ZNF106
gene geneOn this page
Also known as ZNF474SH3BP3
Summary
ZNF106 (zinc finger protein 106, HGNC:12886) is a protein-coding gene on chromosome 15q15.1, encoding Zinc finger protein 106 (Q9H2Y7). RNA-binding protein.
Enables RNA binding activity. Predicted to be involved in insulin receptor signaling pathway. Predicted to be located in nuclear speck and nucleolus. Predicted to be active in cytosol and membrane.
Source: NCBI Gene 64397 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 288 total
- MANE Select transcript:
NM_001366845
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12886 |
| Approved symbol | ZNF106 |
| Name | zinc finger protein 106 |
| Location | 15q15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF474, SH3BP3 |
| Ensembl gene | ENSG00000103994 |
| Ensembl biotype | protein_coding |
| OMIM | 603988 |
| Entrez | 64397 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000263805, ENST00000564754, ENST00000565380, ENST00000565500, ENST00000565611, ENST00000565660, ENST00000565948, ENST00000567041, ENST00000567772, ENST00000568906, ENST00000569648, ENST00000570078
RefSeq mRNA: 12 — MANE Select: NM_001366845
NM_001284306, NM_001284307, NM_001366844, NM_001366845, NM_001366846, NM_001381993, NM_001381994, NM_001381995, NM_001381996, NM_001381997, NM_001381998, NM_022473
CCDS: CCDS32208, CCDS61602, CCDS61603, CCDS91986
Canonical transcript exons
ENST00000564754 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000679046 | 42417805 | 42417951 |
| ENSE00000679055 | 42428018 | 42428134 |
| ENSE00000884128 | 42435384 | 42435518 |
| ENSE00000931129 | 42437232 | 42437377 |
| ENSE00000931130 | 42438612 | 42438667 |
| ENSE00000931132 | 42442073 | 42442414 |
| ENSE00000931135 | 42446589 | 42446658 |
| ENSE00001232049 | 42439033 | 42439813 |
| ENSE00001342840 | 42412823 | 42417360 |
| ENSE00002215322 | 42472236 | 42472321 |
| ENSE00002274798 | 42466053 | 42466114 |
| ENSE00002588520 | 42456958 | 42457158 |
| ENSE00002608885 | 42490980 | 42491141 |
| ENSE00003472556 | 42421061 | 42421132 |
| ENSE00003510480 | 42423998 | 42424060 |
| ENSE00003597018 | 42424834 | 42425025 |
| ENSE00003629939 | 42421917 | 42421988 |
| ENSE00003638668 | 42422501 | 42422620 |
| ENSE00003641459 | 42448072 | 42448705 |
| ENSE00003679571 | 42449771 | 42451954 |
| ENSE00003697191 | 42444202 | 42444262 |
| ENSE00003698266 | 42444827 | 42444981 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.2628 / max 1814.5796, expressed in 1796 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149563 | 15.0551 | 1776 |
| 149558 | 14.4245 | 889 |
| 149552 | 1.5073 | 664 |
| 149561 | 0.5777 | 263 |
| 207486 | 0.5541 | 244 |
| 149562 | 0.5209 | 281 |
| 149559 | 0.2415 | 94 |
| 149553 | 0.1286 | 37 |
| 149560 | 0.1271 | 34 |
| 149554 | 0.1260 | 37 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.47 | gold quality |
| diaphragm | UBERON:0001103 | 99.41 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.40 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.39 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.37 | gold quality |
| biceps brachii | UBERON:0001507 | 99.36 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.30 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.24 | gold quality |
| body of tongue | UBERON:0011876 | 99.24 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.11 | gold quality |
| deltoid | UBERON:0001476 | 99.11 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.04 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.90 | gold quality |
| triceps brachii | UBERON:0001509 | 98.89 | gold quality |
| myocardium | UBERON:0002349 | 98.88 | gold quality |
