YAF2
gene geneOn this page
Summary
YAF2 (YY1 associated factor 2, HGNC:17363) is a protein-coding gene on chromosome 12q12, encoding YY1-associated factor 2 (Q8IY57). Binds to MYC and inhibits MYC-mediated transactivation.
This gene encodes a zinc finger containing protein that functions in the regulation of transcription. This protein was identified as an interacting partner of transcriptional repressor protein Yy1, and also interacts with other transcriptional regulators, including Myc and Polycomb. This protein can promote proteolysis of Yy1. Multiple alternatively spliced transcript variants have been found.
Source: NCBI Gene 10138 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 31 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_005748
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17363 |
| Approved symbol | YAF2 |
| Name | YY1 associated factor 2 |
| Location | 12q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000015153 |
| Ensembl biotype | protein_coding |
| OMIM | 607534 |
| Entrez | 10138 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 7 nonsense_mediated_decay, 6 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000327791, ENST00000380790, ENST00000534854, ENST00000541702, ENST00000546726, ENST00000546782, ENST00000546972, ENST00000547254, ENST00000547351, ENST00000547622, ENST00000547724, ENST00000548661, ENST00000548917, ENST00000550315, ENST00000551268, ENST00000551528, ENST00000552109, ENST00000552928, ENST00000555248, ENST00000880607
RefSeq mRNA: 5 — MANE Select: NM_005748
NM_001190977, NM_001190979, NM_001190980, NM_001320080, NM_005748
CCDS: CCDS31775, CCDS53778, CCDS53779, CCDS53780
Canonical transcript exons
ENST00000534854 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001328312 | 42157104 | 42160826 |
| ENSE00003483672 | 42238155 | 42238248 |
| ENSE00003524511 | 42237599 | 42237724 |
| ENSE00003572403 | 42161613 | 42161765 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 92.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.2914 / max 265.9175, expressed in 1793 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130481 | 9.4437 | 1745 |
| 130483 | 5.1806 | 1621 |
| 130482 | 0.8561 | 589 |
| 130480 | 0.4595 | 201 |
| 130479 | 0.3515 | 171 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right atrium auricular region | UBERON:0006631 | 92.61 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.49 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.26 | gold quality |
| muscle of leg | UBERON:0001383 | 91.21 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.80 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.29 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.22 | gold quality |
| ventricular zone | UBERON:0003053 | 90.19 | gold quality |
| sural nerve | UBERON:0015488 | 89.47 | gold quality |
| cortical plate | UBERON:0005343 | 89.35 | gold quality |
| cardiac atrium | UBERON:0002081 | 89.29 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.23 | gold quality |
| heart | UBERON:0000948 | 89.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.62 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.24 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.04 | gold quality |
| monocyte | CL:0000576 | 87.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.75 | gold quality |
| tibial artery | UBERON:0007610 | 87.48 | gold quality |
| popliteal artery | UBERON:0002250 | 87.47 | gold quality |
| mononuclear cell | CL:0000842 | 87.36 | gold quality |
| leukocyte | CL:0000738 | 87.31 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 87.31 | gold quality |
| endocervix | UBERON:0000458 | 86.79 | gold quality |
| aorta | UBERON:0000947 | 86.57 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.24 | gold quality |
| thyroid gland | UBERON:0002046 | 86.04 | gold quality |
| ectocervix | UBERON:0012249 | 85.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 85.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
138 targeting YAF2, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
Literature-anchored findings (GeneRIF, showing 5)
- YEAF1/RYBP and YAF-2 are functionally distinct members of a cofactor family for the YY1 and E4TF1/hGABP transcription factors. (PMID:11953439)
- These findings uncovered an apoptotic signaling cascade linking YAF2, PDCD5, and TP53 during genotoxic stress responses. (PMID:25603536)
- LINC00341 interacts with miR-141 to suppress its functional binding to the 3’-untranslated region of YAF2 messenger RNA whereby supporting chondrocyte survival and preventing osteoarthritis progression. (PMID:30672021)
- miR-34b inhibits the migration/invasion and promotes apoptosis of non-small-cell lung cancer cells by YAF2. (PMID:30915747)
- YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner. (PMID:33784512)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | yaf2 | ENSDARG00000015966 |
| mus_musculus | Yaf2 | ENSMUSG00000022634 |
| rattus_norvegicus | Yaf2 | ENSRNOG00000004773 |
| drosophila_melanogaster | RYBP | FBGN0034763 |
| caenorhabditis_elegans | WBGENE00016937 |
Paralogs (1): RYBP (ENSG00000163602)
Protein
Protein identifiers
YY1-associated factor 2 — Q8IY57 (reviewed: Q8IY57)
All UniProt accessions (8): Q8IY57, A0A0B4J255, F8VRE5, F8VZR2, F8W0B9, G3V1X5, G3V212, G3V219
UniProt curated annotations — full annotation on UniProt →
Function. Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates ‘Lys-9’ of histone H3, suggesting that it is involved in chromatin-remodeling.
Subunit / interactions. Interacts with MYC, MYCN, RNF2/RING1B and YY1. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2.
