H2BC14

Summary

H2BC14 (H2B clustered histone 14, HGNC:4750) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2B type 1-M (Q99879). Core component of nucleosome. It is a selective cancer dependency (DepMap: 27.6% 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 small histone gene cluster on chromosome 6p22-p21.3.

Source: NCBI Gene 8342 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 25 total
• Cancer dependency (DepMap): dependent in 27.6% of screened cell lines
• MANE Select transcript: NM_003521

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4750
Approved symbol	H2BC14
Name	H2B clustered histone 14
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	H2B/e, dJ160A22.3
Ensembl gene	ENSG00000273703
Ensembl biotype	protein_coding
OMIM	602802
Entrez	8342

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000621112

RefSeq mRNA: 1 — MANE Select: NM_003521 NM_003521

CCDS: CCDS4629

Canonical transcript exons

ENST00000621112 — 1 exons

Exon	Start	End
ENSE00003744294	27815022	27815489

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 97.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 228.1837 / max 6978.8758, expressed in 1704 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66583	223.4499	1703
66585	1.9704	478
66584	1.6597	478
66586	0.5529	247
66587	0.5508	261

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	97.92	gold quality
adrenal tissue	UBERON:0018303	91.48	gold quality
endometrium epithelium	UBERON:0004811	74.53	silver quality
ventricular zone	UBERON:0003053	68.34	gold quality
colonic epithelium	UBERON:0000397	67.60	gold quality
bone marrow	UBERON:0002371	65.37	gold quality
middle frontal gyrus	UBERON:0002702	61.58	gold quality
buccal mucosa cell	CL:0002336	60.19	gold quality
tonsil	UBERON:0002372	59.95	gold quality
thymus	UBERON:0002370	57.91	silver quality
ganglionic eminence	UBERON:0004023	56.58	gold quality
lower esophagus mucosa	UBERON:0035834	53.88	gold quality
cranial nerve II	UBERON:0000941	53.26	silver quality
mucosa of transverse colon	UBERON:0004991	52.22	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.92	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
blood	UBERON:0000178	50.35	gold quality
lymph node	UBERON:0000029	50.28	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
corpus callosum	UBERON:0002336	49.32	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
trachea	UBERON:0003126	48.89	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
metanephric glomerulus	UBERON:0004736	47.83	gold quality
renal glomerulus	UBERON:0000074	47.64	gold quality
layer of synovial tissue	UBERON:0007616	47.24	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
nephron tubule	UBERON:0001231	46.71	gold quality
quadriceps femoris	UBERON:0001377	45.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.51

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 27.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	H2bc9	ENSMUSG00000114456

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), H2BC8 (ENSG00000273802), H2BC6 (ENSG00000274290), H2BC17 (ENSG00000274641), H2BC9 (ENSG00000275713), H2BC3 (ENSG00000276410), H2BC7 (ENSG00000277224), H2BC10 (ENSG00000278588), H2BK1 (ENSG00000285480)

Protein

Protein identifiers

Histone H2B type 1-M — Q99879 (reviewed: Q99879)

Alternative names: Histone H2B.e

All UniProt accessions (1): Q99879

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. 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_003512* (*=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 (101 total): modified residue 91, cross-link 4, initiator methionine 1, chain 1, sequence conflict 1, region of interest 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
10YE	ELECTRON MICROSCOPY	2.5
9D3P	ELECTRON MICROSCOPY	2.5
9D3K	ELECTRON MICROSCOPY	2.7
9D3L	ELECTRON MICROSCOPY	2.8
9D3Q	ELECTRON MICROSCOPY	2.8
9D3T	ELECTRON MICROSCOPY	2.8
10YH	ELECTRON MICROSCOPY	2.9
10YI	ELECTRON MICROSCOPY	2.9
9D3M	ELECTRON MICROSCOPY	2.9
9D3N	ELECTRON MICROSCOPY	3
9D3O	ELECTRON MICROSCOPY	3
9D3S	ELECTRON MICROSCOPY	3.1
10YG	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99879-F1	87.14	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 (95): 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: 186 (showing top): REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, 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, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GOBP_HUMORAL_IMMUNE_RESPONSE, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION

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

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), 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
chromatin	2
cellular anatomical structure	2
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	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
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2209 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
H2BC14	PLG	P00747	867
H2BC14	RNF20	Q5VTR2	843
H2BC14	H4C16	P02304	829
H2BC14	H3-3A	P06351	824
H2BC14	H3C1	P02295	817
H2BC14	H3C14	Q71DI3	811
H2BC14	H3-4	Q16695	810
H2BC14	H3-5	Q6NXT2	809
H2BC14	H3-7	Q5TEC6	809
H2BC14	RNF40	O75150	772
H2BC14	H4C7	Q99525	744
H2BC14	H2AC20	Q16777	734
H2BC14	H2AC19	P20670	734
H2BC14	H2AZ1	P0C0S5	732
H2BC14	USP22	Q9UPT9	727
H2BC14	DET1	Q7L5Y6	727

IntAct

53 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
H1-6	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
HDAC6	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H4C16	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H2AC4	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H2AX	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
MATN1	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H2BC14	PDCD4	psi-mi:“MI:0915”(physical association)	0.400
YY1	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H2AC14	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
CC2D1B	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
OSBPL9	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
PPP1R11	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H3-4	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
IFT57	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
BMS1	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
ATAD5	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H3C13	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
IPO7	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
H2BC14	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
CST7	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
TICRR	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
SPEF2	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
TMA7	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
CMC1	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
Ktn1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PPM1H	ACACB	psi-mi:“MI:0914”(association)	0.350
DOK2	MYO1C	psi-mi:“MI:0914”(association)	0.350

BioGRID (272): HIST1H2BM (Reconstituted Complex), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Reconstituted Complex), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-RNA), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (Affinity Capture-MS), HIST1H2BM (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”	H2BC14	“translation regulation”
“MSL acetyltransferase”	“down-regulates activity”	H2BC14	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 65 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	8	38.2×	3e-09
Recognition and association of DNA glycosylase with site containing an affected purine	8	35.5×	4e-09
Cleavage of the damaged purine	8	35.5×	4e-09
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	8	32.0×	4e-09
Cleavage of the damaged pyrimidine	8	32.0×	4e-09
RNA Polymerase I Promoter Opening	8	32.0×	4e-09
ChAHP complex assembly	8	32.0×	4e-09
DNA methylation	8	31.0×	5e-09

GO biological processes:

GO term	Partners	Fold	FDR
nucleosome assembly	7	18.6×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

81 predictions. Top by Δscore:

Variant	Effect	Δscore
6:27815150:A:T	donor_gain	0.8400
6:27815177:TGCTG:T	donor_gain	0.7400
6:27815149:G:GT	donor_gain	0.6800
6:27815178:GCTGA:G	donor_gain	0.6500
6:27815399:TCACC:T	donor_gain	0.5800
6:27815154:C:G	donor_gain	0.5700
6:27815161:GT:G	donor_gain	0.5600
6:27815216:A:G	acceptor_gain	0.5600
6:27815119:G:GT	donor_gain	0.5500
6:27815179:C:CG	donor_gain	0.5300
6:27815173:A:AC	acceptor_gain	0.5200
6:27815215:AAG:A	acceptor_gain	0.5200
6:27815163:G:GG	donor_gain	0.5100
6:27815421:G:GG	donor_gain	0.5100
6:27815124:A:T	donor_gain	0.4800
6:27815166:T:A	donor_gain	0.4700
6:27815215:A:AG	acceptor_gain	0.4600
6:27815420:A:AG	donor_gain	0.4600
6:27815172:CA:C	acceptor_gain	0.4400
6:27815200:ACC:A	acceptor_gain	0.4400
6:27815162:T:G	donor_gain	0.4100
6:27815215:A:AC	acceptor_gain	0.4100
6:27815406:G:GG	donor_gain	0.3800
6:27815257:G:GC	acceptor_gain	0.3700
6:27815408:ATACC:A	donor_gain	0.3600
6:27815127:G:GT	donor_gain	0.3500
6:27815217:G:GG	acceptor_gain	0.3500
6:27815247:C:CA	acceptor_gain	0.3500
6:27815405:A:AG	donor_gain	0.3400
6:27815170:TACA:T	acceptor_gain	0.3200

