 10:125838403:T:C | acceptor_gain | 1.0000 |
| 10:125838403:T:TC | acceptor_gain | 1.0000 |
| 10:125838995:TCTCA:T | donor_loss | 1.0000 |
| 10:125838996:CTCA:C | donor_loss | 1.0000 |
| 10:125838997:TCA:T | donor_loss | 1.0000 |
AlphaMissense
4916 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:125867041:A:T | V142D | 0.998 |
| 10:125867075:C:G | A131P | 0.998 |
| 10:125867174:A:G | W98R | 0.998 |
| 10:125867174:A:T | W98R | 0.998 |
| 10:125866993:A:G | L158P | 0.997 |
| 10:125867063:C:G | D135H | 0.997 |
| 10:125867169:A:C | C99W | 0.997 |
| 10:125867171:A:G | C99R | 0.997 |
| 10:125867059:A:T | V136D | 0.996 |
| 10:125880671:A:C | Y52D | 0.996 |
| 10:125867038:C:T | G143D | 0.995 |
| 10:125867074:G:T | A131E | 0.995 |
| 10:125880601:A:G | L75P | 0.995 |
| 10:125880702:G:C | N41K | 0.995 |
| 10:125880702:G:T | N41K | 0.995 |
| 10:125839014:C:T | G623D | 0.994 |
| 10:125867086:G:T | A127D | 0.994 |
| 10:125838279:A:G | W664R | 0.993 |
| 10:125838279:A:T | W664R | 0.993 |
| 10:125838383:G:T | A629D | 0.993 |
| 10:125841853:C:T | G478E | 0.993 |
| 10:125841854:C:G | G478R | 0.993 |
| 10:125841854:C:T | G478R | 0.993 |
| 10:125867167:G:T | A100D | 0.993 |
| 10:125867172:C:A | W98C | 0.993 |
| 10:125867172:C:G | W98C | 0.993 |
| 10:125841886:G:T | A467E | 0.992 |
| 10:125841892:A:G | L465P | 0.992 |
| 10:125867039:C:G | G143R | 0.992 |
| 10:125867182:A:T | V95D | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000006982 (10:125884989 T>C), RS1000118253 (10:125897920 G>A), RS1000227523 (10:125882970 A>G), RS1000237999 (10:125897509 C>G), RS1000324600 (10:125856755 G>A,C), RS1000341279 (10:125851359 C>G), RS1000386519 (10:125856982 A>G), RS1000479301 (10:125838787 G>A), RS1000509601 (10:125862049 C>T), RS1000536201 (10:125838068 T>G), RS1000568413 (10:125894584 A>C), RS1000575446 (10:125863687 G>A), RS1000778407 (10:125848735 G>A), RS1000824454 (10:125856638 A>G,T), RS1000824898 (10:125849090 A>G)
Disease associations
OMIM: gene MIM:607960 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Moderate | Autosomal dominant |
| retinal disorder | Limited | Autosomal recessive |
| retinitis pigmentosa | Limited | Autosomal recessive |
Mondo (4): thyroid tumor (MONDO:0015074), retinal disorder (MONDO:0005283), neurodevelopmental disorder (MONDO:0700092), retinitis pigmentosa (MONDO:0019200)
Orphanet (1): Rare thyroid tumor (Orphanet:100087)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002390_500 | Mean corpuscular hemoglobin | 9.000000e-16 |
| GCST90002392_552 | Mean corpuscular volume | 1.000000e-13 |
| GCST90002403_233 | Red blood cell count | 3.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004305 | erythrocyte count |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D012164 | Retinal Diseases | C11.768 |
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465324 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases 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 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5391274 | Binding | Inhibition of N-terminal thioredoxin-tagged human recombinant DHX32 transformed in Escherichia coli BL21(DE3)pLysS cells | Development of small molecule inhibitors targeting RNA helicase DHX33 as anti-cancer agents. — Bioorg Med Chem Lett |
Clinical trials (associated diseases)
484 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01955135 | PHASE4 | COMPLETED | Anesthesia for Retinopathy of Prematurity |
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00001730 | PHASE4 | COMPLETED | Study of Radioiodine (131-I) Uptake Following Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal. |
| NCT00385983 | PHASE4 | UNKNOWN | Total Thyroidectomy With Harmonic Scalpel® |
| NCT00400465 | PHASE4 | COMPLETED | Is the Routine Pressure Dressing After Thyroidectomy Necessary? |
| NCT01308320 | PHASE4 | COMPLETED | Dose-dependent Effect of Fentanyl on Cough Attenuation During Emergence From General Anaesthesia |
| NCT03469310 | PHASE4 | COMPLETED | Minimizing Narcotic Analgesics After Endocrine Surgery |
| NCT03573960 | PHASE4 | COMPLETED | A Study to Evaluate the Safety and Efficacy of Lenvatinib in Participants With Refractory Differentiated Thyroid Cancer |
| NCT04574947 | PHASE4 | COMPLETED | Lidocaine And Neuromonitoring in Thyroid Surgery |
| NCT07010393 | PHASE4 | NOT_YET_RECRUITING | Genotype-Driven Neoadjuvant Therapy for Locally Advanced Thyroid Cancer: A Real-World Cohort Study |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT00000114 | PHASE3 | COMPLETED | Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa |
| NCT00000116 | PHASE3 | COMPLETED | Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A |
| NCT00346333 | PHASE3 | COMPLETED | Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A |
| NCT01786395 | PHASE3 | TERMINATED | Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa |
| NCT04224207 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells |
| NCT04636853 | PHASE3 | COMPLETED | CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration |
| NCT05537220 | PHASE3 | ACTIVE_NOT_RECRUITING | Oral N-acetylcysteine for Retinitis Pigmentosa |
| NCT05800301 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision |
| NCT05926583 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa |
| NCT06388200 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa |
| NCT07082855 | PHASE3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| NCT07290530 | PHASE3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT00115895 | PHASE3 | UNKNOWN | The Dose of Radioactive Iodine Needed to Ablate the Thyroid Remnant Left Behind After Thyroidectomy |
| NCT00144079 | PHASE3 | COMPLETED | Multicenter Study Differentiated Thyroid Carcinoma |
| NCT00196729 | PHASE3 | COMPLETED | Comparison of the Safety and Successful Ablation of Thyroid Remnant in Post-thyroidectomized Euthyroid Patients (i.e. Patients Administered Thyrogen) Versus Hypothyroid Patients (no Thyrogen) Following 131I Administration |
| NCT00984282 | PHASE3 | COMPLETED | Nexavar® Versus Placebo in Locally Advanced/Metastatic RAI-Refractory Differentiated Thyroid Cancer |
| NCT01551914 | PHASE3 | UNKNOWN | Medico-economic Evaluation Comparing the Use of Ultrasonic Scissors to the Conventional Techniques of Haemostasis in Thyroid Surgery by Cervicotomy |
| NCT02112370 | PHASE3 | COMPLETED | Efficacy of Ropivacaine (With Epinephrine) in BABA Endoscopic and Robotic Thyroidectomy |
| NCT01373476 | PHASE2 | COMPLETED | Multicentre, Randomized, Controlled Trial of Qideng Mingmu Capsule in The Treatment of Diabetic Retinopathy |
| NCT01793090 | PHASE2 | COMPLETED | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00100230 | PHASE2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
Related Atlas pages
- Associated diseases: retinal disorder, neurodevelopmental disorder, retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): retinal disorder, retinitis pigmentosa, thyroid tumor