NSA2
gene geneOn this page
Also known as HUSSY-29HCLG1FLJ94393TINP1
Summary
NSA2 (NSA2 ribosome biogenesis factor, HGNC:30728) is a protein-coding gene on chromosome 5q13.3, encoding Ribosome biogenesis protein NSA2 homolog (O95478). Involved in the biogenesis of the 60S ribosomal subunit. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified.
Source: NCBI Gene 10412 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 33 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014886
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30728 |
| Approved symbol | NSA2 |
| Name | NSA2 ribosome biogenesis factor |
| Location | 5q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HUSSY-29, HCLG1, FLJ94393, TINP1 |
| Ensembl gene | ENSG00000164346 |
| Ensembl biotype | protein_coding |
| OMIM | 612497 |
| Entrez | 10412 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000296802, ENST00000513356, ENST00000514918, ENST00000515524, ENST00000610426, ENST00000854645, ENST00000921903
RefSeq mRNA: 3 — MANE Select: NM_014886
NM_001271665, NM_001364506, NM_014886
CCDS: CCDS4025, CCDS75260
Canonical transcript exons
ENST00000610426 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001083715 | 74773868 | 74774060 |
| ENSE00001083716 | 74767249 | 74767363 |
| ENSE00003509721 | 74770631 | 74770810 |
| ENSE00003594877 | 74768931 | 74769118 |
| ENSE00003654377 | 74769214 | 74769364 |
| ENSE00003713421 | 74776604 | 74780113 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 99.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.5079 / max 2238.1394, expressed in 1804 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57068 | 55.9605 | 1804 |
| 57069 | 1.4463 | 770 |
| 57067 | 0.1012 | 4 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.21 | gold quality |
| parotid gland | UBERON:0001831 | 99.18 | gold quality |
| upper leg skin | UBERON:0004262 | 99.03 | gold quality |
| skin of hip | UBERON:0001554 | 98.96 | gold quality |
| hair follicle | UBERON:0002073 | 98.85 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.85 | gold quality |
| tendon | UBERON:0000043 | 98.83 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.80 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.73 | gold quality |
| parietal pleura | UBERON:0002400 | 98.72 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.61 | gold quality |
| left ovary | UBERON:0002119 | 98.60 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.59 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.55 | gold quality |
| type B pancreatic cell | CL:0000169 | 98.54 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.51 | gold quality |
| ovary | UBERON:0000992 | 98.47 | gold quality |
| pleura | UBERON:0000977 | 98.45 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.42 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.39 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.38 | gold quality |
| nasopharynx | UBERON:0001728 | 98.36 | gold quality |
| caput epididymis | UBERON:0004358 | 98.33 | gold quality |
| cortical plate | UBERON:0005343 | 98.33 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.29 | gold quality |
| biceps brachii | UBERON:0001507 | 98.27 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.27 | gold quality |
| lymph node | UBERON:0000029 | 98.25 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.25 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.25 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting NSA2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-1273H-3P | 99.29 | 67.55 | 980 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-1912-5P | 97.94 | 67.98 | 832 |
| HSA-MIR-3650 | 97.88 | 64.89 | 693 |
| HSA-MIR-6502-3P | 97.86 | 65.43 | 569 |
| HSA-MIR-3654 | 96.43 | 66.55 | 646 |
| HSA-MIR-7704 | 95.30 | 62.35 | 115 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- The yeast ortholog, Nsa2, is a pre-ribosomal factor that is essential for biogenesis of the large ribosomal subunit. (PMID:16861225)
- these results demonstrated that NSA2 is a nucleolar protein involved in cell proliferation and cell cycle regulation. (PMID:19932687)
- Data suggest that circulating NSA2 is elevated in diabetic nephropathy patients with albuminuria, and that renal and circulating NSA2 levels are increased in hyperglycemia in experimental models of diabetes. (PMID:22095236)
- NSA2, which increases in diabetic nephropathy, may be involved in the actions of TGFbeta1 and contribute to the development of diabetic nephropathy. (PMID:23220173)
- TINP1 promotes cell proliferation and significantly reduces p53 and p21 expression. (PMID:23912275)
- Findings indicate a function of Nop-7-associated 2 (NSA2) in the regulation of ribosome biogenesis. (PMID:30243719)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nsa2 | ENSDARG00000007708 |
| mus_musculus | Nsa2 | ENSMUSG00000060739 |
| rattus_norvegicus | Nsa2 | ENSRNOG00000016530 |
| drosophila_melanogaster | Ip259 | FBGN0025366 |
| caenorhabditis_elegans | W09C5.1 | WBGENE00012351 |
Protein
Protein identifiers
Ribosome biogenesis protein NSA2 homolog — O95478 (reviewed: O95478)
Alternative names: Hairy cell leukemia protein 1, TGF-beta-inducible nuclear protein 1
All UniProt accessions (4): A0A0A0MQZ6, O95478, H0YAI9, Q5J7U2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles.