| muscle organ | UBERON:0001630 | 98.73 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 98.73 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.57 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.55 | gold quality |
| muscle of leg | UBERON:0001383 | 98.53 | gold quality |
| muscle tissue | UBERON:0002385 | 98.39 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.22 | gold quality |
| tongue | UBERON:0001723 | 97.59 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.17 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.11 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.00 | gold quality |
| vena cava | UBERON:0004087 | 96.79 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.50 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.46 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 96.16 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 485.78 |
| E-ANND-3 | yes | 19.12 |
| E-MTAB-7249 | no | 7502.78 |
| E-ENAD-20 | no | 1891.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
185 targeting ZNF106, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| 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-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 2)
- Study identified ZFP106 as a novel substrate for CBP-mediated acetylation, and showed that the fully disordered isolated ID3 in CREBBP transiently interacts with an IDR of ZFP106 in a fashion that both IDR regions are maintained. (PMID:28680062)
- Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis. (PMID:33427755)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf106a | ENSDARG00000016651 |
| danio_rerio | znf106b | ENSDARG00000091947 |
| mus_musculus | Zfp106 | ENSMUSG00000027288 |
| rattus_norvegicus | Zfp106 | ENSRNOG00000052583 |
Protein
Protein identifiers
Zinc finger protein 106 — Q9H2Y7 (reviewed: Q9H2Y7)
Alternative names: Zinc finger protein 474
All UniProt accessions (8): A0A0C4DGM5, Q9H2Y7, H3BNJ4, H3BNX5, H3BRD4, H3BS99, H3BSS6, U3KQH7
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein. Specifically binds to 5’-GGGGCC-3’ sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism.
Subunit / interactions. Interacts with KNOP1. Interacts with TARDBP and NUP107. Interacts (via N-terminus) with RBM39. Interacts with the SH3 domains of FYN and GRB2.
Subcellular location. Nucleus. Nucleolus. Nucleus speckle.
Post-translational modifications. Phosphorylated by FYN in vitro.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H2Y7-1 | 1 | yes |
| Q9H2Y7-2 | 2 |
RefSeq proteins (12): NP_001271235, NP_001271236, NP_001353773, NP_001353774, NP_001353775, NP_001368922, NP_001368923, NP_001368924, NP_001368925, NP_001368926, NP_001368927, NP_071918 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR042622 | Znf106 | Family |
Pfam: PF00400
UniProt features (120 total): cross-link 44, modified residue 22, compositionally biased region 21, region of interest 12, repeat 6, sequence conflict 6, sequence variant 4, splice variant 2, zinc finger region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2Y7-F1 | 44.82 | 0.11 |
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 (66): 1454, 1486, 1504, 1585, 1737, 1864, 6, 37, 422, 590, 641, 661, 859, 861, 864, 893, 937, 1021, 1025, 1026 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 230 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, HORIUCHI_WTAP_TARGETS_DN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, MARTINEZ_RB1_TARGETS_UP, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_INSULIN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, MODULE_256, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_HORMONE
