TDRD7
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Also known as PCTAIRE2BP
Summary
TDRD7 (tudor domain containing 7, HGNC:30831) is a protein-coding gene on chromosome 9q22.33, encoding Tudor domain-containing protein 7 (Q8NHU6). Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation.
The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 23424 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cataract 36 (Strong, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 284 total — 7 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 2
- Druggable target: yes
- MANE Select transcript:
NM_014290
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30831 |
| Approved symbol | TDRD7 |
| Name | tudor domain containing 7 |
| Location | 9q22.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PCTAIRE2BP |
| Ensembl gene | ENSG00000196116 |
| Ensembl biotype | protein_coding |
| OMIM | 611258 |
| Entrez | 23424 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000355295, ENST00000492428, ENST00000861597, ENST00000861598, ENST00000861599, ENST00000936488, ENST00000936489, ENST00000943578, ENST00000943579
RefSeq mRNA: 2 — MANE Select: NM_014290
NM_001302884, NM_014290
CCDS: CCDS6725
Canonical transcript exons
ENST00000355295 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000805642 | 97487172 | 97487332 |
| ENSE00000805643 | 97482849 | 97483351 |
| ENSE00000805644 | 97480828 | 97480938 |
| ENSE00000805645 | 97478439 | 97478573 |
| ENSE00000805646 | 97475383 | 97475469 |
| ENSE00001624435 | 97460178 | 97460764 |
| ENSE00001650004 | 97464842 | 97465028 |
| ENSE00001723656 | 97439245 | 97439318 |
| ENSE00001751380 | 97432025 | 97432238 |
| ENSE00001789451 | 97441658 | 97441875 |
| ENSE00001829042 | 97495663 | 97496125 |
| ENSE00001919631 | 97412096 | 97412238 |
| ENSE00002231144 | 97428460 | 97428672 |
| ENSE00003515299 | 97472293 | 97472495 |
| ENSE00003540266 | 97473492 | 97473626 |
| ENSE00003647052 | 97430933 | 97431074 |
| ENSE00003670688 | 97470558 | 97470669 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 93.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9168 / max 445.3931, expressed in 1590 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 97551 | 6.8017 | 1587 |
| 97550 | 0.1151 | 53 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 93.77 | gold quality |
| oocyte | CL:0000023 | 93.19 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.17 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.77 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.21 | gold quality |
| sperm | CL:0000019 | 88.42 | gold quality |
| globus pallidus | UBERON:0001875 | 88.23 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 88.16 | gold quality |
| monocyte | CL:0000576 | 88.05 | gold quality |
| mononuclear cell | CL:0000842 | 87.98 | gold quality |
| male germ cell | CL:0000015 | 87.78 | gold quality |
| duodenum | UBERON:0002114 | 87.74 | gold quality |
| leukocyte | CL:0000738 | 87.70 | gold quality |
| adult organism | UBERON:0007023 | 87.16 | gold quality |
| testis | UBERON:0000473 | 87.07 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 86.90 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.85 | gold quality |
| left testis | UBERON:0004533 | 86.83 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.79 | gold quality |
| right testis | UBERON:0004534 | 86.60 | gold quality |
| spinal cord | UBERON:0002240 | 86.54 | gold quality |
| rectum | UBERON:0001052 | 86.47 | gold quality |
| frontal pole | UBERON:0002795 | 86.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.30 | gold quality |
