H2AC11

Summary

H2AC11 (H2A clustered histone 11, HGNC:4737) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2A type 1 (P0C0S8). Core component of nucleosome.

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33.

Source: NCBI Gene 8969 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_021064

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4737
Approved symbol	H2AC11
Name	H2A clustered histone 11
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	pH2A/f, H2A/p, H2A.1b
Ensembl gene	ENSG00000196787
Ensembl biotype	protein_coding
OMIM	615012
Entrez	8969

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000359193, ENST00000715903

RefSeq mRNA: 1 — MANE Select: NM_021064 NM_021064

CCDS: CCDS4619

Canonical transcript exons

ENST00000359193 — 1 exons

Exon	Start	End
ENSE00001420189	27133043	27133535

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 83.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1873.1362 / max 96714.3844, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66541	1873.1362	1814

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	83.90	gold quality
monocyte	CL:0000576	82.80	gold quality
mononuclear cell	CL:0000842	82.35	gold quality
leukocyte	CL:0000738	81.45	gold quality
adrenal tissue	UBERON:0018303	80.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.02	gold quality
amniotic fluid	UBERON:0000173	76.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.62	gold quality
colonic epithelium	UBERON:0000397	72.52	gold quality
jejunal mucosa	UBERON:0000399	71.51	gold quality
ventricular zone	UBERON:0003053	68.99	gold quality
secondary oocyte	CL:0000655	68.17	silver quality
blood	UBERON:0000178	67.01	gold quality
bone marrow	UBERON:0002371	66.01	gold quality
ganglionic eminence	UBERON:0004023	65.92	gold quality
mucosa of transverse colon	UBERON:0004991	65.72	gold quality
granulocyte	CL:0000094	65.70	gold quality
palpebral conjunctiva	UBERON:0001812	65.14	silver quality
stromal cell of endometrium	CL:0002255	65.10	gold quality
right testis	UBERON:0004534	63.64	gold quality
calcaneal tendon	UBERON:0003701	63.57	gold quality
testis	UBERON:0000473	63.17	gold quality
left testis	UBERON:0004533	62.27	gold quality
duodenum	UBERON:0002114	61.69	gold quality
embryo	UBERON:0000922	59.10	gold quality
lymph node	UBERON:0000029	58.35	gold quality
descending thoracic aorta	UBERON:0002345	58.34	gold quality
rectum	UBERON:0001052	57.90	gold quality
jejunum	UBERON:0002115	57.48	silver quality
tonsil	UBERON:0002372	57.21	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.58

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F4, TBP

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
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), H2AC25 (ENSG00000181218), H2AC20 (ENSG00000184260), H2AC21 (ENSG00000184270), H2AX (ENSG00000188486), H2AC13 (ENSG00000196747), 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 — P0C0S8 (reviewed: P0C0S8)

Alternative names: Histone H2A/ptl

All UniProt accessions (2): P0C0S8, A4FTV9

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. Interacts with VRK1; the interaction is mediated by the nucleosome acidic patch, a cluster of negatively charged residues of H2A and H2B forming a cleft within the nucleosome core.

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_066408* (*=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 (63 total): modified residue 36, mutagenesis site 9, helix 6, strand 4, cross-link 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, turn 1

Structure

Experimental structures (PDB)

