YBX2
gene geneOn this page
Also known as MSY2CSDA3Contrin
Summary
YBX2 (Y-box binding protein 2, HGNC:17948) is a protein-coding gene on chromosome 17p13.1, encoding Y-box-binding protein 2 (Q9Y2T7). Major constituent of messenger ribonucleoprotein particles (mRNPs).
This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15.
Source: NCBI Gene 51087 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_015982
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17948 |
| Approved symbol | YBX2 |
| Name | Y-box binding protein 2 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MSY2, CSDA3, Contrin |
| Ensembl gene | ENSG00000006047 |
| Ensembl biotype | protein_coding |
| OMIM | 611447 |
| Entrez | 51087 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000007699, ENST00000570627, ENST00000570720, ENST00000571127, ENST00000571464, ENST00000571485, ENST00000571834, ENST00000859311, ENST00000859312
RefSeq mRNA: 1 — MANE Select: NM_015982
NM_015982
CCDS: CCDS11098
Canonical transcript exons
ENST00000007699 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002633728 | 7288263 | 7288643 |
| ENSE00002641114 | 7294230 | 7294639 |
| ENSE00003466058 | 7288749 | 7288838 |
| ENSE00003473240 | 7289530 | 7289725 |
| ENSE00003571520 | 7291093 | 7291182 |
| ENSE00003596794 | 7292026 | 7292059 |
| ENSE00003600771 | 7290251 | 7290535 |
| ENSE00003631852 | 7293475 | 7293538 |
| ENSE00003685471 | 7289968 | 7290071 |
Expression profiles
Bgee: expression breadth ubiquitous, 130 present calls, max score 99.68.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3649 / max 229.1512, expressed in 358 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164202 | 0.9180 | 339 |
| 164200 | 0.3061 | 90 |
| 164194 | 0.0469 | 11 |
| 164199 | 0.0365 | 8 |
| 164198 | 0.0341 | 8 |
| 164196 | 0.0084 | 3 |
| 164195 | 0.0080 | 2 |
| 164197 | 0.0069 | 2 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 99.68 | gold quality |
| left testis | UBERON:0004533 | 99.41 | gold quality |
| testis | UBERON:0000473 | 98.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.80 | gold quality |
| transverse colon | UBERON:0001157 | 85.93 | gold quality |
| duodenum | UBERON:0002114 | 85.90 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.09 | gold quality |
| medulla oblongata | UBERON:0001896 | 83.99 | gold quality |
| small intestine | UBERON:0002108 | 80.29 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 80.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.95 | gold quality |
| intestine | UBERON:0000160 | 77.60 | gold quality |
| colon | UBERON:0001155 | 77.43 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.18 | gold quality |
| rectum | UBERON:0001052 | 77.09 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 76.45 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 76.02 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 75.74 | gold quality |
| lower esophagus | UBERON:0013473 | 75.19 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 75.18 | gold quality |
| minor salivary gland | UBERON:0001830 | 74.84 | gold quality |
| gastrocnemius | UBERON:0001388 | 74.74 | gold quality |
| muscle tissue | UBERON:0002385 | 74.56 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 74.23 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 73.82 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 73.81 | gold quality |
| muscle of leg | UBERON:0001383 | 73.76 | gold quality |
| left uterine tube | UBERON:0001303 | 73.51 | gold quality |
| esophagus | UBERON:0001043 | 73.14 | gold quality |
| adipose tissue | UBERON:0001013 | 72.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.07 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| PRM1 |
Upstream regulators (CollecTRI, top): MYC, MYCN
miRNA regulators (miRDB)
73 targeting YBX2, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
Literature-anchored findings (GeneRIF, showing 11)
