ENDOV
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Also known as FLJ35220
Summary
ENDOV (endonuclease V, HGNC:26640) is a protein-coding gene on chromosome 17q25.3, encoding Endonuclease V (Q8N8Q3). Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine.
Enables DNA binding activity; RNA endonuclease activity, producing 5’-phosphomonoesters; and single-stranded RNA binding activity. Predicted to be involved in DNA repair. Located in cytoplasmic stress granule and nucleolus.
Source: NCBI Gene 284131 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 80 total
- MANE Select transcript:
NM_173627
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26640 |
| Approved symbol | ENDOV |
| Name | endonuclease V |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35220 |
| Ensembl gene | ENSG00000173818 |
| Ensembl biotype | protein_coding |
| OMIM | 619821 |
| Entrez | 284131 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 24 protein_coding, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron
ENST00000323854, ENST00000517295, ENST00000517795, ENST00000518137, ENST00000518644, ENST00000518901, ENST00000518907, ENST00000519117, ENST00000519331, ENST00000520118, ENST00000520136, ENST00000520284, ENST00000520367, ENST00000520484, ENST00000520537, ENST00000520565, ENST00000520910, ENST00000521330, ENST00000521565, ENST00000521634, ENST00000521830, ENST00000521847, ENST00000522200, ENST00000522577, ENST00000522751, ENST00000523165, ENST00000523228, ENST00000523828, ENST00000523999, ENST00000572886, ENST00000858819, ENST00000858820, ENST00000858821, ENST00000858822, ENST00000858823
RefSeq mRNA: 5 — MANE Select: NM_173627
NM_001164637, NM_001164638, NM_001352760, NM_001352761, NM_173627
CCDS: CCDS54172, CCDS54173, CCDS54174
Canonical transcript exons
ENST00000518137 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002112997 | 80415167 | 80415250 |
| ENSE00002498626 | 80429773 | 80429831 |
| ENSE00003463496 | 80425032 | 80425100 |
| ENSE00003480396 | 80423520 | 80423632 |
| ENSE00003481097 | 80422206 | 80422245 |
| ENSE00003495191 | 80415650 | 80415821 |
| ENSE00003583431 | 80436133 | 80438086 |
| ENSE00003595020 | 80421828 | 80421962 |
| ENSE00003631980 | 80428596 | 80428660 |
| ENSE00003789646 | 80425492 | 80425620 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 96.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4211 / max 71.7681, expressed in 1747 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163245 | 3.6552 | 1640 |
| 163246 | 2.7146 | 1361 |
| 163247 | 0.0513 | 10 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 96.22 | gold quality |
| upper arm skin | UBERON:0004263 | 95.32 | gold quality |
| parotid gland | UBERON:0001831 | 93.84 | silver quality |
| right uterine tube | UBERON:0001302 | 92.32 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.10 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.79 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.68 | silver quality |
| vena cava | UBERON:0004087 | 91.18 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.75 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.49 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.37 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.31 | gold quality |
| cortical plate | UBERON:0005343 | 90.05 | gold quality |
| left testis | UBERON:0004533 | 89.98 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.81 | gold quality |
| cerebellum | UBERON:0002037 | 89.68 | gold quality |
| right testis | UBERON:0004534 | 89.67 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.38 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 89.16 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.06 | gold quality |
| body of uterus | UBERON:0009853 | 89.04 | gold quality |
| pituitary gland | UBERON:0000007 | 89.03 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 89.00 | silver quality |
| cardia of stomach | UBERON:0001162 | 88.98 | silver quality |
| endocervix | UBERON:0000458 | 88.54 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 88.40 | silver quality |
| left ovary | UBERON:0002119 | 88.39 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.36 | gold quality |
| skin of leg | UBERON:0001511 | 88.26 | gold quality |
| cortex of kidney | UBERON:0001225 | 88.21 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.83 |
| E-GEOD-100618 | no | 91.84 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
54 targeting ENDOV, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-10522-5P | 99.26 | 68.50 | 2087 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
Literature-anchored findings (GeneRIF, showing 8)
- ENDOV is localized in the cytoplasm and nucleoli of human cells. (PMID:23139746)
- This previously unknown RNA incision activity may suggest a role for endonuclease V in normal RNA metabolism. (PMID:23912683)
- hEndoV controls the fate of inosine-containing RNA in humans. (PMID:23912718)
- ENDOV was significantly associated with schizophrenia. (PMID:25053281)
- Human EndoV appears inactive on DNA, but has been shown to incise various RNA substrates containing inosine. [review] (PMID:25824682)
- hEndoV is redistributed to stress granules as a strategy to create a local environment low in ATP to permit hEndoV activity. (PMID:27573237)
- Inosine-specific ribonuclease activity of natural variants of human endonuclease V (PMID:27800608)
- Base preference for inosine 3’-riboendonuclease activity of human endonuclease V: implications for cleavage of poly-A tails containing inosine. (PMID:38951658)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Endov | ENSMUSG00000039850 |
| rattus_norvegicus | Endov | ENSRNOG00000003699 |
Protein
Protein identifiers
Endonuclease V — Q8N8Q3 (reviewed: Q8N8Q3)
Alternative names: Inosine-specific endoribonuclease
All UniProt accessions (15): Q8N8Q3, A0A0G2JLD4, E5RFW0, E5RGZ9, E5RHX4, E5RII5, E5RJ92, H0YAY5, H0YBX8, H0YBZ5, I3L0L4, I3L1V3, I3L485, I3L4M6, I3L4V7
UniProt curated annotations — full annotation on UniProt →
Function. Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine. Active against both single-stranded and double-stranded RNAs. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5’-IIUI-3’ and 5’-UIUU-3’. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing. Binds branched DNA structures. Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine. Active against both single-stranded and double-stranded RNAs. Cleaves tRNAs containing inosine. Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine. Active against both single-stranded and double-stranded RNAs. Cleaves tRNAs containing inosine.
