CTDNEP1
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Also known as HSA011916NET56
Summary
CTDNEP1 (CTD nuclear envelope phosphatase 1, HGNC:19085) is a protein-coding gene on chromosome 17p13.1, encoding CTD nuclear envelope phosphatase 1 (O95476). Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. It is a selective cancer dependency (DepMap: 40.1% of cell lines).
Enables protein serine/threonine phosphatase activity. Involved in several processes, including positive regulation of triglyceride biosynthetic process; protein dephosphorylation; and protein localization to nucleus. Located in endoplasmic reticulum membrane; lipid droplet; and nuclear membrane. Part of Nem1-Spo7 phosphatase complex.
Source: NCBI Gene 23399 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 36 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 40.1% of screened cell lines
- MANE Select transcript:
NM_001143775
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19085 |
| Approved symbol | CTDNEP1 |
| Name | CTD nuclear envelope phosphatase 1 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSA011916, NET56 |
| Ensembl gene | ENSG00000175826 |
| Ensembl biotype | protein_coding |
| OMIM | 610684 |
| Entrez | 23399 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 11 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000318988, ENST00000570380, ENST00000570385, ENST00000570484, ENST00000570828, ENST00000571409, ENST00000572043, ENST00000573600, ENST00000574205, ENST00000574322, ENST00000575783, ENST00000576613, ENST00000912384, ENST00000964617, ENST00000964618
RefSeq mRNA: 2 — MANE Select: NM_001143775
NM_001143775, NM_015343
CCDS: CCDS11093
Canonical transcript exons
ENST00000574322 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001278806 | 7246026 | 7246137 |
| ENSE00001898059 | 7243591 | 7244245 |
| ENSE00002653978 | 7251195 | 7251734 |
| ENSE00003566528 | 7247064 | 7247182 |
| ENSE00003589833 | 7246254 | 7246370 |
| ENSE00003604175 | 7247277 | 7247343 |
| ENSE00003610435 | 7246791 | 7246862 |
| ENSE00003646929 | 7244551 | 7244635 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 124.1744 / max 731.4599, expressed in 1827 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164177 | 97.0433 | 1825 |
| 164176 | 21.1848 | 1807 |
| 164178 | 1.6808 | 1081 |
| 164172 | 0.8909 | 622 |
| 164174 | 0.6083 | 338 |
| 164173 | 0.5727 | 281 |
| 164175 | 0.5678 | 312 |
| 164171 | 0.4426 | 192 |
| 208047 | 0.4180 | 199 |
| 208046 | 0.3588 | 157 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 99.15 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.00 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.87 | gold quality |
| muscle tissue | UBERON:0002385 | 98.68 | gold quality |
| muscle of leg | UBERON:0001383 | 98.60 | gold quality |
| cortical plate | UBERON:0005343 | 98.54 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.49 | gold quality |
| granulocyte | CL:0000094 | 98.30 | gold quality |
| ventricular zone | UBERON:0003053 | 98.21 | gold quality |
| skin of leg | UBERON:0001511 | 98.13 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.07 | gold quality |
| zone of skin | UBERON:0000014 | 98.06 | gold quality |
| right ovary | UBERON:0002118 | 98.06 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.02 | gold quality |
| endocervix | UBERON:0000458 | 98.01 | gold quality |
| body of uterus | UBERON:0009853 | 97.97 | gold quality |
| left ovary | UBERON:0002119 | 97.93 | gold quality |
| ovary | UBERON:0000992 | 97.89 | gold quality |
| spleen | UBERON:0002106 | 97.89 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.87 | gold quality |
| ectocervix | UBERON:0012249 | 97.86 | gold quality |
| lymph node | UBERON:0000029 | 97.83 | gold quality |
| fallopian tube | UBERON:0003889 | 97.78 | gold quality |
| body of stomach | UBERON:0001161 | 97.75 | gold quality |
| left uterine tube | UBERON:0001303 | 97.75 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.73 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.72 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.72 | gold quality |
