UBR3
gene geneOn this page
Also known as KIAA2024DKFZp434P117FLJ37422
Summary
UBR3 (ubiquitin protein ligase E3 component n-recognin 3, HGNC:30467) is a protein-coding gene on chromosome 2q31.1, encoding E3 ubiquitin-protein ligase UBR3 (Q6ZT12). E3 ubiquitin-protein ligase which is a component of the N-end rule pathway.
Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including sensory perception of smell; suckling behavior; and ubiquitin-dependent protein catabolic process via the N-end rule pathway. Predicted to act upstream of or within in utero embryonic development and olfactory behavior. Predicted to be located in membrane. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm.
Source: NCBI Gene 130507 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 188 total
- MANE Select transcript:
NM_172070
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30467 |
| Approved symbol | UBR3 |
| Name | ubiquitin protein ligase E3 component n-recognin 3 |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA2024, DKFZp434P117, FLJ37422 |
| Ensembl gene | ENSG00000144357 |
| Ensembl biotype | protein_coding |
| OMIM | 613831 |
| Entrez | 130507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 6 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000272793, ENST00000392632, ENST00000430321, ENST00000439681, ENST00000444475, ENST00000465630, ENST00000474426, ENST00000477461, ENST00000484596, ENST00000487689, ENST00000949146, ENST00000949147, ENST00000949148
RefSeq mRNA: 1 — MANE Select: NM_172070
NM_172070
CCDS: CCDS2238
Canonical transcript exons
ENST00000272793 — 39 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001384213 | 170006990 | 170007190 |
| ENSE00001384887 | 169958438 | 169958526 |
| ENSE00001385568 | 169986645 | 169986794 |
| ENSE00001561306 | 169827454 | 169828052 |
| ENSE00001648398 | 169927320 | 169927405 |
| ENSE00001670911 | 169928727 | 169928868 |
| ENSE00002205246 | 169905114 | 169905293 |
| ENSE00002205818 | 169906031 | 169906164 |
| ENSE00002209953 | 169872236 | 169872375 |
| ENSE00002219375 | 169875791 | 169875949 |
| ENSE00002219551 | 169932912 | 169933008 |
| ENSE00002237792 | 169946288 | 169946392 |
| ENSE00002237844 | 169949605 | 169950065 |
| ENSE00002245847 | 169896507 | 169896735 |
| ENSE00002256494 | 169925619 | 169925747 |
| ENSE00002256885 | 169895181 | 169895311 |
| ENSE00002260450 | 169878525 | 169878574 |
| ENSE00002266164 | 169947542 | 169947715 |
| ENSE00002267144 | 169877494 | 169877637 |
| ENSE00002271206 | 169923929 | 169923994 |
| ENSE00002271358 | 169942493 | 169942634 |
| ENSE00002273356 | 169914060 | 169914146 |
| ENSE00002273745 | 169926838 | 169926971 |
| ENSE00002280607 | 169926692 | 169926744 |
| ENSE00002288213 | 169891165 | 169891231 |
| ENSE00002308266 | 169924084 | 169924173 |
| ENSE00003489673 | 170079814 | 170080023 |
| ENSE00003495707 | 170061318 | 170061443 |
| ENSE00003504146 | 170055460 | 170055584 |
| ENSE00003522403 | 170015281 | 170015366 |
| ENSE00003532333 | 170040882 | 170040985 |
| ENSE00003561836 | 170080545 | 170080684 |
| ENSE00003586034 | 170001304 | 170001414 |
| ENSE00003613119 | 170029346 | 170029448 |
| ENSE00003621646 | 170008804 | 170008940 |
| ENSE00003636579 | 169994323 | 169994456 |
| ENSE00003640473 | 170061079 | 170061186 |
| ENSE00003646916 | 170081726 | 170084131 |
| ENSE00003651264 | 170073428 | 170073607 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 99.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.3052 / max 308.8067, expressed in 1815 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23583 | 23.9124 | 1814 |
| 23584 | 2.3969 | 1177 |
| 23582 | 0.9959 | 535 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vastus lateralis | UBERON:0001379 | 99.49 | gold quality |
| biceps brachii | UBERON:0001507 | 99.48 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.47 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.46 | gold quality |
| deltoid | UBERON:0001476 | 99.43 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.40 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.33 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.29 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.07 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.86 | gold quality |
