H2AC12

Summary

H2AC12 (H2A clustered histone 12, HGNC:13671) is a protein-coding gene on chromosome 6p22.1, encoding Histone H2A type 1-H (Q96KK5). Core component of nucleosome. It is a selective cancer dependency (DepMap: 58.5% 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 H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33.

Source: NCBI Gene 85235 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 30 total
• Cancer dependency (DepMap): dependent in 58.5% of screened cell lines
• MANE Select transcript: NM_080596

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13671
Approved symbol	H2AC12
Name	H2A clustered histone 12
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	H2AFALii, dJ86C11.1, H2A/S
Ensembl gene	ENSG00000274997
Ensembl biotype	protein_coding
OMIM	615013
Entrez	85235

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377459

RefSeq mRNA: 1 — MANE Select: NM_080596 NM_080596

CCDS: CCDS4622

Canonical transcript exons

ENST00000377459 — 1 exons

Exon	Start	End
ENSE00001473999	27147106	27147562

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1644.4187 / max 49589.4813, expressed in 1818 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66545	1644.4187	1818

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	98.60	gold quality
adrenal tissue	UBERON:0018303	89.75	gold quality
bone marrow	UBERON:0002371	88.07	gold quality
calcaneal tendon	UBERON:0003701	84.47	gold quality
colonic epithelium	UBERON:0000397	82.27	gold quality
corpus callosum	UBERON:0002336	72.80	gold quality
tonsil	UBERON:0002372	72.79	gold quality
sural nerve	UBERON:0015488	66.65	gold quality
granulocyte	CL:0000094	61.78	gold quality
ventricular zone	UBERON:0003053	58.71	gold quality
mucosa of transverse colon	UBERON:0004991	58.40	gold quality
right testis	UBERON:0004534	54.96	gold quality
ganglionic eminence	UBERON:0004023	54.62	gold quality
blood	UBERON:0000178	53.42	gold quality
placenta	UBERON:0001987	52.92	gold quality
testis	UBERON:0000473	52.81	gold quality
left testis	UBERON:0004533	52.64	gold quality
lymph node	UBERON:0000029	51.39	gold quality
urinary bladder	UBERON:0001255	51.14	gold quality
right uterine tube	UBERON:0001302	50.83	gold quality
fundus of stomach	UBERON:0001160	49.20	gold quality
transverse colon	UBERON:0001157	46.21	gold quality
lung	UBERON:0002048	46.00	gold quality
muscle tissue	UBERON:0002385	45.52	gold quality
uterine cervix	UBERON:0000002	45.39	gold quality
skeletal muscle tissue	UBERON:0001134	45.35	gold quality
small intestine	UBERON:0002108	44.31	gold quality
intestine	UBERON:0000160	44.21	gold quality
spleen	UBERON:0002106	43.70	gold quality
small intestine Peyer’s patch	UBERON:0003454	43.46	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6911	no	96.65
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 58.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Protein phosphatase 2C gamma binds to/dephosphorylates H2A to affect chromatin function. (PMID:17074886)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	His2A:CG31618	FBGN0051618
drosophila_melanogaster	His2A:CG33808	FBGN0053808
drosophila_melanogaster	His2A:CG33814	FBGN0053814
drosophila_melanogaster	His2A:CG33817	FBGN0053817
drosophila_melanogaster	His2A:CG33820	FBGN0053820
drosophila_melanogaster	His2A:CG33823	FBGN0053823
drosophila_melanogaster	His2A:CG33826	FBGN0053826
drosophila_melanogaster	His2A:CG33829	FBGN0053829
drosophila_melanogaster	His2A:CG33832	FBGN0053832
drosophila_melanogaster	His2A:CG33835	FBGN0053835
drosophila_melanogaster	His2A:CG33838	FBGN0053838
drosophila_melanogaster	His2A:CG33841	FBGN0053841
drosophila_melanogaster	His2A:CG33844	FBGN0053844
drosophila_melanogaster	His2A:CG33847	FBGN0053847
drosophila_melanogaster	His2A:CG33850	FBGN0053850
drosophila_melanogaster	His2A:CG33853	FBGN0053853
drosophila_melanogaster	His2A:CG33856	FBGN0053856
drosophila_melanogaster	His2A:CG33859	FBGN0053859
drosophila_melanogaster	His2A:CG33862	FBGN0053862
drosophila_melanogaster	His2A:CG33865	FBGN0053865

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), H2AJ (ENSG00000246705), H2AL1Q (ENSG00000249467), H2AB1 (ENSG00000274183), 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 type 1-H — Q96KK5 (reviewed: Q96KK5)

Alternative names: H2A-clustered histone 12, Histone H2A/s

All UniProt accessions (2): A3KPC7, Q96KK5

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. Deiminated on Arg-4 in granulocytes upon calcium entry. Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of ‘Lys-27’ of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers. Following DNA double-strand breaks (DSBs), it is ubiquitinated through ‘Lys-63’ linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and ‘Lys-63’-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend ‘Lys-63’-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired. H2AK119Ub and ionizing radiation-induced ‘Lys-63’-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events. 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. Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage. 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 H2A family.

