H2AC7

Summary

H2AC7 (H2A clustered histone 7, HGNC:4729) is a protein-coding gene on chromosome 6p22.2, encoding Histone H2A type 1-D (P20671). Core component of nucleosome. It is a selective cancer dependency (DepMap: 16.0% of cell lines).

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an 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 lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3.

Source: NCBI Gene 3013 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 29 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 16.0% of screened cell lines
• MANE Select transcript: NM_021065

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4729
Approved symbol	H2AC7
Name	H2A clustered histone 7
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	H2A/g, H2A.3
Ensembl gene	ENSG00000196866
Ensembl biotype	protein_coding
OMIM	602792
Entrez	3013

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000341023

RefSeq mRNA: 1 — MANE Select: NM_021065 NM_021065

CCDS: CCDS4591

Canonical transcript exons

ENST00000341023 — 1 exons

Exon	Start	End
ENSE00001793833	26198784	26199293

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 97.24.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0799 / max 89.9914, expressed in 661 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72325	703.2818	1806
72324	2.0799	661

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	97.24	gold quality
adrenal tissue	UBERON:0018303	90.76	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.50	gold quality
corpus callosum	UBERON:0002336	86.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.55	gold quality
calcaneal tendon	UBERON:0003701	85.12	gold quality
bone marrow	UBERON:0002371	81.14	gold quality
colonic epithelium	UBERON:0000397	73.21	gold quality
lower esophagus mucosa	UBERON:0035834	73.05	gold quality
blood	UBERON:0000178	70.86	gold quality
tonsil	UBERON:0002372	68.40	gold quality
granulocyte	CL:0000094	66.43	gold quality
vagina	UBERON:0000996	59.96	gold quality
ventricular zone	UBERON:0003053	57.45	gold quality
ganglionic eminence	UBERON:0004023	57.15	gold quality
esophagus mucosa	UBERON:0002469	56.49	gold quality
right lung	UBERON:0002167	54.66	gold quality
mucosa of transverse colon	UBERON:0004991	54.22	gold quality
prostate gland	UBERON:0002367	54.09	gold quality
uterine cervix	UBERON:0000002	53.70	gold quality
lung	UBERON:0002048	51.45	gold quality
leukocyte	CL:0000738	50.67	gold quality
liver	UBERON:0002107	50.10	gold quality
monocyte	CL:0000576	48.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	48.46	gold quality
urinary bladder	UBERON:0001255	48.34	gold quality
ectocervix	UBERON:0012249	48.16	gold quality
right uterine tube	UBERON:0001302	47.46	gold quality
kidney	UBERON:0002113	47.43	gold quality
spleen	UBERON:0002106	47.22	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	128.27
E-ANND-3	no	1.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.0% of screened cell lines.

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), H2AC11 (ENSG00000196787), 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-D — P20671 (reviewed: P20671)

Alternative names: Histone H2A.3, Histone H2A/g

All UniProt accessions (1): P20671

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_066409* (*=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 (54 total): modified residue 37, helix 6, cross-link 3, strand 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
7WLP	X-RAY DIFFRACTION	2.29
6KBB	X-RAY DIFFRACTION	2.37
5GT3	X-RAY DIFFRACTION	2.91
8H1T	ELECTRON MICROSCOPY	3
7EA8	ELECTRON MICROSCOPY	3.1
8YJM	X-RAY DIFFRACTION	4.15
8YJF	X-RAY DIFFRACTION	4.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20671-F1	91.19	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 (40): 10, 10, 10, 10, 10, 14, 14, 16, 37, 37, 37, 37, 75, 76, 96, 96, 96, 96, 96, 100 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
2	blocks the inhibition of transcription by rps6ka5/msk1.

Function

Pathways and Gene Ontology

Reactome pathways

55 pathways

ID	Pathway
R-HSA-110328	Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329	Cleavage of the damaged pyrimidine
R-HSA-110330	Recognition and association of DNA glycosylase with site containing an affected purine
R-HSA-110331	Cleavage of the damaged purine
R-HSA-1221632	Meiotic synapsis
R-HSA-171306	Packaging Of Telomere Ends
R-HSA-1912408	Pre-NOTCH Transcription and Translation
R-HSA-201722	Formation of the beta-catenin:TCF transactivating complex
R-HSA-212300	PRC2 methylates histones and DNA
R-HSA-2299718	Condensation of Prophase Chromosomes
R-HSA-2559580	Oxidative Stress Induced Senescence
R-HSA-2559582	Senescence-Associated Secretory Phenotype (SASP)
R-HSA-2559586	DNA Damage/Telomere Stress Induced Senescence
R-HSA-3214815	HDACs deacetylate histones
R-HSA-3214847	HATs acetylate histones
R-HSA-3214858	RMTs methylate histone arginines
R-HSA-427359	SIRT1 negatively regulates rRNA expression
R-HSA-427389	ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-5250924	B-WICH complex positively regulates rRNA expression
R-HSA-5334118	DNA methylation
R-HSA-5578749	Transcriptional regulation by small RNAs
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5625886	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
R-HSA-5689603	UCH proteinases
R-HSA-5689880	Ub-specific processing proteases
R-HSA-5689901	Metalloprotease DUBs
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68616	Assembly of the ORC complex at the origin of replication
R-HSA-73728	RNA Polymerase I Promoter Opening

