NUDCD1
gene geneOn this page
Also known as CML66FLJ14991
Summary
NUDCD1 (NudC domain containing 1, HGNC:24306) is a protein-coding gene on chromosome 8q23.1, encoding NudC domain-containing protein 1 (Q96RS6).
Predicted to be involved in immune system process. Located in cytosol and nucleoplasm.
Source: NCBI Gene 84955 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 99 total
- MANE Select transcript:
NM_032869
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24306 |
| Approved symbol | NUDCD1 |
| Name | NudC domain containing 1 |
| Location | 8q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CML66, FLJ14991 |
| Ensembl gene | ENSG00000120526 |
| Ensembl biotype | protein_coding |
| OMIM | 606109 |
| Entrez | 84955 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 10 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000239690, ENST00000427660, ENST00000519607, ENST00000521439, ENST00000676569, ENST00000676990, ENST00000677182, ENST00000677737, ENST00000678094, ENST00000678168, ENST00000679027, ENST00000931096, ENST00000931097, ENST00000931098, ENST00000931099, ENST00000931100, ENST00000931101, ENST00000967053
RefSeq mRNA: 2 — MANE Select: NM_032869
NM_001128211, NM_032869
CCDS: CCDS47910, CCDS6312
Canonical transcript exons
ENST00000239690 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000981104 | 109322309 | 109322463 |
| ENSE00000981118 | 109240919 | 109243301 |
| ENSE00002119265 | 109333893 | 109334087 |
| ENSE00003477644 | 109296384 | 109296569 |
| ENSE00003480265 | 109245322 | 109245481 |
| ENSE00003500043 | 109275352 | 109275496 |
| ENSE00003537264 | 109293344 | 109293524 |
| ENSE00003579066 | 109280968 | 109281172 |
| ENSE00003599321 | 109289751 | 109289933 |
| ENSE00003605839 | 109271005 | 109271130 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 99.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9605 / max 354.6034, expressed in 1796 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 94408 | 23.5660 | 1796 |
| 94407 | 0.3944 | 187 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.09 | gold quality |
| oocyte | CL:0000023 | 93.04 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.54 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.49 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.91 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 87.89 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.69 | gold quality |
| tibialis anterior | UBERON:0001385 | 87.54 | silver quality |
| cardiac muscle of right atrium | UBERON:0003379 | 87.31 | gold quality |
| ventricular zone | UBERON:0003053 | 86.41 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.30 | gold quality |
| myocardium | UBERON:0002349 | 86.17 | silver quality |
| ganglionic eminence | UBERON:0004023 | 85.95 | gold quality |
| embryo | UBERON:0000922 | 85.94 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.35 | gold quality |
| cortical plate | UBERON:0005343 | 85.35 | gold quality |
| sperm | CL:0000019 | 85.33 | gold quality |
| deltoid | UBERON:0001476 | 85.15 | gold quality |
| pericardium | UBERON:0002407 | 85.05 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 84.74 | gold quality |
| omental fat pad | UBERON:0010414 | 84.32 | gold quality |
| peritoneum | UBERON:0002358 | 84.31 | gold quality |
| cauda epididymis | UBERON:0004360 | 84.28 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.07 | gold quality |
| placenta | UBERON:0001987 | 83.63 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.49 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.47 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 83.47 | gold quality |
| vermiform appendix | UBERON:0001154 | 83.29 | gold quality |
| lymph node | UBERON:0000029 | 83.14 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.04 |
| E-MTAB-6524 | no | 116.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
