H2AC18

Summary

H2AC18 (H2A clustered histone 18, HGNC:4736) is a protein-coding gene on chromosome 1q21.2, encoding Histone H2A type 2-A (Q6FI13). 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 a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy.

Source: NCBI Gene 8337 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_003516

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4736
Approved symbol	H2AC18
Name	H2A clustered histone 18
Location	1q21.2
Locus type	gene with protein product
Status	Approved
Aliases	H2A.2, H2A/q
Ensembl gene	ENSG00000288825
Ensembl biotype	protein_coding
OMIM	142720
Entrez	8337

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000369159

RefSeq mRNA: 1 — MANE Select: NM_003516 NM_003516

CCDS: CCDS934

Canonical transcript exons

ENST00000369159 — 1 exons

Exon	Start	End
ENSE00001448930	149842218	149842750

Expression profiles

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 224.2943 / max 8040.2421, expressed in 1815 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5033	224.2943	1815
14254	0.2013	57

Top tissues by expression

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

Single-cell (SCXA)

Detected in 21 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	1320.26
E-HCAD-13	yes	1248.87
E-HCAD-35	yes	507.69
E-MTAB-10290	yes	147.93
E-HCAD-4	yes	84.25
E-CURD-46	yes	44.45
E-MTAB-10287	yes	33.19
E-HCAD-6	yes	32.42
E-MTAB-9221	yes	31.78
E-MTAB-8410	yes	25.68
E-MTAB-6701	yes	16.78
E-MTAB-7316	yes	15.82
E-CURD-122	yes	12.52
E-GEOD-130148	yes	11.22
E-HCAD-10	yes	9.35

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI2, LITAF, MAFK, POU2F1, POU2F2, TBP

Literature-anchored findings (GeneRIF, showing 5)

• Ubiquitin-dependent signaling during the DNA damage response (DDR) to double-strand breaks is initiated by two E3 ligases, RNF8 and RNF168, targeting histone H2A and H2AX. Study shows that ubiquitin chains per se are insufficient for signaling, but RNF168 target ubiquitination is required for DDR damage. (PMID:22980979)
• Histone variant H2A.Z modulates nucleosome dynamics to promote DNA accessibility. (PMID:36765119)
• The HDAC6-RNF168 axis regulates H2A/H2A.X ubiquitination to enable double-strand break repair. (PMID:37503842)
• H2A.Z histone variants facilitate HDACi-dependent removal of H3.3K27M mutant protein in pediatric high-grade glioma cells. (PMID:38306270)
• ANP32e Binds Histone H2A.Z in a Cell Cycle-Dependent Manner and Regulates Its Protein Stability in the Cytoplasm. (PMID:38482865)

Cross-species orthologs

21 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus		ENSRNOG00000062927
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), H2AC15 (ENSG00000275221), H2AC14 (ENSG00000276368), H2AC16 (ENSG00000276903), H2AC8 (ENSG00000277075), H2AB3 (ENSG00000277745), H2AB2 (ENSG00000277858), H2AC4 (ENSG00000278463), H2AC17 (ENSG00000278677), H2AC19 (ENSG00000288859)

Protein

Protein identifiers

Histone H2A type 2-A — Q6FI13 (reviewed: Q6FI13)

Alternative names: H2A-clustered histone 18, H2A-clustered histone 19, Histone H2A.2, Histone H2A/o

All UniProt accessions (1): Q6FI13

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_003507* (*=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 (55 total): modified residue 37, helix 6, cross-link 3, strand 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

20 structures.

PDB	Method	Resolution (Å)
9D3P	ELECTRON MICROSCOPY	2.5
9FGQ	ELECTRON MICROSCOPY	2.5
9D3K	ELECTRON MICROSCOPY	2.7
9D3L	ELECTRON MICROSCOPY	2.8
9D3Q	ELECTRON MICROSCOPY	2.8
9D3T	ELECTRON MICROSCOPY	2.8
9GMR	ELECTRON MICROSCOPY	2.8
9D3M	ELECTRON MICROSCOPY	2.9
9D3N	ELECTRON MICROSCOPY	3
9D3O	ELECTRON MICROSCOPY	3
6SEG	ELECTRON MICROSCOPY	3.1
9D3S	ELECTRON MICROSCOPY	3.1
9D3R	ELECTRON MICROSCOPY	3.3
6SE6	ELECTRON MICROSCOPY	3.5
9GMK	ELECTRON MICROSCOPY	3.5
6SEF	ELECTRON MICROSCOPY	3.7
6SE0	ELECTRON MICROSCOPY	3.8
7JZV	ELECTRON MICROSCOPY	3.9
6Y5D	ELECTRON MICROSCOPY	4.1
6SEE	ELECTRON MICROSCOPY	4.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6FI13-F1	91.23	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: 245 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, KOBAYASHI_EGFR_SIGNALING_24HR_UP, JI_RESPONSE_TO_FSH_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, BASSO_B_LYMPHOCYTE_NETWORK, DAZARD_UV_RESPONSE_CLUSTER_G4, HSIAO_HOUSEKEEPING_GENES, BROWNE_HCMV_INFECTION_16HR_UP, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP

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

GO Molecular Function (4): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

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

Reactome top-level categories

Rollup of top-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
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

80 interactions, top by confidence:

