EXD2
gene geneOn this page
Also known as FLJ10738
Summary
EXD2 (exonuclease 3’-5’ domain containing 2, HGNC:20217) is a protein-coding gene on chromosome 14q24.1, encoding Exonuclease 3’-5’ domain-containing protein 2 (Q9NVH0). Exonuclease that has both 3’-5’ exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor.
Enables 3’-5’ exonuclease activity; metal ion binding activity; and protein homodimerization activity. Involved in DNA double-strand break processing; double-strand break repair via homologous recombination; and replication fork processing. Located in intermediate filament cytoskeleton; mitochondrial outer membrane; and site of DNA damage.
Source: NCBI Gene 55218 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_001193360
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20217 |
| Approved symbol | EXD2 |
| Name | exonuclease 3’-5’ domain containing 2 |
| Location | 14q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10738 |
| Ensembl gene | ENSG00000081177 |
| Ensembl biotype | protein_coding |
| OMIM | 616940 |
| Entrez | 55218 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 25 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000312994, ENST00000409014, ENST00000409018, ENST00000409242, ENST00000409675, ENST00000409949, ENST00000413191, ENST00000461908, ENST00000465286, ENST00000487724, ENST00000489133, ENST00000492815, ENST00000494629, ENST00000685843, ENST00000904158, ENST00000904159, ENST00000904160, ENST00000904161, ENST00000904162, ENST00000904163, ENST00000904164, ENST00000904165, ENST00000904166, ENST00000922337, ENST00000922338, ENST00000922339, ENST00000922340, ENST00000922341, ENST00000969916, ENST00000969917, ENST00000969918
RefSeq mRNA: 5 — MANE Select: NM_001193360
NM_001193360, NM_001193361, NM_001193362, NM_001193363, NM_018199
CCDS: CCDS53902, CCDS9793
Canonical transcript exons
ENST00000685843 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001535336 | 69203917 | 69204000 |
| ENSE00001642342 | 69234700 | 69235031 |
| ENSE00003489248 | 69236407 | 69236542 |
| ENSE00003532509 | 69236046 | 69236152 |
| ENSE00003541435 | 69209424 | 69209803 |
| ENSE00003628844 | 69228816 | 69229072 |
| ENSE00003631401 | 69237575 | 69237931 |
| ENSE00003784728 | 69230472 | 69230598 |
| ENSE00003922965 | 69191498 | 69191591 |
| ENSE00003929373 | 69240884 | 69244018 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 91.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1726 / max 162.8225, expressed in 1732 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140324 | 8.2056 | 1719 |
| 140325 | 1.9670 | 830 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 91.77 | gold quality |
| ventricular zone | UBERON:0003053 | 90.94 | gold quality |
| body of pancreas | UBERON:0001150 | 90.55 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.37 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.79 | gold quality |
| pancreas | UBERON:0001264 | 88.34 | gold quality |
| spinal cord | UBERON:0002240 | 88.03 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.64 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.46 | gold quality |
| adult organism | UBERON:0007023 | 87.29 | gold quality |
| olfactory bulb | UBERON:0002264 | 87.16 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.03 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.02 | gold quality |
| right uterine tube | UBERON:0001302 | 87.02 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.00 | gold quality |
| caudate nucleus | UBERON:0001873 | 86.91 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.91 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.57 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.40 | gold quality |
| putamen | UBERON:0001874 | 86.27 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.19 | gold quality |
| cerebellum | UBERON:0002037 | 86.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.98 | gold quality |
| nucleus accumbens | UBERON:0001882 | 85.98 | gold quality |
| diaphragm | UBERON:0001103 | 85.96 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.90 | gold quality |
| nasopharynx | UBERON:0001728 | 85.89 | gold quality |
| hair follicle | UBERON:0002073 | 85.85 | silver quality |
| frontal cortex | UBERON:0001870 | 85.75 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 85.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.54 |
| E-GEOD-99795 | no | 89.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
