H2AC25
gene geneOn this page
Also known as MGC3165
Summary
H2AC25 (H2A clustered histone 25, HGNC:20507) is a protein-coding gene on chromosome 1q42.13, encoding Histone H2A type 3 (Q7L7L0). Core component of nucleosome.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element.
Source: NCBI Gene 92815 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_033445
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20507 |
| Approved symbol | H2AC25 |
| Name | H2A clustered histone 25 |
| Location | 1q42.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3165 |
| Ensembl gene | ENSG00000181218 |
| Ensembl biotype | protein_coding |
| OMIM | 615015 |
| Entrez | 92815 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000366695, ENST00000689584, ENST00000691624
RefSeq mRNA: 1 — MANE Select: NM_033445
NM_033445
CCDS: CCDS1573
Canonical transcript exons
ENST00000645741 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 94.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 78.9401 / max 2437.4950, expressed in 1719 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17842 | 78.9401 | 1719 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 94.17 | gold quality |
| cerebellum | UBERON:0002037 | 94.16 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.15 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.81 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.75 | gold quality |
| cortical plate | UBERON:0005343 | 91.53 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.19 | gold quality |
| apex of heart | UBERON:0002098 | 89.81 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.52 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.23 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.16 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.57 | gold quality |
| adrenal gland | UBERON:0002369 | 86.29 | gold quality |
| ventricular zone | UBERON:0003053 | 85.96 | gold quality |
| nucleus accumbens | UBERON:0001882 | 85.15 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.79 | gold quality |
| putamen | UBERON:0001874 | 84.07 | gold quality |
| brain | UBERON:0000955 | 83.90 | gold quality |
| frontal cortex | UBERON:0001870 | 83.64 | gold quality |
| heart left ventricle | UBERON:0002084 | 83.53 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.45 | gold quality |
| caudate nucleus | UBERON:0001873 | 83.23 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.06 | gold quality |
| vagina | UBERON:0000996 | 82.94 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.78 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.71 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 82.49 | gold quality |
| skin of abdomen | UBERON:0001416 | 82.36 | gold quality |
| Ammon’s horn | UBERON:0001954 | 82.36 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6505 | yes | 22578.60 |
| E-MTAB-5061 | yes | 6.05 |
| E-ANND-3 | no | 0.39 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 2)
- Overexpression of HIST3H2A reversed the anti-proliferation effects induced by miR-516a-5p in non-small cell lung cancer cells. (PMID:30966836)
- HIST3H2A promotes the progression of prostate cancer through inhibiting cell necroptosis. (PMID:38684944)
Cross-species orthologs
22 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | H2ac25 | ENSMUSG00000078851 |
| rattus_norvegicus | H2ac25 | ENSRNOG00000064520 |
| drosophila_melanogaster | His2A:CG31618 | FBGN0051618 |
| drosophila_melanogaster | His2A:CG33808 | FBGN0053808 |
| drosophila_melanogaster | His2A:CG33814 | FBGN0053814 |
| drosophila_melanogaster | His2A:CG33817 | FBGN0053817 |
| drosophila_melanogaster | His2A:CG33820 | FBGN0053820 |
| drosophila_melanogaster | His2A:CG33823 | FBGN0053823 |
| drosophila_melanogaster | His2A:CG33826 | FBGN0053826 |
| drosophila_melanogaster | His2A:CG33829 | FBGN0053829 |
| drosophila_melanogaster | His2A:CG33832 | FBGN0053832 |
| drosophila_melanogaster | His2A:CG33835 | FBGN0053835 |
| drosophila_melanogaster | His2A:CG33838 | FBGN0053838 |
| drosophila_melanogaster | His2A:CG33841 | FBGN0053841 |
| drosophila_melanogaster | His2A:CG33844 | FBGN0053844 |
| drosophila_melanogaster | His2A:CG33847 | FBGN0053847 |
| drosophila_melanogaster | His2A:CG33850 | FBGN0053850 |
| drosophila_melanogaster | His2A:CG33853 | FBGN0053853 |
| drosophila_melanogaster | His2A:CG33856 | FBGN0053856 |
| drosophila_melanogaster | His2A:CG33859 | FBGN0053859 |
| drosophila_melanogaster | His2A:CG33862 | FBGN0053862 |
| drosophila_melanogaster | His2A:CG33865 | FBGN0053865 |
Paralogs (27): MACROH2A2 (ENSG00000099284), H2AZ2 (ENSG00000105968), MACROH2A1 (ENSG00000113648), H2AZ1 (ENSG00000164032), H2AC1 (ENSG00000164508), H2AC6 (ENSG00000180573), H2AC20 (ENSG00000184260), H2AC21 (ENSG00000184270), H2AX (ENSG00000188486), H2AC13 (ENSG00000196747), H2AC11 (ENSG00000196787), H2AC7 (ENSG00000196866), H2AL3 (ENSG00000229674), H2AJ (ENSG00000246705), H2AL1Q (ENSG00000249467), H2AB1 (ENSG00000274183), H2AC12 (ENSG00000274997), H2AC15 (ENSG00000275221), H2AC14 (ENSG00000276368), H2AC16 (ENSG00000276903), H2AC8 (ENSG00000277075), H2AB3 (ENSG00000277745), H2AB2 (ENSG00000277858), H2AC4 (ENSG00000278463), H2AC17 (ENSG00000278677), H2AC18 (ENSG00000288825), H2AC19 (ENSG00000288859)
Protein
Protein identifiers
Histone H2A type 3 — Q7L7L0 (reviewed: Q7L7L0)
Alternative names: H2A-clustered histone 25
All UniProt accessions (1): Q7L7L0
UniProt curated annotations — full annotation on UniProt →
Function. Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
Subunit / interactions. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Deiminated on Arg-4 in granulocytes upon calcium entry. Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of ‘Lys-27’ of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers. Following DNA double-strand breaks (DSBs), it is ubiquitinated through ‘Lys-63’ linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and ‘Lys-63’-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend ‘Lys-63’-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired. H2AK119Ub and ionizing radiation-induced ‘Lys-63’-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events. Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription.