| myocardium | UBERON:0002349 | 98.77 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.43 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.25 | gold quality |
| muscle tissue | UBERON:0002385 | 98.00 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 97.68 | gold quality |
| endothelial cell | CL:0000115 | 97.65 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.37 | gold quality |
| body of tongue | UBERON:0011876 | 97.37 | gold quality |
| muscle of leg | UBERON:0001383 | 97.27 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.10 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.98 | gold quality |
| visceral pleura | UBERON:0002401 | 96.74 | gold quality |
| parietal pleura | UBERON:0002400 | 96.69 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.66 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.57 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.56 | gold quality |
| corpus callosum | UBERON:0002336 | 96.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.53 | gold quality |
| tibia | UBERON:0000979 | 96.48 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
253 targeting UBR3, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
Literature-anchored findings (GeneRIF, showing 4)
- The human E3 ubiquitin ligase UBR3 has a major activity that polyubiquitylates APE1 at multiple lysine residues clustered on the N-terminal tail. (PMID:21933813)
- UBR3/6 regulate cardiomyocyte Nav 1.5 channel protein levels via the ubiquitin-proteasome pathway. (PMID:26059563)
- UBR3 promotes inflammation and apoptosis via DUSP1/p38 pathway in the nucleus pulposus cells of patients with intervertebral disc degeneration. (PMID:35332432)
- Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study. (PMID:37958966)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ubr3 | ENSDARG00000042508 |
| mus_musculus | Ubr3 | ENSMUSG00000044308 |
| rattus_norvegicus | Ubr3 | ENSRNOG00000008616 |
| drosophila_melanogaster | Ubr3 | FBGN0260970 |
| caenorhabditis_elegans | WBGENE00017373 |
Paralogs (2): UBR2 (ENSG00000024048), UBR1 (ENSG00000159459)
Protein
Protein identifiers
E3 ubiquitin-protein ligase UBR3 — Q6ZT12 (reviewed: Q6ZT12)
Alternative names: N-recognin-3, RING-type E3 ubiquitin transferase UBR3, Ubiquitin-protein ligase E3-alpha-3, Ubiquitin-protein ligase E3-alpha-III, Zinc finger protein 650
All UniProt accessions (5): Q6ZT12, F8WEB7, H0Y3K2, H7BZD8, H7C481
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May play a role in Shh signaling by mediating the ubiquitination of Kif7. May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A.
Subunit / interactions. Interacts with UBE2A and UBE2B.
Subcellular location. Membrane.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the E3 ubiquitin-protein ligase UBR1-like family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZT12-1 | 1 | yes |
| Q6ZT12-2 | 2 | |
| Q6ZT12-3 | 3 | |
| Q6ZT12-4 | 4 |
RefSeq proteins (1): NP_742067* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003126 | Znf_UBR | Domain |
| IPR039164 | UBR1-like | Family |
| IPR044046 | E3_ligase_UBR-like_C | Domain |
| IPR055194 | UBR1-like_WH | Domain |
Pfam: PF02207, PF18995, PF22960
UniProt features (21 total): splice variant 4, region of interest 4, transmembrane region 3, modified residue 3, compositionally biased region 2, zinc finger region 2, chain 1, coiled-coil region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZT12-F1 | 78.17 | 0.33 |
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 (3): 343, 344, 1199
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (11): in utero embryonic development (GO:0001701), suckling behavior (GO:0001967), ubiquitin-dependent protein catabolic process (GO:0006511), sensory perception of smell (GO:0007608), embryo development ending in birth or egg hatching (GO:0009792), protein ubiquitination (GO:0016567), olfactory behavior (GO:0042048), positive regulation of protein catabolic process (GO:0045732), ubiquitin-dependent protein catabolic process via the N-end rule pathway (GO:0071596), negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel (GO:1904878), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (3): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| chordate embryonic development | 1 |
