REXO4
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Also known as hPMC2
Summary
REXO4 (RNA exonuclease 4, HGNC:12820) is a protein-coding gene on chromosome 9q34.2, encoding RNA exonuclease 4 (Q9GZR2).
Enables DNA binding activity and nuclease activity. Involved in DNA catabolic process and DNA repair. Located in nuclear speck and nucleolus.
Source: NCBI Gene 57109 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_020385
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12820 |
| Approved symbol | REXO4 |
| Name | RNA exonuclease 4 |
| Location | 9q34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | hPMC2 |
| Ensembl gene | ENSG00000148300 |
| Ensembl biotype | protein_coding |
| OMIM | 602930 |
| Entrez | 57109 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000371935, ENST00000371942, ENST00000445916, ENST00000454825, ENST00000478037, ENST00000494045, ENST00000903990, ENST00000903991, ENST00000903992, ENST00000903993, ENST00000903994
RefSeq mRNA: 4 — MANE Select: NM_020385
NM_001279349, NM_001279350, NM_001279351, NM_020385
CCDS: CCDS65179, CCDS6969
Canonical transcript exons
ENST00000371942 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000984212 | 133410985 | 133411073 |
| ENSE00000984213 | 133408768 | 133408842 |
| ENSE00000984214 | 133407807 | 133407881 |
| ENSE00001135646 | 133417620 | 133418010 |
| ENSE00003510965 | 133412778 | 133412921 |
| ENSE00003532257 | 133406062 | 133407072 |
| ENSE00003591439 | 133414665 | 133415011 |
| ENSE00003670061 | 133412299 | 133412492 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 91.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2033 / max 156.6170, expressed in 1814 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102997 | 11.6484 | 1787 |
| 102998 | 7.6543 | 1753 |
| 102999 | 0.9007 | 548 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 91.96 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 90.47 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.09 | gold quality |
| muscle of leg | UBERON:0001383 | 89.97 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.24 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.33 | gold quality |
| ventricular zone | UBERON:0003053 | 88.32 | gold quality |
| muscle tissue | UBERON:0002385 | 88.00 | gold quality |
| granulocyte | CL:0000094 | 87.01 | gold quality |
| cortical plate | UBERON:0005343 | 86.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.44 | gold quality |
| apex of heart | UBERON:0002098 | 86.18 | gold quality |
| body of pancreas | UBERON:0001150 | 85.76 | gold quality |
| placenta | UBERON:0001987 | 85.48 | gold quality |
| lymph node | UBERON:0000029 | 85.27 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.20 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.19 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.14 | gold quality |
| pancreas | UBERON:0001264 | 85.05 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.04 | gold quality |
| right lobe of liver | UBERON:0001114 | 84.93 | gold quality |
| frontal cortex | UBERON:0001870 | 84.67 | gold quality |
| ovary | UBERON:0000992 | 84.63 | gold quality |
| left ovary | UBERON:0002119 | 84.59 | gold quality |
| esophagus mucosa | UBERON:0002469 | 84.54 | gold quality |
| spleen | UBERON:0002106 | 84.53 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.44 | gold quality |
| heart left ventricle | UBERON:0002084 | 84.27 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.10 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.63 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
