H2AC21
gene geneOn this page
Summary
H2AC21 (H2A clustered histone 21, HGNC:20508) is a protein-coding gene on chromosome 1q21.2, encoding Histone H2A type 2-B (Q8IUE6). 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 317772 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 25 total
- Druggable target: yes
- MANE Select transcript:
NM_175065
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20508 |
| Approved symbol | H2AC21 |
| Name | H2A clustered histone 21 |
| Location | 1q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000184270 |
| Ensembl biotype | protein_coding |
| OMIM | 615014 |
| Entrez | 317772 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000331128
RefSeq mRNA: 1 — MANE Select: NM_175065
NM_175065
CCDS: CCDS938
Canonical transcript exons
ENST00000331128 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001433520 | 149887469 | 149887965 |
Expression profiles
Bgee: expression breadth ubiquitous, 118 present calls, max score 97.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 264.2373 / max 3834.0868, expressed in 1817 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14258 | 264.2373 | 1817 |
Top tissues by expression
127 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.98 | gold quality |
| bone marrow cell | CL:0002092 | 97.24 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.35 | silver quality |
| corpus callosum | UBERON:0002336 | 88.64 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.56 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.13 | gold quality |
| bone marrow | UBERON:0002371 | 83.04 | gold quality |
| granulocyte | CL:0000094 | 68.06 | gold quality |
| sural nerve | UBERON:0015488 | 67.50 | gold quality |
| tonsil | UBERON:0002372 | 64.77 | gold quality |
| blood | UBERON:0000178 | 56.24 | gold quality |
| urinary bladder | UBERON:0001255 | 54.63 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 53.65 | gold quality |
| ventricular zone | UBERON:0003053 | 53.24 | gold quality |
| uterine cervix | UBERON:0000002 | 53.21 | gold quality |
| leukocyte | CL:0000738 | 52.02 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 51.97 | gold quality |
| primary visual cortex | UBERON:0002436 | 51.51 | gold quality |
| monocyte | CL:0000576 | 51.23 | gold quality |
| mucosa of stomach | UBERON:0001199 | 49.44 | gold quality |
| skin of abdomen | UBERON:0001416 | 48.90 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 47.84 | gold quality |
| zone of skin | UBERON:0000014 | 47.61 | gold quality |
| kidney | UBERON:0002113 | 46.74 | gold quality |
| lung | UBERON:0002048 | 46.68 | gold quality |
| skin of leg | UBERON:0001511 | 46.36 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 46.04 | gold quality |
| muscle tissue | UBERON:0002385 | 45.97 | gold quality |
| ectocervix | UBERON:0012249 | 45.79 | gold quality |
| ganglionic eminence | UBERON:0004023 | 45.70 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.51 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- Monoubiquitylation of H2A forms part of the cellular response to UV damage and suggest a role of this modification in DNA repair-induced chromatin remodeling. (PMID:16702407)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000098739 | ||
| mus_musculus | H2ac21 | ENSMUSG00000063689 |
| caenorhabditis_elegans | WBGENE00014240 |
Paralogs (27): MACROH2A2 (ENSG00000099284), H2AZ2 (ENSG00000105968), MACROH2A1 (ENSG00000113648), H2AZ1 (ENSG00000164032), H2AC1 (ENSG00000164508), H2AC6 (ENSG00000180573), H2AC25 (ENSG00000181218), H2AC20 (ENSG00000184260), 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 2-B — Q8IUE6 (reviewed: Q8IUE6)
Alternative names: H2A-clustered histone 21
All UniProt accessions (1): Q8IUE6
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. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage. 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. 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_778235* (*=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 (41 total): modified residue 32, cross-link 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IUE6-F1 | 90.98 | 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 (35): 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: 84 (showing top):