97 targeting NUDCD1, 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-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
Literature-anchored findings (GeneRIF, showing 10)
- An alternative promoter (CML66-S short isoform) has been identified in combination with alternative splicing as a novel mechanism for regulation of the epitope generation of a self-tumor antigen. (PMID:14688378)
- CML66 may play an oncogenic role in ways of favoring tumor cells proliferation, invasion and metastasis-associated with multiple pathways. (PMID:18534745)
- study identified a novel gene, OVA66, which was expressed significantly higher in cancer patients than normal controls; IgG level against OVA66 was significantly elevated in the serum of cancer patients from different histological types of cancer [OVA66] (PMID:18754882)
- the different NudCD1 isoforms have unique interacting partners, with the first isoform binding to a putative RNA helicase named DHX15 involved in mRNA splicing. (PMID:29021621)
- NudCD1 significantly increased in renal cell carcinoma and was positively correlated with cell proliferation, migration, and invasion (PMID:29461594)
- OVA66 overexpression in the cancer cell lines promoted VEGF secretion, tumour growth and angiogenesis in vitro and in vivo (PMID:30833190)
- NudCD1 Promotes the Proliferation and Metastasis of Non-Small Cell Lung Cancer Cells through the Activation of IGF1R-ERK1/2. (PMID:32634806)
- Analysis of NudCD1 and NF-kappaBeta in the early detection and course evaluation of renal cancer. (PMID:33336728)
- NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways. (PMID:36104662)
- Identifying the role of NUDCD1 in human tumors from clinical and molecular mechanisms: a study based on comprehensive bioinformatics and experimental validation. (PMID:37338527)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nudcd1 | ENSDARG00000036158 |
| mus_musculus | Nudcd1 | ENSMUSG00000038736 |
| rattus_norvegicus | Nudcd1 | ENSRNOG00000024929 |
| drosophila_melanogaster | CG10347 | FBGN0030342 |
| caenorhabditis_elegans | C44E4.5 | WBGENE00016654 |
Protein
Protein identifiers
NudC domain-containing protein 1 — Q96RS6 (reviewed: Q96RS6)
Alternative names: Chronic myelogenous leukemia tumor antigen 66, Tumor antigen CML66
All UniProt accessions (5): Q96RS6, A0A7I2V457, A0A7I2V4C4, E5RGX7, E5RHQ3
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Nucleus Cytoplasm Cytoplasm. Nucleus.
Tissue specificity. Isoform 1 is specifically expressed in leukemias and a variety of solid tumor cell lines and is also detected in testis and heart. Isoform 2 is predominantly expressed in testis and weakly expressed in tumor cells.
Miscellaneous. Isoform 1 is the dominant immunogenic isoform and is capable of eliciting a humoral response in individuals with a variety of solid tumors. Expression of isoform 1 in a wide variety of malignancies as well as the presence of an immunogenic epitope suggest that it may be a suitable target for antigen-specific immunotherapy. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96RS6-1 | 1, CML66-L | yes |
| Q96RS6-2 | 2, CML66-S | |
| Q96RS6-3 | 3 |
RefSeq proteins (2): NP_001121683, NP_116258* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007052 | CS_dom | Domain |
| IPR008978 | HSP20-like_chaperone | Homologous_superfamily |
| IPR037895 | NUDCD1 | Family |
Pfam: PF04969
UniProt features (13 total): sequence variant 4, splice variant 4, modified residue 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96RS6-F1 | 86.41 | 0.60 |
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): 8, 388
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, COUP_01, WEI_MYCN_TARGETS_WITH_E_BOX, NF1_Q6_01, HNF4_DR1_Q3, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TGGNNNNNNKCCAR_UNKNOWN, DOUGLAS_BMI1_TARGETS_UP, ZHANG_BREAST_CANCER_PROGENITORS_UP, NFE2_01, NUYTTEN_EZH2_TARGETS_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, STAT1_02
