H2AJ

Summary

H2AJ (H2A.J histone, HGNC:14456) is a protein-coding gene on chromosome 12p12.3, encoding Histone H2A.J (Q9BTM1). Core component of nucleosome. It is a selective cancer dependency (DepMap: 12.4% of cell lines).

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.

Source: NCBI Gene 55766 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• Cancer dependency (DepMap): dependent in 12.4% of screened cell lines
• MANE Select transcript: NM_177925

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14456
Approved symbol	H2AJ
Name	H2A.J histone
Location	12p12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10903, MGC921
Ensembl gene	ENSG00000246705
Ensembl biotype	protein_coding
Entrez	55766

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 nonsense_mediated_decay, 1 protein_coding

ENST00000389078, ENST00000501744, ENST00000544848

RefSeq mRNA: 1 — MANE Select: NM_177925 NM_177925

CCDS: CCDS31752

Canonical transcript exons

ENST00000544848 — 1 exons

Exon	Start	End
ENSE00001985214	14774405	14775024

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 99.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 109.9846 / max 1176.4932, expressed in 1742 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124456	107.2298	1740
124457	1.9079	824
124458	0.8469	446

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	99.61	gold quality
right testis	UBERON:0004534	99.50	gold quality
adult organism	UBERON:0007023	99.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.01	gold quality
popliteal artery	UBERON:0002250	98.82	gold quality
mucosa of transverse colon	UBERON:0004991	98.82	gold quality
tibial artery	UBERON:0007610	98.82	gold quality
left coronary artery	UBERON:0001626	98.79	gold quality
aorta	UBERON:0000947	98.74	gold quality
coronary artery	UBERON:0001621	98.73	gold quality
thoracic aorta	UBERON:0001515	98.69	gold quality
ascending aorta	UBERON:0001496	98.68	gold quality
right coronary artery	UBERON:0001625	98.68	gold quality
descending thoracic aorta	UBERON:0002345	98.64	gold quality
tibial nerve	UBERON:0001323	98.57	gold quality
parotid gland	UBERON:0001831	98.51	gold quality
mucosa of stomach	UBERON:0001199	98.49	gold quality
left adrenal gland cortex	UBERON:0035825	98.42	gold quality
esophagus squamous epithelium	UBERON:0006920	98.39	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.37	gold quality
skin of leg	UBERON:0001511	98.36	gold quality
omental fat pad	UBERON:0010414	98.36	gold quality
peritoneum	UBERON:0002358	98.35	gold quality
left adrenal gland	UBERON:0001234	98.31	gold quality
right adrenal gland	UBERON:0001233	98.23	gold quality
adrenal cortex	UBERON:0001235	98.23	gold quality
adipose tissue	UBERON:0001013	98.19	gold quality
right adrenal gland cortex	UBERON:0035827	98.12	gold quality
skin of abdomen	UBERON:0001416	98.11	gold quality
saphenous vein	UBERON:0007318	98.01	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	47.70
E-MTAB-6701	yes	43.34
E-GEOD-134144	yes	28.55
E-CURD-112	yes	22.01
E-ANND-3	yes	21.27
E-HCAD-11	yes	19.12
E-CURD-122	yes	17.36
E-HCAD-9	yes	5.68
E-ENAD-27	no	73.57
E-MTAB-8410	no	3.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting H2AJ, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 12.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• In this paper, the authors identified and cloned the H2AFJ gene on chr 12 and used it as a control for studying two macroH2A genes. (PMID:11331621)
• The antimicrobial protein buforin I results from proteolytic cleavage of the histone protein H2A in the stomach. (PMID:21178486)
• Histone variant H2A.J (H2A.J) accumulates in senescent fibroblasts with DNA damage. (PMID:28489069)
• Histone Variant H2A.J Marks Persistent DNA Damage and Triggers the Secretory Phenotype in Radiation-Induced Senescence. (PMID:33266246)
• Histone Variant H2A.J Is Enriched in Luminal Epithelial Gland Cells. (PMID:34828271)
• Studies on Human Cultured Fibroblasts and Cutaneous Squamous Cell Carcinomas Suggest That Overexpression of Histone Variant H2A.J Promotes Radioresistance and Oncogenic Transformation. (PMID:39062630)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000098739
mus_musculus	H2aj	ENSMUSG00000060032
rattus_norvegicus	H2aj	ENSRNOG00000078093
caenorhabditis_elegans		WBGENE00014240