| feeding behavior | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| sensory perception of chemical stimulus | 1 |
| embryo development | 1 |
| protein modification by small protein conjugation | 1 |
| chemosensory behavior | 1 |
| positive regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| calcium ion transmembrane transport via high voltage-gated calcium channel | 1 |
| regulation of calcium ion transmembrane transport via high voltage-gated calcium channel | 1 |
| negative regulation of calcium ion transmembrane transport | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1110 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBR3 | UBR7 | Q8N806 | 709 |
| UBR3 | UBR5 | O95071 | 622 |
| UBR3 | UBR4 | Q5T4S7 | 567 |
| UBR3 | FBXO11 | Q86XK2 | 554 |
| UBR3 | KBTBD12 | Q3ZCT8 | 444 |
| UBR3 | DIAPH1 | O60610 | 443 |
| UBR3 | ARHGAP4 | P98171 | 423 |
| UBR3 | KLHL33 | A6NCF5 | 419 |
| UBR3 | MAGEC2 | Q9UBF1 | 416 |
| UBR3 | ATE1 | O95260 | 414 |
| UBR3 | KLHL38 | Q2WGJ6 | 414 |
| UBR3 | ATMIN | O43313 | 413 |
| UBR3 | BTRC | Q9Y297 | 409 |
| UBR3 | NINL | Q9Y2I6 | 399 |
| UBR3 | UBE2B | P23567 | 397 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPANK1 | TTC19 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| LDLRAD4 | NEDD4 | psi-mi:“MI:0914”(association) | 0.690 |
| KIRREL1 | UBR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| LDLRAD4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| BMERB1 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN32 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA21 | IFIT3 | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA8 | IFIT3 | psi-mi:“MI:0914”(association) | 0.530 |
| FAHD1 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB6 | BAG3 | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA5 | IFNA13 | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA10 | ISG15 | psi-mi:“MI:0914”(association) | 0.530 |
| EFCAB11 | SFI1 | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf198 | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA8 | UBR3 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM219A | OBSL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CYB5D2 | ABLIM1 | psi-mi:“MI:0914”(association) | 0.530 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| DUSP28 | UBR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TP53AIP1 | UBR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT1 | UBR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GTSF1 | UBR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (144): UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS)
ESM2 similar proteins: A0JMD0, A1A535, A1ZAB5, A2AIV2, A8E7C5, A8PJX4, A8XAA9, B0W2S0, B3MIW0, B3NPV8, B4GAM1, B4JW99, B4KT50, B4LQ23, B4MY63, B4P6P7, D3YVL2, E9PXF8, F4HS99, F4HZK4, F4J5S1, F4JKH6, O60502, O75153, O88379, P34466, P69735, Q0IHW8, Q0VA04, Q15042, Q17N71, Q291J5, Q5PQS3, Q5SW19, Q5TYW4, Q5U430, Q69YN4, Q6NTN5, Q6ZT12, Q7PZD5
Diamond homologs: F1QJX5, O60152, Q5U430, Q6ZT12, Q9W3M3, F4KCC2, O13731, Q07963
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 177 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 |
|---|---|---|---|
| Regulation of IFNA/IFNB signaling | 7 | 25.0× | 2e-06 |
| TRAF6 mediated IRF7 activation | 7 | 21.7× | 4e-06 |
| Evasion by RSV of host interferon responses | 7 | 18.6× | 1e-05 |
| Interferon alpha/beta signaling | 10 | 12.4× | 2e-06 |
| SARS-CoV-2 activates/modulates innate and adaptive immune responses | 9 | 6.5× | 1e-03 |
| Factors involved in megakaryocyte development and platelet production | 9 | 4.9× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| B cell activation involved in immune response | 6 | 40.5× | 4e-06 |
| natural killer cell activation involved in immune response | 6 | 38.1× | 4e-06 |
| T cell activation involved in immune response | 6 | 27.0× | 3e-05 |
| response to exogenous dsRNA | 6 | 20.2× | 8e-05 |
| type I interferon-mediated signaling pathway | 7 | 15.4× | 8e-05 |