- provides first evidence showing dbpC highly expressed in human testicular seminoma and ovarian dysgerminomas, and in carcinomas in other tissues and that its expression in normal tissues is nearly restricted to germ cells and placental trophoblasts (PMID:16479255)
- transcriptional regulation of Contrin was investigated, and the promoter region between -272 and -253 relative to the transcription start site was shown to be critical for the manifestation of cell-type specific transcription (PMID:16624424)
- A significant association between gene alterations in the YBX2 gene and abnormal spermatogenesis in humans, including a potential role in altering protamine expression, and implicate YBX2 gene alterations as a potential cause of male factor infertility. (PMID:18339382)
- some polymorphisms of the MSY2 gene might be associated with impaired spermatogenesis and that the gene could also be involved in modifying the susceptibility to idiopathic spermatogenic impairment in humans (PMID:18372033)
- YBX2 has the important role of coordinating the storage of translationally repressed mRNAs in round spermatids by inhibiting translational activity and the degradation of transcripts via translation-dependent deadenylation. (PMID:26773323)
- Sequencing results showed that among the studied polymorphisms, frequency of TT genotype in rs222859 polymorphism was significantly higher in azoospermic patients compared to control group (P < 0.001). (PMID:26804374)
- LncRNA HOXA11-AS promotes OSCC progression by sponging miR-98-5p to upregulate YBX2 expression. (PMID:31731187)
- YBX2 and cancer testis antigen 45 contribute to stemness, chemoresistance and a high degree of malignancy in human endometrial cancer. (PMID:33602962)
- Circular CDC like kinase 1 suppresses cell apoptosis through miR-18b-5p/Y-box protein 2 axis in oral squamous cell carcinoma. (PMID:35156507)
- NSD2 activates the E2F transcription factor 1/Y-box binding protein 2 axis to promote the malignant development of oral squamous cell carcinoma. (PMID:35364436)
- YBX2 modulates mRNA stability via interaction with YTHDF2 in endometrial cancer cells. (PMID:37030331)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ybx2 | ENSMUSG00000018554 |
| rattus_norvegicus | Ybx2 | ENSRNOG00000017117 |
| drosophila_melanogaster | yps | FBGN0022959 |
| caenorhabditis_elegans | cey-2 | WBGENE00000473 |
| caenorhabditis_elegans | cey-3 | WBGENE00000474 |
| caenorhabditis_elegans | WBGENE00000475 |
Paralogs (4): YBX3 (ENSG00000060138), YBX1 (ENSG00000065978), LIN28A (ENSG00000131914), LIN28B (ENSG00000187772)
Protein
Protein identifiers
Y-box-binding protein 2 — Q9Y2T7 (reviewed: Q9Y2T7)
Alternative names: Contrin, DNA-binding protein C, Germ cell-specific Y-box-binding protein, MSY2 homolog
All UniProt accessions (3): Q9Y2T7, A0A384MDP4, I3L2D6
UniProt curated annotations — full annotation on UniProt →
Function. Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5’-UCCAUCA-3’ with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasmic storage, thereby linking transcription and mRNA storage/translational delay.
Subunit / interactions. Found in a mRNP complex with PABPC1 and YBX3. Found in a mRNP complex with ZAR1 and ZAR1L.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in oocytes and testicular germ cells in the stage of spermatogonia to spermatocyte. Also observed placental trophoblasts, as well as in vascular smooth muscle cells in the pulmonary artery, myocardium, and skeletal muscle. Undetectable in epithelial cells in respiratory, gastrointestinal, and urogenital tracts. Up-regulated in various carcinomas and germ cell tumors (at protein level).
Post-translational modifications. Phosphorylated during oocyte maturation and dephosphorylated following egg activation. Phosphorylated in vitro by a kinase activity associated with testicular mRNPs. Dephosphorylation leads to a decrease in its affinity to bind RNA in vitro.
RefSeq proteins (1): NP_057066* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002059 | CSP_DNA-bd | Domain |
| IPR011129 | CSD | Domain |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR019844 | CSD_CS | Conserved_site |