GO Biological Process (1): insulin receptor signaling pathway (GO:0008286)
GO Molecular Function (4): RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleolus (GO:0005730), cytosol (GO:0005829), membrane (GO:0016020), nuclear speck (GO:0016607), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to insulin stimulus | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1314 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF106 | ZNF91 | Q05481 | 815 |
| ZNF106 | KNOP1 | Q1ED39 | 643 |
| ZNF106 | PURA | Q00577 | 588 |
| ZNF106 | ADARB2 | Q9NS39 | 574 |
| ZNF106 | ALYREF | Q86V81 | 562 |
| ZNF106 | TARDBP | Q13148 | 536 |
| ZNF106 | ZDHHC22 | Q8N966 | 513 |
| ZNF106 | C1orf159 | Q96HA4 | 507 |
| ZNF106 | DNHD1 | Q96M86 | 473 |
| ZNF106 | RANGAP1 | P46060 | 469 |
| ZNF106 | PTCD2 | Q8WV60 | 459 |
| ZNF106 | NUCLEOLIN | P19338 | 455 |
| ZNF106 | ZNHIT2 | Q9UHR6 | 455 |
| ZNF106 | PPFIA1 | Q13136 | 447 |
| ZNF106 | FRMD8 | Q9BZ67 | 447 |
| ZNF106 | TOPORS | Q9NS56 | 447 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| SMARCD1 | ARID1A | psi-mi:“MI:0914”(association) | 0.790 |
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| STAMBPL1 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2B | RPS6KA4 | psi-mi:“MI:0914”(association) | 0.640 |
| NEURL4 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHL40 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| KNOP1 | DHX15 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| Cep170 | WDR62 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCNA | ZNF106 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF106 | CFAP418 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF106 | SKIL | psi-mi:“MI:0915”(physical association) | 0.370 |
| Cep170 | NEURL4 | psi-mi:“MI:0914”(association) | 0.350 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
| GTSE1 | HIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| Kif18a | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| Uso1 | GOLGA2 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZA2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| EXOSC9 | MPHOSPH6 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF21A | NCOA4 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (106): ZNF106 (Affinity Capture-RNA), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS), ZNF106 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1
Diamond homologs: A4RDD7, A6ZPA6, A7EF03, A7THX0, B3LJT5, B4HSL3, B4QHG6, B8P4B0, B8PD53, B9WD30, C4YPI7, C5DF48, C5DY07, C5FP68, C5MJE8, C7GWC1, C8ZH19, D3TLL6, D4AM37, D4D8P3, O00628, P39946, P97865, Q54WA3, Q5A7Q3, Q5A7Q6, Q6CJ50, Q6CU55, Q6DFC6, Q6FT96, Q6FWT9, Q759U7, Q7KNS3, Q7RXH4, Q8IWA0, Q8R537, Q8RXA7, Q9H2Y7, A6ZQL5, B0WC36
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 99 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 |
|---|---|---|---|
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 56.0× | 3e-07 |
| Activation of BAD and translocation to mitochondria | 5 | 52.9× | 3e-06 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 46.6× | 4e-06 |
| Activation of BH3-only proteins | 5 | 34.5× | 1e-05 |
| RHO GTPases activate PKNs | 6 | 26.4× | 6e-06 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 5 | 20.9× | 1e-04 |
| Intrinsic Pathway for Apoptosis | 5 | 20.3× | 1e-04 |
| SARS-CoV-1-host interactions | 8 | 19.5× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
288 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 239 |
| Likely benign | 22 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2654 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:42417280:T:TA | donor_gain | 1.0000 |
