ZCCHC7
gene geneOn this page
Also known as FLJ22611AIR1
Summary
ZCCHC7 (zinc finger CCHC-type containing 7, HGNC:26209) is a protein-coding gene on chromosome 9p13.2, encoding Zinc finger CCHC domain-containing protein 7 (Q8N3Z6).
Enables RNA binding activity. Predicted to be involved in nuclear RNA surveillance. Located in cytosol and nucleolus.
Source: NCBI Gene 84186 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 92 total
- MANE Select transcript:
NM_032226
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26209 |
| Approved symbol | ZCCHC7 |
| Name | zinc finger CCHC-type containing 7 |
| Location | 9p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22611, AIR1 |
| Ensembl gene | ENSG00000147905 |
| Ensembl biotype | protein_coding |
| Entrez | 84186 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 26 protein_coding, 6 protein_coding_CDS_not_defined
ENST00000322831, ENST00000336755, ENST00000461038, ENST00000463625, ENST00000481507, ENST00000488607, ENST00000496099, ENST00000497924, ENST00000534928, ENST00000908248, ENST00000908249, ENST00000908250, ENST00000908251, ENST00000908252, ENST00000908253, ENST00000908254, ENST00000908255, ENST00000908256, ENST00000908257, ENST00000908258, ENST00000936927, ENST00000936928, ENST00000936929, ENST00000936930, ENST00000936931, ENST00000936932, ENST00000936933, ENST00000936934, ENST00000936935, ENST00000936936, ENST00000936937, ENST00000962617
RefSeq mRNA: 4 — MANE Select: NM_032226
NM_001289119, NM_001289120, NM_001289121, NM_032226
CCDS: CCDS6608
Canonical transcript exons
ENST00000336755 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001852696 | 37120574 | 37120623 |
| ENSE00003464004 | 37356835 | 37358149 |
| ENSE00003464645 | 37327799 | 37327834 |
| ENSE00003495130 | 37126312 | 37126942 |
| ENSE00003513270 | 37354710 | 37354824 |
| ENSE00003587848 | 37349357 | 37349452 |
| ENSE00003596114 | 37304188 | 37304313 |
| ENSE00003684411 | 37302188 | 37302231 |
| ENSE00003721023 | 37305544 | 37305714 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 97.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5201 / max 558.0974, expressed in 1805 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 96701 | 20.0834 | 1805 |
| 96720 | 0.2555 | 42 |
| 96705 | 0.0529 | 8 |
| 96724 | 0.0388 | 7 |
| 96706 | 0.0367 | 8 |
| 96723 | 0.0184 | 9 |
| 96725 | 0.0132 | 5 |
| 96707 | 0.0081 | 1 |
| 96704 | 0.0075 | 4 |
| 96708 | 0.0056 | 2 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.60 | gold quality |
| tendon | UBERON:0000043 | 96.70 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.81 | gold quality |
| oviduct epithelium | UBERON:0004804 | 95.64 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.99 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.23 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.70 | gold quality |
| bone marrow cell | CL:0002092 | 90.79 | gold quality |
| parotid gland | UBERON:0001831 | 90.76 | gold quality |
| sural nerve | UBERON:0015488 | 90.65 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.57 | gold quality |
| oocyte | CL:0000023 | 90.49 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.78 | gold quality |
| cauda epididymis | UBERON:0004360 | 88.48 | gold quality |
| caput epididymis | UBERON:0004358 | 88.21 | gold quality |
| lymph node | UBERON:0000029 | 87.82 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.79 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.77 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.66 | gold quality |
| upper leg skin | UBERON:0004262 | 87.64 | gold quality |
| cortical plate | UBERON:0005343 | 87.62 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.32 | gold quality |
| bone marrow | UBERON:0002371 | 87.14 | gold quality |
| superficial temporal artery | UBERON:0001614 | 87.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.53 | gold quality |
| seminal vesicle | UBERON:0000998 | 86.30 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 86.19 | gold quality |