GO Biological Process (1): immune system process (GO:0002376)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| biological_process | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1224 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NUDCD1 | ENY2 | Q9NPA8 | 706 |
| NUDCD1 | NUDCD2 | Q8WVJ2 | 590 |
| NUDCD1 | EBAG9 | O00559 | 541 |
| NUDCD1 | NUDCD3 | Q8IVD9 | 506 |
| NUDCD1 | NUDC | Q9Y266 | 505 |
| NUDCD1 | EXOSC5 | Q9NQT4 | 475 |
| NUDCD1 | C8orf33 | Q9H7E9 | 445 |
| NUDCD1 | TMEM186 | Q96B77 | 434 |
| NUDCD1 | ZMAT5 | Q9UDW3 | 429 |
| NUDCD1 | ZNF189 | O75820 | 409 |
| NUDCD1 | AFTPH | Q6ULP2 | 392 |
| NUDCD1 | RSRC2 | Q7L4I2 | 378 |
| NUDCD1 | MRPL50 | Q8N5N7 | 374 |
| NUDCD1 | ZNF222 | Q9UK12 | 370 |
| NUDCD1 | ZNF623 | O75123 | 366 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DHX38 | PPP4C | psi-mi:“MI:0914”(association) | 0.730 |
| DHX38 | NUDCD1 | psi-mi:“MI:0915”(physical association) | 0.710 |
| COPG1 | NUDCD1 | psi-mi:“MI:0915”(physical association) | 0.710 |
| DHX8 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| COPG1 | COPE | psi-mi:“MI:0914”(association) | 0.640 |
| DHX38 | PPP4R3A | psi-mi:“MI:0914”(association) | 0.640 |
| DHX38 | DHX16 | psi-mi:“MI:0914”(association) | 0.630 |
| NUDCD1 | COPB1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| DHX32 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ABCF2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| NUDCD1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NUDCD1 | DHX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDCD1 | DHX16 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARAF | NUDCD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDCD1 | COPG2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDCD1 | AKT3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NXF1 | NUDCD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDCD1 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| DHX15 | BBX | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| USP36 | STK25 | psi-mi:“MI:0914”(association) | 0.350 |
| COPA | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| COPB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| COPE | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| COPG1 | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| COPG2 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| COPZ1 | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (110): NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Affinity Capture-MS), NUDCD1 (Proximity Label-MS), NUDCD1 (Proximity Label-MS), NUDCD1 (Proximity Label-MS), NUDCD1 (Proximity Label-MS)
ESM2 similar proteins: A1KXW8, A6QL50, E1BGQ2, H0Y354, O94955, P47224, Q08326, Q0IIH8, Q1JQA1, Q1RMS8, Q1RMZ1, Q2TBU5, Q3T1H6, Q4R372, Q4R528, Q4R9C4, Q5F480, Q5F4A1, Q5I0G3, Q5RCQ0, Q5RFG8, Q5TFE4, Q5TYM5, Q641X7, Q6L9T8, Q6PIP5, Q7L622, Q7Z6J8, Q7ZX59, Q86X60, Q8BFZ8, Q8BKW4, Q8BM85, Q8BX13, Q8CEL2, Q8N5C7, Q8N635, Q8NHU2, Q8TCF1, Q8TCJ0
Diamond homologs: Q28IB1, Q503C8, Q6PIP5, Q7T0S2, Q96RS6, Q54M64, Q9VVA6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 38 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 |
|---|---|---|---|
| COPI-dependent Golgi-to-ER retrograde traffic | 8 | 34.1× | 6e-09 |
| COPI-mediated anterograde transport | 8 | 33.8× | 6e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intra-Golgi vesicle-mediated transport | 7 | 111.7× | 4e-11 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 5 | 51.1× | 4e-06 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 6 | 24.7× | 9e-06 |
| mRNA splicing, via spliceosome | 5 | 13.9× | 1e-03 |
| intracellular protein transport | 6 | 11.8× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2390 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:109245324:AAAG:A | donor_gain | 1.0000 |