| 15:42417280:TCCCA:T | donor_gain | 1.0000 |
| 15:42417281:C:A | donor_gain | 1.0000 |
| 15:42417304:T:TA | donor_gain | 1.0000 |
| 15:42417819:T:A | donor_gain | 1.0000 |
| 15:42417947:TGCCA:T | acceptor_gain | 1.0000 |
| 15:42417949:CCA:C | acceptor_gain | 1.0000 |
| 15:42417950:CA:C | acceptor_gain | 1.0000 |
| 15:42417950:CAC:C | acceptor_gain | 1.0000 |
| 15:42417952:C:CC | acceptor_gain | 1.0000 |
| 15:42421055:CCTTA:C | donor_loss | 1.0000 |
| 15:42421056:CTT:C | donor_loss | 1.0000 |
| 15:42421057:TTACC:T | donor_loss | 1.0000 |
| 15:42421058:T:TA | donor_loss | 1.0000 |
| 15:42421059:A:AT | donor_loss | 1.0000 |
| 15:42421059:AC:A | donor_gain | 1.0000 |
| 15:42421060:C:CA | donor_loss | 1.0000 |
| 15:42421060:CC:C | donor_gain | 1.0000 |
| 15:42421060:CCCAA:C | donor_gain | 1.0000 |
| 15:42421132:TCT:T | acceptor_loss | 1.0000 |
| 15:42421133:C:CA | acceptor_loss | 1.0000 |
| 15:42421909:ACACT:A | donor_loss | 1.0000 |
| 15:42421912:CTCA:C | donor_loss | 1.0000 |
| 15:42421913:TCA:T | donor_loss | 1.0000 |
| 15:42421914:C:CG | donor_loss | 1.0000 |
| 15:42421915:A:AC | donor_gain | 1.0000 |
| 15:42421915:A:C | donor_loss | 1.0000 |
| 15:42421916:C:CC | donor_gain | 1.0000 |
| 15:42421916:CCATG:C | donor_gain | 1.0000 |
| 15:42421984:TGAGA:T | acceptor_gain | 1.0000 |
AlphaMissense
12593 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:42417858:A:G | C1848R | 1.000 |
| 15:42421064:A:C | C1815W | 1.000 |
| 15:42421066:A:G | C1815R | 1.000 |
| 15:42421122:C:T | G1796D | 1.000 |
| 15:42422517:C:G | R1763P | 1.000 |
| 15:42422520:A:T | V1762D | 1.000 |
| 15:42422529:T:A | D1759V | 1.000 |
| 15:42422534:G:C | C1757W | 1.000 |
| 15:42422547:A:C | M1753R | 1.000 |
| 15:42422599:A:C | Y1736D | 1.000 |
| 15:42422616:C:A | G1730V | 1.000 |
| 15:42422616:C:T | G1730D | 1.000 |
| 15:42424008:T:G | H1725P | 1.000 |
| 15:42424009:G:C | H1725D | 1.000 |
| 15:42424011:G:T | A1724D | 1.000 |
| 15:42424012:C:G | A1724P | 1.000 |
| 15:42424017:A:T | V1722D | 1.000 |
| 15:42424021:A:G | S1721P | 1.000 |
| 15:42424026:T:A | D1719V | 1.000 |
| 15:42424026:T:G | D1719A | 1.000 |
| 15:42424027:C:A | D1719Y | 1.000 |
| 15:42424027:C:G | D1719H | 1.000 |
| 15:42424035:C:T | G1716D | 1.000 |
| 15:42424036:C:G | G1716R | 1.000 |
| 15:42424037:A:C | S1715R | 1.000 |
| 15:42424037:A:T | S1715R | 1.000 |
| 15:42424039:T:G | S1715R | 1.000 |
| 15:42424041:A:G | F1714S | 1.000 |
| 15:42424044:A:T | V1713E | 1.000 |
| 15:42424047:A:G | L1712P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000078351 (15:42482195 C>T), RS1000123021 (15:42486642 G>A), RS1000179648 (15:42434155 T>A), RS1000196673 (15:42437103 T>C), RS1000247504 (15:42437392 T>C), RS1000262218 (15:42445218 G>A), RS1000272601 (15:42479232 G>A), RS1000301520 (15:42438393 C>T), RS1000392045 (15:42431066 T>C), RS1000438414 (15:42438086 G>A), RS1000478445 (15:42473740 A>G), RS1000500105 (15:42488038 G>T), RS1000502293 (15:42458657 G>A), RS1000594683 (15:42446937 T>A), RS1000595042 (15:42444047 G>C)
Disease associations
OMIM: gene MIM:603988 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010083_5 | Hemoglobin levels | 1.000000e-10 |
| GCST010173_12 | Triglyceride levels | 7.000000e-24 |
| GCST90002384_377 | Hemoglobin | 4.000000e-09 |
| GCST90002397_254 | Mean spheric corpuscular volume | 3.000000e-09 |
| GCST90002403_479 | Red blood cell count | 3.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 0 entries
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| nickel chloride | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Acrylamide | 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.