ZNF410
gene geneOn this page
Also known as APA1APA-1
Summary
ZNF410 (zinc finger protein 410, HGNC:20144) is a protein-coding gene on chromosome 14q24.3, encoding Zinc finger protein 410 (Q86VK4). Transcription factor that binds to the sequence motif 5’-CATCCCATAATA-3’, and is specifically required to silence expression of fetal hemoglobin in adult erythroid cells.
Enables DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of gene expression and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromosome. Predicted to be active in nucleus.
Source: NCBI Gene 57862 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_021188
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20144 |
| Approved symbol | ZNF410 |
| Name | zinc finger protein 410 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | APA1, APA-1 |
| Ensembl gene | ENSG00000119725 |
| Ensembl biotype | protein_coding |
| OMIM | 619427 |
| Entrez | 57862 |
Gene structure
Transcript identifiers
Ensembl transcripts: 47 — 39 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000324593, ENST00000334521, ENST00000398139, ENST00000412490, ENST00000442160, ENST00000540593, ENST00000541357, ENST00000554316, ENST00000554582, ENST00000554797, ENST00000555044, ENST00000555602, ENST00000555620, ENST00000555730, ENST00000556160, ENST00000556179, ENST00000556396, ENST00000556659, ENST00000556797, ENST00000557214, ENST00000557495, ENST00000557679, ENST00000615736, ENST00000896480, ENST00000896481, ENST00000896482, ENST00000896483, ENST00000896484, ENST00000896485, ENST00000896486, ENST00000896487, ENST00000896488, ENST00000896489, ENST00000939733, ENST00000939735, ENST00000939737, ENST00000939738, ENST00000966298, ENST00000966299, ENST00000966300, ENST00000966301, ENST00000966302, ENST00000966303, ENST00000966304, ENST00000966305, ENST00000966306, ENST00000966307
RefSeq mRNA: 5 — MANE Select: NM_021188
NM_001242924, NM_001242926, NM_001242927, NM_001242928, NM_021188
CCDS: CCDS55929, CCDS55930, CCDS55931, CCDS9821
Canonical transcript exons
ENST00000555044 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002504534 | 73931503 | 73932521 |
| ENSE00003466856 | 73903960 | 73904110 |
| ENSE00003470013 | 73904902 | 73905083 |
| ENSE00003479050 | 73922066 | 73922206 |
| ENSE00003514619 | 73898071 | 73898262 |
| ENSE00003538731 | 73920980 | 73921105 |
| ENSE00003600680 | 73892027 | 73892208 |
| ENSE00003636295 | 73893797 | 73893932 |
| ENSE00003640597 | 73896316 | 73896534 |
| ENSE00003667608 | 73909341 | 73909430 |
| ENSE00003671624 | 73923395 | 73923522 |
| ENSE00003899147 | 73886859 | 73886915 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 94.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.4945 / max 325.6449, expressed in 1809 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140560 | 17.4309 | 1797 |
| 140561 | 2.7242 | 1464 |
| 140559 | 1.4495 | 680 |
| 140562 | 0.8429 | 305 |
| 140558 | 0.0470 | 13 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 94.25 | gold quality |
| bone marrow | UBERON:0002371 | 94.16 | gold quality |
| bone marrow cell | CL:0002092 | 94.12 | gold quality |
| right testis | UBERON:0004534 | 93.82 | gold quality |
| left testis | UBERON:0004533 | 93.80 | gold quality |
| testis | UBERON:0000473 | 93.59 | gold quality |
| ventricular zone | UBERON:0003053 | 93.47 | gold quality |
| left ovary | UBERON:0002119 | 93.35 | gold quality |
| ovary | UBERON:0000992 | 93.31 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 93.06 | gold quality |
| endometrium | UBERON:0001295 | 93.01 | gold quality |
| placenta | UBERON:0001987 | 92.97 | gold quality |
| right ovary | UBERON:0002118 | 92.97 | gold quality |
| skin of leg | UBERON:0001511 | 92.74 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.72 | gold quality |
| zone of skin | UBERON:0000014 | 92.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.47 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.44 | gold quality |
| tibial artery | UBERON:0007610 | 92.37 | gold quality |
| popliteal artery | UBERON:0002250 | 92.36 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.33 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.28 | gold quality |
| left uterine tube | UBERON:0001303 | 92.27 | gold quality |
| adrenal gland | UBERON:0002369 | 92.11 | gold quality |
| myometrium | UBERON:0001296 | 91.94 | gold quality |
| gall bladder | UBERON:0002110 | 91.94 | gold quality |
| esophagus | UBERON:0001043 | 91.89 | gold quality |
| lower esophagus | UBERON:0013473 | 91.88 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.37 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
6 targets.
