H2BC10

Summary

H2BC10 (H2B clustered histone 10, HGNC:4756) is a protein-coding gene on chromosome 6p22.2, encoding Histone H2B type 1-C/E/F/G/I (P62807). 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 H2B family. The protein has antibacterial and antifungal antimicrobial activity. 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 8346 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_003525

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4756
Approved symbol	H2BC10
Name	H2B clustered histone 10
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	H2B/k
Ensembl gene	ENSG00000278588
Ensembl biotype	protein_coding
OMIM	602807
Entrez	8346

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377733

RefSeq mRNA: 1 — MANE Select: NM_003525 NM_003525

CCDS: CCDS4603

Canonical transcript exons

ENST00000377733 — 1 exons

Exon	Start	End
ENSE00001474974	26272931	26273412

Expression profiles

Bgee: expression breadth ubiquitous, 146 present calls, max score 92.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 160.3546 / max 2701.3577, expressed in 1637 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66507	159.7871	1636
66508	0.2519	127
66509	0.2275	113
66510	0.0880	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	92.35	gold quality
endometrium epithelium	UBERON:0004811	85.51	gold quality
bone marrow cell	CL:0002092	85.16	gold quality
calcaneal tendon	UBERON:0003701	80.74	gold quality
colonic epithelium	UBERON:0000397	76.81	gold quality
bone marrow	UBERON:0002371	76.48	gold quality
tendon	UBERON:0000043	73.43	gold quality
thymus	UBERON:0002370	71.43	silver quality
jejunal mucosa	UBERON:0000399	69.62	silver quality
tonsil	UBERON:0002372	69.29	gold quality
oral cavity	UBERON:0000167	67.92	silver quality
olfactory bulb	UBERON:0002264	67.39	gold quality
pylorus	UBERON:0001166	67.37	silver quality
cartilage tissue	UBERON:0002418	67.23	silver quality
epithelium of bronchus	UBERON:0002031	66.45	silver quality
superficial temporal artery	UBERON:0001614	66.38	gold quality
bronchus	UBERON:0002185	66.35	silver quality
bronchial epithelial cell	CL:0002328	66.24	silver quality
mucosa of sigmoid colon	UBERON:0004993	66.22	silver quality
nasal cavity epithelium	UBERON:0005384	64.34	gold quality
pharyngeal mucosa	UBERON:0000355	63.98	silver quality
jejunum	UBERON:0002115	63.98	silver quality
type B pancreatic cell	CL:0000169	63.54	gold quality
medial globus pallidus	UBERON:0002477	63.45	silver quality
biceps brachii	UBERON:0001507	63.27	gold quality
triceps brachii	UBERON:0001509	63.20	gold quality
corpus epididymis	UBERON:0004359	62.94	silver quality
trabecular bone tissue	UBERON:0002483	62.73	gold quality
tendon of biceps brachii	UBERON:0008188	62.73	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	62.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.72

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Histone H2B antimicrobial peptides participate in the colonic defense against bacteria and fungi. (PMID:12860195)
• a catalytic and inhibitory loop mechanism may better describe the cross-talk relationship between H2B ubiquitination and H3 Lys-79 methylation (PMID:20442396)

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), H2BC12L (ENSG00000234289), H2BC14 (ENSG00000273703), H2BC8 (ENSG00000273802), H2BC6 (ENSG00000274290), H2BC17 (ENSG00000274641), H2BC9 (ENSG00000275713), H2BC3 (ENSG00000276410), H2BC7 (ENSG00000277224), H2BK1 (ENSG00000285480)

Protein

Protein identifiers

Histone H2B type 1-C/E/F/G/I — P62807 (reviewed: P62807)

Alternative names: Histone H2B.1 A, Histone H2B.a, Histone H2B.g, Histone H2B.h, Histone H2B.k, Histone H2B.l

All UniProt accessions (2): B2R4S9, P62807

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. 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. 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_003516* (*=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 (110 total): modified residue 91, helix 4, cross-link 4, sequence conflict 2, strand 2, initiator methionine 1, chain 1, sequence variant 1, mutagenesis site 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