Paralogs (27): MACROH2A2 (ENSG00000099284), H2AZ2 (ENSG00000105968), MACROH2A1 (ENSG00000113648), H2AZ1 (ENSG00000164032), H2AC1 (ENSG00000164508), H2AC6 (ENSG00000180573), H2AC25 (ENSG00000181218), H2AC20 (ENSG00000184260), H2AC21 (ENSG00000184270), H2AX (ENSG00000188486), H2AC13 (ENSG00000196747), H2AC11 (ENSG00000196787), H2AC7 (ENSG00000196866), H2AL3 (ENSG00000229674), H2AL1Q (ENSG00000249467), H2AB1 (ENSG00000274183), H2AC12 (ENSG00000274997), H2AC15 (ENSG00000275221), H2AC14 (ENSG00000276368), H2AC16 (ENSG00000276903), H2AC8 (ENSG00000277075), H2AB3 (ENSG00000277745), H2AB2 (ENSG00000277858), H2AC4 (ENSG00000278463), H2AC17 (ENSG00000278677), H2AC18 (ENSG00000288825), H2AC19 (ENSG00000288859)

Protein

Protein identifiers

Histone H2A.J — Q9BTM1 (reviewed: Q9BTM1)

All UniProt accessions (2): H0YFX9, Q9BTM1

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 of Lys-120 (H2AXK119ub) gives a specific tag for epigenetic transcriptional repression. Following DNA double-strand breaks (DSBs), it is ubiquitinated through ‘Lys-63’ linkage of ubiquitin moieties. Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription. Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex.

Similarity. Belongs to the histone H2A family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BTM1-1	1	yes
Q9BTM1-2	2

RefSeq proteins (1): NP_808760* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002119	Histone_H2A	Family
IPR007125	H2A/H2B/H3	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR032454	Histone_H2A_C	Domain
IPR032458	Histone_H2A_CS	Conserved_site

Pfam: PF00125, PF16211

UniProt features (20 total): helix 6, modified residue 5, strand 3, initiator methionine 1, chain 1, turn 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6KVD	X-RAY DIFFRACTION	2.21
4EDU	X-RAY DIFFRACTION	2.58
6K60	X-RAY DIFFRACTION	3.15
7TRF	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BTM1-F1	91.36	0.80

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 (5): 6, 10, 10, 105, 121

Function

Pathways and Gene Ontology

Reactome pathways

45 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-3214858	RMTs methylate histone arginines
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-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-73728	RNA Polymerase I Promoter Opening
R-HSA-73772	RNA Polymerase I Promoter Escape
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-912446	Meiotic recombination

MSigDB gene sets: 242 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, KORKOLA_CHORIOCARCINOMA_DN, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BLALOCK_ALZHEIMERS_DISEASE_UP, KORKOLA_EMBRYONAL_CARCINOMA_DN, GROSS_HYPOXIA_VIA_ELK3_UP

GO Biological Process (1): heterochromatin formation (GO:0031507)

GO Molecular Function (3): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982)

GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), extracellular exosome (GO:0070062), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Cellular Senescence	3
Depyrimidination	2
Depurination	2
Epigenetic regulation of gene expression	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
Chromatin modifying enzymes	1
Gene Silencing by RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chromatin	2
cellular component assembly	1
heterochromatin boundary formation	1
negative regulation of gene expression, epigenetic	1
heterochromatin organization	1
nucleic acid binding	1
structural molecule activity	1
protein dimerization activity	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1403 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
H2AJ	NAP1L1	P55209	505
H2AJ	H4C16	P02304	481
H2AJ	H1-6	P22492	443
H2AJ	PGAP2	Q9UHJ9	431
H2AJ	H1-7	Q75WM6	426
H2AJ	ZNF782	Q6ZMW2	425
H2AJ	SSBP1	Q04837	422
H2AJ	RPL12	P30050	418
H2AJ	ACTB	P02570	409
H2AJ	POTEF	A5A3E0	406
H2AJ	VPS13B	Q7Z7G8	405
H2AJ	ZDHHC24	Q6UX98	397
H2AJ	ZNF248	Q8NDW4	387
H2AJ	PCYOX1L	Q8NBM8	378
H2AJ	CATSPERB	Q9H7T0	372