| body of pancreas | UBERON:0001150 | 97.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.14 |
| E-MTAB-7249 | no | 348.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
50 targeting CTDNEP1, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-10522-5P | 99.26 | 68.50 | 2087 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-5011-3P | 98.63 | 64.81 | 638 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 40.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- Dullard participates in a unique phosphatase cascade regulating nuclear membrane biogenesis, a cascade that is conserved from yeast to mammals. (PMID:17420445)
- dullard shows specificity for the peptide corresponding to the insulin-dependent phosphorylation site (Ser106) of lipin (PMID:21413788)
- CTDNEP1 is upregulated in non-alcoholic fatty liver disease. Up-regulation of miR-122 can trigger the compensatory response of LPIN1 and CTDNEP1 in hepatosteatosis. (PMID:28287811)
- Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure. (PMID:32271860)
- Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability. (PMID:36765089)
- Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology. (PMID:38776370)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ctdnep1a | ENSDARG00000016519 |
| danio_rerio | ctdnep1b | ENSDARG00000035781 |
| mus_musculus | Ctdnep1 | ENSMUSG00000018559 |
| rattus_norvegicus | Ctdnep1 | ENSRNOG00000017352 |
| drosophila_melanogaster | Dd | FBGN0029067 |
| caenorhabditis_elegans | WBGENE00018474 |
Paralogs (5): TIMM50 (ENSG00000105197), CTDSPL2 (ENSG00000137770), CTDSP1 (ENSG00000144579), CTDSPL (ENSG00000144677), CTDSP2 (ENSG00000175215)
Protein
Protein identifiers
CTD nuclear envelope phosphatase 1 — O95476 (reviewed: O95476)
Alternative names: Serine/threonine-protein phosphatase dullard
All UniProt accessions (7): O95476, I3L0X6, I3L1D9, I3L2R5, I3L3K5, I3L4B2, I3L4W0
UniProt curated annotations — full annotation on UniProt →
Function. Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling.
Subunit / interactions. (Microbial infection) Interacts with Chandipura virus matrix protein. Interacts with CNEP1R1; the complex dephosphorylates LPIN1 and LPIN2.
Subcellular location. Endoplasmic reticulum membrane. Nucleus membrane.
Tissue specificity. Muscle specific with lower expression in other metabolic tissues.
Similarity. Belongs to the dullard family.
RefSeq proteins (2): NP_001137247, NP_056158 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004274 | FCP1_dom | Domain |
| IPR011948 | Dullard_phosphatase | Domain |
| IPR023214 | HAD_sf | Homologous_superfamily |
| IPR036412 | HAD-like_sf | Homologous_superfamily |
| IPR050365 | TIM50 | Family |
Pfam: PF03031
Catalyzed reactions (Rhea), 2 shown:
- O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
- O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)
UniProt features (30 total): strand 12, helix 11, turn 2, chain 1, transmembrane region 1, domain 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8UJL | X-RAY DIFFRACTION | 1.91 |
| 8UJM | X-RAY DIFFRACTION | 2.16 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95476-F1 | 90.19 | 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.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 67 | abolishes phosphatase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-4419969 | Depolymerization of the Nuclear Lamina |
MSigDB gene sets: 191 (showing top):
MORF_MTA1, GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GOBP_MEMBRANE_DISASSEMBLY, MORF_UBE2I, MORF_HDAC1, MORF_CDK2, MORF_HDAC2, TAL1ALPHAE47_01, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, MORF_TERF1, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, MORF_RAF1, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY
GO Biological Process (10): protein dephosphorylation (GO:0006470), nuclear envelope organization (GO:0006998), mitotic nuclear membrane disassembly (GO:0007077), gamete generation (GO:0007276), mesoderm development (GO:0007498), positive regulation of triglyceride biosynthetic process (GO:0010867), protein localization to nucleus (GO:0034504), canonical Wnt signaling pathway (GO:0060070), positive regulation of canonical Wnt signaling pathway (GO:0090263), protein transport (GO:0015031)
GO Molecular Function (5): phosphoprotein phosphatase activity (GO:0004721), protein serine/threonine phosphatase activity (GO:0004722), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatase activity (GO:0016791)
GO Cellular Component (12): nuclear envelope (GO:0005635), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), nuclear membrane (GO:0031965), Nem1-Spo7 phosphatase complex (GO:0071595), nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), TIM23 mitochondrial import inner membrane translocase complex (GO:0005744), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Nuclear Envelope Breakdown | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| nucleus | 2 |
| endomembrane system | 2 |
| cellular anatomical structure | 2 |
| organelle membrane | 2 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 2 |
| cytoplasm | 2 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| nucleus organization | 1 |
| endomembrane system organization | 1 |
| membrane organization | 1 |
| mitotic cell cycle | 1 |
| nuclear membrane disassembly | 1 |
| mitotic cell cycle process | 1 |
| sexual reproduction | 1 |
| multicellular organismal reproductive process | 1 |
| tissue development | 1 |
| regulation of triglyceride biosynthetic process | 1 |
| triglyceride biosynthetic process | 1 |
| positive regulation of lipid biosynthetic process | 1 |
| positive regulation of triglyceride metabolic process | 1 |
| protein localization to organelle | 1 |
| Wnt signaling pathway | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| phosphoprotein phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| phosphoric ester hydrolase activity | 1 |
| organelle envelope | 1 |
| intracellular anatomical structure | 1 |
| endoplasmic reticulum subcompartment | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
899 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CTDNEP1 | CNEP1R1 | Q8N9A8 | 930 |
| CTDNEP1 | BMPR2 | Q13873 | 847 |
| CTDNEP1 | LPIN1 | Q14693 | 688 |
| CTDNEP1 | BMP1 | P13497 | 649 |
| CTDNEP1 | LPIN3 | Q9BQK8 | 649 |
| CTDNEP1 | LPIN2 | Q92539 | 593 |
| CTDNEP1 | CTDP1 | Q9Y5B0 | 550 |
| CTDNEP1 | SFT2D1 | Q8WV19 | 497 |
| CTDNEP1 | GFM2 | Q969S9 | 446 |
| CTDNEP1 | MAL2 | Q969L2 | 409 |
| CTDNEP1 | MAN1B1 | Q9UKM7 | 406 |
| CTDNEP1 | STMP1 | E0CX11 | 394 |
| CTDNEP1 | RSL24D1 | Q9UHA3 | 377 |
| CTDNEP1 | ARMC8 | Q8IUR7 | 377 |
| CTDNEP1 | P4HA1 | P13674 | 371 |
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDCA3 | CTDSPL | psi-mi:“MI:0914”(association) | 0.670 |
| M | CTDNEP1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| CTDNEP1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EVA1C | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PLXDC2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC107 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| TLR5 | MAN1A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPRB | CTDNEP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CNEP1R1 | CTDNEP1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| CTDNEP1 | CNEP1R1 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| CTDNEP1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| FAM189B | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| SRPRB | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC17A2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRB | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DRB1 | CTDNEP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF4 | CTDNEP1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| CTDNEP1 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARL6IP1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (91): CTDNEP1 (Affinity Capture-RNA), CTDNEP1 (Affinity Capture-RNA), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), ATP2A2 (Affinity Capture-MS), HAX1 (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), ACBD5 (Proximity Label-MS)