| blood | UBERON:0000178 | 86.03 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.71 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.60 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10432 | yes | 587.52 |
| E-CURD-112 | yes | 485.27 |
| E-HCAD-6 | yes | 397.06 |
| E-HCAD-4 | yes | 55.00 |
| E-MTAB-9067 | yes | 15.94 |
| E-HCAD-10 | yes | 14.08 |
| E-ANND-3 | yes | 8.98 |
| E-MTAB-10042 | yes | 6.50 |
| E-CURD-122 | yes | 5.68 |
| E-MTAB-7249 | no | 792.42 |
| E-MTAB-6386 | no | 260.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
44 targeting ZCCHC7, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-4526 | 99.68 | 67.07 | 1136 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-8070 | 99.07 | 69.30 | 1303 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-154-5P | 98.92 | 66.65 | 733 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-4782-5P | 98.35 | 69.33 | 1474 |
Literature-anchored findings (GeneRIF, showing 2)
- Data show that sequences 3’ of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3’ of FRG1B and LOC1499503. (PMID:19586940)
- We analyzed the interactions of the human TRAMP-like proteins, PAPD5, ZCCHC7, and MTR4, with the nuclear exosome. PAPD5 and ZCCHC7 exhibited mutual interactions in presence of the exosome catalytic subunit RRP6, whereas MTR4 was dispensable for their assembly (PMID:27434818)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zcchc7 | ENSDARG00000055443 |
| mus_musculus | Zcchc7 | ENSMUSG00000035649 |
| rattus_norvegicus | Zcchc7 | ENSRNOG00000013078 |
Paralogs (3): ZCCHC9 (ENSG00000131732), CNBP (ENSG00000169714), ZCCHC13 (ENSG00000187969)
Protein
Protein identifiers
Zinc finger CCHC domain-containing protein 7 — Q8N3Z6 (reviewed: Q8N3Z6)
Alternative names: TRAMP-like complex RNA-binding factor ZCCHC7
All UniProt accessions (2): Q8N3Z6, X6R4A7
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of a nucleolar TRAMP-like complex, an ATP-dependent exosome regulatory complex consisting of a helicase (MTREX), an oligadenylate polymerase (TENT4B or TENT4A), and a substrate specific RNA-binding factor (ZCCHC7 or ZCCHC8). Several TRAMP-like complexes exist with specific compositions and are associated with nuclear, or nucleolar RNA exosomes.
Subcellular location. Nucleus. Nucleolus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N3Z6-1 | 1 | yes |
| Q8N3Z6-2 | 2 |
RefSeq proteins (4): NP_001276048, NP_001276049, NP_001276050, NP_115602* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001878 | Znf_CCHC | Domain |
| IPR036875 | Znf_CCHC_sf | Homologous_superfamily |
| IPR051644 | TRAMP_AT-DNA-binding | Family |
Pfam: PF00098
UniProt features (38 total): cross-link 14, compositionally biased region 6, sequence conflict 5, zinc finger region 4, modified residue 2, splice variant 2, sequence variant 2, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N3Z6-F1 | 53.92 | 0.00 |
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 (16): 482, 485, 131, 139, 141, 239, 254, 339, 412, 417, 435, 478, 487, 490, 493, 537
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 109 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_SNO_S_RNA_METABOLIC_PROCESS, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_RNA_SURVEILLANCE, USF_01, chr9p13, RYTTCCTG_ETS2_B, ELK1_01, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEOLUS, SCGGAAGY_ELK1_02, MYCMAX_03, MAX_01
GO Biological Process (6): nuclear mRNA surveillance of mRNA 3’-end processing (GO:0071031), nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035), nuclear polyadenylation-dependent snoRNA catabolic process (GO:0071036), nuclear polyadenylation-dependent snRNA catabolic process (GO:0071037), TRAMP-dependent tRNA surveillance pathway (GO:0071038), nuclear polyadenylation-dependent CUT catabolic process (GO:0071039)
GO Molecular Function (5): RNA binding (GO:0003723), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleolus (GO:0005730), cytosol (GO:0005829), TRAMP complex (GO:0031499), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear RNA surveillance | 5 |
| binding | 2 |
| nuclear mRNA surveillance | 1 |
| nuclear polyadenylation-dependent mRNA catabolic process | 1 |
| sno(s)RNA catabolic process | 1 |