Subunit / interactions. Component of the pre-66S ribosomal particle.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the eukaryotic ribosomal protein eS8 family. Ribosome biogenesis protein NSA2 subfamily.
RefSeq proteins (3): NP_001258594, NP_001351435, NP_055701* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022309 | Ribosomal_Se8/biogenesis_NSA2 | Family |
| IPR039411 | NSA2_fam | Family |
Pfam: PF01201
UniProt features (7 total): chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, modified residue 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
28 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL7 | ELECTRON MICROSCOPY | 2.55 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FL6 | ELECTRON MICROSCOPY | 2.62 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FL9 | ELECTRON MICROSCOPY | 2.75 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8RL2 | ELECTRON MICROSCOPY | 2.84 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8FL0 | ELECTRON MICROSCOPY | 2.91 |
| 8IDY | ELECTRON MICROSCOPY | 3 |
| 8INF | ELECTRON MICROSCOPY | 3 |
| 8FKZ | ELECTRON MICROSCOPY | 3.04 |
| 9QIW | ELECTRON MICROSCOPY | 3.04 |
| 8INE | ELECTRON MICROSCOPY | 3.2 |
| 8INK | ELECTRON MICROSCOPY | 3.2 |
| 8IPD | ELECTRON MICROSCOPY | 3.2 |
| 8IPY | ELECTRON MICROSCOPY | 3.2 |
| 8IE3 | ELECTRON MICROSCOPY | 3.3 |
| 8IR1 | ELECTRON MICROSCOPY | 3.3 |
| 8IR3 | ELECTRON MICROSCOPY | 3.5 |
| 8IPX | ELECTRON MICROSCOPY | 4.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95478-F1 | 87.85 | 0.72 |
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 (2): 81, 80
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 178 (showing top):
GOBP_RIBOSOME_BIOGENESIS, MODULE_151, PUJANA_CHEK2_PCC_NETWORK, GOBP_MATURATION_OF_LSU_RRNA, GNF2_FBL, SCHLOSSER_SERUM_RESPONSE_DN, GNF2_ST13, GOBP_MATURATION_OF_5_8S_RRNA, BURTON_ADIPOGENESIS_8, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, MODULE_114, GOCC_PRERIBOSOME, GOCC_PRERIBOSOME_LARGE_SUBUNIT_PRECURSOR, GOCC_NUCLEOLUS
GO Biological Process (5): maturation of 5.8S rRNA (GO:0000460), maturation of LSU-rRNA (GO:0000470), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254), ribosomal large subunit biogenesis (GO:0042273)
GO Molecular Function (1): RNA binding (GO:0003723)
GO Cellular Component (5): nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687), nucleus (GO:0005634), preribosome (GO:0030684), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| rRNA processing | 2 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| ribosomal large subunit biogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| ribonucleoprotein complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NSA2 | MRTO4 | Q9UKD2 | 928 |
| NSA2 | RSL24D1 | Q9UHA3 | 904 |
| NSA2 | GNL2 | Q13823 | 904 |
| NSA2 | RPF2 | Q9H7B2 | 900 |
| NSA2 | GTPBP4 | Q9BZE4 | 892 |
| NSA2 | NMD3 | Q96D46 | 840 |
| NSA2 | NUPR1 | O60356 | 828 |
| NSA2 | WDR74 | Q6RFH5 | 774 |
| NSA2 | WDR12 | Q9GZL7 | 770 |
| NSA2 | MDN1 | Q9NU22 | 769 |
| NSA2 | NIP7 | Q9Y221 | 744 |
| NSA2 | PAK1IP1 | Q9NWT1 | 744 |
| NSA2 | NOP53 | Q9NZM5 | 719 |
| NSA2 | LSG1 | Q9H089 | 706 |
