H2BC9

Summary

H2BC9 (H2B clustered histone 9, HGNC:4755) is a protein-coding gene on chromosome 6p22.2, encoding Histone H2B type 1-H (Q93079). Core component of nucleosome. It is a selective cancer dependency (DepMap: 28.4% 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 H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6.

Source: NCBI Gene 8345 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 21 total
• Cancer dependency (DepMap): dependent in 28.4% of screened cell lines
• MANE Select transcript: NM_003524

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4755
Approved symbol	H2BC9
Name	H2B clustered histone 9
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	H2B/j
Ensembl gene	ENSG00000275713
Ensembl biotype	protein_coding
OMIM	602806
Entrez	8345

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000619466

RefSeq mRNA: 1 — MANE Select: NM_003524 NM_003524

CCDS: CCDS4601

Canonical transcript exons

ENST00000619466 — 1 exons

Exon	Start	End
ENSE00003721972	26251614	26252075

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 82.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 298.3629 / max 4694.4179, expressed in 1655 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66499	298.3629	1655

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	82.60	gold quality
monocyte	CL:0000576	80.88	gold quality
adrenal tissue	UBERON:0018303	80.54	gold quality
mononuclear cell	CL:0000842	80.37	gold quality
leukocyte	CL:0000738	79.27	gold quality
lower esophagus mucosa	UBERON:0035834	79.23	gold quality
bone marrow	UBERON:0002371	78.84	gold quality
jejunal mucosa	UBERON:0000399	78.72	gold quality
mucosa of transverse colon	UBERON:0004991	77.81	gold quality
heart right ventricle	UBERON:0002080	76.86	silver quality
thymus	UBERON:0002370	76.27	gold quality
colonic mucosa	UBERON:0000317	72.97	gold quality
bronchial epithelial cell	CL:0002328	72.78	gold quality
embryo	UBERON:0000922	72.25	gold quality
cartilage tissue	UBERON:0002418	71.67	gold quality
mucosa of sigmoid colon	UBERON:0004993	71.52	gold quality
right uterine tube	UBERON:0001302	70.56	gold quality
secondary oocyte	CL:0000655	70.46	gold quality
ventricular zone	UBERON:0003053	70.19	gold quality
oral cavity	UBERON:0000167	69.97	gold quality
oocyte	CL:0000023	69.91	gold quality
decidua	UBERON:0002450	69.83	silver quality
blood	UBERON:0000178	69.81	gold quality
granulocyte	CL:0000094	69.66	gold quality
corpus epididymis	UBERON:0004359	69.52	gold quality
amniotic fluid	UBERON:0000173	69.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	68.94	silver quality
epithelium of bronchus	UBERON:0002031	68.91	gold quality
trabecular bone tissue	UBERON:0002483	68.91	silver quality
bronchus	UBERON:0002185	68.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.91

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 28.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Identification of HIST1H2BH as the hub gene associated with multiple myeloma using integrated bioinformatics analysis. (PMID:38568025)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Hist2h2be	ENSRNOG00000070916

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), H2BC12L (ENSG00000234289), H2BC14 (ENSG00000273703), H2BC8 (ENSG00000273802), H2BC6 (ENSG00000274290), H2BC17 (ENSG00000274641), H2BC3 (ENSG00000276410), H2BC7 (ENSG00000277224), H2BC10 (ENSG00000278588), H2BK1 (ENSG00000285480)

Protein

Protein identifiers

Histone H2B type 1-H — Q93079 (reviewed: Q93079)

Alternative names: H2B-clustered histone 9, Histone H2B.j

All UniProt accessions (1): Q93079

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. Found in a complex with PPAR9; DTX3L AND STAT1; the interaction is likely to induce DTX3L-mediated ubiquitination of H2BC9/H2BJ.