144 targeting EXD2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
Literature-anchored findings (GeneRIF, showing 4)
- establish that EXD2 stimulates both short- and long-range DSB resection (PMID:26807646)
- EXD2 re-locates to the nucleus following double-strand breaks and thus is unlikely to have a direct role in nuclear DNA repair. Knockdown or overexpression of EXD2 affects the cellular distribution of mitochondria. (PMID:29599527)
- EXD2 is anchored to the mitochondrial outer membrane through a conserved N-terminal transmembrane domain, while the C-terminal region is cytosolic. Crystal structures of the exonuclease domain in complex with Mn2+/Mg2+ revealed a domain-swapped dimer in which the central alpha5-alpha7 helices are mutually crossed over, resulting in chimeric active sites. (PMID:31127291)
- EXD2 deficiency leads to fork collapse, hypersensitivity to replication inhibitors, and genomic instability. Impeding fork regression by inactivation of SMARCAL1 or removal of RECQ1’s inhibition in EXD2(-/-) cells restores efficient fork restart and genome stability. Moreover, purified EXD2 efficiently processes substrates mimicking regressed forks. (PMID:31255466)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | exd2 | ENSDARG00000016117 |
| mus_musculus | Exd2 | ENSMUSG00000032705 |
| rattus_norvegicus | Exd2 | ENSRNOG00000027707 |
| drosophila_melanogaster | Exd2 | FBGN0037901 |
Paralogs (1): EXD3 (ENSG00000187609)
Protein
Protein identifiers
Exonuclease 3’-5’ domain-containing protein 2 — Q9NVH0 (reviewed: Q9NVH0)
Alternative names: 3’-5’ exoribonuclease EXD2, Exonuclease 3’-5’ domain-like-containing protein 2
All UniProt accessions (3): Q9NVH0, A0A8I5KSH7, C9JLF4
UniProt curated annotations — full annotation on UniProt →
Function. Exonuclease that has both 3’-5’ exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor. In presence of Mg(2+), only shows 3’-5’ exoribonuclease activity, while it shows both exoribonuclease and exodeoxyribonuclease activities in presence of Mn(2+). Acts as an exoribonuclease in mitochondrion, possibly by regulating ATP production and mitochondrial translation. Also involved in the response to DNA damage. Acts as 3’-5’ exodeoxyribonuclease for double-strand breaks resection and efficient homologous recombination. Plays a key role in controlling the initial steps of chromosomal break repair, it is recruited to chromatin in a damage-dependent manner and functionally interacts with the MRN complex to accelerate resection through its 3’-5’ exonuclease activity, which efficiently processes double-stranded DNA substrates containing nicks. Also involved in response to replicative stress: recruited to stalled forks and is required to stabilize and restart stalled replication forks by restraining excessive fork regression, thereby suppressing their degradation.
Subunit / interactions. Homodimer. Interacts with RBBP8, MRE11 and BRCA1.
Subcellular location. Mitochondrion outer membrane. Mitochondrion matrix. Nucleus. Chromosome.
Cofactor. Divalent metal cations; Mg(2+) or Mn(2+). Acts as a 3’-5’ exoribonuclease in presence of Mg(2+), while it has no 3’-5’ exodeoxyribonuclease activity. Has both as a 3’-5’ exoribonuclease and exodeoxyribonuclease activities in presence of Mn(2+).
Similarity. Belongs to the EXD2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVH0-1 | 1 | yes |
| Q9NVH0-2 | 2 |
RefSeq proteins (5): NP_001180289, NP_001180290, NP_001180291, NP_001180292, NP_060669 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002562 | 3’-5’_exonuclease_dom | Domain |
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR036397 | RNaseH_sf | Homologous_superfamily |
| IPR051132 | 3-5_Exonuclease_domain | Family |
Pfam: PF01612
UniProt features (41 total): helix 10, strand 8, mutagenesis site 6, binding site 4, topological domain 2, sequence variant 2, region of interest 2, chain 1, splice variant 1, transmembrane region 1, sequence conflict 1, turn 1, domain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6K17 | X-RAY DIFFRACTION | 1.6 |
| 6K19 | X-RAY DIFFRACTION | 2.2 |
| 6K18 | X-RAY DIFFRACTION | 2.3 |
| 6K1C | X-RAY DIFFRACTION | 2.45 |
| 6K1A | X-RAY DIFFRACTION | 2.6 |
| 6K1B | X-RAY DIFFRACTION | 2.6 |
| 6K1E | X-RAY DIFFRACTION | 2.9 |
| 6K1D | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVH0-F1 | 80.59 | 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.