| bronchial epithelial cell | CL:0002328 | 86.25 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.17 | gold quality |
| jejunum | UBERON:0002115 | 85.77 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 85.76 | gold quality |
| ileal mucosa | UBERON:0000331 | 85.59 | gold quality |
| bronchus | UBERON:0002185 | 85.35 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting TDRD7, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-4680-3P | 98.64 | 68.60 | 2093 |
| HSA-MIR-6755-3P | 98.61 | 66.90 | 834 |
| HSA-MIR-5187-3P | 97.28 | 67.10 | 1037 |
| HSA-MIR-3664-5P | 96.74 | 66.56 | 770 |
Literature-anchored findings (GeneRIF, showing 6)
- study describes 2 cases of pediatric cataract with loss-of-function mutations in TDRD7; TDRD7 coimmunoprecipitates with specific lens mRNAs; required for posttranscriptional control of mRNAs critical to normal lens development and RNA granule function (PMID:21436445)
- present study suggests that the rs10981985 G –> A variant within the TDRD7 gene may protect against cortical age-related cataract in a Han Chinese population (PMID:24435515)
- Human cataracts and the TDRD7 gene loss-of-function mutations are strongly causally related, as the expression level of plasma TDRD7 mRNA in patients with cataracts was statistically significantly lower than in the normal control group. (PMID:25120344)
- Our purpose was to uncover novel human mutations and genes causing familial nonobstructive azoospermia and congenital cataract. Two novel loss-of-function mutations (c.324_325insA (T110Nfs*30) and c.688_689insA (p.Y230X), respectively) of TDRD7 were found in the affected patients (PMID:31048812)
- The interferon-inducible protein TDRD7 inhibits AMP-activated protein kinase and thereby restricts autophagy-independent virus replication. (PMID:32273341)
- TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation. (PMID:33618632)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tdrd7a | ENSDARG00000032808 |
| danio_rerio | tdrd7b | ENSDARG00000077523 |
| mus_musculus | Tdrd7 | ENSMUSG00000035517 |
| rattus_norvegicus | Tdrd7 | ENSRNOG00000055779 |
Paralogs (6): TDRD1 (ENSG00000095627), TDRD5 (ENSG00000162782), TDRD10 (ENSG00000163239), TDRD6 (ENSG00000180113), TDRKH (ENSG00000182134), TDRD15 (ENSG00000218819)
Protein
Protein identifiers
Tudor domain-containing protein 7 — Q8NHU6 (reviewed: Q8NHU6)
Alternative names: PCTAIRE2-binding protein, Tudor repeat associator with PCTAIRE-2
All UniProt accessions (1): Q8NHU6
UniProt curated annotations — full annotation on UniProt →
Function. Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis.
Subunit / interactions. Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Found in a complex containing CABLES1, CDK16 and CDK17. Interacts with CABLES1, CDK17 and PIWIL1.
Subcellular location. Cytoplasm.
Disease relevance. Cataract 36 (CTRCT36) [MIM:613887] An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TDRD7 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NHU6-1 | 1 | yes |
| Q8NHU6-2 | 2 | |
| Q8NHU6-3 | 3 |
RefSeq proteins (2): NP_001289813, NP_055105* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002999 | Tudor | Domain |
| IPR025605 | OST-HTH/LOTUS_dom | Domain |
| IPR035437 | SNase_OB-fold_sf | Homologous_superfamily |
| IPR037978 | TDRD7_LOTUS_3 | Domain |
| IPR041966 | LOTUS-like | Homologous_superfamily |
| IPR047448 | Tudor_TDRD7_rpt2 | Domain |
| IPR047449 | Tudor_TDRD7_rpt3 | Domain |
| IPR050621 | Tudor_domain_containing | Family |
Pfam: PF00567, PF12872
