NIP7
gene geneOn this page
Also known as CGI-37FLJ10296HSPC031KD93
Summary
NIP7 (nucleolar pre-rRNA processing protein NIP7, HGNC:24328) is a protein-coding gene on chromosome 16q22.1, encoding 60S ribosome subunit biogenesis protein NIP7 homolog (Q9Y221). Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm.
Source: NCBI Gene 51388 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 36 total
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016101
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24328 |
| Approved symbol | NIP7 |
| Name | nucleolar pre-rRNA processing protein NIP7 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-37, FLJ10296, HSPC031, KD93 |
| Ensembl gene | ENSG00000132603 |
| Ensembl biotype | protein_coding |
| OMIM | 619204 |
| Entrez | 51388 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 3 retained_intron
ENST00000254940, ENST00000254941, ENST00000562131, ENST00000562523, ENST00000563364, ENST00000565034, ENST00000567202, ENST00000569637, ENST00000937746
RefSeq mRNA: 2 — MANE Select: NM_016101
NM_001199434, NM_016101
CCDS: CCDS10877, CCDS56003
Canonical transcript exons
ENST00000254940 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000904600 | 69340006 | 69340092 |
| ENSE00000904606 | 69341180 | 69341320 |
| ENSE00001872045 | 69341533 | 69343106 |
| ENSE00001912636 | 69339772 | 69339885 |
| ENSE00003668941 | 69340194 | 69340332 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 94.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6124 / max 332.3969, expressed in 1813 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154814 | 17.1330 | 1785 |
| 154813 | 4.3633 | 1551 |
| 154815 | 0.1008 | 20 |
| 154812 | 0.0153 | 5 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 94.93 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 88.40 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.34 | gold quality |
| oral cavity | UBERON:0000167 | 87.94 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.92 | gold quality |
| nipple | UBERON:0002030 | 87.57 | gold quality |
| oocyte | CL:0000023 | 86.95 | gold quality |
| gingiva | UBERON:0001828 | 86.92 | gold quality |
| superior surface of tongue | UBERON:0007371 | 86.53 | gold quality |
| rectum | UBERON:0001052 | 86.52 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 86.42 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.42 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.31 | gold quality |
| cauda epididymis | UBERON:0004360 | 86.28 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 86.19 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.15 | gold quality |
| leukocyte | CL:0000738 | 85.97 | gold quality |
| colonic mucosa | UBERON:0000317 | 85.97 | gold quality |
| lymph node | UBERON:0000029 | 85.96 | gold quality |
| monocyte | CL:0000576 | 85.88 | gold quality |
| mononuclear cell | CL:0000842 | 85.75 | gold quality |
| squamous epithelium | UBERON:0006914 | 85.70 | gold quality |
| bone marrow | UBERON:0002371 | 85.66 | gold quality |
| tonsil | UBERON:0002372 | 85.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.47 | gold quality |
| endometrium | UBERON:0001295 | 85.42 | gold quality |
| corpus epididymis | UBERON:0004359 | 85.24 | gold quality |
| penis | UBERON:0000989 | 85.10 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 663.08 |
| E-ANND-3 | yes | 6.55 |
| E-HCAD-5 | no | 2.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting NIP7, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- KD93 is a novel protein expressed in human hematopoietic stem/progenitor cells (PMID:15522784)
- SBDS is found in complexes containing the human Nip7 ortholog. (PMID:17643419)
- Downregulation of NIP7 affects pre-rRNA processing, causing an imbalance of the 40S/60S subunit ratio. (PMID:20798176)
- The results presented in this work indicate a close functional interaction between NIP7 and FTSJ3 during pre-rRNA processing and show that FTSJ3 participates in ribosome synthesis in human cells. (PMID:22195017)
- The Cox regression model revealed that only NIP7, RPL10L, and MCM2 exhibited significant correlation with distant recurrence-free survival in liposarcoma in the GSE30929 dataset, and the regression coefficients were -0.676, -0.703, and 0.868, respectively (PMID:30317246)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nip7 | ENSDARG00000059075 |
| mus_musculus | Nip7 | ENSMUSG00000031917 |
| rattus_norvegicus | Nip7 | ENSRNOG00000020391 |
| drosophila_melanogaster | CG7006 | FBGN0039233 |
| caenorhabditis_elegans | C43E11.9 | WBGENE00016607 |
Paralogs (2): CKS2 (ENSG00000123975), CKS1B (ENSG00000173207)
Protein
Protein identifiers
60S ribosome subunit biogenesis protein NIP7 homolog — Q9Y221 (reviewed: Q9Y221)
Alternative names: KD93, Nucleolar pre-rRNA processing protein NIP7
All UniProt accessions (4): Q9Y221, J3QLW7, J3QRD6, J3QRR4
UniProt curated annotations — full annotation on UniProt →
Function. Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly.
Subunit / interactions. Monomer. Interacts with pre-ribosome complex. May bind to RNA. Interacts with NOL8. May interact with SBDS. Interacts with FTSJ3. Interacts with DDX24.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed in hematopoietic stem/progenitor cells.