FISCHER_G1_S_CELL_CYCLE, GGGTGGRR_PAX4_03, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CREB_Q3, FISCHER_DREAM_TARGETS, OCT1_B, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, TTTNNANAGCYR_UNKNOWN, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, TGGAAA_NFAT_Q4_01, chr1q21, GOCC_PROTEIN_DNA_COMPLEX, CAMPS_COLON_CANCER_COPY_NUMBER_DN
GO Biological Process (1): heterochromatin formation (GO:0031507)
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 |
| cellular component assembly | 1 |
| heterochromatin boundary formation | 1 |
| negative regulation of gene expression, epigenetic | 1 |
| heterochromatin organization | 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
1230 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H2AC21 | H2BC21 | Q16778 | 464 |
| H2AC21 | H1-1 | Q02539 | 451 |
| H2AC21 | H1-2 | P16403 | 396 |
| H2AC21 | H1-5 | P16401 | 391 |
| H2AC21 | ZNF532 | Q9HCE3 | 369 |
| H2AC21 | H4C16 | P02304 | 334 |
| H2AC21 | GUF1 | Q8N442 | 324 |
| H2AC21 | DDX3Y | O15523 | 318 |
| H2AC21 | H2BC26 | Q8N257 | 301 |
| H2AC21 | CD4 | P01730 | 290 |
| H2AC21 | PRSS3 | P15951 | 278 |
| H2AC21 | PKN2 | Q16513 | 277 |
| H2AC21 | H1-0 | P07305 | 275 |
| H2AC21 | LYSET | Q8N6I4 | 275 |
| H2AC21 | KRTAP6-3 | Q3LI67 | 272 |
IntAct
179 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| H2AC21 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HMGA1 | H2AC21 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HMGA1 | H2AC21 | psi-mi:“MI:0914”(association) | 0.670 |
| H2AC4 | PPM1G | psi-mi:“MI:0914”(association) | 0.670 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-5 | H2AC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H1-2 | H2AC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H2AC21 | H1-0 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF398 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF491 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| POLB | PARP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SSRP1 | PARP1 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | RPL17 | psi-mi:“MI:0914”(association) | 0.530 |
| MED27 | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (311): HIST2H2AB (Affinity Capture-RNA), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS)
ESM2 similar proteins: A0A1W2PP81, A0A1W2PPE2, A0A1W2PPH5, A0A1W2PPL8, A0A1W2PR64, A0A1W2PRV1, A0A3B3IU63, A4QVR2, A5DQL2, A9UMV8, F4HR03, O35216, P06898, P0C1H6, P0C5Y9, P0C5Z0, P0DW11, P0DW12, P0DW13, P0DW14, P0DW85, P35061, P48003, P49450, Q00728, Q3SZB8, Q3ZBX9, Q4IMD1, Q5M8Q2, Q5TKR9, Q64522, Q64598, Q7Z2G1, Q803H4, Q873G4, Q8BRB7, Q8BZ21, Q8CGP5, Q8IUE6, Q8R1M2
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
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLBP | “up-regulates quantity by expression” | H2AC21 | “translation regulation” |
| DZIP3 | “up-regulates activity” | H2AC21 | monoubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 208 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 |
|---|---|---|---|
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 6 | 30.1× | 2e-07 |
| Peptide chain elongation | 23 | 21.8× | 8e-23 |
| Viral mRNA Translation | 23 | 21.8× | 8e-23 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 23 | 21.5× | 8e-23 |
| Selenocysteine synthesis | 23 | 20.6× | 2e-22 |
| Eukaryotic Translation Termination | 23 | 20.6× | 2e-22 |
| SIRT1 negatively regulates rRNA expression | 16 | 20.4× | 1e-15 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 23 | 20.2× | 2e-22 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 8 | 47.8× | 3e-10 |
| chromosome condensation | 8 | 35.9× | 3e-09 |
| cytoplasmic translation | 24 | 23.6× | 1e-23 |
| heterochromatin formation | 13 | 17.7× | 8e-11 |
| nucleosome assembly | 21 | 15.7× | 6e-17 |