| Target | Regulation |
|---|---|
| CHD4 | Activation |
| HBG1 | Repression |
| HBG2 | Repression |
| MMP1 | Unknown |
| MT1A | |
| TGFA |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0752.1 | ZNF410 | More than 3 adjacent zinc fingers |
| MA0752.2 | ZNF410 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:19443739
miRNA regulators (miRDB)
34 targeting ZNF410, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-3192-3P | 98.62 | 65.80 | 970 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-6516-5P | 98.42 | 70.19 | 1551 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-510-5P | 97.66 | 65.82 | 916 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
| HSA-MIR-383-5P | 96.86 | 67.55 | 820 |
| HSA-MIR-550B-2-5P | 96.56 | 64.61 | 646 |
| HSA-MIR-152-5P | 96.42 | 66.59 | 960 |
Literature-anchored findings (GeneRIF, showing 6)
- APA1 has a role in inducing extracellular matrix remodeling genes (PMID:12370286)
- VDR polymorphism genotypes and haplotypes did not directly alter recurrence risk, but the reduction in risk associated with high dairy product intake was confined to individuals with ApaI aA/AA genotype. (PMID:18470879)
- No association was found between Apa1 genotypes and osteoporosis (PMID:26290023)
- The HG-stimulated proliferative capacity was abolished upon decreasing O-GlcNAcylation, which could be reversed gradually by the simultaneous overexpression of APA1 and GJC1. Therefore, GJC1 could be a potential target for preventing liver cancer in patients with diabetes. (PMID:30078215)
- ZNF410 Uniquely Activates the NuRD Component CHD4 to Silence Fetal Hemoglobin Expression. (PMID:33301730)
- ZNF410 represses fetal globin by singular control of CHD4. (PMID:33859416)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf410 | ENSDARG00000008218 |
| mus_musculus | Zfp410 | ENSMUSG00000042472 |
| rattus_norvegicus | Zfp410 | ENSRNOG00000010985 |
Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)
Protein
Protein identifiers
Zinc finger protein 410 — Q86VK4 (reviewed: Q86VK4)
Alternative names: Another partner for ARF 1
All UniProt accessions (12): Q86VK4, G3V2C2, G3V2G5, G3V2V5, G3V369, G3V398, G3V3W2, G3V4E6, G3V4H7, G3V4W2, H0YJI7, J3KNQ6
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to the sequence motif 5’-CATCCCATAATA-3’, and is specifically required to silence expression of fetal hemoglobin in adult erythroid cells. Prevents expression of fetal hemoglobin genes HBG1 and HBG2 through CHD4: acts as a direct transcriptional activator of CHD4, a central component of the NuRD complex that represses transcription of fetal hemoglobin genes HBG1 and HBG2 in erythroid cells. May also activate transcription of matrix-remodeling genes such as MMP1 during fibroblast senescence. May activate transcription of the gap junction gene GJC1, perhaps in response to increasing glucose. However, recent studies suggest that ZNF410 is dedicated to regulate expression of a single gene: CHD4.
Subunit / interactions. Interacts with CDKN2A/p14ARF.
Subcellular location. Nucleus. Chromosome.
Tissue specificity. Widely expressed.
Post-translational modifications. Sumoylated. Sumoylation increases its half-life, possibly by blocking ubiquitin-mediated degradation. O-glycosylated. O-GlcNAcylation may occur in response to increasing glucose levels and affect transcription factor activity.
Domain organisation. The five zinc finger domains are necessary and sufficient to bind to DNA.