Similarity. Belongs to the histone H2A family.
RefSeq proteins (1): NP_254280* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002119 | Histone_H2A | Family |
| IPR007125 | H2A/H2B/H3 | Domain |
| IPR009072 | Histone-fold | Homologous_superfamily |
| IPR032454 | Histone_H2A_C | Domain |
| IPR032458 | Histone_H2A_CS | Conserved_site |
Pfam: PF00125, PF16211
UniProt features (53 total): modified residue 35, helix 5, cross-link 3, strand 3, turn 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, mutagenesis site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9ECP | ELECTRON MICROSCOPY | 1.91 |
| 9FH9 | ELECTRON MICROSCOPY | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L7L0-F1 | 91.20 | 0.80 |
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 (38): 10, 10, 10, 10, 14, 14, 16, 37, 37, 37, 37, 75, 76, 96, 96, 96, 96, 96, 105, 119 …
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 2 | blocks the inhibition of transcription by rps6ka5/msk1. |
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214815 | HDACs deacetylate histones |
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3214858 | RMTs methylate histone arginines |
| R-HSA-5689603 | UCH proteinases |
| R-HSA-5689880 | Ub-specific processing proteases |
| R-HSA-5689901 | Metalloprotease DUBs |
| R-HSA-9609690 | HCMV Early Events |
| R-HSA-9610379 | HCMV Late Events |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 217 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, CCAWYNNGAAR_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_UV, FISCHER_G1_S_CELL_CYCLE, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_RESPONSE_TO_UV, GOBP_DNA_DAMAGE_RESPONSE, GOBP_RESPONSE_TO_RADIATION, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS
GO Biological Process (3): nucleosome disassembly (GO:0006337), heterochromatin formation (GO:0031507), UV-damage excision repair (GO:0070914)
GO Molecular Function (4): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), extracellular exosome (GO:0070062), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 3 |
| Deubiquitination | 3 |
| HCMV Infection | 2 |
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromatin | 2 |
| protein-DNA complex disassembly | 1 |
| nucleosome organization | 1 |
| cellular component assembly | 1 |
| heterochromatin boundary formation | 1 |
| negative regulation of gene expression, epigenetic | 1 |
| heterochromatin organization | 1 |
| DNA repair | 1 |
| cellular response to UV | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1192 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H2AC25 | H1-1 | Q02539 | 731 |
| H2AC25 | H2BC21 | Q16778 | 550 |
| H2AC25 | H2BC26 | Q8N257 | 509 |
| H2AC25 | H3C1 | P02295 | 497 |
| H2AC25 | H1-4 | P10412 | 458 |
| H2AC25 | H1-5 | P16401 | 444 |
| H2AC25 | PCDHB4 | Q9Y5E5 | 433 |
| H2AC25 | H2BC1 | Q96A08 | 431 |
| H2AC25 | PCDHB7 | Q9Y5E2 | 426 |
| H2AC25 | PCDHB3 | Q9Y5E6 | 425 |
| H2AC25 | CDK5R2 | Q13319 | 418 |
| H2AC25 | EEF1A1 | P04719 | 401 |
| H2AC25 | PCDHB10 | Q9UN67 | 392 |
| H2AC25 | NRARP | Q7Z6K4 | 384 |
| H2AC25 | DHTKD1 | Q96HY7 | 380 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OPG044 | DDX3X | psi-mi:“MI:0914”(association) | 0.730 |
| H2AC25 | psi-mi:“MI:0407”(direct interaction) | 0.620 | |
| H2AC25 | psi-mi:“MI:0407”(direct interaction) | 0.620 | |
| H2AC25 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| H2AC25 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HSF2BP | H2AC25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H2AC25 | NDUFV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| P/V/C | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE2B | H2AC25 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| NOP1 | H2AC25 | psi-mi:“MI:0213”(methylation reaction) | 0.440 |
| RNF168 | H2AC25 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SPT16 | H2AC25 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ORF73 | ECI2 | psi-mi:“MI:0914”(association) | 0.350 |