Subcellular location. Nucleus.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IY57-1 | 1 | yes |
| Q8IY57-5 | 2 | |
| Q8IY57-3 | 3 | |
| Q8IY57-4 | 4 |
RefSeq proteins (5): NP_001177906, NP_001177908, NP_001177909, NP_001307009, NP_005739* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001876 | Znf_RanBP2 | Domain |
| IPR033774 | YAF2_RYBP | Conserved_site |
| IPR036443 | Znf_RanBP2_sf | Homologous_superfamily |
| IPR039958 | RYBP/YAF2 | Family |
Pfam: PF00641, PF17219
UniProt features (18 total): compositionally biased region 5, splice variant 4, region of interest 3, strand 2, chain 1, zinc finger region 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2D9G | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IY57-F1 | 68.38 | 0.22 |
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 (1): 167
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
| R-HSA-8953750 | Transcriptional Regulation by E2F6 |
MSigDB gene sets: 205 (showing top):
BENPORATH_ES_WITH_H3K27ME3, MORF_MSH3, XU_GH1_AUTOCRINE_TARGETS_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_BRCA1, MORF_ATRX, chr12q12, BROWNE_HCMV_INFECTION_16HR_UP, ATGCAGT_MIR217, PUJANA_CHEK2_PCC_NETWORK, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CAGCAGG_MIR370, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN
GO Biological Process (3): regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (7): DNA binding (GO:0003677), transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by RUNX1 | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription coregulator activity | 2 |
| cellular anatomical structure | 2 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| negative regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
584 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| YAF2 | RING1 | Q06587 | 998 |
| YAF2 | PCGF1 | Q9BSM1 | 995 |
| YAF2 | RNF2 | Q99496 | 992 |
| YAF2 | PCGF6 | Q9BYE7 | 977 |
| YAF2 | YY1 | P25490 | 971 |
| YAF2 | KDM2B | Q8NHM5 | 965 |
| YAF2 | RYBP | Q8N488 | 948 |
| YAF2 | PCGF3 | Q3KNV8 | 903 |
| YAF2 | PCGF2 | P35227 | 897 |
| YAF2 | CBX2 | Q14781 | 883 |
| YAF2 | GABPB1 | Q06547 | 864 |
| YAF2 | PCGF5 | Q86SE9 | 862 |
| YAF2 | SKP1 | P34991 | 823 |
| YAF2 | BMI1 | P35226 | 799 |
| YAF2 | R4GMX3 | R4GMX3 | 799 |
IntAct
88 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BMI1 | CBX4 | psi-mi:“MI:0914”(association) | 0.900 |
| YAF2 | RING1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| RING1 | YAF2 | psi-mi:“MI:0915”(physical association) | 0.880 |
| PCGF5 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.880 |
| PCGF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.840 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| RING1 | CBX4 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| DCAF7 | DIAPH1 | psi-mi:“MI:0914”(association) | 0.730 |
| L3MBTL2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| MAX | E2F6 | psi-mi:“MI:0914”(association) | 0.710 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| XAGE1A | YAF2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RNF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.660 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| YAF2 | YY1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| YY1 | YAF2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
BioGRID (384): YAF2 (Two-hybrid), YAF2 (Two-hybrid), SETBP1 (Two-hybrid), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), RING1 (Two-hybrid), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), YAF2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I6G705, A1L3K1, B5DFF2, B5DFI8, G3MWR8, O19048, O19137, O88508, P06730, P29338, P57721, P57722, P60335, Q12800, Q13888, Q15365, Q15366, Q16763, Q1LZ53, Q1RML1, Q28D01, Q2TBV5, Q4W5Z4, Q5E9A3, Q5FVR7, Q5NVP9, Q5TDH0, Q61990, Q6AYU1, Q6DH13, Q6P1K8, Q6ZRY4, Q7RTP6, Q8C6G8, Q8CCI5, Q8CJ19, Q8IY57, Q8N488, Q8VC52, Q921J4
Diamond homologs: Q5EG55, Q7SYB3, Q8CCI5, Q8IY57, Q8N488, Q99LW6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 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 |
|---|---|---|---|
| SUMOylation of DNA methylation proteins | 5 | 58.9× | 1e-06 |
| Transcriptional Regulation by E2F6 | 9 | 46.2× | 5e-11 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 8 | 42.2× | 1e-09 |
| SUMOylation of transcription cofactors | 5 | 21.3× | 1e-04 |
| SUMOylation of RNA binding proteins | 5 | 20.9× | 1e-04 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 8 | 20.6× | 4e-07 |
| SUMOylation of chromatin organization proteins | 6 | 16.7× | 8e-05 |