A	B	Type	Score
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
EPN1	PHGDH	psi-mi:“MI:0914”(association)	0.710
H2AC18	SMARCB1	psi-mi:“MI:0915”(physical association)	0.580
H2AC18	H2BC15	psi-mi:“MI:0915”(physical association)	0.560
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
MAP4K4	STRN	psi-mi:“MI:0914”(association)	0.530
H2AC18	PPM1G	psi-mi:“MI:0914”(association)	0.530
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.530
SMARCB1	H3C1	psi-mi:“MI:0914”(association)	0.500
FNBP1	FNBP1L	psi-mi:“MI:0914”(association)	0.500
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
LANA1	H2AC18	psi-mi:“MI:0915”(physical association)	0.400
GEMIN5	PFDN1	psi-mi:“MI:0914”(association)	0.350
CHD1L	H2BC12	psi-mi:“MI:0914”(association)	0.350
PDHA1		psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
HMGB1	SMARCA5	psi-mi:“MI:0914”(association)	0.350
G3BP1	HAT1	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
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (329): HIST2H2AA3 (Biochemical Activity), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA4 (Affinity Capture-MS), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA4 (Affinity Capture-MS), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA3 (Biochemical Activity), HIST2H2AA3 (Reconstituted Complex), HIST2H2AA4 (Proximity Label-MS), HIST2H2AA4 (Proximity Label-MS), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA3 (Affinity Capture-MS), HIST2H2AA3 (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”	H2AC18	“translation regulation”
DZIP3	“up-regulates activity”	H2AC18	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 95 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
Deposition of new CENPA-containing nucleosomes at the centromere	7	16.6×	2e-05
RNA Polymerase I Promoter Opening	6	16.5×	6e-05
ChAHP complex assembly	6	16.5×	6e-05
Packaging Of Telomere Ends	5	16.4×	2e-04
Defective pyroptosis	7	16.3×	2e-05
B-WICH complex positively regulates rRNA expression	9	16.3×	2e-06
DNA methylation	6	16.0×	6e-05
PRC2 methylates histones and DNA	7	15.9×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	5	15.4×	5e-03
nucleosome assembly	7	11.8×	8e-04
endocytosis	7	8.0×	5e-03
chromatin remodeling	9	7.9×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

36 predictions. Top by Δscore:

Variant	Effect	Δscore
1:149842530:CGAGG:C	donor_gain	0.7200
1:149842712:G:C	donor_gain	0.7200
1:149842312:G:A	donor_gain	0.6500
1:149842611:G:A	donor_gain	0.5600
1:149842585:G:A	donor_gain	0.4800
1:149842334:T:A	donor_gain	0.4600
1:149842473:T:TA	donor_gain	0.4500
1:149842581:AGTTG:A	donor_gain	0.4500
1:149842692:C:CT	acceptor_gain	0.4200
1:149842421:T:A	donor_gain	0.3900
1:149842731:G:A	donor_gain	0.3200
1:149842672:G:A	donor_gain	0.3100
1:149842319:G:A	donor_gain	0.3000
1:149842614:C:T	donor_gain	0.3000
1:149842619:G:T	donor_gain	0.3000
1:149842355:ACGG:A	donor_gain	0.2800
1:149842356:CGGC:C	donor_gain	0.2800
1:149842529:TCGAG:T	donor_gain	0.2800
1:149842358:G:GA	donor_gain	0.2700
1:149842382:C:CA	donor_gain	0.2600
1:149842612:C:A	donor_gain	0.2600
1:149842675:T:TA	donor_gain	0.2500
1:149842308:A:AC	donor_gain	0.2400
1:149842309:C:CC	donor_gain	0.2400
1:149842312:GC:G	donor_gain	0.2400
1:149842312:GCCCT:G	donor_gain	0.2400
1:149842313:CC:C	donor_gain	0.2400
1:149842615:T:TT	donor_gain	0.2400
1:149842686:C:CT	acceptor_gain	0.2400
1:149842313:CCCTT:C	donor_gain	0.2300

AlphaMissense

820 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1007920943 (1:149844530 A>G,T), RS1008923766 (1:149843539 T>A), RS1011724730 (1:149844454 T>C,G), RS1013129127 (1:149843932 A>G), RS1014933455 (1:149843543 C>A,G,T), RS1014984216 (1:149843671 C>G,T), RS1019289406 (1:149844545 A>G), RS1027919783 (1:149843711 C>A,G,T), RS1028051080 (1:149843910 A>C,G), RS1028284854 (1:149843572 G>A,C,T), RS1029093700 (1:149843519 C>A,G,T), RS1032252679 (1:149844195 A>G), RS1036853761 (1:149844099 C>T), RS1045688137 (1:149844381 C>T), RS1045975486 (1:149844164 C>G,T)

Disease associations

OMIM: gene MIM:142720 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	2
Acetaminophen	increases expression	2
Benzo(a)pyrene	increases expression	2
Hydrogen Peroxide	affects expression, affects cotreatment, decreases expression	2
Valproic Acid	decreases methylation, increases expression	2
methylselenic acid	decreases expression	1
hydroxyhydroquinone	increases expression	1
sodium arsenite	affects binding, increases reaction	1
periodate-oxidized adenosine	affects expression	1
nickel sulfate	increases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1
tamibarotene	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
Decitabine	increases expression	1
Zoledronic Acid	increases expression	1
Troglitazone	increases expression	1
Air Pollutants	decreases expression	1
Allergens	decreases abundance, decreases reaction, affects cotreatment, increases abundance, increases expression	1
Vehicle Emissions	decreases abundance, decreases reaction, increases expression, affects cotreatment, increases abundance	1
Benzene	decreases expression	1
Berberine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Diazinon	decreases methylation	1
Doxorubicin	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Lipopolysaccharides	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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