H2BC17
gene geneOn this page
Also known as H2B/nH2B.2
Summary
H2BC17 (H2B clustered histone 17, HGNC:4758) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2B type 1-O (P23527). 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. 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 8348 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 13 total
- MANE Select transcript:
NM_003527
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4758 |
| Approved symbol | H2BC17 |
| Name | H2B clustered histone 17 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H2B/n, H2B.2 |
| Ensembl gene | ENSG00000274641 |
| Ensembl biotype | protein_coding |
| OMIM | 602808 |
| Entrez | 8348 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000616182
RefSeq mRNA: 1 — MANE Select: NM_003527
NM_003527
CCDS: CCDS4640
Canonical transcript exons
ENST00000616182 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003717748 | 27893425 | 27893891 |
Expression profiles
Bgee: expression breadth ubiquitous, 137 present calls, max score 95.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 317.5954 / max 9939.5629, expressed in 1703 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66602 | 316.3650 | 1702 |
| 66603 | 1.2303 | 377 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow cell | CL:0002092 | 95.61 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.20 | gold quality |
| monocyte | CL:0000576 | 80.99 | gold quality |
| leukocyte | CL:0000738 | 79.82 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.65 | gold quality |
| granulocyte | CL:0000094 | 70.76 | gold quality |
| colonic epithelium | UBERON:0000397 | 67.28 | gold quality |
| calcaneal tendon | UBERON:0003701 | 64.83 | gold quality |
| ventricular zone | UBERON:0003053 | 64.14 | gold quality |
| blood | UBERON:0000178 | 62.67 | gold quality |
| bone marrow | UBERON:0002371 | 59.51 | gold quality |
| tonsil | UBERON:0002372 | 56.65 | gold quality |
| tendon | UBERON:0000043 | 55.94 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 54.30 | gold quality |
| right lung | UBERON:0002167 | 51.76 | gold quality |
| spleen | UBERON:0002106 | 50.88 | gold quality |
| rectum | UBERON:0001052 | 50.86 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 49.32 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| corpus callosum | UBERON:0002336 | 47.78 | silver quality |
| periodontal ligament | UBERON:0008266 | 47.14 | gold quality |
| renal glomerulus | UBERON:0000074 | 46.86 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 46.77 | gold quality |
| nephron tubule | UBERON:0001231 | 46.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 46.33 | gold quality |
| lymph node | UBERON:0000029 | 46.14 | gold quality |
| lung | UBERON:0002048 | 45.99 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 45.35 | gold quality |
| upper leg skin | UBERON:0004262 | 45.33 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.23 |
Regulation
Is transcription factor: no
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), H2BC9 (ENSG00000275713), H2BC3 (ENSG00000276410), H2BC7 (ENSG00000277224), H2BC10 (ENSG00000278588), H2BK1 (ENSG00000285480)
Protein
Protein identifiers
Histone H2B type 1-O — P23527 (reviewed: P23527)
Alternative names: H2B-clustered histone 17, Histone H2B.2, Histone H2B.n
All UniProt accessions (1): P23527
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. 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.
Miscellaneous. The mouse orthologous protein does not seem to exist.
Similarity. Belongs to the histone H2B family.
RefSeq proteins (1): NP_003518* (*=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 (106 total): modified residue 90, helix 4, cross-link 4, strand 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7WLP | X-RAY DIFFRACTION | 2.29 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P23527-F1 | 88.04 | 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 (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: 177 (showing top):
REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, 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_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GOBP_HUMORAL_IMMUNE_RESPONSE, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, REACTOME_DNA_REPAIR
GO Biological Process (1): nucleosome assembly (GO:0006334)
GO Molecular Function (4): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (5): nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), 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 |
| binding | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2376 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H2BC17 | H3C1 | P02295 | 882 |
| H2BC17 | PLG | P00747 | 867 |
| H2BC17 | RNF20 | Q5VTR2 | 843 |
| H2BC17 | H3C14 | Q71DI3 | 814 |
| H2BC17 | H3-5 | Q6NXT2 | 814 |
| H2BC17 | H3-4 | Q16695 | 814 |
| H2BC17 | H3-3A | P06351 | 813 |
| H2BC17 | H3-7 | Q5TEC6 | 812 |
| H2BC17 | RNF40 | O75150 | 777 |
| H2BC17 | H2AC19 | P20670 | 761 |
| H2BC17 | H2AC20 | Q16777 | 760 |
| H2BC17 | H4C16 | P02304 | 746 |
| H2BC17 | H4C7 | Q99525 | 746 |
| H2BC17 | DET1 | Q7L5Y6 | 729 |