65 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
4QYL	X-RAY DIFFRACTION	1.8
10YE	ELECTRON MICROSCOPY	2.5
8GUK	ELECTRON MICROSCOPY	2.51
9Y46	ELECTRON MICROSCOPY	2.59
10XZ	ELECTRON MICROSCOPY	2.6
10YA	ELECTRON MICROSCOPY	2.7
10YC	ELECTRON MICROSCOPY	2.7
9Y47	ELECTRON MICROSCOPY	2.74
10YB	ELECTRON MICROSCOPY	2.8
10YD	ELECTRON MICROSCOPY	2.8
7E8D	ELECTRON MICROSCOPY	2.8
8GUJ	ELECTRON MICROSCOPY	2.8
8GUI	ELECTRON MICROSCOPY	2.81
9SI3	ELECTRON MICROSCOPY	2.83
9SJ5	ELECTRON MICROSCOPY	2.85
9SI9	ELECTRON MICROSCOPY	2.86
6X59	ELECTRON MICROSCOPY	2.98
7TAN	ELECTRON MICROSCOPY	3
8VWU	ELECTRON MICROSCOPY	3
9BE6	ELECTRON MICROSCOPY	3
7U51	ELECTRON MICROSCOPY	3.1
8QZM	ELECTRON MICROSCOPY	3.1
8VOB	ELECTRON MICROSCOPY	3.1
8VWS	ELECTRON MICROSCOPY	3.1
9DWF	ELECTRON MICROSCOPY	3.1
9E2Q	ELECTRON MICROSCOPY	3.14
9NQU	ELECTRON MICROSCOPY	3.16
7UV9	ELECTRON MICROSCOPY	3.2
9E0R	ELECTRON MICROSCOPY	3.2
7JO9	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C0S8-F1	91.34	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 (39): 10, 10, 10, 10, 14, 14, 16, 37, 37, 37, 37, 75, 76, 96, 96, 96, 96, 96, 100, 105 …

Mutagenesis-validated functional residues (9):

Position	Phenotype
2	blocks the inhibition of transcription by rps6ka5/msk1.
57	no effect on interaction with vrk1.
62	decreased interaction with vrk1.
65	decreased interaction with vrk1.
73	no effect on interaction with vrk1.
90	no effect on interaction with vrk1.
91	decreased interaction with vrk1.
92	no effect on interaction with vrk1.
93	decreased interaction with vrk1.

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: 126 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, FISCHER_G1_S_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, TGCTGAY_UNKNOWN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, FISCHER_DREAM_TARGETS, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, DANG_BOUND_BY_MYC, TTTNNANAGCYR_UNKNOWN, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, WANG_HCP_PROSTATE_CANCER, GOCC_PROTEIN_DNA_COMPLEX, BENPORATH_MYC_MAX_TARGETS

GO Biological Process (1): heterochromatin formation (GO:0031507)

GO Molecular Function (5): DNA binding (GO:0003677), enzyme binding (GO:0019899), 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
protein 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

0 interactions, top by confidence (×1000):

IntAct

205 interactions, top by confidence:

A	B	Type	Score
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
TP53BP1	H2AC11	psi-mi:“MI:0915”(physical association)	0.670
H2AC11	UBB	psi-mi:“MI:0915”(physical association)	0.650
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640

BioGRID (762): APPBP2 (Two-hybrid), NOTCH2NL (Two-hybrid), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS)

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

9 interactions.

A	Effect	B	Mechanism
RPS6KA5	up-regulates	H2AC11	phosphorylation
RNF8	up-regulates	H2AC11	ubiquitination
BRCC3	down-regulates	H2AC11	deubiquitination
H2AC11	up-regulates	RNF168	binding
BUB1	unknown	H2AC11	phosphorylation
H2AC11	“up-regulates activity”	SGO1	relocalization
SLBP	“up-regulates quantity by expression”	H2AC11	“translation regulation”
DZIP3	“up-regulates activity”	H2AC11	monoubiquitination
TRPM6	“down-regulates activity”	H2AC11	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 193 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
Transport of Mature Transcript to Cytoplasm	5	16.3×	2e-04
Replacement of protamines by nucleosomes in the male pronucleus	6	13.9×	9e-05
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	13	13.1×	1e-08
Peptide chain elongation	12	13.0×	2e-08
Viral mRNA Translation	12	13.0×	2e-08
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	12	12.9×	2e-08
Transcriptional Regulation by E2F6	5	12.5×	6e-04
Selenocysteine synthesis	12	12.3×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	14	15.3×	3e-10
base-excision repair	5	13.8×	6e-03
heterochromatin formation	6	9.1×	9e-03
negative regulation of translation	7	8.1×	6e-03
nucleosome assembly	9	7.5×	1e-03
translation	12	7.3×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