ESM2 similar proteins: A0A3L7I2I8, A6H7H7, D4ABP9, O60733, O95476, P37287, P97570, P97819, Q12980, Q1RMV9, Q20432, Q28EX9, Q28HW9, Q29I63, Q2KIX2, Q2KJD7, Q2TBU5, Q3B7T6, Q3TP92, Q3U1V6, Q3UHB1, Q4R678, Q5F480, Q5FWT7, Q5R4C4, Q5TFE4, Q5U395, Q5U3T3, Q5ZJJ8, Q61C05, Q66H63, Q6NWD4, Q6NYU2, Q80YV4, Q86UY8, Q8AYC9, Q8BGR9, Q8BM85, Q8JIL9, Q8VIJ8
Diamond homologs: A4QNX6, M9PFN0, O13636, O14595, O15194, O59718, O95476, P0CN66, P0CN67, P38757, P58465, P58466, Q02776, Q05D32, Q07800, Q07949, Q08BB5, Q09695, Q1RMV9, Q20432, Q28HW9, Q29I63, Q3B7T6, Q3KQB6, Q3TP92, Q3ZCQ8, Q4I099, Q4PEW9, Q4WI16, Q54GB2, Q59W44, Q5B4P0, Q5F3Z7, Q5RAJ8, Q5S7T7, Q5U395, Q5U3T3, Q5XIK8, Q61C05, Q66KM5
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CTDNEP1 | up-regulates | BMPR1A | binding |
| CTDNEP1 | down-regulates | BMPR2 | binding |
| CTDNEP1 | “up-regulates activity” | LPIN1 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3242525 | Single allele | Pathogenic |
SpliceAI
1620 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7244545:CCTTA:C | donor_loss | 1.0000 |
| 17:7244546:CTTA:C | donor_loss | 1.0000 |
| 17:7244547:TTA:T | donor_loss | 1.0000 |
| 17:7244547:TTAC:T | donor_loss | 1.0000 |
| 17:7244548:TACCT:T | donor_loss | 1.0000 |
| 17:7244549:ACC:A | donor_loss | 1.0000 |
| 17:7244549:ACCTG:A | donor_loss | 1.0000 |
| 17:7244550:C:A | donor_loss | 1.0000 |
| 17:7244550:CC:C | donor_loss | 1.0000 |
| 17:7244632:TTGT:T | acceptor_gain | 1.0000 |
| 17:7244634:GT:G | acceptor_gain | 1.0000 |
| 17:7244636:C:CC | acceptor_gain | 1.0000 |
| 17:7244645:G:C | acceptor_gain | 1.0000 |
| 17:7244645:G:GC | acceptor_gain | 1.0000 |
| 17:7244651:A:AC | acceptor_gain | 1.0000 |
| 17:7244651:A:C | acceptor_gain | 1.0000 |
| 17:7244700:T:C | acceptor_gain | 1.0000 |
| 17:7246249:CTTA:C | donor_loss | 1.0000 |
| 17:7246250:TTACC:T | donor_loss | 1.0000 |
| 17:7246251:TACCT:T | donor_loss | 1.0000 |
| 17:7246252:A:AC | donor_gain | 1.0000 |
| 17:7246252:ACCTG:A | donor_loss | 1.0000 |
| 17:7246253:C:CC | donor_gain | 1.0000 |
| 17:7246253:CCT:C | donor_gain | 1.0000 |
| 17:7246253:CCTG:C | donor_gain | 1.0000 |
| 17:7246253:CCTGT:C | donor_gain | 1.0000 |
| 17:7246366:CTCAC:C | acceptor_gain | 1.0000 |
| 17:7246367:TCAC:T | acceptor_gain | 1.0000 |
| 17:7246368:CAC:C | acceptor_gain | 1.0000 |
| 17:7246368:CACC:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000358411 (17:7245406 G>T), RS1000925641 (17:7250300 T>C), RS1001311160 (17:7243687 T>C,G), RS1001722108 (17:7247383 G>A,T), RS1001815552 (17:7253480 G>A), RS1001869509 (17:7248616 C>T), RS1002006530 (17:7248728 C>G), RS1002093312 (17:7253617 T>A), RS1002161901 (17:7253714 G>C,T), RS1002502621 (17:7243759 C>G), RS1002918626 (17:7247430 C>T), RS1003684242 (17:7250009 G>A), RS1004021333 (17:7251346 G>T), RS1004073932 (17:7251514 G>A,T), RS1004103045 (17:7251954 C>G,T)
Disease associations
OMIM: gene MIM:610684 | disease phenotypes: MIM:619376
GenCC curated gene-disease
Mondo (1): Faundes-Banka syndrome (MONDO:0859163)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 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 | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Atrazine | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Selenium | affects cotreatment, decreases expression, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Vitamin E | affects cotreatment, decreases expression, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2VC | Abcam HEK293T CTDNEP1 KO | Transformed cell line | Female |
| CVCL_SJ98 | HAP1 CTDNEP1 (-) 1 | Cancer cell line | Male |
| CVCL_SJ99 | HAP1 CTDNEP1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Faundes-Banka syndrome