| IPR050181 | Cold_shock_domain | Family |
Pfam: PF00313
UniProt features (31 total): compositionally biased region 10, strand 7, region of interest 4, modified residue 2, sequence variant 2, turn 2, helix 2, chain 1, domain 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7F3K | X-RAY DIFFRACTION | 1.76 |
| 7F3L | X-RAY DIFFRACTION | 1.88 |
| 7F3J | X-RAY DIFFRACTION | 1.95 |
| 7F3I | X-RAY DIFFRACTION | 2.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2T7-F1 | 62.23 | 0.21 |
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): 65, 76
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 128 (showing top):
E2F_Q4, E2F_Q4_01, E2F4DP1_01, CMYB_01, AAGCCAT_MIR135A_MIR135B, GOBP_OOGENESIS, TGACCTY_ERR1_Q2, GOBP_MALE_GAMETE_GENERATION, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, E2F1DP1_01, E2F1DP2_01, AML_Q6
GO Biological Process (6): transcription by RNA polymerase II (GO:0006366), spermatogenesis (GO:0007283), translational attenuation (GO:0009386), regulation of gene expression (GO:0010468), oocyte development (GO:0048599), positive regulation of cold-induced thermogenesis (GO:0120162)
GO Molecular Function (3): nucleic acid binding (GO:0003676), DNA binding (GO:0003677), RNA binding (GO:0003723)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| DNA-templated transcription | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| regulation of translation | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| germ cell development | 1 |
| oocyte differentiation | 1 |
| positive regulation of multicellular organismal process | 1 |
| cold-induced thermogenesis | 1 |
| regulation of cold-induced thermogenesis | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1882 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| YBX2 | SOHLH1 | Q5JUK2 | 897 |
| YBX2 | NOBOX | O60393 | 880 |
| YBX2 | FIGLA | Q6QHK4 | 865 |
| YBX2 | LHX8 | Q68G74 | 845 |
| YBX2 | CPEB1 | Q9BZB8 | 606 |
| YBX2 | CSNK2A1 | P19138 | 548 |
| YBX2 | SYCP3 | Q8IZU3 | 530 |
| YBX2 | DAZL | Q92904 | 527 |
| YBX2 | SYMPK | Q92797 | 514 |
| YBX2 | DDX4 | Q9NQI0 | 493 |
| YBX2 | CSNK2A2 | P19784 | 491 |
| YBX2 | DICER1 | Q9UPY3 | 485 |
| YBX2 | PRM2 | P04554 | 479 |
| YBX2 | GDF9 | O60383 | 476 |
| YBX2 | TARBP2 | Q15633 | 474 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0915”(physical association) | 0.770 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| CD226 | MEN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| HIF1AN | ARID1A | psi-mi:“MI:0914”(association) | 0.350 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| PRDM5 | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| NIFK | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (311): YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), YBX2 (Affinity Capture-MS)
ESM2 similar proteins: A1L1K8, B5DE31, D5MCN2, O94432, O95817, P14199, P16989, P21573, P21574, P25567, P41073, P41824, P45441, P45978, P46553, P62960, P62961, P67808, P67809, Q00436, Q06066, Q09801, Q10193, Q10422, Q10475, Q21351, Q24629, Q28618, Q3TLH4, Q57UZ7, Q5JVS0, Q5UR41, Q5XJD3, Q62764, Q69Z08, Q6CVS3, Q6NRY1, Q6NYG6, Q6PB22, Q75A59
Diamond homologs: B5DE31, E0J1Q3, E0J500, E1WGN1, O30875, O54310, O65639, O67327, P0A355, P0A356, P0A357, P0A358, P0A361, P0A362, P0A363, P0A972, P0A973, P0A974, P0A975, P0A978, P0A979, P0A980, P0A981, P0A986, P0A987, P0A9X9, P0A9Y0, P0A9Y1, P0A9Y2, P0A9Y3, P0A9Y4, P0A9Y5, P0A9Y6, P0A9Y7, P0A9Y8, P0A9Y9, P0A9Z0, P0C0F1, P0CL01, P0DA48
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AMPK | “up-regulates quantity by stabilization” | YBX2 | phosphorylation |
| AKT2 | “up-regulates quantity by stabilization” | YBX2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 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 |
|---|---|---|---|
| Nonsense-Mediated Decay (NMD) | 5 | 21.2× | 4e-05 |
| SARS-CoV-2 modulates host translation machinery | 5 | 20.4× | 5e-05 |
| RNA Polymerase II Transcription Termination | 5 | 20.0× | 5e-05 |
| rRNA processing | 7 | 18.6× | 1e-06 |