MSigDB gene sets: 160 (showing top): REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, FISCHER_G1_S_CELL_CYCLE, CAGCTG_AP4_Q5, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, FISCHER_DREAM_TARGETS, REACTOME_DNA_REPAIR, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, DANG_BOUND_BY_MYC, TTTNNANAGCYR_UNKNOWN

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

GO Molecular Function (3): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982)

GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), extracellular exosome (GO:0070062), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Cellular Senescence	3
Chromatin modifying enzymes	3
Depyrimidination	2
Depurination	2
Negative epigenetic regulation of rRNA expression	2
Positive epigenetic regulation of rRNA expression	2
Meiosis	1
Telomere Maintenance	1
Pre-NOTCH Expression and Processing	1
TCF dependent signaling in response to WNT	1
Epigenetic regulation of gene expression	1
Mitotic Prophase	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
protein-DNA complex	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1505 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
H2AC7	H3C1	P02295	538
H2AC7	MYCBP2	O75592	421
H2AC7	H4C16	P02304	397
H2AC7	H2BC21	Q16778	370
H2AC7	CPNE3	O75131	365
H2AC7	UBE2O	Q9C0C9	361
H2AC7	INAFM1	C9JVW0	354
H2AC7	CPNE1	Q99829	350
H2AC7	OR5AC2	Q9NZP5	348
H2AC7	H2BC17	P23527	334
H2AC7	H2BC5	P58876	329
H2AC7	A0A1W2PQS6	A0A1W2PQS6	325
H2AC7	ZNF552	Q9H707	315
H2AC7	ISY1	Q9ULR0	315
H2AC7	OR4K2	Q8NGD2	308

IntAct

60 interactions, top by confidence:

A	B	Type	Score
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
CBX1	KPNA3	psi-mi:“MI:0914”(association)	0.530
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.530
	H2AC7	psi-mi:“MI:0915”(physical association)	0.400
NFATC1	SMARCA5	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
ZC3H18	SAP18	psi-mi:“MI:0914”(association)	0.350
ZC3H18	MACROH2A1	psi-mi:“MI:0914”(association)	0.350
DLST		psi-mi:“MI:0914”(association)	0.350
HSD17B10	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
SDHA	HMGB3	psi-mi:“MI:0914”(association)	0.350
HSD17B10	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
HSD17B10	COPE	psi-mi:“MI:0914”(association)	0.350
SDHA	NME2P1	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
PRKCB	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
ELK4	MYO1C	psi-mi:“MI:0914”(association)	0.350
PRKCB	CHEK1	psi-mi:“MI:0914”(association)	0.350
GSK3A	PRSS37	psi-mi:“MI:0914”(association)	0.350
GSK3B	PRSS37	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (209): HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-MS), HIST1H2AD (Affinity Capture-RNA), HIST1H2AD (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

2 interactions.

A	Effect	B	Mechanism
SLBP	“up-regulates quantity by expression”	H2AC7	“translation regulation”
DZIP3	“up-regulates activity”	H2AC7	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 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
ChAHP complex assembly	5	23.0×	4e-04
B-WICH complex positively regulates rRNA expression	6	18.2×	3e-04
NoRC negatively regulates rRNA expression	5	13.1×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	5	25.5×	7e-04
mRNA splicing, via spliceosome	5	9.2×	9e-03
protein phosphorylation	6	8.2×	6e-03

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	29
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