23 targeting REXO4, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-6834-3P | 98.16 | 65.77 | 551 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-1343-5P | 96.48 | 66.06 | 1506 |
| HSA-MIR-3651 | 95.62 | 64.67 | 287 |
| HSA-MIR-4485-3P | 93.21 | 62.11 | 61 |
Literature-anchored findings (GeneRIF, showing 1)
- determined that the catalytic activity of hPMC2 is required for repair of abasic sites that result from estrogen-induced DNA damage (PMID:21602889)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rexo4 | ENSDARG00000088619 |
| mus_musculus | Rexo4 | ENSMUSG00000052406 |
| rattus_norvegicus | Rexo4 | ENSRNOG00000027867 |
| drosophila_melanogaster | CG6833 | FBGN0036405 |
Paralogs (5): REXO5 (ENSG00000005189), REXO1 (ENSG00000079313), ISG20L2 (ENSG00000143319), ISG20 (ENSG00000172183), AEN (ENSG00000181026)
Protein
Protein identifiers
RNA exonuclease 4 — Q9GZR2 (reviewed: Q9GZR2)
Alternative names: Exonuclease XPMC2, Prevents mitotic catastrophe 2 protein homolog
All UniProt accessions (3): Q9GZR2, A0A0C4DG22, A0A0C4DG31
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Can bind ESR1 and ESR2. This interaction is abrogated by estrogen and augmented by tamoxifen treatment.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the REXO4 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9GZR2-1 | 1 | yes |
| Q9GZR2-2 | 2 |
RefSeq proteins (4): NP_001266278, NP_001266279, NP_001266280, NP_065118* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR013520 | Ribonucl_H | Domain |
| IPR036397 | RNaseH_sf | Homologous_superfamily |
| IPR037431 | REX4_DEDDh_dom | Domain |
| IPR047021 | REXO1/3/4-like | Family |
Pfam: PF00929
UniProt features (15 total): compositionally biased region 3, modified residue 3, splice variant 2, sequence variant 2, chain 1, domain 1, sequence conflict 1, region of interest 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9GZR2-F1 | 71.20 | 0.41 |
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 (4): 15, 96, 111, 115
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 158 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DNA_CATABOLIC_PROCESS, CEBP_Q2, BRN2_01, PETRETTO_HEART_MASS_QTL_CIS_DN, GOBP_DNA_DAMAGE_RESPONSE, LIAO_METASTASIS, GOMF_EXONUCLEASE_ACTIVITY, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, TTCNRGNNNNTTC_HSF_Q6, GOMF_SINGLE_STRANDED_DNA_BINDING
GO Biological Process (6): DNA repair (GO:0006281), DNA catabolic process (GO:0006308), regulation of DNA-templated transcription (GO:0006355), rRNA processing (GO:0006364), RNA processing (GO:0006396), DNA metabolic process (GO:0006259)
GO Molecular Function (10): double-stranded DNA binding (GO:0003690), single-stranded DNA binding (GO:0003697), RNA binding (GO:0003723), endonuclease activity (GO:0004519), exonuclease activity (GO:0004527), 3’-5’ exonuclease activity (GO:0008408), nucleic acid binding (GO:0003676), nuclease activity (GO:0004518), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 2 |
| DNA binding | 2 |
| nuclease activity | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| DNA damage response | 1 |
| DNA nuclease activity | 1 |
| nucleic acid catabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| nucleic acid metabolic process | 1 |
| nucleic acid binding | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| exonuclease activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1988 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| REXO4 | REXO2 | Q9Y3B8 | 827 |
| REXO4 | CALCOCO2 | Q13137 | 756 |
| REXO4 | SP100 | P23497 | 567 |
| REXO4 | DEDD | O75618 | 527 |
| REXO4 | CHRAC1 | Q9NRG0 | 463 |
| REXO4 | PWP1 | Q13610 | 456 |
| REXO4 | SNF8 | Q96H20 | 445 |
| REXO4 | KLHL36 | Q8N4N3 | 403 |
| REXO4 | SUPT3H | O75486 | 398 |