UniProt features (26 total): domain 5, region of interest 4, splice variant 3, sequence variant 3, helix 3, modified residue 2, turn 2, strand 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3RCO | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NHU6-F1 | 73.60 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 319, 859
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 309 (showing top):
GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, GOBP_EMBRYONIC_AXIS_SPECIFICATION, GOBP_OOGENESIS, GOBP_MALE_GAMETE_GENERATION, BOYLAN_MULTIPLE_MYELOMA_D_DN, EFC_Q6, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, BENNETT_SYSTEMIC_LUPUS_ERYTHEMATOSUS, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_CELL_MATURATION, GOBP_EMBRYONIC_PATTERN_SPECIFICATION
GO Biological Process (7): lens morphogenesis in camera-type eye (GO:0002089), spermatogenesis (GO:0007283), post-transcriptional regulation of gene expression (GO:0010608), P granule organization (GO:0030719), piRNA processing (GO:0034587), lens fiber cell differentiation (GO:0070306), cell differentiation (GO:0030154)
GO Molecular Function (3): mRNA binding (GO:0003729), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), chromatoid body (GO:0033391), ribonucleoprotein granule (GO:0035770), P granule (GO:0043186)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lens development in camera-type eye | 2 |
| cytoplasmic ribonucleoprotein granule | 2 |
| anatomical structure morphogenesis | 1 |
| camera-type eye morphogenesis | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| regulation of gene expression | 1 |
| organelle organization | 1 |
| pole plasm assembly | 1 |
| regulatory ncRNA processing | 1 |
| epithelial cell differentiation | 1 |
| cellular developmental process | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| supramolecular complex | 1 |
| germ plasm | 1 |
Protein interactions and networks
STRING
1474 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TDRD7 | CCDC180 | Q9P1Z9 | 916 |
| TDRD7 | CDK17 | Q00537 | 910 |
| TDRD7 | CABLES1 | Q8TDN4 | 898 |
| TDRD7 | CDK18 | Q07002 | 795 |
| TDRD7 | DND1 | Q8IYX4 | 782 |
| TDRD7 | TDRD9 | Q8NDG6 | 775 |
| TDRD7 | PIWIL1 | Q96J94 | 770 |
| TDRD7 | PIWIL2 | Q8TC59 | 769 |
| TDRD7 | NANOS1 | Q8WY41 | 715 |
| TDRD7 | CDK16 | Q00536 | 703 |
| TDRD7 | DDX25 | Q9UHL0 | 672 |
| TDRD7 | MARF1 | Q9Y4F3 | 670 |
| TDRD7 | TACC1 | O75410 | 652 |
| TDRD7 | CRYAA | P02489 | 627 |
| TDRD7 | BFSP1 | Q12934 | 620 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TDRD7 | GABPB1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| GABPB1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PIMREG | MTA2 | psi-mi:“MI:0914”(association) | 0.600 |
| TACC1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.580 |
| TDRD7 | TACC1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| TDRD7 | TACC1 | psi-mi:“MI:0914”(association) | 0.580 |
| CDKN2A | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TDRD7 | CDKN2A | psi-mi:“MI:0915”(physical association) | 0.510 |