| Peptide chain elongation | 8 | 18.5× | 5e-07 |
| Viral mRNA Translation | 8 | 18.5× | 5e-07 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 8 | 18.2× | 5e-07 |
| rRNA processing in the nucleus and cytosol | 6 | 17.6× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 6 | 86.4× | 1e-08 |
| chromosome condensation | 6 | 64.8× | 5e-08 |
| cytoplasmic translation | 8 | 19.0× | 1e-06 |
| rRNA processing | 6 | 10.9× | 1e-03 |
| nucleosome assembly | 6 | 10.8× | 1e-03 |
| translation | 8 | 10.5× | 8e-05 |
| RNA splicing | 6 | 6.8× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1648 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7288839:C:CC | acceptor_gain | 1.0000 |
| 17:7289722:AGGC:A | acceptor_gain | 1.0000 |
| 17:7289723:GGC:G | acceptor_gain | 1.0000 |
| 17:7289726:C:CC | acceptor_gain | 1.0000 |
| 17:7290070:CC:C | acceptor_gain | 1.0000 |
| 17:7290071:CC:C | acceptor_gain | 1.0000 |
| 17:7290071:CCTG:C | acceptor_loss | 1.0000 |
| 17:7290072:CTGG:C | acceptor_loss | 1.0000 |
| 17:7290073:T:C | acceptor_loss | 1.0000 |
| 17:7291099:T:A | donor_gain | 1.0000 |
| 17:7291103:T:TA | donor_gain | 1.0000 |
| 17:7288834:GAGGT:G | acceptor_gain | 0.9900 |
| 17:7288838:TC:T | acceptor_loss | 0.9900 |
| 17:7288839:CTAAA:C | acceptor_loss | 0.9900 |
| 17:7288840:T:C | acceptor_loss | 0.9900 |
| 17:7289524:CCTCA:C | donor_loss | 0.9900 |
| 17:7289525:CTCA:C | donor_loss | 0.9900 |
| 17:7289526:TCA:T | donor_loss | 0.9900 |
| 17:7289527:CA:C | donor_loss | 0.9900 |
| 17:7289529:C:T | donor_loss | 0.9900 |
| 17:7289721:AAGGC:A | acceptor_gain | 0.9900 |
| 17:7289724:GC:G | acceptor_gain | 0.9900 |
| 17:7289725:CC:C | acceptor_gain | 0.9900 |
| 17:7290067:GTGCC:G | acceptor_gain | 0.9900 |
| 17:7290068:TGCC:T | acceptor_gain | 0.9900 |
| 17:7290069:GCC:G | acceptor_gain | 0.9900 |
| 17:7290070:CCC:C | acceptor_gain | 0.9900 |
| 17:7290534:CC:C | acceptor_gain | 0.9900 |
| 17:7290534:CCCTG:C | acceptor_loss | 0.9900 |
| 17:7290535:CC:C | acceptor_gain | 0.9900 |
AlphaMissense
2289 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:7291114:A:C | F146L | 1.000 |
| 17:7291114:A:T | F146L | 1.000 |
| 17:7291115:A:G | F146S | 1.000 |
| 17:7291116:A:G | F146L | 1.000 |
| 17:7292035:A:C | F120L | 1.000 |
| 17:7292035:A:T | F120L | 1.000 |
| 17:7292036:A:C | F120C | 1.000 |
| 17:7292037:A:G | F120L | 1.000 |
| 17:7293483:G:C | F109L | 1.000 |
| 17:7293483:G:T | F109L | 1.000 |
| 17:7293484:A:C | F109C | 1.000 |
| 17:7293484:A:G | F109S | 1.000 |
| 17:7293485:A:G | F109L | 1.000 |
| 17:7293507:G:C | F101L | 1.000 |
| 17:7293507:G:T | F101L | 1.000 |
| 17:7293509:A:G | F101L | 1.000 |
| 17:7293510:C:A | W100C | 1.000 |
| 17:7293510:C:G | W100C | 1.000 |
| 17:7293512:A:G | W100R | 1.000 |
| 17:7293512:A:T | W100R | 1.000 |
| 17:7291115:A:C | F146C | 0.999 |
| 17:7291116:A:T | F146I | 0.999 |
| 17:7292036:A:G | F120S | 0.999 |
| 17:7292042:T:A | D118V | 0.999 |
| 17:7292042:T:C | D118G | 0.999 |
| 17:7292042:T:G | D118A | 0.999 |
| 17:7292043:C:G | D118H | 0.999 |
| 17:7292059:C:A | R112S | 0.999 |
| 17:7292059:C:G | R112S | 0.999 |
| 17:7293475:C:A | R112M | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000835919 (17:7294747 G>T), RS1001013141 (17:7288156 G>A), RS1001076182 (17:7292105 C>T), RS1001130264 (17:7291782 G>A,C), RS1001289118 (17:7294579 G>T), RS1001450165 (17:7294995 ATCTGCAGCCTCGGT>A), RS1001655463 (17:7288684 G>A,T), RS1001748396 (17:7295082 C>T), RS1001802105 (17:7294898 C>T), RS1002083719 (17:7293461 G>A), RS1002135976 (17:7293128 G>A,C), RS1002238716 (17:7293175 G>A), RS1002807203 (17:7296523 C>T), RS1003912143 (17:7290030 C>T), RS1004999028 (17:7291417 G>A,C)
Disease associations
OMIM: gene MIM:611447 | 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 |
|---|---|---|
| Arsenic | increases methylation, increases abundance, increases expression | 2 |
| Nickel | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| pentanal | increases expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | 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.