156 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26198853:A:AC	donor_gain	1.0000
6:26198854:C:CC	donor_gain	1.0000
6:26198820:T:TA	donor_gain	0.9900
6:26198857:GC:G	donor_gain	0.9900
6:26198858:CC:C	donor_gain	0.9900
6:26198854:CTTG:C	donor_gain	0.9500
6:26198963:AGCT:A	donor_gain	0.9500
6:26198964:G:C	donor_gain	0.9500
6:26198966:T:TA	donor_gain	0.9300
6:26198850:TTTAC:T	donor_loss	0.9200
6:26198851:TTACT:T	donor_loss	0.9200
6:26198852:TAC:T	donor_loss	0.9200
6:26198853:AC:A	donor_loss	0.9200
6:26198854:C:T	donor_loss	0.9200
6:26198855:T:TA	donor_loss	0.9200
6:26198856:T:TC	donor_loss	0.9200
6:26198857:GCCCT:G	donor_loss	0.9200
6:26198849:TTTTA:T	donor_loss	0.8600
6:26198950:CAGCA:C	donor_gain	0.8500
6:26198951:AGCAA:A	donor_gain	0.8500
6:26198857:G:GC	donor_gain	0.8400
6:26198858:C:CC	donor_gain	0.8400
6:26198900:ACAG:A	donor_gain	0.8100
6:26198952:G:C	donor_gain	0.7800
6:26198954:A:AT	donor_gain	0.7800
6:26199199:AG:A	donor_gain	0.7800
6:26198947:AC:A	donor_gain	0.7700
6:26198948:CC:C	donor_gain	0.7700
6:26198857:GCC:G	donor_gain	0.7500
6:26198858:CCC:C	donor_gain	0.7500

AlphaMissense

813 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:26198924:C:T	G107D	1.000
6:26198925:C:G	G107R	1.000
6:26198928:C:G	G106R	1.000
6:26198972:T:A	D91V	1.000
6:26198972:T:C	D91G	1.000
6:26198972:T:G	D91A	1.000
6:26198973:C:G	D91H	1.000
6:26198984:G:T	A87D	1.000
6:26198987:A:G	L86P	1.000
6:26199032:G:T	A71D	1.000
6:26199033:C:G	A71P	1.000
6:26199041:C:A	G68V	1.000
6:26199041:C:T	G68D	1.000
6:26199042:C:A	G68C	1.000
6:26199042:C:G	G68R	1.000
6:26199047:A:G	L66P	1.000
6:26199051:C:T	E65K	1.000
6:26199053:A:G	L64P	1.000
6:26199059:T:A	E62V	1.000
6:26199062:G:T	A61D	1.000
6:26199063:C:G	A61P	1.000
6:26199068:A:G	L59P	1.000
6:26199072:A:G	Y58H	1.000
6:26199173:A:T	L24H	1.000
6:26198897:A:T	L116Q	0.999
6:26198909:A:T	I112N	0.999
6:26198915:G:T	P110H	0.999
6:26198924:C:A	G107V	0.999
6:26198925:C:A	G107C	0.999
6:26198925:C:T	G107S	0.999

dbSNP variants (sampled 300 via entrez): RS1001285373 (6:26200351 A>C), RS1001612008 (6:26200208 T>A,C), RS1003050974 (6:26198736 G>A), RS1005162636 (6:26198723 A>G), RS1006103571 (6:26199335 G>A), RS1006575333 (6:26199288 A>G), RS1008584696 (6:26201035 G>A), RS1008740455 (6:26198676 G>C), RS1008937403 (6:26198424 G>A), RS1009853785 (6:26198362 C>T), RS1012024001 (6:26198952 G>A,T), RS1012764841 (6:26199576 G>A,C,T), RS1013189322 (6:26198308 T>C), RS1013197733 (6:26199702 G>A), RS1013440572 (6:26199435 T>A,C,G)

Disease associations

OMIM: gene MIM:602792 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_142	Autism spectrum disorder or schizophrenia	2.000000e-09
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
GCST007294_143	Body fat distribution (trunk fat ratio)	5.000000e-29
GCST007294_82	Body fat distribution (trunk fat ratio)	1.000000e-48
GCST007295_120	Body fat distribution (leg fat ratio)	2.000000e-46
GCST007295_91	Body fat distribution (leg fat ratio)	1.000000e-26
GCST010141_1	Beef consumption	7.000000e-13
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
GCST010143_19	Meat-related diet	5.000000e-13
GCST010143_31	Meat-related diet	7.000000e-09
GCST010143_5	Meat-related diet	4.000000e-09
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724669 (SINGLE PROTEIN)

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
(+)-JQ1 compound	increases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
poly(propyleneimine)	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Vehicle Emissions	decreases expression, decreases reaction	1
Benzo(a)pyrene	increases expression	1
Cisplatin	increases expression, affects cotreatment	1
Dimethyl Sulfoxide	affects expression	1
Hydrogen Peroxide	decreases expression	1
Oxygen	decreases expression	1
Plant Oils	increases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	increases expression	1
Vitamin K 3	affects expression	1
Particulate Matter	decreases expression, decreases reaction	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
CHEMBL5697803	Binding	Inhibition of HIST1H2AD (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.