| TDRD7 | HSPD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TDRD7 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | NLGN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | SHANK3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BUB1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCND1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | CTNNA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | DCC | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | DLC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MLH1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | MLH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | MSH2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | MUTYH | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | NRAS | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (69): TDRD7 (Two-hybrid), TDRD7 (Two-hybrid), TDRD7 (Affinity Capture-MS), TDRD7 (Affinity Capture-MS), TDRD7 (Affinity Capture-MS), TDRD7 (Two-hybrid), MAGEA8 (Two-hybrid), TDRD7 (Affinity Capture-MS), TDRD7 (Affinity Capture-MS), TDRD7 (Affinity Capture-MS), TDRD7 (Two-hybrid), TACC1 (Reconstituted Complex), TDRD7 (Affinity Capture-Western), CDK17 (Affinity Capture-Western), TACC1 (Affinity Capture-Western)
ESM2 similar proteins: A0JM98, A1L1H3, A6NAF9, A6QLE1, A9CPT4, B5MCY1, D2H0H6, D2H3M0, D4A7V9, E1BPH3, E1C3S7, E2QTD3, E2RDV1, E7FDW8, F1R237, O60522, P57075, P61407, P97874, Q14B46, Q1L981, Q4R3G4, Q58EK5, Q5DTW2, Q5JTW2, Q5M7P8, Q5RAH6, Q5VCS6, Q5VZ19, Q5XGX5, Q61846, Q68DX3, Q6NU04, Q80VK6, Q8K1H1, Q8NAT2, Q8NHU6, Q90WE3, Q99KY4, Q99MV1
Diamond homologs: A0JM98, A1L1H3, A6NAF9, A6QLE1, B4F7C4, D2H0H6, D2H3M0, E1BPH3, E1C3S7, E2QTD3, E2RDV1, E7FDW8, Q1L981, Q5M7P8, Q5RAH6, Q5VCS6, Q6NU04, Q8K1H1, Q8NAT2, Q8NHU6, Q9R1R4, H9JD76, Q80VL1, Q9VQ91, Q4R3G4, Q9BXT8, Q9Y2W6, Q99MV1, Q9BXT4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 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 |
|---|---|---|---|
| Transcriptional Regulation by TP53 | 6 | 16.9× | 3e-04 |
| Cell Cycle | 6 | 9.8× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
284 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 2 |
| Uncertain significance | 177 |
| Likely benign | 37 |
| Benign | 26 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1228374 | NM_014290.3(TDRD7):c.2008C>T (p.Gln670Ter) | Pathogenic |
| 2413118 | NM_014290.3(TDRD7):c.2660del (p.Lys887fs) | Pathogenic |
| 30903 | NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del) | Pathogenic |
| 426069 | NM_014290.3(TDRD7):c.1129del (p.Ala377fs) | Pathogenic |
| 427904 | NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter) | Pathogenic |
| 427905 | NM_014290.3(TDRD7):c.328dup (p.Thr110fs) | Pathogenic |
| 4720913 | NM_014290.3(TDRD7):c.2823del (p.Met942fs) | Pathogenic |
| 2505533 | NM_014290.3(TDRD7):c.855G>A (p.Thr285=) | Likely pathogenic |
| 800981 | NM_014290.3(TDRD7):c.2539G>A (p.Asp847Asn) | Likely pathogenic |
SpliceAI
2862 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:97428552:A:T | donor_gain | 1.0000 |
| 9:97428595:C:G | donor_gain | 1.0000 |
| 9:97464834:T:A | acceptor_gain | 1.0000 |
| 9:97464841:GGTAT:G | acceptor_gain | 1.0000 |
| 9:97472291:A:AG | acceptor_gain | 1.0000 |
| 9:97472292:G:GG | acceptor_gain | 1.0000 |
| 9:97472460:GCTA:G | donor_gain | 1.0000 |
| 9:97472468:TGAC:T | donor_gain | 1.0000 |
| 9:97472493:CAG:C | donor_loss | 1.0000 |
| 9:97472494:AGGT:A | donor_loss | 1.0000 |
| 9:97472495:GGTAC:G | donor_loss | 1.0000 |
| 9:97472496:GT:G | donor_loss | 1.0000 |
| 9:97472497:T:A | donor_loss | 1.0000 |
| 9:97473485:GTTAT:G | acceptor_loss | 1.0000 |
| 9:97473486:TTATA:T | acceptor_loss | 1.0000 |
| 9:97473487:TATAG:T | acceptor_loss | 1.0000 |
| 9:97473488:ATAGG:A | acceptor_loss | 1.0000 |
| 9:97473489:TAGGT:T | acceptor_loss | 1.0000 |
| 9:97473491:G:C | acceptor_loss | 1.0000 |
| 9:97473623:CAAGG:C | donor_loss | 1.0000 |
| 9:97473624:AAG:A | donor_loss | 1.0000 |
| 9:97473625:AGGT:A | donor_loss | 1.0000 |
| 9:97473626:GGTAT:G | donor_loss | 1.0000 |
| 9:97473627:GT:G | donor_loss | 1.0000 |