| NSA2 | NOP2 | P46087 | 691 |
IntAct
160 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SART3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RBM34 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NSA2 | GNL2 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | 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 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP6V1B2 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.530 |
| SART3 | NSA2 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| NHSL3 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (301): NSA2 (Affinity Capture-MS), NSA2 (Affinity Capture-MS), NSA2 (Affinity Capture-MS), NSA2 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), NPM1 (Affinity Capture-MS), RRS1 (Affinity Capture-MS), PTCD3 (Affinity Capture-MS), PABPC4 (Affinity Capture-MS), MAGEA9B (Affinity Capture-MS), GNL2 (Affinity Capture-MS), GTPBP4 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), MRTO4 (Affinity Capture-MS)
ESM2 similar proteins: A9L994, B2XWK3, D0VWQ3, G1SKF7, G1TFE0, G1U7L1, O95478, P02412, P12001, P17702, P21533, P35980, P40590, P41098, P41105, P46779, P47911, P49205, P69090, P69091, Q02878, Q07020, Q08200, Q27S52, Q2MIA2, Q2MII9, Q2YGT9, Q3SX11, Q3T0L7, Q42351, Q4R5H8, Q4VZN5, Q58DQ3, Q5E973, Q6B860, Q6P1L8, Q6QMZ4, Q70Y05, Q7ZV96, Q7ZWJ7
Diamond homologs: A1CJS8, A1D7P0, A2BK08, A2STM4, A3CSQ2, A3LQ06, A5DCN7, A5DZE1, A6R3Q6, A6S4J2, A6ZR80, A7TIZ1, A8AAJ7, C5A4I6, O28130, O95478, P0CQ60, P0CQ61, P0CU36, P40078, P54055, P61301, Q0UV95, Q0W1L5, Q12UA1, Q1DQ27, Q3SX11, Q465V4, Q4JAP5, Q4P3S7, Q4WX36, Q54GN8, Q5A2Y7, Q5B954, Q6BU14, Q6C6D1, Q6CNC5, Q6FN72, Q6L0D3, Q75CG9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 180 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 | 17 | 20.2× | 8e-16 |
| Viral mRNA Translation | 17 | 20.2× | 8e-16 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 17 | 19.9× | 8e-16 |
| Selenocysteine synthesis | 17 | 19.1× | 1e-15 |
| Eukaryotic Translation Termination | 17 | 19.1× | 1e-15 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 17 | 18.7× | 1e-15 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 17 | 18.7× | 1e-15 |
| Formation of a pool of free 40S subunits | 17 | 17.8× | 2e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 8 | 21.6× | 5e-07 |
| cytoplasmic translation | 18 | 20.3× | 5e-16 |
| negative regulation of viral genome replication | 7 | 16.0× | 3e-05 |
| rRNA processing | 17 | 14.7× | 6e-13 |
| translation | 19 | 11.9× | 6e-13 |
| ribosomal small subunit biogenesis | 8 | 11.1× | 7e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 8.9× | 4e-03 |
| RNA processing | 6 | 8.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1147 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:74768921:A:AG | acceptor_gain | 1.0000 |
| 5:74768922:T:G | acceptor_gain | 1.0000 |
| 5:74768924:A:AG | acceptor_gain | 1.0000 |
| 5:74768925:T:G | acceptor_gain | 1.0000 |
| 5:74768927:A:AG | acceptor_gain | 1.0000 |
| 5:74768928:T:G | acceptor_gain | 1.0000 |
| 5:74768929:A:AG | acceptor_gain | 1.0000 |
| 5:74768930:G:GT | acceptor_gain | 1.0000 |