Similarity. Belongs to the NIP7 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y221-1 | 1 | yes |
| Q9Y221-2 | 2 |
RefSeq proteins (2): NP_001186363, NP_057185* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002478 | PUA | Domain |
| IPR005155 | UPF0113_PUA | Domain |
| IPR015947 | PUA-like_sf | Homologous_superfamily |
| IPR016686 | Ribosomal_synth_fac_NIP7 | Family |
| IPR036974 | PUA_sf | Homologous_superfamily |
| IPR040598 | NIP7_N | Domain |
| IPR055359 | Nip7_N_euk | Domain |
Pfam: PF03657, PF17833
UniProt features (30 total): helix 12, strand 9, turn 2, region of interest 2, chain 1, domain 1, splice variant 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1SQW | X-RAY DIFFRACTION | 1.9 |
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 1T5Y | X-RAY DIFFRACTION | 2.5 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y221-F1 | 93.91 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 55 | markedly reduced interaction with ddx24. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 166 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, ELVIDGE_HYPOXIA_DN, GOBP_RIBOSOME_BIOGENESIS, chr16q22, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_RIBOSOME_ASSEMBLY, TERAMOTO_OPN_TARGETS_CLUSTER_3, GOBP_ORGANELLE_ASSEMBLY, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, GRADE_COLON_AND_RECTAL_CANCER_UP, REACTOME_METABOLISM_OF_RNA, GOCC_PRERIBOSOME
GO Biological Process (3): ribosome assembly (GO:0042255), ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), preribosome, large subunit precursor (GO:0030687), nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| nuclear lumen | 2 |
| membraneless organelle assembly | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2630 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NIP7 | NOL8 | Q76FK4 | 954 |
| NIP7 | EXOSC8 | Q96B26 | 915 |
| NIP7 | FTSJ3 | Q8IY81 | 838 |
| NIP7 | RSL24D1 | Q9UHA3 | 825 |
| NIP7 | NOP2 | P46087 | 820 |
| NIP7 | RPF2 | Q9H7B2 | 794 |
| NIP7 | WDR12 | Q9GZL7 | 784 |
| NIP7 | NOP53 | Q9NZM5 | 771 |
| NIP7 | EBNA1BP2 | Q99848 | 757 |
| NIP7 | NSA2 | O95478 | 744 |
| NIP7 | NIFK | Q9BYG3 | 739 |
| NIP7 | PAK1IP1 | Q9NWT1 | 716 |
| NIP7 | RRAGA | Q7L523 | 709 |
| NIP7 | RRAGC | Q9HB90 | 708 |
| NIP7 | RRAGD | Q9NQL2 | 705 |
IntAct
130 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBFB | RUNX1 | psi-mi:“MI:0914”(association) | 0.870 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NOP2 | NIP7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DNAJC8 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| NECAB2 | NIP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NIP7 | CRX | psi-mi:“MI:0915”(physical association) | 0.560 |
| NIP7 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRX | NIP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LZTS2 | NIP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NIP7 | NECAB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NIP7 | OPTN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3HAV1 | KHNYN | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| NHSL3 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
BioGRID (223): NIP7 (Two-hybrid), NIP7 (Two-hybrid), NECAB2 (Two-hybrid), LZTS2 (Two-hybrid), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NIP7 (Two-hybrid), CEBPZ (Co-fractionation), DDX24 (Co-fractionation), GLTSCR2 (Co-fractionation), NIP7 (Co-fractionation)
ESM2 similar proteins: A1JU75, A2BK57, A4QND5, A4ZUA5, A6URG2, B0G104, B5Y822, O14228, O26715, O26868, O27544, O28112, O28293, O28826, O29145, O83462, P02962, P0C2V7, P0C8H0, P0C8H2, P0C8H3, P0CAA4, P24154, P50348, P55489, P58828, P80305, Q07739, Q09MI6, Q14FG5, Q3V4V8, Q4T2X8, Q50533, Q56P27, Q58254, Q5PB42, Q5R9J1, Q65143, Q65189, Q6DFH9
Diamond homologs: A4QND5, B0G104, Q08962, Q1MTQ9, Q4T2X8, Q503P2, Q56P27, Q5R9J1, Q6DFH9, Q9CXK8, Q9WV50, Q9Y221
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 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 | 13 | 18.3× | 2e-11 |
| Viral mRNA Translation | 13 | 18.3× | 2e-11 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 13 | 18.1× | 2e-11 |
| Selenocysteine synthesis | 13 | 17.4× | 3e-11 |
| Eukaryotic Translation Termination | 13 | 17.4× | 3e-11 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 13 | 17.0× | 3e-11 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 13 | 17.0× | 3e-11 |