Subunit / interactions. Monomer. Interacts with PABPC1; the interaction is RNA-dependent and stimulates ENDOV activity.
Subcellular location. Cytoplasm. Nucleus. Nucleolus. Stress granule Cytoplasm. Stress granule.
Activity regulation. Inhibited by normal intracellular concentrations of ATP.
Similarity. Belongs to the endonuclease V family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N8Q3-1 | 1, hENDOV 282 | yes |
| Q8N8Q3-2 | 2 | |
| Q8N8Q3-3 | 3 | |
| Q8N8Q3-4 | 4 | |
| Q8N8Q3-5 | 5 | |
| Q8N8Q3-6 | 6, hENDOV 308 | |
| Q8N8Q3-7 | 7, hENDOV 309 |
RefSeq proteins (5): NP_001158109, NP_001158110, NP_001339689, NP_001339690, NP_775898* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007581 | Endonuclease-V | Family |
Pfam: PF04493
Enzyme classification (BRENDA):
- EC 3.1.21.7 — deoxyribonuclease V (BRENDA: 17 organisms, 91 substrates, 22 inhibitors, 4 Km, 8 kcat entries)
- EC 3.1.27.8 — Ribonuclease V (BRENDA: 2 organisms, 7 substrates, 0 inhibitors, 1 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 49-MER OLIGONUCLEOTIDE | 0.003–0.024 | 4 |
| POLY(A) | 0.0357 | 1 |
| 18-MER RNA OLIGONUCLEOTIDE CONTAINING INOSINE | — | 0 |
| 30-MER DNA/RNA CONTAINING INOSINE HYBRID | — | 0 |
| ACUGGACA[RI][RI]U[RI]CUCCGAGG | — | 0 |
UniProt features (50 total): mutagenesis site 15, strand 10, helix 8, sequence variant 5, splice variant 5, binding site 2, chain 1, region of interest 1, sequence conflict 1, turn 1, site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6OZE | X-RAY DIFFRACTION | 1.5 |
| 4NSP | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8Q3-F1 | 90.90 | 0.83 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 91 (interaction with target rna)
Ligand- & substrate-binding residues (2): 52; 126
Mutagenesis-validated functional residues (15):
| Position | Phenotype |
|---|---|
| 35–40 | does not gain activity against single- or double-stranded dna. |
| 52 | abolishes ribonuclease activity. |
| 57–60 | does not gain activity against single- or double-stranded dna. |
| 90–93 | abolishes ability to bind branched dna and rna. |
| 91 | abolishes ribonuclease activity without affecting ability to bind branched dna. |
| 100 | abolishes ribonuclease activity. |
| 115–119 | does not gain activity against single- or double-stranded dna. |
| 161–166 | does not gain activity against single- or double-stranded dna. |
| 171 | no effect on subcellular location or activity; when associated with a-174. |
| 174 | no effect on subcellular location or activity; when associated with a-171. |
| 225 | no significant effect on activity. |
| 226 | no significant effect on activity. |
| 227 | 68% decrease in activity. |
| 228 | 46% decrease in activity. |
| 248–249 | abolishes ability to bind branched dna and rna. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 94 (showing top):
GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, KAUFFMANN_DNA_REPAIR_GENES, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_DNA_DAMAGE_RESPONSE, GOMF_DNA_ENDONUCLEASE_ACTIVITY, GOCC_CYTOPLASMIC_STRESS_GRANULE, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_NUCLEOLUS, GOBP_DNA_METABOLIC_PROCESS, SCGGAAGY_ELK1_02, GOMF_DNA_ENDONUCLEASE_ACTIVITY_PRODUCING_5_PHOSPHOMONOESTERS, MGGAAGTG_GABP_B, GOMF_MAGNESIUM_ION_BINDING
GO Biological Process (1): DNA repair (GO:0006281)