| humoral immune response | 7 | 12.6× | 2e-04 |
| cellular response to virus | 9 | 11.6× | 3e-05 |
| defense response to virus | 13 | 5.8× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
188 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 144 |
| Likely benign | 16 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6528 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:169828049:GCGG:G | donor_gain | 1.0000 |
| 2:169862550:A:AG | donor_gain | 1.0000 |
| 2:169872231:TACA:T | acceptor_loss | 1.0000 |
| 2:169872233:CA:C | acceptor_loss | 1.0000 |
| 2:169872234:A:AC | acceptor_loss | 1.0000 |
| 2:169872234:A:AG | acceptor_gain | 1.0000 |
| 2:169872234:AG:A | acceptor_gain | 1.0000 |
| 2:169872235:G:A | acceptor_loss | 1.0000 |
| 2:169872235:G:GA | acceptor_gain | 1.0000 |
| 2:169872235:GG:G | acceptor_gain | 1.0000 |
| 2:169872235:GGT:G | acceptor_gain | 1.0000 |
| 2:169872376:G:GA | donor_loss | 1.0000 |
| 2:169872377:T:A | donor_loss | 1.0000 |
| 2:169875785:TTTTA:T | acceptor_loss | 1.0000 |
| 2:169875786:TTTA:T | acceptor_loss | 1.0000 |
| 2:169875787:TTAGC:T | acceptor_loss | 1.0000 |
| 2:169875789:A:AG | acceptor_gain | 1.0000 |
| 2:169875789:AGCA:A | acceptor_loss | 1.0000 |
| 2:169875790:G:A | acceptor_loss | 1.0000 |
| 2:169875790:G:GC | acceptor_gain | 1.0000 |
| 2:169875790:GC:G | acceptor_gain | 1.0000 |
| 2:169875790:GCA:G | acceptor_gain | 1.0000 |
| 2:169875790:GCAGC:G | acceptor_gain | 1.0000 |
| 2:169875791:CAGCT:C | acceptor_loss | 1.0000 |
| 2:169875792:A:AG | acceptor_gain | 1.0000 |
| 2:169875792:AG:A | acceptor_loss | 1.0000 |
| 2:169875792:AGCT:A | acceptor_gain | 1.0000 |
| 2:169875793:G:GG | acceptor_gain | 1.0000 |
| 2:169875793:GC:G | acceptor_gain | 1.0000 |
| 2:169875793:GCT:G | acceptor_gain | 1.0000 |
AlphaMissense
12467 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:169827865:T:C | C120R | 1.000 |
| 2:169827866:G:A | C120Y | 1.000 |
| 2:169827867:C:G | C120W | 1.000 |
| 2:169827872:T:C | L122P | 1.000 |
| 2:169827875:T:A | V123D | 1.000 |
| 2:169827877:T:A | W124R | 1.000 |
| 2:169827877:T:C | W124R | 1.000 |
| 2:169827878:G:C | W124S | 1.000 |
| 2:169827879:G:C | W124C | 1.000 |
| 2:169827879:G:T | W124C | 1.000 |
| 2:169827889:T:C | F128L | 1.000 |
| 2:169827890:T:C | F128S | 1.000 |
| 2:169827890:T:G | F128C | 1.000 |
| 2:169827891:C:A | F128L | 1.000 |
| 2:169827891:C:G | F128L | 1.000 |
| 2:169827896:C:A | A130D | 1.000 |
| 2:169827902:G:C | R132P | 1.000 |
| 2:169827904:T:A | C133S | 1.000 |
| 2:169827904:T:C | C133R | 1.000 |
| 2:169827905:G:A | C133Y | 1.000 |
| 2:169827905:G:C | C133S | 1.000 |
| 2:169827906:C:G | C133W | 1.000 |
| 2:169827913:T:C | C136R | 1.000 |
| 2:169827914:G:A | C136Y | 1.000 |
| 2:169827914:G:T | C136F | 1.000 |
| 2:169827915:C:G | C136W | 1.000 |
| 2:169827938:T:C | L144P | 1.000 |
| 2:169827940:T:A | C145S | 1.000 |
| 2:169827940:T:C | C145R | 1.000 |
| 2:169827941:G:A | C145Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000008179 (2:169956388 G>A,T), RS1000009121 (2:170003172 A>G), RS1000012813 (2:169860784 A>G), RS1000036661 (2:170028214 CA>C), RS1000042077 (2:169973907 A>T), RS1000102163 (2:169874873 G>A,T), RS1000102498 (2:169946534 G>A,T), RS1000107313 (2:170009326 T>C), RS1000114448 (2:169906089 C>T), RS1000123283 (2:169988494 T>G), RS1000143006 (2:170055999 C>T), RS1000152274 (2:169857422 A>G), RS1000153996 (2:169902413 G>A), RS1000163916 (2:170017066 A>C), RS1000196949 (2:170016655 G>A)
Disease associations
OMIM: gene MIM:613831 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002828_11 | Urate levels in obese individuals | 2.000000e-06 |
| GCST003082_6 | Longitudinal change in brain amyloid plaque burden | 2.000000e-07 |
| GCST003830_10 | Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) | 6.000000e-07 |
| GCST009391_942 | Metabolite levels | 6.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0007646 | amyloid plaque accumulation rate |
| EFO:0005921 | FEV change measurement |
| EFO:0010402 | triacylglycerol 46:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | increases methylation, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 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.