| poly(A)-dependent snoRNA 3’-end processing | 1 |
| snRNA catabolic process | 1 |
| tRNA surveillance | 1 |
| CUT catabolic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1914 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZCCHC7 | MTREX | P42285 | 998 |
| ZCCHC7 | TENT4A | Q5XG87 | 997 |
| ZCCHC7 | PAPOLA | P51003 | 995 |
| ZCCHC7 | PAPOLG | Q9BWT3 | 995 |
| ZCCHC7 | PAPOLB | Q9NRJ5 | 995 |
| ZCCHC7 | TENT4B | Q8NDF8 | 995 |
| ZCCHC7 | EXOSC10 | Q01780 | 883 |
| ZCCHC7 | RBM7 | Q9Y580 | 860 |
| ZCCHC7 | ZCCHC8 | Q6NZY4 | 793 |
| ZCCHC7 | DIS3 | Q9Y2L1 | 764 |
| ZCCHC7 | C1D | Q13901 | 748 |
| ZCCHC7 | ZFC3H1 | O60293 | 716 |
| ZCCHC7 | SKIC2 | Q15477 | 715 |
| ZCCHC7 | EXOSC1 | Q9Y3B2 | 690 |
| ZCCHC7 | SETX | Q7Z333 | 678 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SART1 | PRPF6 | psi-mi:“MI:0914”(association) | 0.750 |
| RPL10A | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL12 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| UBE2I | ZCCHC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ZCCHC7 | CARD9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ZNF250 | ZCCHC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE1E | ZCCHC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | NEK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | GIPC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SUMO1 | ZCCHC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZCCHC7 | NPM1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| ZCCHC7 | RPL13 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (84): ZCCHC7 (Two-hybrid), ZCCHC7 (Two-hybrid), ZCCHC7 (Two-hybrid), ZCCHC7 (Affinity Capture-MS), ZCCHC7 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), HDLBP (Affinity Capture-MS), SENP5 (Affinity Capture-MS), EIF2S2 (Affinity Capture-MS), HDGFRP2 (Affinity Capture-MS), ZNHIT6 (Affinity Capture-MS), FAM208A (Affinity Capture-MS), ZCCHC7 (Affinity Capture-MS), ZCCHC7 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS)
ESM2 similar proteins: A0JNH9, A1L2T6, A2A3V1, A7E3D8, A8MT70, A9C3N6, A9JRX0, B0CM36, B1AX39, B1WC15, E7FAP1, F1R983, O95447, P0DPK0, P23497, P46100, Q09003, Q0IIM1, Q0P5X5, Q28EG9, Q2KIN0, Q3UHX0, Q4R3Q7, Q5H9M0, Q5T5J6, Q5U2Y9, Q5ZLE9, Q66H73, Q6GNV6, Q6GQJ2, Q6IE81, Q6IE82, Q6PG04, Q6ZPI0, Q6ZUT1, Q76FK4, Q7TSG3, Q7YQM3, Q7YQM4, Q80WQ8
Diamond homologs: A1L2T6, B1AX39, B1WC15, Q2KIN0, Q8N3Z6
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZCCHC7 | “form complex” | “NEXT complex, TENT4B-ZCCHC7 variant” | binding |
| ZCCHC7 | “form complex” | “NEXT complex, TENT4A-ZCCHC7 variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 | 11 | 30.3× | 2e-12 |
| Viral mRNA Translation | 11 | 30.3× | 2e-12 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 11 | 30.0× | 2e-12 |
| Selenocysteine synthesis | 11 | 28.8× | 2e-12 |
| Eukaryotic Translation Termination | 11 | 28.8× | 2e-12 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 11 | 28.1× | 2e-12 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 11 | 28.1× | 2e-12 |
| Formation of a pool of free 40S subunits | 11 | 26.8× | 4e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 36.4× | 1e-13 |
| ribosomal large subunit biogenesis | 5 | 36.4× | 3e-05 |
| translation | 11 | 18.5× | 3e-09 |
| rRNA processing | 6 | 13.9× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
92 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4451 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:37120624:G:GG | donor_gain | 1.0000 |
| 9:37126310:A:AG | acceptor_gain | 1.0000 |
| 9:37126311:G:GA | acceptor_gain | 1.0000 |
| 9:37126311:GC:G | acceptor_gain | 1.0000 |
| 9:37126311:GCTTC:G | acceptor_gain | 1.0000 |
| 9:37302182:TTGTA:T | acceptor_loss | 1.0000 |
| 9:37302183:TGTAG:T | acceptor_loss | 1.0000 |
| 9:37302184:GTAG:G | acceptor_loss | 1.0000 |
| 9:37302185:TA:T | acceptor_loss | 1.0000 |
| 9:37302186:A:AG | acceptor_gain | 1.0000 |
| 9:37302186:AGG:A | acceptor_loss | 1.0000 |
| 9:37302187:G:GG | acceptor_gain | 1.0000 |
| 9:37302187:G:GT | acceptor_loss | 1.0000 |
| 9:37302228:TGAGG:T | acceptor_loss | 1.0000 |