IntAct

36 interactions, top by confidence:

A	B	Type	Score
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
MED27	POLR2D	psi-mi:“MI:0914”(association)	0.530
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.530
	H2AJ	psi-mi:“MI:0915”(physical association)	0.400
NEK4	E2F8	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
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
LIN28A	MEX3A	psi-mi:“MI:0914”(association)	0.350
DNAJC2	RPS3A	psi-mi:“MI:0914”(association)	0.350
H1-0	SMARCA5	psi-mi:“MI:0914”(association)	0.350
H2BC21	SMCHD1	psi-mi:“MI:0914”(association)	0.350
HSF1	VCP	psi-mi:“MI:0914”(association)	0.350
PARP1	KPNA3	psi-mi:“MI:0914”(association)	0.350
PTDSS2	URI1	psi-mi:“MI:0914”(association)	0.350
H2AJ	WDR46	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
NS	H2BC12	psi-mi:“MI:0914”(association)	0.350
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.350
NS	HNRNPR	psi-mi:“MI:0914”(association)	0.350
	H2AC4	psi-mi:“MI:0914”(association)	0.350
P/V	H2AC4	psi-mi:“MI:0914”(association)	0.350
VP35	H2AC4	psi-mi:“MI:0914”(association)	0.350
NS1	PIK3R2	psi-mi:“MI:0914”(association)	0.350
NS	IGF2BP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (146): H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Proximity Label-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS), H2AFJ (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2PP81, A0A1W2PPE2, A0A1W2PPH5, A0A1W2PPL8, A0A1W2PR64, A0A1W2PRV1, A0A3B3IU63, A4QVR2, A5DQL2, A9UMV8, F4HR03, O35216, P06898, P0C1H6, P0C5Y9, P0C5Z0, P0DW11, P0DW12, P0DW13, P0DW14, P0DW85, P35061, P48003, P49450, Q00728, Q3SZB8, Q3ZBX9, Q4IMD1, Q5M8Q2, Q5TKR9, Q64522, Q64598, Q7Z2G1, Q803H4, Q873G4, Q8BRB7, Q8BZ21, Q8CGP5, Q8IUE6, Q8R1M2

Diamond homologs: A0A097I1R9, A0A097I2B5, A0A0D2UG83, A1A4R1, A1CJ10, A1D8G8, A3LXE7, A3LZZ0, A5DBG4, A5DJJ2, A5DWF1, A5DXC6, A9UMV8, C0HKE1, C0HKE2, C0HKE3, C0HKE4, C0HKE5, C0HKE6, C0HKE7, C0HKE8, C0HKE9, L7HZV6, O74268, P02262, P02263, P02264, P04908, P04909, P04910, P04911, P04912, P06897, P07793, P08844, P0C0S8, P0C0S9, P0C169, P0C170, P0C952

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SLBP	“up-regulates quantity by expression”	H2AJ	“translation regulation”
DZIP3	“up-regulates activity”	H2AJ	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
B-WICH complex positively regulates rRNA expression	5	21.7×	1e-03
Dengue Virus-Host Interactions	5	8.2×	1e-02
Infectious disease	6	5.3×	1e-02

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	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

136 predictions. Top by Δscore:

Variant	Effect	Δscore
12:14774704:GA:G	donor_gain	0.8400
12:14774584:G:T	donor_gain	0.8300
12:14774451:GTT:G	donor_gain	0.7400
12:14774468:A:AG	donor_gain	0.7400
12:14774634:TGTTG:T	donor_gain	0.7400
12:14774635:GTTGG:G	donor_gain	0.7400
12:14774583:GGAAC:G	donor_gain	0.7300
12:14774750:T:G	donor_gain	0.7300
12:14774747:GAGT:G	donor_gain	0.6800
12:14774459:C:T	donor_gain	0.6700
12:14774469:T:G	donor_gain	0.6600
12:14774466:TGATC:T	donor_gain	0.5800
12:14774835:A:T	donor_gain	0.5700
12:14774879:G:GT	donor_gain	0.5500
12:14774724:A:AG	acceptor_gain	0.5300
12:14774725:G:GG	acceptor_gain	0.5300
12:14774584:GAAC:G	donor_gain	0.5200
12:14774705:A:G	donor_gain	0.5200
12:14774449:GAGTT:G	donor_gain	0.5100
12:14774638:G:GT	donor_gain	0.5100
12:14774430:C:CA	donor_gain	0.4900
12:14774434:T:A	donor_gain	0.4600
12:14774636:TTG:T	donor_gain	0.4600
12:14774454:G:GG	donor_gain	0.4400
12:14774453:T:TG	donor_gain	0.4300
12:14774467:G:A	donor_gain	0.4200
12:14774767:C:T	donor_gain	0.4200
12:14774771:G:GG	donor_gain	0.4200
12:14774600:G:GG	donor_gain	0.4100
12:14774770:A:AG	donor_gain	0.4100

AlphaMissense

809 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:14774642:T:C	Y58H	1.000
12:14774667:T:C	L66P	1.000
12:14774673:G:A	G68D	1.000
12:14774706:T:A	I79K	1.000
12:14774727:T:C	L86P	1.000
12:14774742:A:T	D91V	1.000
12:14774541:T:C	L24P	0.999
12:14774547:T:C	F26S	0.999
12:14774556:G:A	G29D	0.999
12:14774604:G:A	G45D	0.999
12:14774630:G:C	A54P	0.999
12:14774631:C:A	A54E	0.999
12:14774639:G:A	E57K	0.999
12:14774640:A:T	E57V	0.999
12:14774646:T:C	L59P	0.999
12:14774651:G:C	A61P	0.999
12:14774654:G:A	E62K	0.999
12:14774655:A:T	E62V	0.999
12:14774661:T:C	L64P	0.999
12:14774663:G:A	E65K	0.999
12:14774664:A:T	E65V	0.999
12:14774667:T:A	L66Q	0.999
12:14774669:G:C	A67P	0.999
12:14774670:C:A	A67D	0.999
12:14774672:G:C	G68R	0.999
12:14774672:G:T	G68C	0.999
12:14774673:G:T	G68V	0.999
12:14774679:C:A	A70D	0.999
12:14774681:G:C	A71P	0.999
12:14774682:C:A	A71E	0.999

dbSNP variants (sampled 300 via entrez): RS1000937213 (12:14775916 A>C), RS1001350455 (12:14774311 C>G,T), RS1001423813 (12:14775589 T>C), RS1001780654 (12:14774032 A>G), RS1002954679 (12:14773251 G>A,C), RS1003052524 (12:14772524 C>T), RS1003191289 (12:14777558 T>C), RS1003737927 (12:14777932 T>C), RS1003914293 (12:14775174 G>A,T), RS1004921132 (12:14773976 G>A,C,T), RS1004932725 (12:14773702 C>A), RS1005000429 (12:14776365 C>G,T), RS1005200203 (12:14774512 G>A), RS1005272775 (12:14775995 C>T), RS1005749151 (12:14774845 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	8
Acetaminophen	affects expression, decreases expression, increases expression	4
Formaldehyde	increases expression	2
Nickel	decreases expression	2
Particulate Matter	affects cotreatment, increases expression, decreases expression, increases abundance	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
trichostatin A	increases expression	1
methylparaben	decreases expression	1
sodium bichromate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
Temozolomide	increases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Benztropine	increases expression	1
Cannabidiol	increases expression	1
Cisplatin	decreases expression	1
Clozapine	increases expression	1
Cytarabine	decreases expression	1

Clinical trials (associated diseases)

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