17 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

199 predictions. Top by Δscore:

Variant	Effect	Δscore
6:27133461:G:GG	donor_gain	0.9900
6:27133387:G:GT	donor_gain	0.9700
6:27133411:G:GT	donor_gain	0.9500
6:27133455:GG:G	donor_gain	0.9500
6:27133456:GG:G	donor_gain	0.9500
6:27133765:A:AG	acceptor_gain	0.9500
6:27133766:G:GG	acceptor_gain	0.9500
6:27133388:G:T	donor_gain	0.9400
6:27133766:GA:G	acceptor_gain	0.9300
6:27133761:CCACA:C	acceptor_loss	0.7600
6:27133762:CACAG:C	acceptor_loss	0.7600
6:27133763:AC:A	acceptor_loss	0.7600
6:27133764:CA:C	acceptor_loss	0.7600
6:27133765:A:AT	acceptor_loss	0.7600
6:27133766:GAGC:G	acceptor_gain	0.7600
6:27133757:GTGT:G	acceptor_loss	0.7500
6:27133759:GTCC:G	acceptor_loss	0.7500
6:27133760:TCCA:T	acceptor_loss	0.7500
6:27133758:T:TA	acceptor_loss	0.7400
6:27133457:GCAA:G	donor_gain	0.7300
6:27133755:GTGT:G	acceptor_loss	0.7300
6:27133451:C:T	donor_gain	0.7100
6:27133764:CAG:C	acceptor_gain	0.7100
6:27133765:AGA:A	acceptor_gain	0.7100
6:27133766:GAG:G	acceptor_gain	0.7100
6:27133465:C:G	donor_gain	0.6900
6:27133460:A:G	donor_gain	0.6800
6:27133676:G:GA	donor_gain	0.6300
6:27133766:GAGCA:G	acceptor_gain	0.6300
6:27133675:T:TA	donor_gain	0.6000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000107163 (6:27131958 G>A), RS1001283944 (6:27133597 C>T), RS1001313399 (6:27133468 T>C), RS1005075620 (6:27132276 C>T), RS1006198827 (6:27133752 A>G), RS1006537220 (6:27131999 G>A,C), RS1006766102 (6:27132233 CA>C,CAA), RS1007636723 (6:27131097 T>A,C), RS1007849734 (6:27133891 G>A,T), RS1008207013 (6:27132727 A>G), RS1008298911 (6:27132812 G>A), RS1008424451 (6:27133744 A>G), RS1009103498 (6:27131126 A>G), RS1010032968 (6:27132120 T>C), RS1011781621 (6:27132722 G>A,C,T)

Disease associations

OMIM: gene MIM:615012 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000433_1	Schizophrenia	1.000000e-08
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_116	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_166	Autism spectrum disorder or schizophrenia	4.000000e-24
GCST004521_208	Autism spectrum disorder or schizophrenia	5.000000e-17
GCST004521_215	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_286	Autism spectrum disorder or schizophrenia	5.000000e-08
GCST004521_57	Autism spectrum disorder or schizophrenia	1.000000e-20
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010142_74	Fish- and plant-related diet	9.000000e-09
GCST010142_82	Fish- and plant-related diet	3.000000e-08
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression, increases expression	7
sodium arsenite	decreases expression, increases expression	3
Air Pollutants	decreases expression, increases abundance	3
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	3
Estradiol	decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
sotorasib	increases expression, affects cotreatment	1
bisphenol A	decreases expression	1
methylparaben	decreases expression	1
perfluorooctanoic acid	increases expression	1
ferrous chloride	increases expression	1
versicolorin A	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
dibenzo(a,l)pyrene	increases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	increases expression	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	decreases expression	1
fenpyroximate	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	increases expression	1
pyrimidifen	increases expression	1
thifluzamide	increases expression	1
pyrachlostrobin	increases expression	1
jinfukang	decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.