Induction. During fibroblast senescence.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86VK4-1 | 1 | yes |
| Q86VK4-2 | 2 | |
| Q86VK4-3 | 3 | |
| Q86VK4-4 | 4 | |
| Q86VK4-5 | 5 |
RefSeq proteins (5): NP_001229853, NP_001229855, NP_001229856, NP_001229857, NP_067011* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (48 total): binding site 20, splice variant 6, helix 6, zinc finger region 5, strand 5, turn 4, chain 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6WMI | X-RAY DIFFRACTION | 2.75 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VK4-F1 | 49.19 | 0.03 |
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 (20): 243; 251; 256; 269; 273; 281; 286; 299; 303; 311; 316; 329 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 152 (showing top):
MORF_RAB5A, MORF_PSMC2, MORF_RAF1, ONKEN_UVEAL_MELANOMA_UP, chr14q24, MARTINEZ_RB1_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, MORF_PPP6C, RYTTCCTG_ETS2_B, DANG_BOUND_BY_MYC, MARTINEZ_RB1_AND_TP53_TARGETS_UP, BROWNE_HCMV_INFECTION_14HR_UP, BENPORATH_MYC_MAX_TARGETS, SCGGAAGY_ELK1_02
GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of gene expression (GO:0010629), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of macromolecule biosynthetic process (GO:0010558), oxygen transport (GO:0015671), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity (GO:0003700), transcription coregulator activity (GO:0003712), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 2 |
| transcription regulator activity | 2 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| macromolecule biosynthetic process | 1 |
| negative regulation of biosynthetic process | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| negative regulation of macromolecule metabolic process | 1 |
| gas transport | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF410 | CDX2 | Q99626 | 574 |
| ZNF410 | TFCP2 | Q12800 | 545 |
| ZNF410 | CNOT1 | A5YKK6 | 478 |
| ZNF410 | CYP2R1 | Q6VVX0 | 445 |
| ZNF410 | CYP24A1 | Q07973 | 431 |
| ZNF410 | CPA2 | P48052 | 419 |
| ZNF410 | ST8SIA4 | Q92187 | 400 |
| ZNF410 | GC | P02774 | 398 |
| ZNF410 | CPA1 | P15085 | 394 |
| ZNF410 | SLC9A1 | P19634 | 375 |
| ZNF410 | CYP27B1 | O15528 | 369 |
| ZNF410 | C10orf88 | Q9H8K7 | 348 |
| ZNF410 | ACAP3 | Q96P50 | 347 |
| ZNF410 | CHD4 | Q14839 | 331 |
| ZNF410 | MRM2 | Q9UI43 | 328 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BLZF1 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FSD2 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF410 | TRAF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD1 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM9B | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF410 | ZNF397 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP70 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB3IP | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF410 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF410 | FSD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF410 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF2 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF410 | RAB3IP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSGA10 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (65): ZNF410 (Two-hybrid), ZNF410 (Two-hybrid), ZNF410 (Two-hybrid), ZNF410 (Two-hybrid), ZNF410 (Two-hybrid), CEP70 (Two-hybrid), TSGA10 (Two-hybrid), ZNF397 (Two-hybrid), RAB3IP (Two-hybrid), FSD2 (Two-hybrid), FAM9B (Two-hybrid), PNMA1 (Two-hybrid), DVL2 (Two-hybrid), PPP1R16B (Two-hybrid), ZNF410 (Two-hybrid)