| REXO4 | PDCD11 | Q14690 | 389 |
| REXO4 | ESR1 | P03372 | 380 |
| REXO4 | RBM11 | P57052 | 371 |
| REXO4 | EBPL | Q9BY08 | 367 |
| REXO4 | HCCS | P53701 | 367 |
| REXO4 | RASGEF1C | Q8N431 | 362 |
IntAct
208 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RBM34 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL7A | NOP56 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| HSF2BP | REXO4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REXO4 | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOS3 | REXO4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | REXO4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL8 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (332): REXO4 (Affinity Capture-RNA), REXO4 (Affinity Capture-RNA), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Co-fractionation), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS), REXO4 (Affinity Capture-MS)
ESM2 similar proteins: A3BT52, A6NIR3, A6QUM7, B5X564, F4HZF0, F4I114, F4ICB6, F4J394, O49289, P0CQ44, P0CQ45, P34442, Q09719, Q24617, Q38740, Q4IEV5, Q4PER6, Q4WHF8, Q61CX7, Q63553, Q6CE69, Q6CFE7, Q6CMT3, Q6DEW6, Q6P158, Q6P5D3, Q6PAQ4, Q753D9, Q757I9, Q7S9B7, Q8BRB7, Q8HXN7, Q8T3G2, Q8UVR5, Q8VDU5, Q8W1Y3, Q8WML3, Q8WYB5, Q91560, Q92794
Diamond homologs: A1A5R7, A1Z7K9, A3KPE8, A3LRV8, A4RF51, A5DAD0, A5E1W0, B2GUW6, G0SAK8, O94375, O94443, P0C581, P0CQ08, P0CQ09, P0CQ44, P0CQ45, P48778, P53010, P53015, P53331, Q08237, Q09798, Q0CJU7, Q10124, Q2GSV2, Q2T9U5, Q2YDK1, Q3U1G5, Q4PER6, Q4R9F7, Q4WYA1, Q504Q3, Q54U94, Q5AL29, Q5APK0, Q5B367, Q5F450, Q5REE2, Q6AXU3, Q6C462
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 170 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 |
|---|---|---|---|
| Peptide chain elongation | 23 | 27.8× | 1e-25 |
| Viral mRNA Translation | 23 | 27.8× | 1e-25 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 23 | 27.5× | 1e-25 |
| Selenocysteine synthesis | 23 | 26.3× | 3e-25 |
| Eukaryotic Translation Termination | 23 | 26.3× | 3e-25 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 23 | 25.8× | 4e-25 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 23 | 25.8× | 4e-25 |
| Formation of a pool of free 40S subunits | 23 | 24.5× | 1e-24 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 5 | 36.2× | 3e-05 |
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 5 | 30.2× | 6e-05 |
| cytoplasmic translation | 24 | 28.7× | 7e-26 |
| chromosome condensation | 5 | 27.2× | 1e-04 |
| ribosomal small subunit biogenesis | 14 | 20.6× | 1e-12 |
| ribosomal large subunit biogenesis | 6 | 17.2× | 1e-04 |
| translation | 24 | 15.9× | 1e-19 |
| rRNA processing | 16 | 14.6× | 3e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1427 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:133407805:A:AC | donor_gain | 1.0000 |
| 9:133407806:C:CA | donor_gain | 1.0000 |
| 9:133407806:CTGA:C | donor_gain | 1.0000 |
| 9:133407806:CTGAA:C | donor_gain | 1.0000 |
| 9:133407878:CACT:C | acceptor_gain | 1.0000 |
| 9:133407880:CT:C | acceptor_gain | 1.0000 |
| 9:133407882:C:CC | acceptor_gain | 1.0000 |
| 9:133408764:GTA:G | donor_loss | 1.0000 |
| 9:133408765:TA:T | donor_loss | 1.0000 |
| 9:133408766:A:C | donor_loss | 1.0000 |
| 9:133408775:TG:T | donor_gain | 1.0000 |
| 9:133408839:GTAC:G | acceptor_gain | 1.0000 |
| 9:133408840:TAC:T | acceptor_gain | 1.0000 |
| 9:133408841:ACCTA:A | acceptor_loss | 1.0000 |
| 9:133408842:CCTAG:C | acceptor_loss | 1.0000 |
| 9:133408843:C:CC | acceptor_gain | 1.0000 |
| 9:133408843:CTAG:C | acceptor_loss | 1.0000 |
| 9:133410981:GTA:G | donor_loss | 1.0000 |
| 9:133410982:TACCT:T | donor_loss | 1.0000 |
| 9:133410984:C:A | donor_loss | 1.0000 |
