RNF112
gene geneOn this page
Also known as BFP
Summary
RNF112 (ring finger protein 112, HGNC:12968) is a protein-coding gene on chromosome 17p11.2, encoding RING finger protein 112 (Q9ULX5). E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development.
This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17.
Source: NCBI Gene 7732 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_007148
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12968 |
| Approved symbol | RNF112 |
| Name | ring finger protein 112 |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BFP |
| Ensembl gene | ENSG00000128482 |
| Ensembl biotype | protein_coding |
| OMIM | 601237 |
| Entrez | 7732 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000461366, ENST00000574149, ENST00000574782, ENST00000575165, ENST00000580109, ENST00000908743, ENST00000908744
RefSeq mRNA: 1 — MANE Select: NM_007148
NM_007148
CCDS: CCDS58529
Canonical transcript exons
ENST00000461366 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001673294 | 19415286 | 19415339 |
| ENSE00001707377 | 19415518 | 19415592 |
| ENSE00001831819 | 19411232 | 19411462 |
| ENSE00001861552 | 19415038 | 19415207 |
| ENSE00001947999 | 19415705 | 19417276 |
| ENSE00001957989 | 19412938 | 19413144 |
| ENSE00002337627 | 19414586 | 19414660 |
| ENSE00002338221 | 19413577 | 19413681 |
| ENSE00002339271 | 19414449 | 19414505 |
| ENSE00002411226 | 19413280 | 19413411 |
| ENSE00002420866 | 19414095 | 19414145 |
| ENSE00002422186 | 19414770 | 19414887 |
| ENSE00003562119 | 19411630 | 19411670 |
| ENSE00003658263 | 19412498 | 19412783 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 98.02.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0612 / max 178.0678, expressed in 280 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159841 | 1.2519 | 220 |
| 159840 | 0.5006 | 132 |
| 159838 | 0.2281 | 85 |
| 159839 | 0.0806 | 43 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.02 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.99 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.99 | gold quality |
| cerebellum | UBERON:0002037 | 97.69 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.95 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.86 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.35 | gold quality |
| cortical plate | UBERON:0005343 | 92.13 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.02 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.77 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.46 | gold quality |
| frontal cortex | UBERON:0001870 | 90.02 | gold quality |
| putamen | UBERON:0001874 | 89.70 | gold quality |
| neocortex | UBERON:0001950 | 89.69 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.39 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.12 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.08 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.73 | gold quality |
| ventricular zone | UBERON:0003053 | 88.61 | gold quality |
| brain | UBERON:0000955 | 88.00 | gold quality |
| Ammon’s horn | UBERON:0001954 | 87.76 | gold quality |
| hypothalamus | UBERON:0001898 | 87.46 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.18 | gold quality |
| forebrain | UBERON:0001890 | 87.14 | gold quality |
| amygdala | UBERON:0001876 | 87.09 | gold quality |
| occipital lobe | UBERON:0002021 | 87.00 | gold quality |
| parietal lobe | UBERON:0001872 | 86.49 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 86.28 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 86.16 | gold quality |
| postcentral gyrus | UBERON:0002581 | 86.05 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.92 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| CDK5 | |
| CDKN1B | |
| IL12A |
Upstream regulators (CollecTRI, top): RAI1
miRNA regulators (miRDB)
38 targeting RNF112, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-4696 | 99.48 | 67.48 | 1040 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-10A-5P | 98.89 | 69.85 | 712 |
| HSA-MIR-10B-5P | 98.89 | 69.86 | 711 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-326 | 98.25 | 66.44 | 1565 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4438 | 97.96 | 63.70 | 947 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
Literature-anchored findings (GeneRIF, showing 3)
- Plzf was identified as a specific interacting protein of Znf179; the region containing the first two zinc fingers is critical for its interaction with Znf179. Cellular localization of Znf179 changed from cytoplasm to nucleus when Plzf was co-expressed. (PMID:24359566)
- Znf179 can reprogram glioblastoma multiforme cells into a more-differentiated phenotype and prevent the progression of gliomas to a more-malignant state through p53-mediated cell-cycle signaling pathways. (PMID:28684796)
- RNF112-mediated FOXM1 ubiquitination suppresses the proliferation and invasion of gastric cancer. (PMID:37288663)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rnf112 | ENSMUSG00000010086 |
| rattus_norvegicus | Rnf112 | ENSRNOG00000002364 |
| drosophila_melanogaster | atl | FBGN0039213 |
Paralogs (10): GBP3 (ENSG00000117226), GBP1 (ENSG00000117228), ATL2 (ENSG00000119787), GBP5 (ENSG00000154451), GBP2 (ENSG00000162645), GBP4 (ENSG00000162654), GBP6 (ENSG00000183347), ATL3 (ENSG00000184743), ATL1 (ENSG00000198513), GBP7 (ENSG00000213512)
Protein
Protein identifiers
RING finger protein 112 — Q9ULX5 (reviewed: Q9ULX5)
Alternative names: Brain finger protein, Zinc finger protein 179
All UniProt accessions (2): Q9ULX5, J3QRB8
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins. Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density.