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. Monoubiquitinated by DTX3L upon encephalomyocarditis virus (EMCV)-mediated infection. 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. 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_003515* (*=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 (108 total): modified residue 90, helix 6, cross-link 4, turn 2, initiator methionine 1, chain 1, strand 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8OL1	ELECTRON MICROSCOPY	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q93079-F1	87.82	0.67

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, 7, 12, 12, 12, 12, 12, 12, 13, 13, 13, 15, 16, 16, 16, 16, 17, 17 …

Glycosylation sites (1): 113

Function

Pathways and Gene Ontology

Reactome pathways

58 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-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-5689880	Ub-specific processing proteases
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

MSigDB gene sets: 234 (showing top): REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GOBP_HUMORAL_IMMUNE_RESPONSE, FISCHER_DREAM_TARGETS

GO Biological Process (1): nucleosome assembly (GO:0006334)

GO Molecular Function (7): DNA binding (GO:0003677), enzyme binding (GO:0019899), structural constituent of chromatin (GO:0030527), ubiquitin-like protein ligase binding (GO:0044389), protein heterodimerization activity (GO:0046982), STAT family protein binding (GO:0097677), protein binding (GO:0005515)

GO Cellular Component (7): nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), protein-containing complex (GO:0032991), extracellular exosome (GO:0070062), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Cellular Senescence	3
Depyrimidination	2
Depurination	2
Epigenetic regulation of gene expression	2
Chromatin modifying enzymes	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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chromatin	2
cellular anatomical structure	2
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
nucleic acid binding	1
protein binding	1
structural molecule activity	1
enzyme binding	1
protein dimerization activity	1
RNA polymerase II-specific DNA-binding transcription factor binding	1
binding	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
cellular_component	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
H2BC9	PLG	P00747	867
H2BC9	RNF20	Q5VTR2	843
H2BC9	H3C1	P02295	816
H2BC9	H3C14	Q71DI3	810
H2BC9	H3-5	Q6NXT2	810
H2BC9	H3-4	Q16695	810
H2BC9	H3-7	Q5TEC6	810
H2BC9	H3-3A	P06351	809
H2BC9	RNF40	O75150	772
H2BC9	H4C16	P02304	746
H2BC9	H4C7	Q99525	746
H2BC9	H2AC19	P20670	736
H2BC9	H2AC20	Q16777	734
H2BC9	USP22	Q9UPT9	727
H2BC9	DET1	Q7L5Y6	727

IntAct

326 interactions, top by confidence:

A	B	Type	Score
H2BC9	KLRC4	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	CACNA2D1	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	GALR1	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	EDN1	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	HNRNPK	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	CCDC71	psi-mi:“MI:0915”(physical association)	0.400
H1-5	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H1-2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H1-1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
HMGN2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
DLGAP4	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H2AZ1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
GPATCH8	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
UTP3	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
CC2D1A	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H2AZ2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
NOP2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
TOP2A	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
REEP2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
RAI1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
ECHDC1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
RPL23A	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H2AX	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	H3-4	psi-mi:“MI:0915”(physical association)	0.400
CCDC172	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
XIRP2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
FGFBP2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
FAIM	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
TMEM196	H2BC9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (694): HIST1H2BH (Two-hybrid), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-RNA), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Affinity Capture-MS), HIST1H2BH (Two-hybrid), HIST1H2BH (Affinity Capture-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”	H2BC9	“translation regulation”
“MSL acetyltransferase”	“down-regulates activity”	H2BC9	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 198 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
Formation of Senescence-Associated Heterochromatin Foci (SAHF)	6	30.3×	3e-06
Packaging Of Telomere Ends	9	14.9×	3e-06
Recognition and association of DNA glycosylase with site containing an affected purine	9	13.8×	3e-06
Cleavage of the damaged purine	9	13.8×	3e-06
Metalloprotease DUBs	6	13.6×	8e-05
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	9	12.5×	3e-06
Cleavage of the damaged pyrimidine	9	12.5×	3e-06
ChAHP complex assembly	9	12.5×	3e-06

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of DNA recombination	7	43.0×	9e-08
chromosome condensation	6	27.6×	1e-05
heterochromatin formation	9	12.6×	1e-05
nucleosome assembly	12	9.2×	4e-06
chromatin organization	13	7.0×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26251993:GGCAC:G	donor_gain	0.7100
6:26252006:TCACC:T	donor_gain	0.5000
6:26251784:TGCTG:T	donor_gain	0.3300
6:26252035:G:GT	donor_gain	0.2900

