H2AC1
gene geneOn this page
Also known as bA317E16.2H2AFR
Summary
H2AC1 (H2A clustered histone 1, HGNC:18729) is a protein-coding gene on chromosome 6p22.2, encoding Histone H2A type 1-A (Q96QV6). 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 221613 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 28 total
- MANE Select transcript:
NM_170745
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18729 |
| Approved symbol | H2AC1 |
| Name | H2A clustered histone 1 |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA317E16.2, H2AFR |
| Ensembl gene | ENSG00000164508 |
| Ensembl biotype | protein_coding |
| OMIM | 613499 |
| Entrez | 221613 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay
ENST00000297012, ENST00000703603
RefSeq mRNA: 1 — MANE Select: NM_170745
NM_170745
CCDS: CCDS4562
Canonical transcript exons
ENST00000297012 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003989466 | 25726063 | 25726562 |
Expression profiles
Bgee: expression breadth broad, 18 present calls, max score 92.96.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 11.3607 / max 9088.9113, expressed in 111 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72277 | 11.3607 | 111 |
Top tissues by expression
122 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.96 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.30 | gold quality |
| testis | UBERON:0000473 | 72.58 | gold quality |
| left testis | UBERON:0004533 | 70.24 | gold quality |
| right testis | UBERON:0004534 | 69.65 | gold quality |
| liver | UBERON:0002107 | 40.76 | silver quality |
| right lobe of liver | UBERON:0001114 | 40.05 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 38.11 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| sural nerve | UBERON:0015488 | 36.98 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| kidney | UBERON:0002113 | 35.42 | gold quality |
| right uterine tube | UBERON:0001302 | 34.09 | gold quality |
| body of pancreas | UBERON:0001150 | 33.58 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| cortex of kidney | UBERON:0001225 | 32.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| pancreas | UBERON:0001264 | 31.61 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| metanephros cortex | UBERON:0010533 | 29.25 | gold quality |
| tonsil | UBERON:0002372 | 29.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.04 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.49 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 2)
- Data indicate that formalin-fixed, paraffin-embedded (FFPE) tissue processing may result in persistent chemical modifications of histones, which correspond in mass shift of important post-translational modifications (PTMs). (PMID:27941757)
- Findings show that serine-threonine-tyrosine kinase 1 (NOK) mediates glycolysis and nuclear pyruvate dehydrogenase complex (PDC) associated histone acetylation. (PMID:28410146)
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | H2ac1 | ENSMUSG00000060081 |
| rattus_norvegicus | H2ac1 | ENSRNOG00000065352 |
| 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 |
| caenorhabditis_elegans | WBGENE00019947 |
Paralogs (27): MACROH2A2 (ENSG00000099284), H2AZ2 (ENSG00000105968), MACROH2A1 (ENSG00000113648), H2AZ1 (ENSG00000164032), H2AC6 (ENSG00000180573), H2AC25 (ENSG00000181218), 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 1-A — Q96QV6 (reviewed: Q96QV6)
Alternative names: H2A-clustered histone 1, Histone H2A/r
All UniProt accessions (1): Q96QV6
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_734466* (*=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 (52 total): modified residue 33, helix 6, 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) |
|---|---|---|
| 5GT0 | X-RAY DIFFRACTION | 2.82 |
| 5GSU | X-RAY DIFFRACTION | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96QV6-F1 | 90.82 | 0.79 |
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 (36): 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: 68 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, MEF2_02, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, OCT1_06, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, MEF2_Q6_01, TTTNNANAGCYR_UNKNOWN, CTAWWWATA_RSRFC4_Q2, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOCC_CHROMOSOMAL_REGION, GOCC_PROTEIN_DNA_COMPLEX, MEF2_03, GOCC_CHROMOSOME_TELOMERIC_REGION, RNCTGNYNRNCTGNY_UNKNOWN
GO Biological Process (2): heterochromatin formation (GO:0031507), chromatin organization (GO:0006325)
GO Molecular Function (3): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982)
GO Cellular Component (6): chromosome, telomeric region (GO:0000781), nucleosome (GO:0000786), female germ cell nucleus (GO:0001674), 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 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| protein dimerization activity | 1 |
| chromosomal region | 1 |
| protein-DNA complex | 1 |
| germ cell nucleus | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1300 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H2AC1 | H2BC1 | Q96A08 | 767 |
| H2AC1 | H1-1 | Q02539 | 747 |
| H2AC1 | H1-5 | P16401 | 655 |
| H2AC1 | H2BC21 | Q16778 | 607 |
| H2AC1 | CD4 | P01730 | 602 |
| H2AC1 | CD74 | P04233 | 517 |
| H2AC1 | H1-7 | Q75WM6 | 480 |
| H2AC1 | H1-6 | P22492 | 448 |
| H2AC1 | HLA-DRA | P01903 | 429 |
| H2AC1 | H4C16 | P02304 | 428 |