Subunit / interactions. Self-associates. Interacts with SP1 in an oxidative stress-regulated manner. Interacts with SIGMAR1 in an oxidative stress-regulated manner. Interacts with ZBTB16 (via C2H2-type zinc finger domains 1 and 2).
Subcellular location. Membrane. Cytoplasm. Nucleus. Nuclear body. Nucleoplasm. Endosome. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle. Postsynaptic density. Perikaryon. Cell projection. Neuron projection.
Tissue specificity. Predominantly expressed in brain. Decreased expression in glioma brain tumors as compared to normal brains (at protein level).
Post-translational modifications. Auto-ubiquitinated.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULX5-1 | 1 | yes |
| Q9ULX5-2 | 2 |
RefSeq proteins (1): NP_009079* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR015894 | Guanylate-bd_N | Domain |
| IPR018957 | Znf_C3HC4_RING-type | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR030386 | G_GB1_RHD3_dom | Domain |
Pfam: PF00097, PF02263
UniProt features (8 total): transmembrane region 2, chain 1, domain 1, zinc finger region 1, region of interest 1, binding site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULX5-F1 | 70.04 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 318–319
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
SASAI_TARGETS_OF_CXCR6_AND_PTCH1_UP, SP3_Q3, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, BEIER_GLIOMA_STEM_CELL_DN, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GATA6_01, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
GO Biological Process (12): endoplasmic reticulum organization (GO:0007029), neuron differentiation (GO:0030182), response to hydroperoxide (GO:0033194), positive regulation of neuron differentiation (GO:0045666), positive regulation of glial cell differentiation (GO:0045687), protein homooligomerization (GO:0051260), regulation of cell cycle (GO:0051726), protein autoubiquitination (GO:0051865), G1 to G0 transition involved in cell differentiation (GO:0070315), embryonic brain development (GO:1990403), nervous system development (GO:0007399), protein ubiquitination (GO:0016567)
GO Molecular Function (8): GTPase activity (GO:0003924), GTP binding (GO:0005525), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (14): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endosome (GO:0005768), synaptic vesicle (GO:0008021), postsynaptic density (GO:0014069), membrane (GO:0016020), nuclear body (GO:0016604), neuron projection (GO:0043005), perikaryon (GO:0043204), cell body (GO:0044297), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| cell differentiation | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| generation of neurons | 1 |
| response to oxidative stress | 1 |
| response to oxygen-containing compound | 1 |
| neuron differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| glial cell differentiation | 1 |
| positive regulation of gliogenesis | 1 |
| regulation of glial cell differentiation | 1 |
| protein complex oligomerization | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| protein ubiquitination | 1 |
| G1 to G0 transition | 1 |
| embryonic organ development | 1 |
| system development | 1 |
| protein modification by small protein conjugation | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| asymmetric synapse | 1 |
Protein interactions and networks
STRING
1992 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF112 | STX2 | P32856 | 666 |
| RNF112 | STX1A | Q16623 | 595 |
| RNF112 | ST8SIA2 | Q92186 | 583 |
| RNF112 | PHGDH | O43175 | 570 |
| RNF112 | LLGL1 | Q15334 | 568 |
| RNF112 | PPP1R12C | Q9BZL4 | 505 |
| RNF112 | RHBDD3 | Q9Y3P4 | 448 |
| RNF112 | ARF1 | P10947 | 436 |
| RNF112 | CREM | Q03060 | 429 |
| RNF112 | CD226 | Q15762 | 428 |
| RNF112 | PMCH | P20382 | 419 |
| RNF112 | TOMM20 | Q15388 | 419 |
| RNF112 | EPN2 | O95208 | 415 |
| RNF112 | SEC61B | P38390 | 400 |
| RNF112 | H2BC21 | Q16778 | 398 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF112 | A2M | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | APP | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | DBH | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | DCTN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RNF112 | ELAVL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | GRN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | MECP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | NDUFV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | PRKN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | PHYH | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | PRPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | PSEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | UCHL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | OPTN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | PARK7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF112 | RNF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PEX26 | RNF112 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SOD1 | RNF112 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APP | RNF112 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNCA | RNF112 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | RNF112 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (778): RNF112 (Affinity Capture-MS), RNF112 (Affinity Capture-MS), RNF112 (Affinity Capture-Western), FOXM1 (Affinity Capture-Western), RNF112 (Affinity Capture-Western), RNF112 (Reconstituted Complex), PRRC2A (Affinity Capture-MS), RNF112 (Affinity Capture-MS), TCOF1 (Affinity Capture-MS), NAT10 (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), DDX41 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), GTPBP4 (Affinity Capture-MS), GNL3 (Affinity Capture-MS)
ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96
Diamond homologs: A0A3B3IT33, A0JN74, A4QPC6, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, A6NLU0, B1H278, B6VQ60, C9J1S8, D4ABM4, F6ZQ54, F8VTS6, I1YAP6, O00478, O00481, O15344, O70583, O75677, O75678, O75679, O76064, P0CI25, P0CI26, P18892, P19474, P82458, P86448, P86449, Q02398, Q03605, Q13410, Q14258, Q1L5Z9, Q1XHT8, Q2HJ46, Q2T9Z0, Q3TL54
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF112 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 23 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adult locomotory behavior | 6 | 78.5× | 6e-08 |
| negative regulation of neuron apoptotic process | 7 | 33.7× | 3e-07 |
| negative regulation of gene expression | 6 | 18.0× | 7e-05 |
| positive regulation of apoptotic process | 5 | 12.3× | 1e-03 |
| positive regulation of gene expression | 5 | 8.4× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1823 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:19411487:G:GT | donor_gain | 1.0000 |
| 17:19411487:G:T | donor_gain | 1.0000 |
| 17:19411492:A:T | donor_gain | 1.0000 |
| 17:19411628:A:G | acceptor_gain | 1.0000 |
| 17:19411667:GTTG:G | donor_gain | 1.0000 |
| 17:19411668:TTG:T | donor_gain | 1.0000 |
| 17:19411671:G:GA | donor_loss | 1.0000 |
| 17:19411671:G:GG | donor_gain | 1.0000 |
| 17:19411672:T:G | donor_loss | 1.0000 |
| 17:19412493:CACA:C | acceptor_loss | 1.0000 |
| 17:19412495:CAGGT:C | acceptor_loss | 1.0000 |
| 17:19412930:T:TA | acceptor_gain | 1.0000 |
| 17:19413099:G:GT | donor_gain | 1.0000 |
| 17:19413275:TGCAG:T | acceptor_loss | 1.0000 |
| 17:19413277:CA:C | acceptor_loss | 1.0000 |
| 17:19413278:A:AG | acceptor_gain | 1.0000 |
| 17:19413278:A:AT | acceptor_loss | 1.0000 |
| 17:19413278:AG:A | acceptor_gain | 1.0000 |
| 17:19413279:G:GC | acceptor_gain | 1.0000 |
| 17:19413279:GG:G | acceptor_gain | 1.0000 |
| 17:19413279:GGA:G | acceptor_gain | 1.0000 |
| 17:19413279:GGAGT:G | acceptor_gain | 1.0000 |
| 17:19413405:G:T | donor_gain | 1.0000 |
| 17:19413409:AAG:A | donor_loss | 1.0000 |
| 17:19413411:GGT:G | donor_loss | 1.0000 |
| 17:19413412:G:GC | donor_loss | 1.0000 |
| 17:19413413:T:A | donor_loss | 1.0000 |
| 17:19414086:T:A | acceptor_gain | 1.0000 |
| 17:19414092:CAG:C | acceptor_loss | 1.0000 |
| 17:19414093:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
4092 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:19413062:T:A | V169D | 0.996 |
| 17:19413587:T:C | F244S | 0.996 |
| 17:19415943:G:A | G555E | 0.996 |
| 17:19415979:G:A | G567D | 0.996 |
| 17:19416006:C:A | A576D | 0.996 |
| 17:19413670:A:C | S272R | 0.995 |
| 17:19413672:C:A | S272R | 0.995 |
| 17:19413672:C:G | S272R | 0.995 |
| 17:19415906:T:C | F543L | 0.995 |
| 17:19415908:C:A | F543L | 0.995 |
| 17:19415908:C:G | F543L | 0.995 |
| 17:19415985:G:A | G569D | 0.995 |
| 17:19416027:C:A | A583D | 0.995 |
| 17:19416039:C:A | A587D | 0.995 |
| 17:19415181:G:T | G424W | 0.994 |
| 17:19415182:G:A | G424E | 0.994 |
| 17:19415894:T:G | Y539D | 0.994 |
| 17:19415922:C:A | A548D | 0.994 |
| 17:19415957:G:C | G560R | 0.994 |
| 17:19415967:G:A | G563E | 0.994 |
| 17:19415982:C:A | A568D | 0.994 |
| 17:19415997:C:A | A573D | 0.994 |
| 17:19415942:G:A | G555R | 0.993 |
| 17:19415942:G:C | G555R | 0.993 |
| 17:19416030:C:A | A584D | 0.993 |
| 17:19416044:G:A | G589R | 0.993 |
| 17:19416044:G:C | G589R | 0.993 |
| 17:19416045:G:A | G589E | 0.993 |
| 17:19416066:T:A | V596D | 0.993 |
| 17:19412640:T:C | C80R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000072294 (17:19416876 T>C), RS1000143734 (17:19415473 G>C,T), RS1000529770 (17:19416614 A>G,T), RS1000612547 (17:19413253 T>C), RS1001299652 (17:19413686 TG>T,TGG), RS1001411805 (17:19411286 G>A,T), RS1002231180 (17:19417404 G>C), RS1002606519 (17:19416991 C>T), RS1002858033 (17:19416764 T>G), RS1003418593 (17:19414337 A>C,G), RS1003441007 (17:19411200 G>A), RS1003878636 (17:19414005 G>A), RS1003939733 (17:19415863 G>A,T), RS1003970753 (17:19416272 C>A,T), RS1004651370 (17:19416405 G>A)
Disease associations
OMIM: gene MIM:601237 | 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
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Silicon Dioxide | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| tebuconazole | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Citrulline | decreases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Testosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-4-phenylpyridinium | increases 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.