H2BC12L

Summary

H2BC12L (H2B clustered histone 12 like, HGNC:4762) is a protein-coding gene on chromosome 21q22.3, encoding Histone H2B type F-S (P57053). Core component of nucleosome.

Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and innate immune response in mucosa. Located in cytosol; extracellular space; and nucleoplasm.

Source: NCBI Gene 54145 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_017445

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4762
Approved symbol	H2BC12L
Name	H2B clustered histone 12 like
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000234289
Ensembl biotype	protein_coding
Entrez	54145

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000599962

RefSeq mRNA: 1 — MANE Select: NM_017445 NM_017445

Canonical transcript exons

ENST00000599962 — 1 exons

Exon	Start	End
ENSE00003082382	43565182	43565648

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 86.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.8753 / max 1142.8905, expressed in 1775 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189368	40.0905	1770
189369	0.7848	385

Top tissues by expression

100 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	86.94	gold quality
bone marrow cell	CL:0002092	39.93	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	36.29	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	33.67	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
lymph node	UBERON:0000029	29.63	gold quality
liver	UBERON:0002107	28.85	gold quality
duodenum	UBERON:0002114	28.14	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.87	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.34	silver quality
blood	UBERON:0000178	26.28	gold quality
monocyte	CL:0000576	26.22	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
calcaneal tendon	UBERON:0003701	24.79	gold quality
tibial nerve	UBERON:0001323	24.75	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
kidney	UBERON:0002113	24.00	gold quality
right lobe of liver	UBERON:0001114	23.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.80

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The H2BFS promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)

Cross-species orthologs

0 orthologs

Paralogs (21): H2BW2 (ENSG00000101812), H2BW1 (ENSG00000123569), H2BC11 (ENSG00000124635), H2BC1 (ENSG00000146047), H2BC5 (ENSG00000158373), H2BC4 (ENSG00000180596), H2BC21 (ENSG00000184678), H2BC13 (ENSG00000185130), H2BC26 (ENSG00000196890), H2BC12 (ENSG00000197903), H2BC18 (ENSG00000203814), H2BC15 (ENSG00000233822), H2BC14 (ENSG00000273703), H2BC8 (ENSG00000273802), H2BC6 (ENSG00000274290), H2BC17 (ENSG00000274641), H2BC9 (ENSG00000275713), H2BC3 (ENSG00000276410), H2BC7 (ENSG00000277224), H2BC10 (ENSG00000278588), H2BK1 (ENSG00000285480)

Protein

Protein identifiers

Histone H2B type F-S — P57053 (reviewed: P57053)

Alternative names: H2B-clustered histone 12 like, H2B.S histone 1, Histone H2B.s

All UniProt accessions (1): P57053

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. Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.

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. Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 ‘Lys-4’ (H3K4me) and ‘Lys-79’ (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 ‘Lys-4’ and ‘Lys-79’ methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons. Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription. Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination. GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes. ADP-ribosylated by PARP1 or PARP2 on Ser-7 (H2BS6ADPr) in response to DNA damage. H2BS6ADPr promotes recruitment of CHD1L. Mono-ADP-ribosylated on Glu-3 (H2BE2ADPr) by PARP3 in response to single-strand breaks. Poly ADP-ribosylation on Glu-36 (H2BE35ADPr) by PARP1 regulates adipogenesis: it inhibits phosphorylation at Ser-37 (H2BS36ph), thereby blocking expression of pro-adipogenetic genes. 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 H2B family.

RefSeq proteins (1): NP_059141* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000558	Histone_H2B	Family
IPR007125	H2A/H2B/H3	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR055333	HISTONE_H2B_site	Conserved_site

Pfam: PF00125

UniProt features (99 total): modified residue 90, cross-link 4, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57053-F1	85.93	0.63

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 (94): 6, 6, 6, 6, 7, 12, 12, 12, 12, 12, 12, 13, 13, 13, 15, 16, 16, 16, 16, 17 …

Glycosylation sites (1): 113

Function

Pathways and Gene Ontology

Reactome pathways

51 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-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-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571	Nonhomologous End-Joining (NHEJ)
R-HSA-5693607	Processing of DNA double-strand break ends
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-69473	G2/M DNA damage checkpoint
R-HSA-73728	RNA Polymerase I Promoter Opening
R-HSA-73772	RNA Polymerase I Promoter Escape
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

MSigDB gene sets: 163 (showing top): REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_NEURAL_NUCLEUS_DEVELOPMENT, GOBP_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GOBP_SUBSTANTIA_NIGRA_DEVELOPMENT