76 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
6ACO	X-RAY DIFFRACTION	1.71
7R5R	ELECTRON MICROSCOPY	2.44
8OX0	ELECTRON MICROSCOPY	2.52
9Y46	ELECTRON MICROSCOPY	2.59
10XZ	ELECTRON MICROSCOPY	2.6
7PII	ELECTRON MICROSCOPY	2.68
7U46	ELECTRON MICROSCOPY	2.68
10YA	ELECTRON MICROSCOPY	2.7
10YC	ELECTRON MICROSCOPY	2.7
8OOP	ELECTRON MICROSCOPY	2.7
8OX1	ELECTRON MICROSCOPY	2.7
9Y47	ELECTRON MICROSCOPY	2.74
10YB	ELECTRON MICROSCOPY	2.8
10YD	ELECTRON MICROSCOPY	2.8
8OO7	ELECTRON MICROSCOPY	2.8
5GT0	X-RAY DIFFRACTION	2.82
6X59	ELECTRON MICROSCOPY	2.98
7TAN	ELECTRON MICROSCOPY	3
8VWU	ELECTRON MICROSCOPY	3
6SEG	ELECTRON MICROSCOPY	3.1
7U51	ELECTRON MICROSCOPY	3.1
8QZM	ELECTRON MICROSCOPY	3.1
8VWS	ELECTRON MICROSCOPY	3.1
9DWF	ELECTRON MICROSCOPY	3.1
9EOZ	ELECTRON MICROSCOPY	3.1
7A08	ELECTRON MICROSCOPY	3.11
9NQU	ELECTRON MICROSCOPY	3.16
8OOA	ELECTRON MICROSCOPY	3.18
7UV9	ELECTRON MICROSCOPY	3.2
8X15	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62807-F1	87.94	0.68

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 (95): 6, 6, 6, 6, 7, 12, 12, 12, 12, 12, 12, 13, 13, 13, 15, 16, 16, 16, 16, 17 …

Glycosylation sites (1): 113

Mutagenesis-validated functional residues (1):

Position	Phenotype
114	no effect on interaction with vrk1.

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: 209 (showing top): REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, E2F_Q4_01, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, ENK_UV_RESPONSE_KERATINOCYTE_UP, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, E2F_Q3, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GENTILE_UV_HIGH_DOSE_DN

GO Biological Process (6): innate immune response in mucosa (GO:0002227), nucleosome assembly (GO:0006334), antibacterial humoral response (GO:0019731), 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 (5): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), identical protein binding (GO:0042802), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (7): nucleosome (GO:0000786), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), 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
antimicrobial humoral response	2
defense response to bacterium	2
chromatin	2
cellular anatomical structure	2
mucosal immune response	1
innate immune response	1
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
defense response	1
response to bacterium	1
nucleic acid binding	1
structural molecule activity	1
protein binding	1
protein dimerization activity	1
binding	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

113 interactions, top by confidence:

A	B	Type	Score
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
ANP32E	H2AZ1	psi-mi:“MI:0914”(association)	0.770
ANP32E	H2AZ1	psi-mi:“MI:0915”(physical association)	0.770
TP53BP1	H2AC11	psi-mi:“MI:0915”(physical association)	0.670
H2AC11	UBB	psi-mi:“MI:0915”(physical association)	0.650
MAPK7	PFDN6	psi-mi:“MI:0914”(association)	0.640
HIP1	HIP1R	psi-mi:“MI:0914”(association)	0.640
FH	H2AZ1	psi-mi:“MI:0914”(association)	0.620
H2BC10	TP53BP2	psi-mi:“MI:0915”(physical association)	0.560
H2BC10	AP2M1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (1779): HIST1H2BC (Two-hybrid), HIST1H2BG (Affinity Capture-RNA), HIST1H2BG (Affinity Capture-RNA), HIST1H2BD (Affinity Capture-MS), HIST1H2BD (Affinity Capture-MS), HIST1H2BD (Reconstituted Complex), HIST1H2BG (Reconstituted Complex), HIST1H2BF (Reconstituted Complex), HIST1H2BE (Reconstituted Complex), HIST1H2BI (Reconstituted Complex), HIST1H2BC (Reconstituted Complex), TPX2 (Proximity Label-MS), SMCHD1 (Proximity Label-MS), KIF23 (Proximity Label-MS), KIF4A (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”	H2BC4	“translation regulation”
“MSL acetyltransferase”	“down-regulates activity”	H2BC4	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 100 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
Activation of NF-kappaB in B cells	5	12.8×	9e-03
Signaling by ALK fusions and activated point mutants	6	11.7×	5e-03
Clathrin-mediated endocytosis	8	8.8×	3e-03
Oxidative Stress Induced Senescence	7	8.2×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	5	15.2×	3e-03
chromatin remodeling	11	9.6×	9e-06
regulation of apoptotic process	9	8.9×	2e-04
negative regulation of apoptotic process	11	4.5×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