Ligand- & substrate-binding residues (4): 110; 246; 108; 108
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 108–110 | loss of 3’-5’ exonuclease activity. impaired ability to stabilize and restart stalled replication forks in response to r |
| 190 | abolished exodeoxyribonuclease activity. |
| 195 | impaired exonuclease activity. |
| 197 | impaired exonuclease activity. |
| 221 | impaired exonuclease activity. |
| 226 | abolished exonuclease activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 173 (showing top):
GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, MODULE_66, MODULE_118, chr14q24, MODULE_379, GOBP_DNA_DAMAGE_RESPONSE, GOCC_MITOCHONDRIAL_ENVELOPE, DOUGLAS_BMI1_TARGETS_DN, MODULE_88, MODULE_242, GOBP_RECOMBINATIONAL_REPAIR, GOMF_EXONUCLEASE_ACTIVITY, FREAC7_01
GO Biological Process (9): double-strand break repair via homologous recombination (GO:0000724), DNA double-strand break processing (GO:0000729), double-strand break repair (GO:0006302), replication fork processing (GO:0031297), nucleic acid metabolic process (GO:0090304), nucleobase-containing compound metabolic process (GO:0006139), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974)
GO Molecular Function (13): 3’-5’-RNA exonuclease activity (GO:0000175), magnesium ion binding (GO:0000287), nucleic acid binding (GO:0003676), 3’-5’-DNA exonuclease activity (GO:0008296), single-stranded DNA 3’-5’ DNA exonuclease activity (GO:0008310), 3’-5’ exonuclease activity (GO:0008408), manganese ion binding (GO:0030145), protein homodimerization activity (GO:0042803), nuclease activity (GO:0004518), exonuclease activity (GO:0004527), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (10): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial matrix (GO:0005759), intermediate filament cytoskeleton (GO:0045111), site of DNA damage (GO:0090734), chromosome (GO:0005694), membrane (GO:0016020), mitochondrial membrane (GO:0031966)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 3 |
| cellular anatomical structure | 3 |
| double-strand break repair | 2 |
| 3’-5’ exonuclease activity | 2 |
| binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| mitochondrion | 2 |
| recombinational repair | 1 |
| 5’-3’ DNA exonuclease activity | 1 |
| DNA repair | 1 |
| DNA-templated DNA replication maintenance of fidelity | 1 |
| nucleobase-containing compound metabolic process | 1 |
| macromolecule metabolic process | 1 |
| primary metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| RNA exonuclease activity, producing 5’-phosphomonoesters | 1 |
| metal ion binding | 1 |
| DNA exonuclease activity, producing 5’-phosphomonoesters | 1 |
| 3’-5’-DNA exonuclease activity | 1 |
| single-stranded DNA exodeoxyribonuclease activity | 1 |
| exonuclease activity | 1 |
| transition metal ion binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| nuclease activity | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| intracellular organelle lumen | 1 |
| cytoskeleton | 1 |
| chromosome | 1 |
| intracellular membraneless organelle | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
830 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EXD2 | TMEM214 | Q6NUQ4 | 917 |
| EXD2 | CNOT2 | Q9NZN8 | 898 |
| EXD2 | SEC61B | P38390 | 848 |
| EXD2 | EXD1 | Q8NHP7 | 685 |
| EXD2 | SEC61G | P38384 | 684 |
| EXD2 | NPR2 | P20594 | 670 |
| EXD2 | SEC62 | Q99442 | 670 |
| EXD2 | SEC63 | Q9UGP8 | 650 |
| EXD2 | TAFAZZIN | Q16635 | 649 |
| EXD2 | SEC61A1 | P38378 | 571 |
| EXD2 | EXO1 | Q9UQ84 | 571 |
| EXD2 | BRCA1 | P38398 | 562 |
| EXD2 | NPPC | P23582 | 548 |
| EXD2 | DNA2 | P51530 | 547 |
| EXD2 | WRNIP1 | Q96S55 | 523 |
| EXD2 | RBBP8 | Q99708 | 523 |
IntAct
65 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RBBP8 | MRE11 | psi-mi:“MI:0914”(association) | 0.670 |
| ASPH | STXBP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NME3 | NME4 | psi-mi:“MI:0914”(association) | 0.640 |
| NRAS | RGL2 | psi-mi:“MI:0914”(association) | 0.550 |
| PEX19 | FAM20B | psi-mi:“MI:0914”(association) | 0.530 |
| GRAMD2B | EFCAB14 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| PEX19 | MYO1D | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP8 | EXD2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| HTRA2 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| EXD2 | CLPX | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| EXD2 | BRCA1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DCTN2 | KLHL2 | psi-mi:“MI:0914”(association) | 0.350 |