AlphaMissense

812 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:27815275:G:C	A78P	1.000
6:27815321:G:T	R93M	1.000
6:27815345:T:C	L101P	1.000
6:27815363:T:C	L107S	1.000
6:27815375:C:A	A111D	1.000
6:27815386:G:C	G115R	1.000
6:27815386:G:T	G115C	1.000
6:27815387:G:A	G115D	1.000
6:27815180:T:C	L46P	0.999
6:27815186:A:C	Q48P	0.999
6:27815236:T:C	S65P	0.999
6:27815249:A:T	D69V	0.999
6:27815261:G:C	R73P	0.999
6:27815267:C:A	A75D	0.999
6:27815276:C:A	A78E	0.999
6:27815285:T:A	L81Q	0.999
6:27815285:T:C	L81P	0.999
6:27815321:G:C	R93T	0.999
6:27815322:G:C	R93S	0.999
6:27815322:G:T	R93S	0.999
6:27815323:G:A	E94K	0.999
6:27815331:G:C	Q96H	0.999
6:27815331:G:T	Q96H	0.999
6:27815335:G:C	A98P	0.999
6:27815336:C:A	A98D	0.999
6:27815341:C:A	R100S	0.999
6:27815342:G:C	R100P	0.999
6:27815345:T:A	L101Q	0.999
6:27815356:G:A	G105R	0.999
6:27815356:G:C	G105R	0.999

dbSNP variants (sampled 300 via entrez): RS1003588463 (6:27813983 C>T), RS1004068522 (6:27814159 C>A,G), RS1004900989 (6:27815510 G>A,C), RS1005229686 (6:27814266 G>A,C,T), RS1005576257 (6:27813956 G>A), RS1005734410 (6:27814187 A>C,G), RS1006842261 (6:27813314 A>T), RS1007117594 (6:27813609 AATT>A), RS1007745778 (6:27814447 C>T), RS1011245232 (6:27813237 A>AT), RS1012170504 (6:27813511 G>T), RS1012373002 (6:27815793 T>A), RS1014391829 (6:27815708 C>A,T), RS1014899880 (6:27813044 G>A), RS1014900679 (6:27815519 TAA>T)

Disease associations

OMIM: gene MIM:602802 | 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_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_115	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_116	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_166	Autism spectrum disorder or schizophrenia	4.000000e-24
GCST004521_22	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004521_23	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004521_6	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_73	Autism spectrum disorder or schizophrenia	8.000000e-11
GCST008921_6	Asthma and major depressive disorder	1.000000e-09
GCST010002_50	Refractive error	4.000000e-34
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	decreases expression, increases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
Arsenic Trioxide	decreases expression	2
Estradiol	affects expression, decreases expression	2
Folic Acid	affects cotreatment, decreases expression	2
Methotrexate	affects cotreatment, decreases expression	2
Copper Sulfate	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
alpha phellandrene	increases expression	1
bisphenol A	decreases expression	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
ascorbate-2-phosphate	affects binding, affects cotreatment, decreases expression	1
hydroxyhydroquinone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
nickel sulfate	increases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, decreases expression	1
diallyl trisulfide	decreases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
diethyl malate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
deguelin	increases expression	1
fenpyroximate	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	increases expression	1

Clinical trials (associated diseases)

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