| 9:97473628:T:A | donor_loss | 1.0000 |
| 9:97480897:T:G | donor_gain | 1.0000 |
| 9:97482835:T:TA | acceptor_gain | 1.0000 |
| 9:97482837:T:TA | acceptor_gain | 1.0000 |
| 9:97482845:A:AG | acceptor_gain | 1.0000 |
| 9:97482845:AAAG:A | acceptor_gain | 1.0000 |
AlphaMissense
7257 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:97428556:T:G | Y31D | 0.999 |
| 9:97480873:T:A | W783R | 0.999 |
| 9:97480873:T:C | W783R | 0.999 |
| 9:97495680:T:A | W1032R | 0.999 |
| 9:97495680:T:C | W1032R | 0.999 |
| 9:97495705:T:C | F1040S | 0.999 |
| 9:97495708:G:C | R1041P | 0.999 |
| 9:97428509:T:C | L15P | 0.998 |
| 9:97464961:C:A | A521D | 0.998 |
| 9:97464990:C:G | R531G | 0.998 |
| 9:97464991:G:C | R531P | 0.998 |
| 9:97470570:G:C | D548H | 0.998 |
| 9:97470571:A:T | D548V | 0.998 |
| 9:97487173:T:A | W973R | 0.998 |
| 9:97487173:T:C | W973R | 0.998 |
| 9:97487181:G:C | R975S | 0.998 |
| 9:97487181:G:T | R975S | 0.998 |
| 9:97487321:C:A | A1022D | 0.998 |
| 9:97428581:T:C | I39T | 0.997 |
| 9:97428644:T:A | V60D | 0.997 |
| 9:97470571:A:C | D548A | 0.997 |
| 9:97470648:G:C | A574P | 0.997 |
| 9:97483198:C:A | A921D | 0.997 |
| 9:97483333:C:A | A966D | 0.997 |
| 9:97487180:G:C | R975T | 0.997 |
| 9:97487180:G:T | R975M | 0.997 |
| 9:97487240:G:A | G995D | 0.997 |
| 9:97487327:T:A | L1024H | 0.997 |
| 9:97487327:T:C | L1024P | 0.997 |
| 9:97495737:G:C | A1051P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000012591 (9:97491050 G>A,C), RS1000085489 (9:97490473 T>C), RS1000088367 (9:97461281 G>A), RS1000141807 (9:97443161 T>G), RS1000147056 (9:97410865 A>G,T), RS1000162479 (9:97463084 C>T), RS1000184001 (9:97420536 G>A,T), RS1000293275 (9:97414984 C>CT), RS1000358674 (9:97413712 C>G), RS1000502616 (9:97461413 T>C), RS1000510117 (9:97435965 CACAT>C), RS1000517277 (9:97418064 G>T), RS1000555683 (9:97468926 A>G), RS1000567053 (9:97489258 C>G), RS1000675456 (9:97470421 C>A,T)
Disease associations
OMIM: gene MIM:611258 | disease phenotypes: MIM:613887
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cataract 36 | Strong | Autosomal recessive |
Mondo (1): cataract 36 (MONDO:0013484)
Orphanet (0):
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000518 | Cataract |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008097_32 | Bisphosphonate-associated atypical femoral fracture | 2.000000e-06 |
| GCST008155_7 | Waist-hip ratio | 6.000000e-06 |
| GCST010002_274 | Refractive error | 5.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009958 | response to bisphosphonate |
| EFO:0009960 | atypical femoral fracture |
| EFO:0004343 | waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105828 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 6 |
| methylmercuric chloride | decreases expression | 3 |
| Tretinoin | decreases expression, increases expression | 3 |
| graphene oxide | increases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| alpha phellandrene | increases expression | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Diclofenac | affects expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4034448 | Binding | Inhibition of PCTAIRE2 Lysine 2 labelling site (unknown origin) at 10 uM | Developing DYRK inhibitors derived from the meridianins as a means of increasing levels of NFAT in the nucleus. — Bioorg Med Chem Lett |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1HV | Abcam A-549 TDRD7 KO 1 | Cancer cell line | Male |
| CVCL_B2QE | Abcam A-549 TDRD7 KO 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: cataract 36
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cataract 36