| 9:37304184:TTAG:T | acceptor_loss | 1.0000 |
| 9:37304185:TA:T | acceptor_loss | 1.0000 |
| 9:37304186:A:AC | acceptor_loss | 1.0000 |
| 9:37304186:A:AG | acceptor_gain | 1.0000 |
| 9:37304186:AGGCC:A | acceptor_gain | 1.0000 |
| 9:37304187:G:GG | acceptor_gain | 1.0000 |
| 9:37304312:GA:G | donor_gain | 1.0000 |
| 9:37304314:G:GG | donor_gain | 1.0000 |
| 9:37305534:C:CA | acceptor_gain | 1.0000 |
| 9:37305541:T:G | acceptor_gain | 1.0000 |
| 9:37305542:A:AG | acceptor_gain | 1.0000 |
| 9:37305543:G:GA | acceptor_gain | 1.0000 |
| 9:37305543:GAAA:G | acceptor_gain | 1.0000 |
| 9:37305710:CAGAT:C | donor_gain | 1.0000 |
| 9:37305711:AGAT:A | donor_gain | 1.0000 |
| 9:37305712:GAT:G | donor_gain | 1.0000 |
AlphaMissense
3617 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:37304286:T:A | H251Q | 0.993 |
| 9:37304286:T:G | H251Q | 0.993 |
| 9:37304260:T:A | C243S | 0.991 |
| 9:37304260:T:C | C243R | 0.991 |
| 9:37304261:G:C | C243S | 0.991 |
| 9:37327814:T:A | W323R | 0.991 |
| 9:37327814:T:C | W323R | 0.991 |
| 9:37327816:G:C | W323C | 0.991 |
| 9:37327816:G:T | W323C | 0.991 |
| 9:37304299:T:C | C256R | 0.990 |
| 9:37327822:G:C | Q325H | 0.990 |
| 9:37327822:G:T | Q325H | 0.990 |
| 9:37304262:T:G | C243W | 0.989 |
| 9:37304269:T:A | C246S | 0.989 |
| 9:37304270:G:C | C246S | 0.989 |
| 9:37126858:T:A | W176R | 0.988 |
| 9:37126858:T:C | W176R | 0.988 |
| 9:37327819:G:C | R324S | 0.988 |
| 9:37327819:G:T | R324S | 0.988 |
| 9:37302205:T:A | W210R | 0.987 |
| 9:37302205:T:C | W210R | 0.987 |
| 9:37304261:G:A | C243Y | 0.987 |
| 9:37304299:T:A | C256S | 0.987 |
| 9:37304300:G:C | C256S | 0.987 |
| 9:37126862:T:C | M177T | 0.986 |
| 9:37327826:C:G | H327D | 0.986 |
| 9:37304284:C:G | H251D | 0.985 |
| 9:37304301:C:G | C256W | 0.985 |
| 9:37327818:G:C | R324T | 0.985 |
| 9:37305688:T:A | C309S | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000003440 (9:37123436 A>G), RS1000022929 (9:37351180 C>T), RS1000029438 (9:37148641 T>C), RS1000037542 (9:37147237 G>A), RS1000038246 (9:37306923 G>C), RS1000045184 (9:37165158 A>G,T), RS1000060484 (9:37208338 G>A), RS1000062072 (9:37138377 G>A), RS1000063699 (9:37355774 GA>G,GAA), RS1000091632 (9:37129735 A>G,T), RS1000095712 (9:37260712 C>A), RS1000106220 (9:37195242 C>T), RS1000139970 (9:37261081 C>T), RS1000162697 (9:37141980 A>G), RS1000171911 (9:37214328 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002818_5 | HIV-1 susceptibility | 4.000000e-07 |
| GCST002818_7 | HIV-1 susceptibility | 5.000000e-07 |
| GCST007565_167 | Morning person | 2.000000e-16 |
| GCST007565_180 | Morning person | 4.000000e-17 |
| GCST007565_33 | Morning person | 1.000000e-16 |
| GCST007576_252 | Chronotype | 4.000000e-17 |
| GCST007930_26 | Medication use (agents acting on the renin-angiotensin system) | 4.000000e-08 |
| GCST008103_35 | Bipolar disorder | 8.000000e-08 |
| GCST008521_10 | Bitter beverage consumption | 8.000000e-06 |
| GCST008869_3 | Metabolite risk score for predicting weight gain | 4.000000e-07 |
| GCST009088_3 | Severe bacterial meningitis | 7.000000e-07 |
| GCST009600_29 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 4.000000e-08 |
| GCST011350_17 | C-reactive protein levels | 9.000000e-10 |
| GCST012465_61 | Bipolar disorder | 2.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000180 | HIV-1 infection |
| EFO:0008328 | chronotype measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0010089 | bitter beverage consumption measurement |
| EFO:0004566 | body weight gain |
| EFO:0004725 | metabolite measurement |
| EFO:0004458 | C-reactive protein measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | decreases expression, affects cotreatment | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, affects expression, increases expression | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| Ozone | affects cotreatment, decreases expression, increases abundance, affects expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, decreases reaction, increases abundance | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
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): bacterial meningitis