| rRNA modification in the nucleus and cytosol | 8 | 16.6× | 7e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 8 | 29.1× | 4e-08 |
| positive regulation of transcription by RNA polymerase I | 5 | 26.6× | 1e-04 |
| rRNA processing | 17 | 19.7× | 8e-15 |
| cytoplasmic translation | 13 | 19.7× | 3e-11 |
| ribosomal small subunit biogenesis | 9 | 16.8× | 4e-07 |
| negative regulation of viral genome replication | 5 | 15.3× | 2e-03 |
| translation | 13 | 10.9× | 4e-08 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 10.0× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
656 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:69339618:G:GT | donor_gain | 1.0000 |
| 16:69339886:G:GG | donor_gain | 1.0000 |
| 16:69340088:GTGAG:G | donor_gain | 1.0000 |
| 16:69340185:C:G | acceptor_gain | 1.0000 |
| 16:69340190:TTAGT:T | acceptor_loss | 1.0000 |
| 16:69340191:TA:T | acceptor_loss | 1.0000 |
| 16:69340192:A:AG | acceptor_gain | 1.0000 |
| 16:69340192:A:G | acceptor_loss | 1.0000 |
| 16:69340192:AGT:A | acceptor_gain | 1.0000 |
| 16:69340193:G:GA | acceptor_gain | 1.0000 |
| 16:69340193:GT:G | acceptor_gain | 1.0000 |
| 16:69340193:GTG:G | acceptor_gain | 1.0000 |
| 16:69340193:GTGA:G | acceptor_gain | 1.0000 |
| 16:69340328:CCAAG:C | donor_loss | 1.0000 |
| 16:69340329:CAAGG:C | donor_loss | 1.0000 |
| 16:69340330:AAG:A | donor_loss | 1.0000 |
| 16:69340332:GGTT:G | donor_loss | 1.0000 |
| 16:69341167:A:AG | acceptor_gain | 1.0000 |
| 16:69341177:TAGT:T | acceptor_loss | 1.0000 |
| 16:69341178:A:AG | acceptor_gain | 1.0000 |
| 16:69341178:AGT:A | acceptor_loss | 1.0000 |
| 16:69341179:G:GT | acceptor_gain | 1.0000 |
| 16:69341179:GT:G | acceptor_gain | 1.0000 |
| 16:69341179:GTA:G | acceptor_gain | 1.0000 |
| 16:69341179:GTAT:G | acceptor_gain | 1.0000 |
| 16:69341179:GTATA:G | acceptor_gain | 1.0000 |
| 16:69341319:TGGTG:T | donor_loss | 1.0000 |
| 16:69341321:G:GC | donor_loss | 1.0000 |
| 16:69341322:TGA:T | donor_loss | 1.0000 |
| 16:69341323:G:GG | donor_loss | 1.0000 |
AlphaMissense
1170 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:69340250:G:A | G67E | 1.000 |
| 16:69340262:G:A | G71E | 1.000 |
| 16:69341187:T:A | V97D | 1.000 |
| 16:69341189:T:A | W98R | 1.000 |
| 16:69341189:T:C | W98R | 1.000 |
| 16:69341240:A:G | K115E | 1.000 |
| 16:69341242:A:C | K115N | 1.000 |
| 16:69341242:A:T | K115N | 1.000 |
| 16:69341537:T:C | F143S | 1.000 |
| 16:69341539:G:T | G144W | 1.000 |
| 16:69341540:G:A | G144E | 1.000 |
| 16:69341549:C:A | A147D | 1.000 |
| 16:69341608:G:C | A167P | 1.000 |
| 16:69339840:T:C | L4S | 0.999 |
| 16:69339840:T:G | L4W | 0.999 |
| 16:69340059:T:C | F37S | 0.999 |
| 16:69340062:G:C | R38P | 0.999 |
| 16:69340077:G:C | R43P | 0.999 |
| 16:69340249:G:A | G67R | 0.999 |
| 16:69340249:G:C | G67R | 0.999 |
| 16:69340249:G:T | G67W | 0.999 |
| 16:69340250:G:T | G67V | 0.999 |
| 16:69340261:G:A | G71R | 0.999 |
| 16:69340261:G:C | G71R | 0.999 |
| 16:69340262:G:T | G71V | 0.999 |
| 16:69340286:T:C | F79S | 0.999 |
| 16:69340304:C:A | A85D | 0.999 |
| 16:69340328:C:A | A93D | 0.999 |
| 16:69341185:A:C | K96N | 0.999 |
| 16:69341185:A:T | K96N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000102220 (16:69338897 G>A,T), RS1000451372 (16:69338637 C>A,G,T), RS1000788071 (16:69338162 A>T), RS1000840290 (16:69338374 A>G), RS1000952872 (16:69343156 T>C), RS1001995505 (16:69338111 C>T), RS1002114621 (16:69343243 T>C,G), RS1002576812 (16:69340424 A>G,T), RS1002583776 (16:69342922 C>T), RS1003185354 (16:69341930 A>G,T), RS1004303760 (16:69338182 C>A,T), RS1005080818 (16:69342310 G>T), RS1005544636 (16:69342565 G>A), RS1006032107 (16:69339798 C>A,G,T), RS1007074419 (16:69339846 A>C,G)
Disease associations
OMIM: gene MIM:619204 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_13 | Body mass index | 5.000000e-11 |
| GCST007006_16 | Logical memory (delayed recall) in normal cognition | 7.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004874 | memory performance |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| cobaltous chloride | decreases expression, decreases reaction | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| zinc chloride | decreases reaction, decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
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.