| 5:74768930:GC:G | acceptor_gain | 1.0000 |
| 5:74768930:GCC:G | acceptor_gain | 1.0000 |
| 5:74768930:GCCA:G | acceptor_gain | 1.0000 |
| 5:74768930:GCCAC:G | acceptor_gain | 1.0000 |
| 5:74769066:GC:G | donor_gain | 1.0000 |
| 5:74769114:AAGAC:A | donor_gain | 1.0000 |
| 5:74769115:AGAC:A | donor_gain | 1.0000 |
| 5:74769116:GAC:G | donor_gain | 1.0000 |
| 5:74769116:GACG:G | donor_gain | 1.0000 |
| 5:74769117:AC:A | donor_gain | 1.0000 |
| 5:74769117:ACGT:A | donor_loss | 1.0000 |
| 5:74769119:G:GG | donor_gain | 1.0000 |
| 5:74769208:T:TA | acceptor_gain | 1.0000 |
| 5:74769209:G:A | acceptor_gain | 1.0000 |
| 5:74769211:TAGT:T | acceptor_loss | 1.0000 |
| 5:74769212:A:AG | acceptor_gain | 1.0000 |
| 5:74769213:G:GA | acceptor_gain | 1.0000 |
| 5:74769213:GT:G | acceptor_gain | 1.0000 |
| 5:74769213:GTA:G | acceptor_gain | 1.0000 |
| 5:74769213:GTAT:G | acceptor_gain | 1.0000 |
| 5:74769213:GTATC:G | acceptor_gain | 1.0000 |
| 5:74769318:C:G | donor_gain | 1.0000 |
AlphaMissense
1693 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:74770637:T:A | W117R | 1.000 |
| 5:74770637:T:C | W117R | 1.000 |
| 5:74770639:G:C | W117C | 1.000 |
| 5:74770639:G:T | W117C | 1.000 |
| 5:74770724:T:A | W146R | 1.000 |
| 5:74770724:T:C | W146R | 1.000 |
| 5:74770732:A:C | R148S | 1.000 |
| 5:74770732:A:T | R148S | 1.000 |
| 5:74770750:C:G | C154W | 1.000 |
| 5:74770766:T:C | F160L | 1.000 |
| 5:74770768:T:A | F160L | 1.000 |
| 5:74770768:T:G | F160L | 1.000 |
| 5:74770773:G:C | R162T | 1.000 |
| 5:74770774:A:C | R162S | 1.000 |
| 5:74770774:A:T | R162S | 1.000 |
| 5:74770803:G:C | R172T | 1.000 |
| 5:74770803:G:T | R172M | 1.000 |
| 5:74770804:G:C | R172S | 1.000 |
| 5:74770804:G:T | R172S | 1.000 |
| 5:74773893:T:A | V183E | 1.000 |
| 5:74773908:T:C | L188P | 1.000 |
| 5:74773951:T:A | N202K | 1.000 |
| 5:74773951:T:G | N202K | 1.000 |
| 5:74773979:G:C | G212R | 1.000 |
| 5:74773994:G:C | G217R | 1.000 |
| 5:74774001:T:A | V219D | 1.000 |
| 5:74774027:G:C | G228R | 1.000 |
| 5:74774057:T:A | W238R | 1.000 |
| 5:74774057:T:C | W238R | 1.000 |
| 5:74776613:C:A | A242D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000131685 (5:74776343 C>G,T), RS1000271888 (5:74770026 T>G), RS1000289844 (5:74770500 G>A), RS1000466285 (5:74776662 A>C), RS1000881640 (5:74779683 T>C), RS1001308169 (5:74776768 C>G), RS1001505663 (5:74779481 A>G), RS1001639739 (5:74777202 T>A), RS1002176320 (5:74776688 A>C,T), RS1002290871 (5:74778291 T>G), RS1002306825 (5:74769611 C>G,T), RS1002435323 (5:74772734 T>C), RS1002932186 (5:74778441 C>T), RS1002968590 (5:74775605 A>G), RS1003020113 (5:74772354 C>T)
Disease associations
OMIM: gene MIM:612497 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| dicrotophos | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nivalenol | increases expression | 1 |
| chloropicrin | affects expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Aflatoxin B1 | affects cotreatment, decreases expression | 1 |
| Gold Compounds | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| beta-Naphthoflavone | affects cotreatment, decreases expression, increases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.