| Regulation of PTEN gene transcription | 5 | 15.7× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| anatomical structure morphogenesis | 7 | 12.8× | 2e-04 |
| chromatin remodeling | 13 | 12.5× | 1e-08 |
| transcription by RNA polymerase II | 7 | 6.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 22 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1048618 | GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 | Likely pathogenic |
SpliceAI
1895 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:42160827:C:CC | acceptor_gain | 1.0000 |
| 12:42161608:TTTAC:T | donor_loss | 1.0000 |
| 12:42161609:TTA:T | donor_loss | 1.0000 |
| 12:42161610:TA:T | donor_loss | 1.0000 |
| 12:42161612:C:CA | donor_loss | 1.0000 |
| 12:42161761:GTTTC:G | acceptor_gain | 1.0000 |
| 12:42161763:TTC:T | acceptor_gain | 1.0000 |
| 12:42161764:TC:T | acceptor_gain | 1.0000 |
| 12:42161764:TCC:T | acceptor_loss | 1.0000 |
| 12:42161765:CCTG:C | acceptor_gain | 1.0000 |
| 12:42161766:C:CC | acceptor_gain | 1.0000 |
| 12:42161768:G:C | acceptor_gain | 1.0000 |
| 12:42161768:G:GC | acceptor_gain | 1.0000 |
| 12:42161770:G:C | acceptor_gain | 1.0000 |
| 12:42161770:G:GC | acceptor_gain | 1.0000 |
| 12:42161773:C:CT | acceptor_gain | 1.0000 |
| 12:42161774:A:AC | acceptor_gain | 1.0000 |
| 12:42161774:A:C | acceptor_gain | 1.0000 |
| 12:42161776:G:C | acceptor_gain | 1.0000 |
| 12:42161776:G:GC | acceptor_gain | 1.0000 |
| 12:42161777:T:C | acceptor_gain | 1.0000 |
| 12:42161777:T:TC | acceptor_gain | 1.0000 |
| 12:42210543:CTTA:C | donor_loss | 1.0000 |
| 12:42210544:TTACC:T | donor_loss | 1.0000 |
| 12:42210545:TA:T | donor_loss | 1.0000 |
| 12:42210546:ACCTT:A | donor_gain | 1.0000 |
| 12:42210547:CCTTC:C | donor_gain | 1.0000 |
| 12:42210550:T:A | donor_gain | 1.0000 |
| 12:42210685:C:CT | acceptor_gain | 1.0000 |
| 12:42238150:GTTAC:G | donor_loss | 1.0000 |
AlphaMissense
1182 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:42160742:A:C | F130L | 1.000 |
| 12:42160742:A:T | F130L | 1.000 |
| 12:42160743:A:G | F130S | 1.000 |
| 12:42160744:A:G | F130L | 1.000 |
| 12:42160752:A:C | I127S | 1.000 |
| 12:42160752:A:G | I127T | 1.000 |
| 12:42160752:A:T | I127N | 1.000 |
| 12:42160758:A:T | V125D | 1.000 |
| 12:42160764:A:G | L123P | 1.000 |
| 12:42160779:A:T | V118D | 1.000 |
| 12:42160818:A:G | L105S | 1.000 |
| 12:42161762:T:A | K52N | 1.000 |
| 12:42161762:T:G | K52N | 1.000 |
| 12:42161764:T:C | K52E | 1.000 |
| 12:42237602:G:A | T50I | 1.000 |
| 12:42237605:G:A | S49F | 1.000 |
| 12:42237605:G:T | S49Y | 1.000 |
| 12:42237608:G:A | T48I | 1.000 |
| 12:42237611:C:A | G47V | 1.000 |
| 12:42237611:C:T | G47D | 1.000 |
| 12:42237612:C:A | G47C | 1.000 |
| 12:42237612:C:G | G47R | 1.000 |
| 12:42237612:C:T | G47S | 1.000 |
| 12:42237613:C:A | K46N | 1.000 |
| 12:42237613:C:G | K46N | 1.000 |
| 12:42237614:T:A | K46M | 1.000 |
| 12:42237614:T:G | K46T | 1.000 |
| 12:42237615:T:C | K46E | 1.000 |
| 12:42237615:T:G | K46Q | 1.000 |
| 12:42237625:G:C | C42W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000032843 (12:42210093 C>G,T), RS1000126663 (12:42167864 C>T), RS1000183378 (12:42215894 C>A,G,T), RS1000186416 (12:42225198 C>T), RS1000187627 (12:42173856 T>C), RS1000192547 (12:42218471 ATTG>A), RS1000228968 (12:42198898 A>T), RS1000263244 (12:42161558 A>C), RS1000347459 (12:42224557 G>A,T), RS1000357006 (12:42180985 C>A,T), RS1000371485 (12:42180686 C>G,T), RS1000425295 (12:42180424 T>C), RS1000457366 (12:42232199 GT>G), RS1000496459 (12:42238974 G>A,T), RS1000552563 (12:42210363 T>G)
Disease associations
OMIM: gene MIM:607534 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_215 | Refractive error | 3.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6193827 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | increases methylation, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Acetaldehyde | increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Dietary Carbohydrates | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Ozone | decreases expression, increases abundance, affects cotreatment | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5548053 | Binding | PROTAC activity at CRBN/YAF in human K562 cells assessed as degradation of YAF protein expression at 1 to 10 uM incubated for 24 hrs by Western blotting analysis | Discovery and Characterization of a Novel Cereblon-Recruiting PRC1 Bridged PROTAC Degrader. — J Med Chem |
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.