| ribosomal large subunit biogenesis | 6 | 14.2× | 3e-04 |
| translation | 24 | 13.1× | 2e-17 |
| ribosomal small subunit biogenesis | 10 | 12.1× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
56 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:149887963:TGGA:T | donor_gain | 0.7600 |
| 1:149887803:G:A | donor_gain | 0.6600 |
| 1:149887526:A:AC | donor_gain | 0.6400 |
| 1:149887527:C:CC | donor_gain | 0.6400 |
| 1:149887934:T:G | donor_gain | 0.6400 |
| 1:149887552:T:A | donor_gain | 0.5800 |
| 1:149887536:G:A | donor_gain | 0.5700 |
| 1:149887890:G:A | donor_gain | 0.5400 |
| 1:149887799:AGTTG:A | donor_gain | 0.5200 |
| 1:149887748:CGAGG:C | donor_gain | 0.5100 |
| 1:149887829:G:A | donor_gain | 0.5100 |
| 1:149887894:C:A | donor_gain | 0.5000 |
| 1:149887655:CGG:C | donor_gain | 0.4500 |
| 1:149887649:T:A | donor_gain | 0.4300 |
| 1:149887650:C:A | donor_gain | 0.4200 |
| 1:149887879:G:C | donor_gain | 0.4200 |
| 1:149887953:G:GT | donor_gain | 0.4200 |
| 1:149887965:G:GT | donor_gain | 0.4000 |
| 1:149887691:T:TA | donor_gain | 0.3900 |
| 1:149887524:TTAC:T | donor_loss | 0.3600 |
| 1:149887525:TAC:T | donor_loss | 0.3600 |
| 1:149887526:ACTT:A | donor_loss | 0.3600 |
| 1:149887527:C:T | donor_loss | 0.3600 |
| 1:149887628:A:C | donor_gain | 0.3400 |
| 1:149887954:A:T | donor_gain | 0.3400 |
| 1:149887528:T:C | donor_gain | 0.3200 |
| 1:149887725:C:CT | acceptor_gain | 0.3200 |
| 1:149887720:A:T | acceptor_gain | 0.3000 |
| 1:149887527:CTT:C | donor_gain | 0.2900 |
| 1:149887724:C:G | acceptor_gain | 0.2900 |
AlphaMissense
813 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:149887597:C:T | G107D | 1.000 |
| 1:149887598:C:G | G107R | 1.000 |
| 1:149887601:C:G | G106R | 1.000 |
| 1:149887645:T:A | D91V | 1.000 |
| 1:149887645:T:C | D91G | 1.000 |
| 1:149887645:T:G | D91A | 1.000 |
| 1:149887646:C:G | D91H | 1.000 |
| 1:149887657:G:T | A87D | 1.000 |
| 1:149887660:A:G | L86P | 1.000 |
| 1:149887673:G:T | R82S | 1.000 |
| 1:149887681:A:T | I79N | 1.000 |
| 1:149887699:T:A | D73V | 1.000 |
| 1:149887705:G:T | A71D | 1.000 |
| 1:149887706:C:G | A71P | 1.000 |
| 1:149887714:C:A | G68V | 1.000 |
| 1:149887714:C:T | G68D | 1.000 |
| 1:149887715:C:A | G68C | 1.000 |
| 1:149887715:C:G | G68R | 1.000 |
| 1:149887720:A:G | L66P | 1.000 |
| 1:149887724:C:T | E65K | 1.000 |
| 1:149887726:A:G | L64P | 1.000 |
| 1:149887732:T:A | E62V | 1.000 |
| 1:149887736:C:G | A61P | 1.000 |
| 1:149887741:A:G | L59P | 1.000 |
| 1:149887745:A:G | Y58H | 1.000 |
| 1:149887747:T:A | E57V | 1.000 |
| 1:149887784:C:A | G45W | 1.000 |
| 1:149887831:C:T | G29E | 1.000 |
| 1:149887846:A:T | L24H | 1.000 |
| 1:149887570:A:G | L116P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1002658115 (1:149889842 T>C), RS1003013948 (1:149889510 G>A), RS1006397744 (1:149889439 C>T), RS1006450550 (1:149889717 A>G), RS1008980388 (1:149887855 C>T), RS1009859394 (1:149889962 T>C), RS1010919551 (1:149888781 G>A), RS1012800960 (1:149888479 C>T), RS1014554334 (1:149887856 G>A), RS1019184517 (1:149888899 T>C), RS1019322798 (1:149889069 C>T), RS1022220927 (1:149888615 T>C), RS1022273428 (1:149888815 T>C), RS1023521665 (1:149889457 C>G), RS1024103141 (1:149888270 T>A)
Disease associations
OMIM: gene MIM:615014 | 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: yes
ChEMBL targets (1): CHEMBL5724676 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression, decreases reaction, increases abundance | 3 |
| Air Pollutants | decreases expression, increases abundance | 3 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Tretinoin | affects cotreatment, increases expression, decreases expression | 2 |
| Particulate Matter | increases abundance, decreases expression | 2 |
| ginger extract | decreases reaction, increases abundance, increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| polyoxyethyleneamine | decreases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697247 | Binding | Inhibition of HIST2H2BA (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.