H2BC15
gene geneOn this page
Also known as H2B/d
Summary
H2BC15 (H2B clustered histone 15, HGNC:4749) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2B type 1-N (Q99877). Core component of nucleosome. It is a common-essential gene (DepMap: required in 99.2% of cancer 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 8341 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 11 total
- Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_003520
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4749 |
| Approved symbol | H2BC15 |
| Name | H2B clustered histone 15 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H2B/d |
| Ensembl gene | ENSG00000233822 |
| Ensembl biotype | protein_coding |
| OMIM | 602801 |
| Entrez | 8341 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay
ENST00000449538, ENST00000606613, ENST00000612898, ENST00000898165
RefSeq mRNA: 1 — MANE Select: NM_003520
NM_003520
CCDS: CCDS4633
Canonical transcript exons
ENST00000612898 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003727920 | 27838569 | 27839110 |
Expression profiles
Bgee: expression breadth ubiquitous, 166 present calls, max score 86.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 390.4226 / max 11250.1302, expressed in 1825 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66593 | 365.8806 | 1825 |
| 66594 | 10.9697 | 1303 |
| 66592 | 5.4917 | 1439 |
| 66590 | 3.5539 | 1127 |
| 66595 | 1.7442 | 668 |
| 66591 | 1.5831 | 520 |
| 66596 | 1.1185 | 509 |
| 203929 | 0.0808 | 44 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 86.23 | gold quality |
| bone marrow cell | CL:0002092 | 82.78 | gold quality |
| colonic epithelium | UBERON:0000397 | 80.96 | gold quality |
| monocyte | CL:0000576 | 78.74 | gold quality |
| mononuclear cell | CL:0000842 | 78.15 | gold quality |
| leukocyte | CL:0000738 | 77.11 | gold quality |
| myocardium | UBERON:0002349 | 75.32 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 74.97 | gold quality |
| calcaneal tendon | UBERON:0003701 | 74.75 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 73.98 | gold quality |
| diaphragm | UBERON:0001103 | 73.40 | gold quality |
| triceps brachii | UBERON:0001509 | 72.31 | gold quality |
| gluteal muscle | UBERON:0002000 | 72.17 | gold quality |
| stromal cell of endometrium | CL:0002255 | 71.39 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 69.82 | gold quality |
| inferior olivary complex | UBERON:0002127 | 69.63 | gold quality |
| vastus lateralis | UBERON:0001379 | 69.57 | gold quality |
| bone marrow | UBERON:0002371 | 69.42 | gold quality |
| quadriceps femoris | UBERON:0001377 | 68.74 | gold quality |
| tonsil | UBERON:0002372 | 68.69 | gold quality |
| ventricular zone | UBERON:0003053 | 68.44 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 66.87 | gold quality |
| spinal cord | UBERON:0002240 | 66.09 | gold quality |
| hair follicle | UBERON:0002073 | 66.04 | gold quality |
| heart right ventricle | UBERON:0002080 | 65.78 | gold quality |
| muscle tissue | UBERON:0002385 | 65.30 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 65.10 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 64.82 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 64.80 | gold quality |
| vena cava | UBERON:0004087 | 64.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.36 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- Hypomethylation of ATG4A and HIST1H2BN in ovarian tumor-initiating cells predicts a poor prognosis for ovarian cancer patients. (PMID:24256813)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | H2bc3 | ENSMUSG00000075031 |
Paralogs (21): H2BW2 (ENSG00000101812), H2BW1 (ENSG00000123569), H2BC11 (ENSG00000124635), H2BC1 (ENSG00000146047), H2BC5 (ENSG00000158373), H2BC4 (ENSG00000180596), H2BC21 (ENSG00000184678), H2BC13 (ENSG00000185130), H2BC26 (ENSG00000196890), H2BC12 (ENSG00000197903), H2BC18 (ENSG00000203814), H2BC12L (ENSG00000234289), H2BC14 (ENSG00000273703), H2BC8 (ENSG00000273802), H2BC6 (ENSG00000274290), H2BC17 (ENSG00000274641), H2BC9 (ENSG00000275713), H2BC3 (ENSG00000276410), H2BC7 (ENSG00000277224), H2BC10 (ENSG00000278588), H2BK1 (ENSG00000285480)
Protein
Protein identifiers
Histone H2B type 1-N — Q99877 (reviewed: Q99877)
Alternative names: Histone H2B.d
All UniProt accessions (2): Q99877, U3KQK0
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_003511* (*=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 91, helix 4, cross-link 4, initiator methionine 1, chain 1, turn 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-Q99877-F1 | 87.68 | 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, 6, 7, 12, 12, 12, 12, 12, 12, 13, 13, 13, 15, 16, 16, 16, 16, 17 …
Glycosylation sites (1): 113
Function
Pathways and Gene Ontology
Reactome pathways
59 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: 199 (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, 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 (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 |
| 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
2258 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H2BC15 | PLG | P00747 | 867 |
| H2BC15 | RNF20 | Q5VTR2 | 835 |
| H2BC15 | H3C1 | P02295 | 813 |
| H2BC15 | H3C14 | Q71DI3 | 809 |
| H2BC15 | H3-5 | Q6NXT2 | 809 |
| H2BC15 | H3-4 | Q16695 | 809 |