| H2BC17 | USP22 | Q9UPT9 | 727 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| H2BC17 | PCDHB12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ING4 | KAT7 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L5 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRPF38A | H2BC17 | psi-mi:“MI:0914”(association) | 0.510 |
| ARRB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARRB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| EPB41L5 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6KA3 | BAG2 | psi-mi:“MI:0914”(association) | 0.350 |
| Aire | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| H1-7 | psi-mi:“MI:0914”(association) | 0.350 | |
| HNRNPCL1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF346 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKRA | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| ANP32E | KPNA5 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AJ | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| CACUL1 | H2BC17 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (369): HIST1H2BO (Affinity Capture-RNA), HIST1H2BO (Affinity Capture-RNA), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), PRPF38A (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS), HIST1H2BO (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” | H2BC17 | “translation regulation” |
| “MSL acetyltransferase” | “down-regulates activity” | H2BC17 | monoubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| heterochromatin formation | 5 | 33.6× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
38 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:27893596:TGCTG:T | donor_gain | 0.7200 |
| 6:27893573:T:G | donor_gain | 0.6800 |
| 6:27893637:GCCA:G | donor_gain | 0.6700 |
| 6:27893597:GCTGA:G | donor_gain | 0.6400 |
| 6:27893604:C:T | donor_gain | 0.6100 |
| 6:27893569:A:T | donor_gain | 0.5800 |
| 6:27893818:TCACC:T | donor_gain | 0.5400 |
| 6:27893538:G:GT | donor_gain | 0.5300 |
| 6:27893592:A:AC | acceptor_gain | 0.4900 |
| 6:27893840:G:GG | donor_gain | 0.4900 |
| 6:27893598:C:CG | donor_gain | 0.4800 |
| 6:27893839:A:AG | donor_gain | 0.4200 |
| 6:27893619:ACC:A | acceptor_gain | 0.4100 |
| 6:27893543:C:T | donor_gain | 0.4000 |
| 6:27893591:CA:C | acceptor_gain | 0.3900 |
| 6:27893690:C:T | donor_gain | 0.3900 |
| 6:27893825:G:GG | donor_gain | 0.3800 |
| 6:27893589:TACA:T | acceptor_gain | 0.3600 |
| 6:27893590:ACAA:A | acceptor_gain | 0.3600 |
| 6:27893824:A:AG | donor_gain | 0.3600 |
| 6:27893827:ACACC:A | donor_gain | 0.3600 |
| 6:27893843:A:AG | donor_gain | 0.3300 |
| 6:27893593:A:G | acceptor_gain | 0.3000 |
| 6:27893676:G:GC | acceptor_gain | 0.2900 |
| 6:27893546:G:GT | donor_gain | 0.2800 |
| 6:27893585:C:CA | acceptor_gain | 0.2700 |
| 6:27893599:T:G | donor_gain | 0.2700 |
| 6:27893621:C:A | acceptor_gain | 0.2600 |
| 6:27893742:G:T | donor_gain | 0.2600 |
| 6:27893634:A:AC | acceptor_gain | 0.2500 |
AlphaMissense
813 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:27893599:T:C | L46P | 1.000 |
| 6:27893605:A:C | Q48P | 1.000 |
| 6:27893668:A:T | D69V | 1.000 |
| 6:27893686:C:A | A75D | 1.000 |
| 6:27893694:G:C | A78P | 1.000 |
| 6:27893695:C:A | A78D | 1.000 |
| 6:27893704:T:C | L81P | 1.000 |
| 6:27893740:G:C | R93T | 1.000 |
| 6:27893740:G:T | R93M | 1.000 |
| 6:27893741:G:C | R93S | 1.000 |
| 6:27893741:G:T | R93S | 1.000 |
| 6:27893742:G:A | E94K | 1.000 |
| 6:27893750:G:C | Q96H | 1.000 |
| 6:27893750:G:T | Q96H | 1.000 |
| 6:27893754:G:C | A98P | 1.000 |
| 6:27893755:C:A | A98D | 1.000 |
| 6:27893760:C:A | R100S | 1.000 |
| 6:27893764:T:A | L101Q | 1.000 |
| 6:27893764:T:C | L101P | 1.000 |
| 6:27893775:G:A | G105R | 1.000 |
| 6:27893775:G:C | G105R | 1.000 |
| 6:27893775:G:T | G105W | 1.000 |
| 6:27893776:G:A | G105E | 1.000 |
| 6:27893776:G:T | G105V | 1.000 |
| 6:27893778:G:A | E106K | 1.000 |
| 6:27893782:T:A | L107Q | 1.000 |
| 6:27893782:T:C | L107P | 1.000 |
| 6:27893785:C:A | A108D | 1.000 |
| 6:27893789:G:C | K109N | 1.000 |
| 6:27893789:G:T | K109N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000031105 (6:27892110 C>T), RS1000538626 (6:27892660 G>A,C), RS1000653439 (6:27892473 AC>A), RS1001722973 (6:27891963 G>A), RS1001775135 (6:27892177 C>G), RS1001825482 (6:27893057 C>A,G,T), RS1003892930 (6:27894202 G>A,C), RS1006508969 (6:27891599 C>A,G), RS1007560035 (6:27892495 T>C), RS1008011219 (6:27893207 G>A,T), RS1008089069 (6:27892245 G>T), RS1009911597 (6:27893098 G>C,T), RS1010462329 (6:27892423 CT>C), RS1011592663 (6:27894288 G>A), RS1012639702 (6:27891700 C>A)
Disease associations
OMIM: gene MIM:602808 | 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 |
| GCST004748_90 | Lung cancer | 2.000000e-10 |
| GCST008921_6 | Asthma and major depressive disorder | 1.000000e-09 |
| 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
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression | 2 |
| Dimethyl Sulfoxide | decreases expression, affects expression | 2 |
| Doxorubicin | decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| decabromobiphenyl ether | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| ferrous chloride | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression | 1 |
| Berberine | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Estradiol | affects expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.