AlphaMissense

815 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:26251787:T:C	L46P	1.000
6:26251856:A:T	D69V	1.000
6:26251874:C:A	A75D	1.000
6:26251882:G:C	A78P	1.000
6:26251883:C:A	A78D	1.000
6:26251928:G:T	R93M	1.000
6:26251929:G:C	R93S	1.000
6:26251929:G:T	R93S	1.000
6:26251930:G:A	E94K	1.000
6:26251938:G:C	Q96H	1.000
6:26251938:G:T	Q96H	1.000
6:26251942:G:C	A98P	1.000
6:26251943:C:A	A98D	1.000
6:26251952:T:C	L101P	1.000
6:26251963:G:T	G105W	1.000
6:26251964:G:A	G105E	1.000
6:26251970:T:A	L107Q	1.000
6:26251970:T:C	L107P	1.000
6:26251978:C:G	H110D	1.000
6:26251980:C:A	H110Q	1.000
6:26251980:C:G	H110Q	1.000
6:26251982:C:A	A111D	1.000
6:26251993:G:C	G115R	1.000
6:26251993:G:T	G115C	1.000
6:26251994:G:A	G115D	1.000
6:26252001:G:C	K117N	1.000
6:26252001:G:T	K117N	1.000
6:26252002:G:C	A118P	1.000
6:26251775:T:A	V42D	0.999
6:26251791:G:C	K47N	0.999

dbSNP variants (sampled 300 via entrez): RS1000465845 (6:26249769 C>T), RS1000601191 (6:26249935 A>G), RS1001532143 (6:26250701 A>T), RS1001720064 (6:26252297 C>T), RS1005553179 (6:26252320 G>A), RS1005648710 (6:26252540 G>A,C), RS1007473620 (6:26250747 T>A,G), RS1007855176 (6:26249862 T>C), RS1008594290 (6:26252556 T>C), RS1009216667 (6:26249836 C>A,T), RS1009493625 (6:26251659 T>A,C), RS1010222020 (6:26251129 G>A), RS1010505403 (6:26250890 G>A), RS1012406026 (6:26249754 C>A,G,T), RS1014360288 (6:26250658 C>T)

Disease associations

OMIM: gene MIM:602806 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST004063_50	Waist circumference adjusted for body mass index	2.000000e-15
GCST004063_67	Waist circumference adjusted for body mass index	1.000000e-06
GCST004063_73	Waist circumference adjusted for body mass index	2.000000e-12
GCST004500_11	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	4.000000e-09
GCST004500_132	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	5.000000e-11
GCST004501_60	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	1.000000e-10
GCST004501_61	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	1.000000e-08
GCST004504_58	Waist circumference adjusted for BMI in non-smokers	9.000000e-08
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
GCST004570_6	Iron status biomarkers (iron levels)	4.000000e-08
GCST004573_8	Iron status biomarkers (ferritin levels)	2.000000e-07
GCST006575_9	Takayasu arteritis	5.000000e-07
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
GCST008362_109	Birth weight	2.000000e-06
GCST008362_151	Birth weight	1.000000e-13
GCST008363_111	Offspring birth weight	2.000000e-08
GCST010141_1	Beef consumption	7.000000e-13
GCST010143_19	Meat-related diet	5.000000e-13
GCST010143_31	Meat-related diet	7.000000e-09
GCST010143_5	Meat-related diet	4.000000e-09
GCST90020028_930	Hip circumference adjusted for BMI	5.000000e-24
GCST90020029_1296	Waist circumference adjusted for body mass index	1.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004318	smoking behavior
EFO:0004459	ferritin measurement
EFO:0004341	body fat distribution
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0008111	diet measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Estradiol	affects expression, affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Tretinoin	decreases expression	2
Valproic Acid	decreases expression, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
bisphenol A	decreases expression	1
decabromobiphenyl ether	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
ferrous chloride	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
phenethyl isothiocyanate	decreases expression	1
fenpyroximate	increases expression	1
pyrimidifen	increases expression	1
3,4,5,4’-tetramethoxystilbene	affects expression	1
14-deoxy-11,12-didehydroandrographolide	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
licochalcone B	increases expression	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	affects binding, increases expression	1
Dasatinib	decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1

Clinical trials (associated diseases)

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