GO Molecular Function (12): magnesium ion binding (GO:0000287), DNA binding (GO:0003677), single-stranded RNA binding (GO:0003727), DNA endonuclease activity, producing 5’-phosphomonoesters (GO:0016888), RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism (GO:0016891), RNA binding (GO:0003723), nuclease activity (GO:0004518), endonuclease activity (GO:0004519), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on ester bonds (GO:0016788), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleolus (GO:0005730), cytoplasm (GO:0005737), cytoplasmic stress granule (GO:0010494), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| hydrolase activity, acting on ester bonds | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| metal ion binding | 1 |
| RNA binding | 1 |
| DNA endonuclease activity | 1 |
| RNA endonuclease activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| nuclease activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| hydrolase activity | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1632 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENDOV | ITPA | Q9BY32 | 613 |
| ENDOV | MPG | P29372 | 600 |
| ENDOV | HENMT1 | Q5T8I9 | 547 |
| ENDOV | AGO3 | Q9H9G7 | 545 |
| ENDOV | AGO4 | Q9HCK5 | 545 |
| ENDOV | OGG1 | P78554 | 507 |
| ENDOV | UNG | P13051 | 505 |
| ENDOV | TARBP2 | Q15633 | 505 |
| ENDOV | SND1 | Q7KZF4 | 505 |
| ENDOV | GEMIN5 | Q8TEQ6 | 497 |
| ENDOV | GEMIN6 | Q8WXD5 | 496 |
| ENDOV | ZFP36 | P26651 | 490 |
| ENDOV | PABPC1 | P11940 | 484 |
| ENDOV | PIWIL4 | Q7Z3Z4 | 480 |
| ENDOV | GEMIN2 | O14893 | 470 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ENDOV | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRD2 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| IMPDH1 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| ENDOV | PDCL | psi-mi:“MI:0914”(association) | 0.350 |
| ENDOV | PRPSAP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NELFCD | ENDOV | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (43): BBS2 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), ANKRD40 (Affinity Capture-MS), PDCL (Affinity Capture-MS), SEPHS2 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), TSC22D3 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), ENDOV (Affinity Capture-MS), SEPHS2 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), TSC22D3 (Affinity Capture-MS)
ESM2 similar proteins: A0JNU3, A1A4L8, A2BDX3, A5GFZ6, A6NK58, A6QQ74, O19179, O43542, O60294, O95336, O95396, P19971, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q28F19, Q29R99, Q2TBQ8, Q2V057, Q3SZ07, Q3UQ84, Q561R2, Q5ZKI2, Q68FW7, Q6PAT0, Q6QHF9, Q86U10, Q86WU2, Q86Y79, Q8BW00, Q8IVS8, Q8N8Q3, Q8R123, Q8VCZ9, Q8VDG5, Q8WV74, Q8WVB3, Q8WZ82
Diamond homologs: A0B8N3, A1AIG9, A1JIJ2, A1RY04, A4W5C1, A5FRP8, A5GD74, A5IL77, A5UWX7, A6LNA6, A6TGQ5, A7FNH1, A7MJ90, A7NSC5, A7ZUL4, A8A798, A8AKS5, A8G8F8, A9BHL9, A9MHD1, A9N0L0, B0RQR6, B1IUP9, B1LAF7, B1LNV0, B1XC01, B2IWL4, B2SRM7, B2TWI5, B2VG82, B4EYT7, B4T100, B4TCT7, B4TQK8, B5BJR7, B5F1I1, B5FQL3, B5QYF3, B5RFI6, B5XYE0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2644 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:80423630:AAG:A | donor_loss | 1.0000 |
| 17:80423631:AGGTG:A | donor_loss | 1.0000 |
| 17:80423633:G:C | donor_loss | 1.0000 |
| 17:80423634:T:G | donor_loss | 1.0000 |
| 17:80425101:G:A | donor_loss | 1.0000 |
| 17:80425102:T:A | donor_loss | 1.0000 |
| 17:80425619:AG:A | donor_loss | 1.0000 |
| 17:80425620:GG:G | donor_loss | 1.0000 |
| 17:80415393:G:GT | donor_gain | 0.9900 |