| CHD1L | H2BC12 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE2B | Ubr2 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AC25 | SSRP1 | psi-mi:“MI:0914”(association) | 0.350 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| RALBP1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCB | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| MYLK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ELK4 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6KA3 | BAG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCB | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAMK2A | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (157): KRTAP10-3 (Two-hybrid), HIST3H2A (Affinity Capture-MS), HIST3H2A (Two-hybrid), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-RNA), HIST3H2A (Reconstituted Complex), HIST3H2A (Affinity Capture-MS), HIST3H2A (Affinity Capture-MS), HIST3H2A (Two-hybrid)
ESM2 similar proteins: A1A4R1, A9UMV8, C0HKE1, C0HKE2, C0HKE3, C0HKE4, C0HKE5, C0HKE6, C0HKE7, C0HKE8, C0HKE9, P02262, P02263, P02270, P04908, P06897, P0C0S8, P0C0S9, P0C169, P0C170, P0CC09, P13912, P19178, P20671, P21896, P27325, P35061, P35062, P70082, P84052, Q07135, Q16777, Q3ZBX9, Q4FZT6, Q4R3X5, Q64522, Q64523, Q64598, Q6FI13, Q6GSS7
Diamond homologs: A0A097I1R9, A0A097I2B5, A0A0D2UG83, A1A4R1, A1CJ10, A1D8G8, A3LXE7, A3LZZ0, A5DBG4, A5DJJ2, A5DWF1, A5DXC6, A9UMV8, C0HKE1, C0HKE2, C0HKE3, C0HKE4, C0HKE5, C0HKE6, C0HKE7, C0HKE8, C0HKE9, L7HZV6, O74268, P02262, P02263, P02264, P04908, P04909, P04910, P04911, P04912, P06897, P07793, P08844, P0C0S8, P0C0S9, P0C169, P0C170, P0C952
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLBP | “up-regulates quantity by expression” | H2AW | “translation regulation” |
| DZIP3 | “up-regulates activity” | H2AW | monoubiquitination |
| RPS6KA5 | “up-regulates activity” | H2AW | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
125 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:228457648:TCGAG:T | donor_gain | 0.6200 |
| 1:228457649:CGAGC:C | donor_gain | 0.6200 |
| 1:228457774:G:C | donor_gain | 0.5600 |
| 1:228457773:AG:A | donor_gain | 0.5500 |
| 1:228457431:G:A | donor_gain | 0.5400 |
| 1:228457430:TGCCC:T | donor_gain | 0.4900 |
| 1:228457431:GCCCT:G | donor_gain | 0.4700 |
| 1:228457432:CCCTT:C | donor_gain | 0.4500 |
| 1:228457185:C:A | donor_gain | 0.4400 |
| 1:228457167:C:CT | donor_gain | 0.4300 |
| 1:228457166:C:CT | donor_gain | 0.4200 |
| 1:228457212:A:G | donor_gain | 0.4100 |
| 1:228457213:C:T | donor_gain | 0.4100 |
| 1:228457427:A:AC | donor_gain | 0.4100 |
| 1:228457428:C:CC | donor_gain | 0.4100 |
| 1:228457214:C:T | donor_gain | 0.4000 |
| 1:228457432:C:CA | donor_gain | 0.4000 |
| 1:228457474:ACGG:A | donor_gain | 0.4000 |
| 1:228457475:CGGC:C | donor_gain | 0.4000 |
| 1:228457592:T:TA | donor_gain | 0.4000 |
| 1:228457453:T:A | donor_gain | 0.3900 |
| 1:228457429:TTGCC:T | donor_gain | 0.3800 |
| 1:228457209:C:T | donor_gain | 0.3700 |
| 1:228457211:CACCT:C | donor_gain | 0.3700 |
| 1:228457194:TAACA:T | donor_gain | 0.3600 |
| 1:228457208:GCCCA:G | donor_gain | 0.3600 |
| 1:228457209:CCCA:C | donor_loss | 0.3600 |
| 1:228457210:CCAC:C | donor_loss | 0.3600 |
| 1:228457210:CCACC:C | donor_gain | 0.3600 |
| 1:228457211:CAC:C | donor_loss | 0.3600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000238442 (1:228458768 T>A,C), RS1001050817 (1:228458095 C>A,G,T), RS1002053230 (1:228457187 CTGT>C), RS1002084351 (1:228457042 G>T), RS1003133451 (1:228457383 C>A,G,T), RS1003578151 (1:228459643 G>A), RS1003611386 (1:228459394 C>T), RS1003893672 (1:228457092 T>C,G), RS1003987150 (1:228456898 T>C), RS1005427562 (1:228458307 A>G), RS1006021664 (1:228459412 C>T), RS1006164175 (1:228459062 C>G,T), RS1006483586 (1:228459274 C>G,T), RS1007247054 (1:228458986 C>A,T), RS1007334703 (1:228458782 C>T)
Disease associations
OMIM: gene MIM:615015 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003833_18 | Adult asthma | 7.000000e-08 |
| GCST003833_2 | Adult asthma | 1.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation | 3 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| cobaltous chloride | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| pentanal | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Berberine | decreases expression | 1 |
| Bilirubin | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Dieldrin | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | 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.