ESM2 similar proteins: A0A1D5NS60, A0JN76, A1YFX5, A2T7G6, A6NJL1, D2HQI1, F1MJR8, O14901, P0CG00, P10754, P22227, P98182, Q0IJ29, Q1L8W0, Q3SWU4, Q5DW34, Q5EAC5, Q5EXX3, Q5RHB5, Q5SXI5, Q5T619, Q66H04, Q6NRM8, Q6NV66, Q6ZSB9, Q7M6U3, Q7TS63, Q7TSH3, Q7ZWZ4, Q801P1, Q86VK4, Q8BKX7, Q8BXX2, Q8NAM6, Q8NAP3, Q8NCP5, Q8R0A2, Q91VW9, Q96IT1, Q96N77
Diamond homologs: Q5EAC5, Q86VK4, Q8BKX7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2483 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:73892021:TTCTA:T | acceptor_loss | 1.0000 |
| 14:73892022:TCTA:T | acceptor_loss | 1.0000 |
| 14:73892024:TA:T | acceptor_loss | 1.0000 |
| 14:73892024:TAGGT:T | acceptor_loss | 1.0000 |
| 14:73892025:A:T | acceptor_loss | 1.0000 |
| 14:73892026:G:A | acceptor_loss | 1.0000 |
| 14:73898068:CAGGT:C | acceptor_loss | 1.0000 |
| 14:73898069:A:AC | acceptor_loss | 1.0000 |
| 14:73898070:G:GT | acceptor_loss | 1.0000 |
| 14:73904111:G:GG | donor_gain | 1.0000 |
| 14:73904204:A:T | donor_gain | 1.0000 |
| 14:73904899:CA:C | acceptor_loss | 1.0000 |
| 14:73904900:A:AC | acceptor_loss | 1.0000 |
| 14:73904900:A:AG | acceptor_gain | 1.0000 |
| 14:73904901:G:GA | acceptor_gain | 1.0000 |
| 14:73904901:G:GC | acceptor_loss | 1.0000 |
| 14:73904901:G:GG | acceptor_gain | 1.0000 |
| 14:73904901:GA:G | acceptor_gain | 1.0000 |
| 14:73904901:GAA:G | acceptor_gain | 1.0000 |
| 14:73904901:GAAA:G | acceptor_gain | 1.0000 |
| 14:73904901:GAAAT:G | acceptor_gain | 1.0000 |
| 14:73905080:ACAGG:A | donor_loss | 1.0000 |
| 14:73905081:CAGG:C | donor_loss | 1.0000 |
| 14:73905082:AGG:A | donor_loss | 1.0000 |
| 14:73905082:AGGTG:A | donor_loss | 1.0000 |
| 14:73905084:G:C | donor_loss | 1.0000 |
| 14:73905084:GTGT:G | donor_loss | 1.0000 |
| 14:73905085:T:A | donor_loss | 1.0000 |
| 14:73920961:AACCT:A | acceptor_gain | 1.0000 |
| 14:73921082:G:GT | donor_gain | 1.0000 |
AlphaMissense
3115 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:73904921:T:C | C251R | 1.000 |
| 14:73904948:T:C | F260L | 1.000 |
| 14:73904950:C:A | F260L | 1.000 |
| 14:73904950:C:G | F260L | 1.000 |
| 14:73905011:T:C | C281R | 1.000 |
| 14:73905038:T:C | F290L | 1.000 |
| 14:73905039:T:C | F290S | 1.000 |
| 14:73905040:T:A | F290L | 1.000 |
| 14:73905040:T:G | F290L | 1.000 |
| 14:73909358:T:C | C311R | 1.000 |
| 14:73909385:T:C | F320L | 1.000 |
| 14:73909387:T:A | F320L | 1.000 |
| 14:73909387:T:G | F320L | 1.000 |
| 14:73920997:T:C | C341R | 1.000 |
| 14:73921018:T:C | F348L | 1.000 |
| 14:73921020:C:A | F348L | 1.000 |
| 14:73921020:C:G | F348L | 1.000 |
| 14:73904040:T:A | C221S | 0.999 |
| 14:73904040:T:C | C221R | 0.999 |
| 14:73904041:G:C | C221S | 0.999 |
| 14:73904042:T:G | C221W | 0.999 |
| 14:73904067:T:C | F230L | 0.999 |
| 14:73904068:T:C | F230S | 0.999 |
| 14:73904069:T:A | F230L | 0.999 |
| 14:73904069:T:G | F230L | 0.999 |
| 14:73904921:T:A | C251S | 0.999 |
| 14:73904922:G:C | C251S | 0.999 |
| 14:73904923:T:G | C251W | 0.999 |
| 14:73904936:T:A | C256S | 0.999 |
| 14:73904936:T:C | C256R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000032322 (14:73914924 G>A), RS1000102421 (14:73910384 T>C), RS1000104317 (14:73901997 A>C,G), RS1000221862 (14:73897299 T>G), RS1000307244 (14:73910057 A>G), RS1000371674 (14:73897685 G>A), RS1000424252 (14:73905443 C>T), RS1000570344 (14:73905389 A>G), RS1000686230 (14:73891801 T>C), RS1000753916 (14:73899013 A>G), RS1000759535 (14:73890546 T>C), RS1000817371 (14:73917068 T>G), RS1000820479 (14:73930638 C>T), RS1000823383 (14:73891535 G>A), RS1000849871 (14:73916792 A>G)
Disease associations
OMIM: gene MIM:619427 | 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 |
|---|---|---|
| GCST005557_1 | Serum uric acid levels | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| geraniol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 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.