| NME3 | NME2 | psi-mi:“MI:0914”(association) | 0.350 |
| EVL | RPL23 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| MAGEA8 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| EVL | PFN2 | psi-mi:“MI:0914”(association) | 0.350 |
| FAHD1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (436): EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-Western), RBBP8 (Affinity Capture-Western), BRCA1 (Affinity Capture-Western), MRE11A (Affinity Capture-Western), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS), EXD2 (Affinity Capture-MS)
ESM2 similar proteins: A1YIZ1, A2ARP1, A7Z050, B5DFG1, E1BPN0, E7FCP8, O14976, O18373, O35385, P0C644, P33402, P46489, P49903, P57075, P97364, P97874, Q05145, Q0VC82, Q38A34, Q3V3E1, Q42713, Q43307, Q4Q0M0, Q5R4H0, Q5RDF1, Q5RF87, Q66I14, Q6ESZ9, Q6GL12, Q6PF47, Q6PFW1, Q7Z3D6, Q7ZW38, Q80V31, Q84MA1, Q8BGG7, Q8BH69, Q8BH86, Q8C0D5, Q8H1E2
Diamond homologs: A1CJ18, A2QY39, A4R715, A6RY31, A8WK63, B3LWP6, B3NZ68, B4G5C9, B4I298, B4JF25, B4K934, B4M401, B4N9D3, B4PLB3, B4QUF6, D4ACP5, O09053, O18017, O34748, O88700, O93530, O94761, O94762, P0CQ96, P0CQ97, P15043, P35187, P40724, P46063, P50729, P54132, P71359, P73421, Q09181, Q09811, Q0U7S9, Q0WVW7, Q14191, Q19546, Q1E5R1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 6 | 57.7× | 5e-07 |
| intracellular zinc ion homeostasis | 6 | 39.6× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2627 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:69229014:G:GT | donor_gain | 1.0000 |
| 14:69230470:A:AG | acceptor_gain | 1.0000 |
| 14:69230471:G:GG | acceptor_gain | 1.0000 |
| 14:69230594:ACCAG:A | donor_loss | 1.0000 |
| 14:69230597:AGG:A | donor_loss | 1.0000 |
| 14:69230598:GG:G | donor_loss | 1.0000 |
| 14:69230599:G:GA | donor_loss | 1.0000 |
| 14:69234901:G:GT | donor_gain | 1.0000 |
| 14:69234977:G:GT | donor_gain | 1.0000 |
| 14:69234978:G:T | donor_gain | 1.0000 |
| 14:69235002:A:T | donor_gain | 1.0000 |
| 14:69236044:A:AG | acceptor_gain | 1.0000 |
| 14:69236045:G:GG | acceptor_gain | 1.0000 |
| 14:69236045:GAAA:G | acceptor_gain | 1.0000 |
| 14:69236404:A:AG | acceptor_gain | 1.0000 |
| 14:69236405:A:G | acceptor_gain | 1.0000 |
| 14:69236406:G:GG | acceptor_gain | 1.0000 |
| 14:69236406:GA:G | acceptor_gain | 1.0000 |
| 14:69236543:G:GG | donor_gain | 1.0000 |
| 14:69236543:GT:G | donor_loss | 1.0000 |
| 14:69236544:T:G | donor_loss | 1.0000 |
| 14:69237573:A:AG | acceptor_gain | 1.0000 |
| 14:69237574:G:GG | acceptor_gain | 1.0000 |
| 14:69237574:GGAA:G | acceptor_gain | 1.0000 |
| 14:69237945:G:GT | donor_gain | 1.0000 |
| 14:69191588:GCAG:G | donor_gain | 0.9900 |
| 14:69191589:CAGG:C | donor_loss | 0.9900 |
| 14:69191592:G:GG | donor_gain | 0.9900 |
| 14:69191592:GTAA:G | donor_loss | 0.9900 |
| 14:69191593:T:A | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000018500 (14:69202876 A>G), RS1000063462 (14:69225168 G>T), RS1000090590 (14:69243294 A>G), RS1000102246 (14:69224426 A>G), RS1000130300 (14:69195947 G>A,T), RS1000180790 (14:69222444 C>T), RS1000182304 (14:69220260 T>A,C,G), RS1000193150 (14:69204344 A>G), RS1000277835 (14:69238202 A>C), RS1000387723 (14:69191411 C>A), RS1000405908 (14:69229265 T>C,G), RS1000536351 (14:69224151 C>T), RS1000671807 (14:69243611 A>G), RS1000724435 (14:69196174 C>A), RS1000790636 (14:69236722 AC>A)
Disease associations
OMIM: gene MIM:616940 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005232_25 | Neuroticism | 4.000000e-08 |
| GCST005316_534 | Intelligence (MTAG) | 5.000000e-09 |
| GCST007709_126 | General factor of neuroticism | 1.000000e-08 |
| GCST009391_1502 | Metabolite levels | 8.000000e-06 |
| GCST010002_155 | Refractive error | 6.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
| EFO:0004337 | intelligence |
| EFO:0010416 | triacylglycerol 52:4 measurement |
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 |
|---|---|---|
| Ozone | affects cotreatment, increases oxidation, affects expression, increases abundance | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation | 1 |
| beta-methylcholine | affects expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thiram | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SM56 | HAP1 EXD2 (-) 1 | Cancer cell line | Male |
| CVCL_SM57 | HAP1 EXD2 (-) 2 | Cancer cell line | Male |
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.