| H2BC15 | H3-7 | Q5TEC6 | 809 |
| H2BC15 | H3-3A | P06351 | 808 |
| H2BC15 | RNF40 | O75150 | 772 |
| H2BC15 | H4C16 | P02304 | 745 |
| H2BC15 | H4C7 | Q99525 | 743 |
| H2BC15 | H2AC20 | Q16777 | 733 |
| H2BC15 | H2AC19 | P20670 | 733 |
| H2BC15 | DET1 | Q7L5Y6 | 725 |
| H2BC15 | USP22 | Q9UPT9 | 722 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAPK7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| ING4 | KAT7 | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | ARHGEF35 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMEM196 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H2AC4 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JPH2 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H3-4 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMA7 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CWF19L1 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CROCCP2 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DRAP1 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EWSR1 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| H2BC15 | BCCIP | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ktn1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DOK2 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCB | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| ELK4 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCB | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| LCK | UQCRQ | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| NS | H2BC12 | psi-mi:“MI:0914”(association) | 0.350 |
| NS | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| US11 | psi-mi:“MI:0914”(association) | 0.350 | |
| OPG199 | IRS4 | psi-mi:“MI:0914”(association) | 0.350 |
| VP35 | psi-mi:“MI:0914”(association) | 0.350 | |
| P/V/C | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (308): HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), BCCIP (Two-hybrid), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-MS), HIST1H2BN (Affinity Capture-RNA), HIST1H2BN (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” | H2BC15 | “translation regulation” |
| “MSL acetyltransferase” | “down-regulates activity” | H2BC15 | monoubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
74 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:27838637:A:AG | acceptor_gain | 0.8300 |
| 6:27838638:A:G | acceptor_gain | 0.7500 |
| 6:27838648:A:AG | acceptor_gain | 0.6600 |
| 6:27838649:G:GG | acceptor_gain | 0.6600 |
| 6:27838644:C:CA | acceptor_gain | 0.6400 |
| 6:27838649:GTTA:G | acceptor_gain | 0.5900 |
| 6:27838645:G:A | acceptor_gain | 0.5800 |
| 6:27838638:A:AG | acceptor_loss | 0.5600 |
| 6:27838647:CAGTT:C | acceptor_loss | 0.5600 |
| 6:27838648:A:T | acceptor_loss | 0.5600 |
| 6:27838649:G:GA | acceptor_loss | 0.5600 |
| 6:27838649:GT:G | acceptor_gain | 0.5500 |
| 6:27838649:GTT:G | acceptor_gain | 0.4800 |
| 6:27838649:GTTAC:G | acceptor_gain | 0.4600 |
| 6:27838644:CGGCA:C | acceptor_gain | 0.4100 |
| 6:27838645:GGCAG:G | acceptor_gain | 0.4100 |
| 6:27838646:GCAG:G | acceptor_gain | 0.3900 |
| 6:27838648:AGTT:A | acceptor_gain | 0.3900 |
| 6:27838647:CAG:C | acceptor_gain | 0.3700 |
| 6:27838795:TGCTG:T | donor_gain | 0.3700 |
| 6:27838623:T:TA | acceptor_loss | 0.3300 |
| 6:27838594:GCG:G | donor_gain | 0.3200 |
| 6:27838649:G:T | acceptor_gain | 0.3200 |
| 6:27838601:GTTGA:G | acceptor_loss | 0.3100 |
| 6:27838612:T:TA | acceptor_gain | 0.3100 |
| 6:27838613:A:AA | acceptor_gain | 0.3100 |
| 6:27838652:A:AG | acceptor_loss | 0.3100 |
| 6:27838833:A:AC | acceptor_gain | 0.3100 |
| 6:27838614:C:A | acceptor_gain | 0.3000 |
| 6:27838818:ACC:A | acceptor_gain | 0.3000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000325118 (6:27838750 G>A), RS1000705005 (6:27837000 G>A,C,T), RS1003496755 (6:27837167 G>A,C,T), RS1003529689 (6:27837384 C>G), RS1004472846 (6:27837221 TTATG>T), RS1005117359 (6:27837358 T>C), RS1006814442 (6:27839334 T>C,G), RS1006888623 (6:27838297 C>G,T), RS1008671799 (6:27836909 T>C), RS1009125385 (6:27839068 C>G), RS1009160954 (6:27839297 C>G), RS1010183329 (6:27836689 G>T), RS1011520991 (6:27839279 C>G), RS1012294977 (6:27838499 G>A), RS1012336593 (6:27837420 T>G)
Disease associations
OMIM: gene MIM:602801 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 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 |
| GCST005316_412 | Intelligence (MTAG) | 6.000000e-13 |
| GCST006269_1220 | General cognitive ability | 4.000000e-08 |
| 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 |
| GCST012228_153 | Waist-hip index | 2.000000e-08 |
| GCST012230_276 | Waist-to-hip ratio adjusted for BMI | 2.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| Copper Sulfate | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| deguelin | increases expression | 1 |
| K 7174 | 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 |
| pyrimidifen | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Antimycin A | increases expression | 1 |
| Berberine | decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Paraquat | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Sodium Selenite | decreases expression | 1 |
| Genistein | increases reaction, increases expression | 1 |
| Acrylamide | increases 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.