GO Biological Process (6): innate immune response in mucosa (GO:0002227), antibacterial humoral response (GO:0019731), substantia nigra development (GO:0021762), defense response to Gram-positive bacterium (GO:0050830), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), defense response to bacterium (GO:0042742)

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

GO Cellular Component (6): nucleosome (GO:0000786), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Cellular Senescence	3
Depyrimidination	2
Depurination	2
Epigenetic regulation of gene expression	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
Mitotic Prophase	1
Gene Silencing by RNA	1
Activation of HOX genes during differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
antimicrobial humoral response	2
defense response to bacterium	2
chromatin	2
cellular anatomical structure	2
mucosal immune response	1
innate immune response	1
midbrain development	1
neural nucleus development	1
defense response	1
response to bacterium	1
nucleic acid binding	1
structural molecule activity	1
protein dimerization activity	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
H2BC12L	PLG	P00747	874
H2BC12L	RNF20	Q5VTR2	843
H2BC12L	H3C1	P02295	815
H2BC12L	H3C14	Q71DI3	814
H2BC12L	H3-5	Q6NXT2	814
H2BC12L	H3-4	Q16695	814
H2BC12L	H3-7	Q5TEC6	814
H2BC12L	H3-3A	P06351	812
H2BC12L	RNF40	O75150	772
H2BC12L	H4C7	Q99525	745
H2BC12L	H4C16	P02304	742
H2BC12L	H2AC19	P20670	734
H2BC12L	H2AC20	Q16777	732
H2BC12L	USP22	Q9UPT9	728
H2BC12L	DET1	Q7L5Y6	727

IntAct

81 interactions, top by confidence:

A	B	Type	Score
MAPK7	PFDN6	psi-mi:“MI:0914”(association)	0.640
GRB2	ARHGEF35	psi-mi:“MI:0914”(association)	0.530
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
RGS2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
HMGN2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
PLAGL2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
DLGAP4	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
H2AZ1	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
H2AZ2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
RPL23A	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
FAIM	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	CHD2	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	UBA52	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	HMGN3	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	HMGA1	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	HMGN1	psi-mi:“MI:0915”(physical association)	0.400
ZNF653	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	H4C16	psi-mi:“MI:0915”(physical association)	0.400
BDNF	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
MTG1	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
SHOC2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
ESYT3	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
H2AC4	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
MLLT6	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
KIF22	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
CDH19	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
MORN1	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
CEP290	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
IYD	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
PDCD4	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (314): LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Affinity Capture-MS), LOC102724334 (Proximity Label-MS), LOC102724334 (Proximity Label-MS), LOC102724334 (Proximity Label-MS), LOC102724334 (Proximity Label-MS), LOC102724334 (Proximity Label-MS)

ESM2 similar proteins: A0A2R8Y619, O97484, P02284, P02285, P02286, P02287, P02288, P04255, P04913, P07794, P07795, P0C1H4, P16888, P16889, P16890, P19374, P21897, P23527, P27326, P30757, P33778, P35067, P35068, P35069, P48557, P57053, P62807, P62808, P70696, P83863, Q00715, Q00729, Q16778, Q27894, Q32L48, Q5QNW6, Q5R893, Q5RCP8, Q64475, Q64478

Diamond homologs: A0A2R8Y619, A2WKT1, A2WKT4, A2WWU2, A2XF66, A2YWI3, A3AGM4, O22582, O60814, O65819, P02281, P02283, P02284, P02285, P02286, P02287, P02288, P02289, P02290, P04255, P06145, P06899, P06900, P07794, P07795, P0C1H3, P0C1H4, P0C1H5, P10853, P10854, P14001, P16888, P16889, P16890, P17271, P19374, P21897, P23527, P27326, P27807

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SLBP	“up-regulates quantity by expression”	H2BS1	“translation regulation”
“MSL acetyltransferase”	“down-regulates activity”	H2BS1	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 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
Packaging Of Telomere Ends	6	23.1×	3e-05
Recognition and association of DNA glycosylase with site containing an affected purine	6	21.5×	3e-05
Cleavage of the damaged purine	6	21.5×	3e-05
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	6	19.4×	3e-05
Cleavage of the damaged pyrimidine	6	19.4×	3e-05
RNA Polymerase I Promoter Opening	6	19.4×	3e-05
ChAHP complex assembly	6	19.4×	3e-05
Condensation of Prophase Chromosomes	7	19.2×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	6	19.9×	2e-04
chromatin organization	11	14.2×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

105 predictions. Top by Δscore:

Variant	Effect	Δscore
21:43565188:T:TA	donor_gain	0.9900
21:43565189:C:A	donor_gain	0.9900
21:43565642:GCTCC:G	acceptor_gain	0.9700
21:43565643:CTCCT:C	acceptor_gain	0.9600
21:43565182:A:AC	donor_gain	0.9300
21:43565185:A:AC	donor_gain	0.9200
21:43565186:C:CC	donor_gain	0.9200
21:43565185:ACTTC:A	donor_gain	0.8800
21:43565186:CTTCC:C	donor_gain	0.8800
21:43565372:TGCTG:T	donor_gain	0.8800
21:43565642:GCTC:G	acceptor_gain	0.8500
21:43565643:CTCC:C	acceptor_gain	0.8500
21:43565644:TCCT:T	acceptor_gain	0.8500
21:43565187:T:C	donor_gain	0.8400
21:43565646:C:CC	acceptor_gain	0.8100
21:43565185:ACTT:A	donor_gain	0.8000
21:43565186:CTTC:C	donor_gain	0.8000
21:43565641:AGCTC:A	acceptor_gain	0.8000
21:43565646:C:CG	acceptor_loss	0.8000
21:43565647:T:A	acceptor_loss	0.8000
21:43565322:G:GT	donor_gain	0.7900
21:43565643:CTC:C	acceptor_gain	0.7700
21:43565373:GCTGA:G	donor_gain	0.7500
21:43565460:CGCAG:C	donor_loss	0.7100
21:43565462:CAGGT:C	donor_loss	0.7100
21:43565463:AGGT:A	donor_loss	0.7100
21:43565464:GGTG:G	donor_loss	0.7100
21:43565465:G:GC	donor_loss	0.7100
21:43565466:T:A	donor_loss	0.7100
21:43565199:CGAT:C	donor_gain	0.6800

AlphaMissense

813 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:43565581:G:C	G115R	0.997
21:43565589:G:C	K117N	0.995
21:43565589:G:T	K117N	0.995
21:43565516:G:T	R93M	0.994
21:43565540:T:C	L101P	0.994
21:43565558:T:C	L107S	0.994
21:43565570:C:A	A111D	0.994
21:43565581:G:T	G115C	0.994
21:43565526:G:C	Q96H	0.993
21:43565526:G:T	Q96H	0.993
21:43565552:G:A	G105E	0.993
21:43565582:G:A	G115D	0.993
21:43565551:G:T	G105W	0.992
21:43565552:G:T	G105V	0.992
21:43565565:G:C	K109N	0.992
21:43565565:G:T	K109N	0.992
21:43565444:A:T	D69V	0.991
21:43565582:G:T	G115V	0.991
21:43565590:G:C	A118P	0.991
21:43565531:C:A	A98D	0.990
21:43565536:C:A	R100S	0.990
21:43565569:G:C	A111P	0.990
21:43565517:G:C	R93S	0.989
21:43565517:G:T	R93S	0.989
21:43565530:G:C	A98P	0.989
21:43565568:C:A	H110Q	0.989
21:43565568:C:G	H110Q	0.989
21:43565431:T:C	S65P	0.988
21:43565561:C:A	A108D	0.988
21:43565585:C:T	T116I	0.988

dbSNP variants (sampled 300 via entrez): RS1002061429 (21:43564771 C>T), RS1004617706 (21:43565871 T>C), RS1018009340 (21:43564047 C>A), RS112238814 (21:43565316 C>T), RS112305601 (21:43565604 C>G,T), RS112330302 (21:43563899 C>T), RS112493576 (21:43565489 A>G), RS112730077 (21:43564465 C>A), RS113294006 (21:43565551 G>A), RS113456937 (21:43565266 G>A), RS113512615 (21:43563650 A>C), RS114196212 (21:43564253 G>A), RS116681800 (21:43563851 G>A), RS1169034750 (21:43563802 C>G), RS116993335 (21:43565070 A>G)

Disease associations

OMIM: gene `` | 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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	decreases expression, affects cotreatment	3
Valproic Acid	decreases expression, increases expression	3
methylmercuric chloride	increases expression	1
bisphenol A	decreases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	increases expression, affects binding	1
(+)-JQ1 compound	increases expression	1
Troglitazone	increases expression	1
Acetaminophen	increases expression	1
Copper	affects binding, increases expression	1
Demecolcine	increases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Progesterone	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
Vincristine	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Isotretinoin	decreases expression	1
Copper Sulfate	increases expression, decreases expression	1
Vitamin K 3	affects expression	1
Nanotubes, Carbon	affects expression	1

Clinical trials (associated diseases)

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