| 8:109264095:TAAAG:T | donor_gain | 1.0000 |
| 8:109271138:C:CT | acceptor_gain | 1.0000 |
| 8:109275347:CTTA:C | donor_loss | 1.0000 |
| 8:109275348:TTACC:T | donor_loss | 1.0000 |
| 8:109275349:TACCA:T | donor_loss | 1.0000 |
| 8:109275350:A:AC | donor_gain | 1.0000 |
| 8:109275350:A:AT | donor_loss | 1.0000 |
| 8:109275350:AC:A | donor_gain | 1.0000 |
| 8:109275351:C:CT | donor_gain | 1.0000 |
| 8:109275351:CC:C | donor_gain | 1.0000 |
| 8:109275351:CCA:C | donor_gain | 1.0000 |
| 8:109275351:CCAG:C | donor_gain | 1.0000 |
| 8:109275351:CCAGT:C | donor_gain | 1.0000 |
| 8:109275492:CCAAG:C | acceptor_gain | 1.0000 |
| 8:109275493:CAAGC:C | acceptor_gain | 1.0000 |
| 8:109275494:AAG:A | acceptor_gain | 1.0000 |
| 8:109275495:AG:A | acceptor_gain | 1.0000 |
| 8:109275496:GC:G | acceptor_loss | 1.0000 |
| 8:109275497:C:CC | acceptor_gain | 1.0000 |
| 8:109275503:G:C | acceptor_gain | 1.0000 |
| 8:109275503:G:GC | acceptor_gain | 1.0000 |
| 8:109275504:T:C | acceptor_gain | 1.0000 |
| 8:109275504:T:TC | acceptor_gain | 1.0000 |
| 8:109275505:T:C | acceptor_gain | 1.0000 |
| 8:109275505:T:TC | acceptor_gain | 1.0000 |
| 8:109275509:A:AC | acceptor_gain | 1.0000 |
| 8:109275509:A:C | acceptor_gain | 1.0000 |
| 8:109280964:ATAC:A | donor_loss | 1.0000 |
| 8:109280966:AC:A | donor_loss | 1.0000 |
AlphaMissense
3859 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:109243295:A:T | V489D | 1.000 |
| 8:109243088:C:T | G558E | 0.999 |
| 8:109243203:A:C | Y520D | 0.999 |
| 8:109243282:C:A | K493N | 0.999 |
| 8:109243282:C:G | K493N | 0.999 |
| 8:109243301:C:T | G487D | 0.999 |
| 8:109245322:C:G | G487R | 0.999 |
| 8:109245385:A:G | W466R | 0.999 |
| 8:109245385:A:T | W466R | 0.999 |
| 8:109333944:A:G | Y23H | 0.999 |
| 8:109333951:G:C | F20L | 0.999 |
| 8:109333951:G:T | F20L | 0.999 |
| 8:109333953:A:G | F20L | 0.999 |
| 8:109243055:A:G | L569P | 0.998 |
| 8:109243058:A:T | V568D | 0.998 |
| 8:109243089:C:G | G558R | 0.998 |
| 8:109243089:C:T | G558R | 0.998 |
| 8:109243133:G:T | A543D | 0.998 |
| 8:109243162:T:A | R533S | 0.998 |
| 8:109243162:T:G | R533S | 0.998 |
| 8:109243163:C:G | R533T | 0.998 |
| 8:109243299:A:G | Y488H | 0.998 |
| 8:109245327:G:T | A485D | 0.998 |
| 8:109245352:A:G | W477R | 0.998 |
| 8:109245352:A:T | W477R | 0.998 |
| 8:109333937:A:G | L25P | 0.998 |
| 8:109333944:A:C | Y23D | 0.998 |
| 8:109243126:C:A | Q545H | 0.997 |
| 8:109243126:C:G | Q545H | 0.997 |
| 8:109243235:G:T | A509D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000042395 (8:109309448 A>G), RS1000061467 (8:109264797 T>C), RS1000086586 (8:109320520 T>A,C), RS1000133580 (8:109258719 A>T), RS1000207530 (8:109273953 T>C), RS1000219899 (8:109265310 G>A), RS1000242247 (8:109311406 C>T), RS1000253954 (8:109265021 G>A), RS1000292040 (8:109271823 A>C,G), RS1000304063 (8:109294943 T>A,C), RS1000320738 (8:109324922 T>C), RS1000368340 (8:109276721 ATC>A), RS1000423130 (8:109318020 TA>T), RS1000449364 (8:109271511 A>C), RS1000494974 (8:109330179 G>A)
Disease associations
OMIM: gene MIM:606109 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_76 | Daytime sleep phenotypes | 2.000000e-06 |
| GCST003542_207 | Night sleep phenotypes | 5.000000e-06 |
| GCST008595_200 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 7.000000e-09 |
| GCST009391_2140 | Metabolite levels | 3.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0010384 | phosphatidylcholine 38:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 4 |
| methylmercuric chloride | decreases expression | 3 |
| Nickel | increases expression, decreases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| Particulate Matter | increases abundance, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_KT84 | HeLa SilenciX NUDCD1 | Cancer cell line | Female |
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.