| H2AC1 | PLBD2 | Q8NHP8 | 410 |
| H2AC1 | RPL12 | P30050 | 410 |
| H2AC1 | PTGDR2 | Q9Y5Y4 | 400 |
| H2AC1 | PFN1 | P07737 | 393 |
| H2AC1 | H2AC19 | P20670 | 385 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RECQL | PARP1 | psi-mi:“MI:0914”(association) | 0.750 |
| EGFR | CTNND1 | psi-mi:“MI:0914”(association) | 0.750 |
| SFMBT1 | H4C16 | psi-mi:“MI:0914”(association) | 0.460 |
| H4C16 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| BRD7 | H2AC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NFKB1 | NFKB1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | HNRNPAB | psi-mi:“MI:0914”(association) | 0.350 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| FN1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| EIF4A3 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| MAGOH | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| UBC | ICP0 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (94): HIST1H2AA (Affinity Capture-MS), HDAC1 (Reconstituted Complex), HDAC2 (Reconstituted Complex), HDAC3 (Reconstituted Complex), HIST1H2AA (Reconstituted Complex), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (Affinity Capture-MS), TLE3 (Protein-peptide), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (Affinity Capture-MS), HIST1H2AA (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” | H2AC1 | “translation regulation” |
| DZIP3 | “up-regulates activity” | H2AC1 | monoubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
112 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:25726415:C:A | donor_gain | 0.9000 |
| 6:25726134:A:AC | donor_gain | 0.8200 |
| 6:25726135:C:CC | donor_gain | 0.8200 |
| 6:25726420:A:AC | donor_gain | 0.8100 |
| 6:25726421:C:CC | donor_gain | 0.8100 |
| 6:25726135:CTTG:C | donor_gain | 0.7900 |
| 6:25726484:G:C | donor_gain | 0.7600 |
| 6:25726482:TAG:T | donor_gain | 0.7500 |
| 6:25726483:AGA:A | donor_gain | 0.7500 |
| 6:25726483:A:AC | donor_gain | 0.7300 |
| 6:25726359:CTA:C | donor_gain | 0.7200 |
| 6:25726421:CGAAG:C | donor_gain | 0.7200 |
| 6:25726138:G:A | donor_gain | 0.7000 |
| 6:25726505:C:CA | donor_gain | 0.7000 |
| 6:25726410:AGTTT:A | donor_gain | 0.6600 |
| 6:25726378:CA:C | donor_gain | 0.6300 |
| 6:25726414:T:A | donor_gain | 0.6300 |
| 6:25726138:G:GC | donor_gain | 0.6200 |
| 6:25726139:C:CC | donor_gain | 0.6200 |
| 6:25726324:G:A | donor_gain | 0.5700 |
| 6:25726458:A:T | donor_gain | 0.5600 |
| 6:25726513:C:A | donor_gain | 0.5500 |
| 6:25726358:TCTAA:T | donor_gain | 0.5400 |
| 6:25726359:CTAAC:C | donor_gain | 0.5400 |
| 6:25726501:T:A | donor_gain | 0.5200 |
| 6:25726425:G:C | donor_gain | 0.4800 |
| 6:25726454:TGCA:T | donor_gain | 0.4800 |
| 6:25726136:T:C | donor_gain | 0.4700 |
| 6:25726250:T:TA | donor_gain | 0.4700 |
| 6:25726321:ATTG:A | donor_gain | 0.4700 |
AlphaMissense
828 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:25726256:T:A | D91V | 1.000 |
| 6:25726271:A:G | L86P | 1.000 |
| 6:25726331:A:G | L66P | 1.000 |
| 6:25726356:A:G | Y58H | 1.000 |
| 6:25726208:C:T | G107E | 0.999 |
| 6:25726209:C:G | G107R | 0.999 |
| 6:25726209:C:T | G107R | 0.999 |
| 6:25726212:C:G | G106R | 0.999 |
| 6:25726247:A:G | L94P | 0.999 |
| 6:25726256:T:C | D91G | 0.999 |
| 6:25726256:T:G | D91A | 0.999 |
| 6:25726257:C:G | D91H | 0.999 |
| 6:25726262:C:G | R89P | 0.999 |
| 6:25726268:G:T | A87E | 0.999 |
| 6:25726284:G:T | R82S | 0.999 |
| 6:25726313:C:G | R72P | 0.999 |
| 6:25726325:C:T | G68D | 0.999 |
| 6:25726326:C:G | G68R | 0.999 |
| 6:25726328:G:T | A67E | 0.999 |
| 6:25726329:C:G | A67P | 0.999 |
| 6:25726334:T:A | E65V | 0.999 |
| 6:25726335:C:T | E65K | 0.999 |
| 6:25726337:A:G | L64P | 0.999 |
| 6:25726343:T:A | E62V | 0.999 |
| 6:25726347:C:G | A61P | 0.999 |
| 6:25726352:A:G | L59P | 0.999 |
| 6:25726358:T:A | E57V | 0.999 |
| 6:25726359:C:T | E57K | 0.999 |
| 6:25726367:G:T | A54E | 0.999 |
| 6:25726394:C:T | G45E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000483009 (6:25726835 A>C,G), RS1001454938 (6:25728030 C>A,T), RS1001893748 (6:25725930 G>A,C), RS1002155579 (6:25727382 A>C,G,T), RS1002647352 (6:25725867 C>T), RS1002664843 (6:25726026 G>A,C), RS1003805674 (6:25728164 AAG>A), RS1005764806 (6:25726955 T>A,C), RS1006907826 (6:25727473 G>A,C), RS1007182920 (6:25727667 G>A), RS1007632076 (6:25726429 A>G), RS1008738577 (6:25727549 A>C,T), RS1009145881 (6:25725966 T>A,G), RS1009686460 (6:25728282 A>C), RS1009935320 (6:25727691 A>G)
Disease associations
OMIM: gene MIM:613499 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002830_1 | Urate levels in lean individuals | 9.000000e-06 |
| GCST003944_7 | Hepcidin/ferritin ratio | 4.000000e-13 |
| GCST004521_169 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004521_83 | Autism spectrum disorder or schizophrenia | 1.000000e-13 |
| GCST004571_21 | Iron status biomarkers (total iron binding capacity) | 4.000000e-14 |
| GCST004572_2 | Iron status biomarkers (transferrin saturation) | 4.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0007901 | hepcidin:ferritin ratio |
| EFO:0006334 | total iron binding capacity |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| sulforaphane | affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Arsenic | decreases methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Copper Sulfate | 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.