| 9:133411069:TTCTC:T | acceptor_gain | 1.0000 |
| 9:133411071:CTC:C | acceptor_gain | 1.0000 |
| 9:133411072:TC:T | acceptor_gain | 1.0000 |
| 9:133411073:CC:C | acceptor_gain | 1.0000 |
| 9:133411073:CCTG:C | acceptor_loss | 1.0000 |
| 9:133411074:C:CC | acceptor_gain | 1.0000 |
| 9:133411075:T:A | acceptor_loss | 1.0000 |
| 9:133412297:AC:A | donor_gain | 1.0000 |
| 9:133412298:CC:C | donor_gain | 1.0000 |
| 9:133412298:CCCTG:C | donor_gain | 1.0000 |
AlphaMissense
2779 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:133412340:C:G | R290T | 0.994 |
| 9:133412402:G:C | N269K | 0.994 |
| 9:133412402:G:T | N269K | 0.994 |
| 9:133408808:C:G | R345P | 0.993 |
| 9:133411006:G:C | H326Q | 0.992 |
| 9:133411006:G:T | H326Q | 0.992 |
| 9:133411010:C:T | G325E | 0.992 |
| 9:133412339:C:A | R290S | 0.992 |
| 9:133412339:C:G | R290S | 0.992 |
| 9:133412340:C:A | R290M | 0.992 |
| 9:133412413:A:G | S266P | 0.992 |
| 9:133412418:C:G | R264P | 0.992 |
| 9:133412421:G:T | A263D | 0.992 |
| 9:133412468:G:C | D247E | 0.992 |
| 9:133412468:G:T | D247E | 0.992 |
| 9:133407019:C:A | W401C | 0.991 |
| 9:133407019:C:G | W401C | 0.991 |
| 9:133407065:T:G | D386A | 0.991 |
| 9:133408806:C:G | D346H | 0.991 |
| 9:133412327:A:C | S294R | 0.991 |
| 9:133412327:A:T | S294R | 0.991 |
| 9:133412329:T:G | S294R | 0.991 |
| 9:133412370:A:T | V280D | 0.991 |
| 9:133412475:G:T | A245D | 0.991 |
| 9:133407021:A:G | W401R | 0.990 |
| 9:133407021:A:T | W401R | 0.990 |
| 9:133412412:G:A | S266F | 0.990 |
| 9:133412462:C:A | E249D | 0.990 |
| 9:133412462:C:G | E249D | 0.990 |
| 9:133412463:T:A | E249V | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000072422 (9:133414106 C>T), RS1000486126 (9:133408399 C>A), RS1000586973 (9:133415624 C>T), RS1000673228 (9:133410743 C>T), RS1000966775 (9:133419270 G>C), RS1001273143 (9:133419030 G>T), RS1001304283 (9:133408934 T>C,G), RS1001439782 (9:133409213 C>T), RS1001620347 (9:133407618 G>A), RS1002298160 (9:133414373 A>T), RS1002318542 (9:133411657 T>C), RS1002330166 (9:133417179 T>A), RS1002468217 (9:133419575 A>G,T), RS1002535539 (9:133415564 G>C), RS1002563267 (9:133419181 T>C)
Disease associations
OMIM: gene MIM:602930 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004750_24 | Squamous cell lung carcinoma | 6.000000e-07 |
| GCST010725_19 | Malaria | 9.000000e-11 |
| GCST010725_31 | Malaria | 9.000000e-21 |
| GCST010725_98 | Malaria | 1.000000e-19 |
| GCST012516_2 | ABO blood group (AB vs O) | 6.000000e-18 |
| GCST012517_2 | ABO blood group (B vs O) | 4.000000e-22 |
| GCST012518_2 | ABO blood group (A vs O) | 2.000000e-17 |
| GCST012519_2 | ABO blood group (AB vs non-AB) | 3.000000e-08 |
| GCST012520_2 | ABO blood group (B vs non-B) | 8.000000e-09 |
| GCST012522_2 | ABO blood group (O vs non-O) | 3.000000e-28 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0600062 | blood group AB |
| EFO:0600063 | blood group O |
| EFO:0600061 | blood group B |
| EFO:0600060 | blood group A |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bufotalin | increases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| deoxynivalenol | increases expression | 1 |
| terbufos | increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | increases expression | 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 | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Parathion | increases methylation | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2DN | Abcam HeLa REXO4 KO | Cancer cell line | Female |
| CVCL_TI88 | HAP1 REXO4 (-) 1 | Cancer cell line | Male |
| CVCL_XS25 | HAP1 REXO4 (-) 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): malaria, squamous cell lung carcinoma