92 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26273150:GC:G	donor_gain	0.9000
6:26273109:TGCTG:T	donor_gain	0.8200
6:26273110:GCTGA:G	donor_gain	0.7500
6:26273082:A:T	donor_gain	0.7400
6:26273156:GGGAT:G	donor_gain	0.7300
6:26273353:G:GG	donor_gain	0.7300
6:26273158:GAT:G	donor_gain	0.7100
6:26273331:TCACC:T	donor_gain	0.7000
6:26273157:GGAT:G	donor_gain	0.6900
6:26273203:C:T	donor_gain	0.6800
6:26273093:GT:G	donor_gain	0.6200
6:26273111:C:CG	donor_gain	0.5900
6:26273095:G:GG	donor_gain	0.5800
6:26273051:G:GT	donor_gain	0.5500
6:26273081:G:GT	donor_gain	0.5300
6:26273056:C:T	donor_gain	0.4600
6:26273187:TCGAG:T	acceptor_gain	0.4200
6:26273188:CGAGC:C	acceptor_gain	0.4200
6:26273189:GAGCG:G	acceptor_gain	0.4200
6:26273337:A:AG	donor_gain	0.4200
6:26273338:G:GG	donor_gain	0.4200
6:26273352:A:AG	donor_gain	0.4200
6:26273059:G:GT	donor_gain	0.4100
6:26273151:C:G	donor_gain	0.4100
6:26273086:C:G	donor_gain	0.4000
6:26273094:T:G	donor_gain	0.3800
6:26273191:G:T	acceptor_gain	0.3700
6:26273098:C:A	donor_gain	0.3600
6:26273100:TGTAC:T	donor_gain	0.3400
6:26273105:A:AC	acceptor_gain	0.3400

AlphaMissense

810 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:26273112:T:C	L46P	1.000
6:26273253:G:T	R93M	1.000
6:26273267:G:C	A98P	1.000
6:26273268:C:A	A98D	1.000
6:26273277:T:C	L101P	1.000
6:26273288:G:T	G105W	1.000
6:26273289:G:A	G105E	1.000
6:26273289:G:T	G105V	1.000
6:26273295:T:C	L107P	1.000
6:26273307:C:A	A111E	1.000
6:26273318:G:C	G115R	1.000
6:26273318:G:T	G115C	1.000
6:26273319:G:A	G115D	1.000
6:26273326:G:C	K117N	1.000
6:26273326:G:T	K117N	1.000
6:26273327:G:C	A118P	1.000
6:26273116:G:C	K47N	0.999
6:26273116:G:T	K47N	0.999
6:26273118:A:C	Q48P	0.999
6:26273151:C:A	A59D	0.999
6:26273160:T:A	I62N	0.999
6:26273181:A:C	D69A	0.999
6:26273181:A:T	D69V	0.999
6:26273193:G:C	R73P	0.999
6:26273198:G:C	A75P	0.999
6:26273199:C:A	A75E	0.999
6:26273207:G:C	A78P	0.999
6:26273208:C:A	A78D	0.999
6:26273217:T:C	L81P	0.999
6:26273244:T:A	I90N	0.999

dbSNP variants (sampled 300 via entrez): RS1001282335 (6:26271835 C>G,T), RS1003514338 (6:26271724 T>A), RS1003820046 (6:26271419 G>A,C), RS1004478250 (6:26273185 T>C), RS1005849972 (6:26272590 AAG>A), RS1005970529 (6:26272881 G>A,C,T), RS1007269666 (6:26271208 A>C,G,T), RS1007860838 (6:26272658 C>G), RS1007938396 (6:26273776 G>A,T), RS1009284656 (6:26273625 C>T), RS1009930566 (6:26272188 G>C), RS1010937297 (6:26273458 A>C), RS1010991284 (6:26273602 A>G), RS1013242041 (6:26273041 A>C,G), RS1014632109 (6:26272897 C>A,G,T)

Disease associations

OMIM: gene MIM:602807 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 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
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: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	2
Estradiol	affects expression, affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Aflatoxin B1	affects expression, decreases methylation, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
pirinixic acid	affects binding, decreases expression, increases activity	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
sodium arsenite	decreases expression	1
1-hydroxypyrene	decreases expression	1
phenethyl isothiocyanate	decreases expression	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	affects binding, increases expression	1
(+)-JQ1 compound	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Air Pollutants, Occupational	decreases expression	1
Copper	affects binding, increases expression	1
Coumestrol	decreases expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Naphthoquinones	increases expression	1
Progesterone	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Valproic Acid	increases expression	1
Vincristine	increases expression	1

Clinical trials (associated diseases)

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