| 17:80415399:G:GT | donor_gain | 0.9900 |
| 17:80415411:G:GT | donor_gain | 0.9900 |
| 17:80415412:A:T | donor_gain | 0.9900 |
| 17:80415797:G:GA | donor_gain | 0.9900 |
| 17:80417728:T:A | acceptor_gain | 0.9900 |
| 17:80423514:T:TA | acceptor_gain | 0.9900 |
| 17:80423516:GCA:G | acceptor_loss | 0.9900 |
| 17:80423517:CAGG:C | acceptor_loss | 0.9900 |
| 17:80423518:A:AG | acceptor_gain | 0.9900 |
| 17:80423518:A:AT | acceptor_loss | 0.9900 |
| 17:80423518:AG:A | acceptor_gain | 0.9900 |
| 17:80423519:G:GA | acceptor_gain | 0.9900 |
| 17:80423519:GG:G | acceptor_gain | 0.9900 |
| 17:80423519:GGCT:G | acceptor_gain | 0.9900 |
| 17:80423629:GAAG:G | donor_gain | 0.9900 |
| 17:80425023:A:AG | acceptor_gain | 0.9900 |
| 17:80425024:T:G | acceptor_gain | 0.9900 |
| 17:80425027:TCCA:T | acceptor_loss | 0.9900 |
| 17:80425028:CCAG:C | acceptor_loss | 0.9900 |
| 17:80425029:CAGAT:C | acceptor_loss | 0.9900 |
| 17:80425030:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
1788 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:80422219:A:T | D126V | 0.995 |
| 17:80422228:G:A | G129E | 0.995 |
| 17:80423581:G:C | K155N | 0.995 |
| 17:80423581:G:T | K155N | 0.995 |
| 17:80422227:G:T | G129W | 0.993 |
| 17:80415699:T:A | W36R | 0.992 |
| 17:80415699:T:C | W36R | 0.992 |
| 17:80415756:T:C | F55L | 0.992 |
| 17:80415758:C:A | F55L | 0.992 |
| 17:80415758:C:G | F55L | 0.992 |
| 17:80421891:T:C | F98L | 0.992 |
| 17:80421893:C:A | F98L | 0.992 |
| 17:80421893:C:G | F98L | 0.992 |
| 17:80415749:C:A | D52E | 0.991 |
| 17:80415749:C:G | D52E | 0.991 |
| 17:80421958:C:A | P120H | 0.991 |
| 17:80422220:T:A | D126E | 0.990 |
| 17:80422220:T:G | D126E | 0.990 |
| 17:80422222:G:A | G127E | 0.990 |
| 17:80422228:G:T | G129V | 0.990 |
| 17:80423526:G:A | G137E | 0.990 |
| 17:80423535:G:A | C140Y | 0.990 |
| 17:80423544:G:A | G143D | 0.990 |
| 17:80425615:C:A | R237S | 0.990 |
| 17:80415739:G:A | G49E | 0.989 |
| 17:80421882:T:C | F95L | 0.989 |
| 17:80421884:C:A | F95L | 0.989 |
| 17:80421884:C:G | F95L | 0.989 |
| 17:80422236:C:G | H132D | 0.989 |
| 17:80423536:C:G | C140W | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000082669 (17:80423936 G>A), RS1000246146 (17:80428012 C>T), RS1000378664 (17:80437498 G>A), RS1000473972 (17:80427591 A>T), RS1000536666 (17:80433648 C>T), RS1000545895 (17:80427377 C>T), RS1000559233 (17:80423749 C>G,T), RS1000590643 (17:80434137 C>A,T), RS1000665565 (17:80432837 C>T), RS1000711916 (17:80438491 C>T), RS1000834115 (17:80424946 C>G,T), RS1000839423 (17:80415355 C>A,G,T), RS1000969571 (17:80433876 G>C), RS1000976654 (17:80420796 G>C), RS1000980010 (17:80418897 C>T)
Disease associations
OMIM: gene MIM:619821 | disease phenotypes: MIM:607151
GenCC curated gene-disease
Mondo (1): Moyamoya disease 2 (MONDO:0011784)
Orphanet (1): Moyamoya disease (Orphanet:2573)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009204_12 | Total intracranial volume | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004886 | intracranial volume measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536992 | Moyamoya disease 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Phthalic Acids | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Particulate Matter | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9E9 | Ubigene HEK293 ENDOV KO | Transformed cell line | Female |
| CVCL_SM05 | HAP1 ENDOV (-) | 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): Moyamoya disease 2