H2AC15

Summary

H2AC15 (H2A clustered histone 15, HGNC:4726) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2A type 1 (P0C0S8). Core component of nucleosome. It is a selective cancer dependency (DepMap: 80.8% of cell lines).

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 small histone gene cluster on chromosome 6p22-p21.3.

Source: NCBI Gene 8330 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 31 total
• Cancer dependency (DepMap): dependent in 80.8% of screened cell lines
• MANE Select transcript: NM_003510

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4726
Approved symbol	H2AC15
Name	H2A clustered histone 15
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	H2A/d
Ensembl gene	ENSG00000275221
Ensembl biotype	protein_coding
OMIM	602788
Entrez	8330

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000618958, ENST00000718365

RefSeq mRNA: 1 — MANE Select: NM_003510 NM_003510

CCDS: CCDS4632

Canonical transcript exons

ENST00000618958 — 1 exons

Exon	Start	End
ENSE00004034887	27837880	27838375

Expression profiles

Bgee: expression breadth ubiquitous, 147 present calls, max score 93.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 161.5509 / max 4464.0417, expressed in 1783 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72383	161.5509	1783

Top tissues by expression

152 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	93.63	gold quality
trachea	UBERON:0003126	92.67	gold quality
vastus lateralis	UBERON:0001379	92.52	gold quality
dorsal plus ventral thalamus	UBERON:0001897	91.35	gold quality
quadriceps femoris	UBERON:0001377	90.99	gold quality
dorsal root ganglion	UBERON:0000044	89.74	gold quality
epithelium of bronchus	UBERON:0002031	88.61	gold quality
endometrium epithelium	UBERON:0004811	88.31	gold quality
paraflocculus	UBERON:0005351	87.38	gold quality
middle frontal gyrus	UBERON:0002702	86.59	gold quality
frontal pole	UBERON:0002795	85.31	gold quality
bone marrow cell	CL:0002092	84.77	gold quality
layer of synovial tissue	UBERON:0007616	84.04	gold quality
metanephric glomerulus	UBERON:0004736	83.08	silver quality
cerebellar vermis	UBERON:0004720	81.61	gold quality
thymus	UBERON:0002370	80.59	gold quality
adrenal tissue	UBERON:0018303	76.25	gold quality
bone marrow	UBERON:0002371	72.76	gold quality
Brodmann (1909) area 10	UBERON:0013541	71.85	silver quality
calcaneal tendon	UBERON:0003701	70.67	gold quality
stromal cell of endometrium	CL:0002255	66.75	gold quality
right uterine tube	UBERON:0001302	62.39	gold quality
monocyte	CL:0000576	62.25	gold quality
leukocyte	CL:0000738	60.06	gold quality
popliteal artery	UBERON:0002250	59.56	gold quality
tibial artery	UBERON:0007610	59.41	gold quality
blood	UBERON:0000178	59.06	gold quality
right ovary	UBERON:0002118	57.61	gold quality
left ovary	UBERON:0002119	57.53	gold quality
sural nerve	UBERON:0015488	56.21	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 80.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. (PMID:26647312)

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), H2AC7 (ENSG00000196866), H2AL3 (ENSG00000229674), H2AJ (ENSG00000246705), H2AL1Q (ENSG00000249467), H2AB1 (ENSG00000274183), H2AC12 (ENSG00000274997), 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): A4FTV9, P0C0S8

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_003501* (*=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: 108 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, 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, GOCC_PROTEIN_DNA_COMPLEX, BENPORATH_MYC_MAX_TARGETS, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

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 194 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	16.1×	2e-04
Replacement of protamines by nucleosomes in the male pronucleus	6	13.8×	9e-05
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	13	13.0×	1e-08
Peptide chain elongation	12	12.9×	2e-08
Viral mRNA Translation	12	12.9×	2e-08
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	12	12.8×	2e-08
Transcriptional Regulation by E2F6	5	12.4×	6e-04
Selenocysteine synthesis	12	12.2×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	14	15.2×	4e-10
base-excision repair	5	13.8×	5e-03
heterochromatin formation	7	10.5×	1e-03
negative regulation of translation	7	8.1×	5e-03
nucleosome assembly	9	7.4×	1e-03
translation	12	7.2×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

78 predictions. Top by Δscore:

Variant	Effect	Δscore
6:27838359:G:GG	donor_gain	0.8200
6:27838358:A:AG	donor_gain	0.8100
6:27838340:G:GT	donor_gain	0.7300
6:27838221:T:TA	donor_gain	0.6800
6:27838222:A:AA	donor_gain	0.6800
6:27838295:AG:A	donor_gain	0.6800
6:27837872:TGAAA:T	donor_gain	0.6500
6:27837953:G:A	donor_gain	0.6300
6:27838342:C:G	donor_gain	0.6200
6:27838362:AC:A	donor_gain	0.6200
6:27837879:G:GG	donor_gain	0.6100
6:27838039:CT:C	donor_gain	0.5500
6:27838040:TT:T	donor_gain	0.5500
6:27838041:TT:T	donor_gain	0.5500
6:27838296:G:C	donor_gain	0.5400
6:27838170:TCCAA:T	donor_gain	0.5200
6:27838171:CCAAC:C	donor_gain	0.5200
6:27837878:A:AG	donor_gain	0.5100
6:27838189:ACACC:A	donor_gain	0.5100
6:27837873:GAAAA:G	donor_gain	0.5000
6:27837874:AAAAA:A	donor_gain	0.5000
6:27838340:GAC:G	donor_gain	0.4900
6:27838158:GCGGT:G	donor_gain	0.4700
6:27838343:G:GG	donor_gain	0.4700
6:27838114:T:TA	donor_gain	0.4600
6:27838346:A:AG	donor_gain	0.4400
6:27837947:C:CT	donor_gain	0.3800
6:27837948:T:TT	donor_gain	0.3800
6:27838190:CACCG:C	donor_gain	0.3700
6:27837949:A:AC	donor_gain	0.3500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000325118 (6:27838750 G>A), RS1001599861 (6:27840121 T>G), RS1003218323 (6:27840097 C>A), RS1003529689 (6:27837384 C>G), RS1005311435 (6:27839714 A>G), RS1006814442 (6:27839334 T>C,G), RS1006888623 (6:27838297 C>G,T), RS1007132270 (6:27839641 T>C), RS1009125385 (6:27839068 C>G), RS1009160954 (6:27839297 C>G), RS1011520991 (6:27839279 C>G), RS1012294977 (6:27838499 G>A), RS1012336593 (6:27837420 T>G), RS1012657061 (6:27837769 G>A), RS1013867229 (6:27837823 T>C)

Disease associations

OMIM: gene MIM:602788 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_115	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_116	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_166	Autism spectrum disorder or schizophrenia	4.000000e-24
GCST004521_22	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004521_23	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004521_6	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_73	Autism spectrum disorder or schizophrenia	8.000000e-11
GCST008921_6	Asthma and major depressive disorder	1.000000e-09
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
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

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression	1
bisphenol A	decreases expression	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment	1
deguelin	increases 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	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Antimycin A	increases expression	1
Benzo(a)pyrene	decreases expression	1
Berberine	decreases expression	1
Coumestrol	decreases expression	1
Dimethyl Sulfoxide	affects expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Theophylline	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	increases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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