RefSeq proteins (1): NP_542163* (*=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 (55 total): modified residue 36, helix 7, cross-link 3, strand 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
10YH	ELECTRON MICROSCOPY	2.9
10YI	ELECTRON MICROSCOPY	2.9
10YF	ELECTRON MICROSCOPY	3
8OL1	ELECTRON MICROSCOPY	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96KK5-F1	91.86	0.81

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 (39): 10, 10, 10, 10, 14, 14, 16, 37, 37, 37, 37, 75, 76, 96, 96, 96, 96, 96, 100, 105 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
2	blocks the inhibition of transcription by rps6ka5/msk1.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-3214815	HDACs deacetylate histones
R-HSA-3214847	HATs acetylate histones
R-HSA-3214858	RMTs methylate histone arginines
R-HSA-5689603	UCH proteinases
R-HSA-5689880	Ub-specific processing proteases
R-HSA-5689901	Metalloprotease DUBs
R-HSA-9609690	HCMV Early Events
R-HSA-9610379	HCMV Late Events
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 106 (showing top): E2F_Q4, E2F4DP1_01, FISCHER_G1_S_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, E2F1DP1_01, E2F_Q3, E2F1DP2_01, E2F1_Q3, FISCHER_DREAM_TARGETS, OCT1_B, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, TTTNNANAGCYR_UNKNOWN, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN

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-4 pathways:

Category	Pathways
Chromatin modifying enzymes	3
Deubiquitination	3
HCMV Infection	2
Dengue Virus Infection	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

0 interactions, top by confidence (×1000):

IntAct

73 interactions, top by confidence:

A	B	Type	Score
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
FH	H2AZ1	psi-mi:“MI:0914”(association)	0.620
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.530
ESR2		psi-mi:“MI:0914”(association)	0.500
PPM1G	H2BC12	psi-mi:“MI:0914”(association)	0.420
PPM1G	H2BC12	psi-mi:“MI:2364”(proximity)	0.420
H2AC12	H4C16	psi-mi:“MI:0915”(physical association)	0.400
H2BC9	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
H1-1	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
H1-10	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
COIL	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
H1-2	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
C2CD3	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
RFXAP	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	H3-4	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	H1-5	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	EEF1A1	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	HMGN1	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	H1-0	psi-mi:“MI:0915”(physical association)	0.400
H2AC12	H3C13	psi-mi:“MI:0915”(physical association)	0.400
SECISBP2	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
H2BC12L	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
ANKRD31	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
OLFML2B	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
TTN	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
HP1BP3	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
CFAP300	H2AC12	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (207): HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Proximity Label-MS), HIST1H2AH (Proximity Label-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS), HIST1H2AH (Affinity Capture-MS)

ESM2 similar proteins: A1A4R1, A9UMV8, C0HKE1, C0HKE2, C0HKE3, C0HKE4, C0HKE5, C0HKE6, C0HKE7, C0HKE8, C0HKE9, P02262, P02263, P02270, P04908, P06897, P0C0S8, P0C0S9, P0C169, P0C170, P0CC09, P13912, P19178, P20671, P21896, P27325, P35061, P35062, P70082, P84052, Q07135, Q16777, Q3ZBX9, Q4FZT6, Q4R3X5, Q64522, Q64523, Q64598, Q6FI13, Q6GSS7

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”	H2AC12	“translation regulation”
DZIP3	“up-regulates activity”	H2AC12	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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
Formation of Senescence-Associated Heterochromatin Foci (SAHF)	5	71.5×	2e-06
Packaging Of Telomere Ends	6	28.0×	4e-06
Signaling by SCF-KIT	5	26.4×	1e-05
Recognition and association of DNA glycosylase with site containing an affected purine	6	26.0×	5e-06
Cleavage of the damaged purine	6	26.0×	5e-06
FXIIa activates plasma kallikrein-kinin system	7	25.8×	2e-06
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	6	23.5×	5e-06
Cleavage of the damaged pyrimidine	6	23.5×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of DNA recombination	5	85.1×	6e-07
chromosome condensation	5	63.8×	2e-06
nucleosome assembly	11	23.4×	6e-10
chromatin organization	8	12.0×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

71 predictions. Top by Δscore:

Variant	Effect	Δscore
6:27147239:GG:G	donor_gain	0.8600
6:27147240:GG:G	donor_gain	0.8600
6:27147292:TGCTG:T	donor_gain	0.7300
6:27147293:GCTGG:G	donor_gain	0.7300
6:27147353:G:GT	donor_gain	0.7200
6:27147150:GGCG:G	donor_gain	0.6800
6:27147151:GCGG:G	donor_gain	0.6800
6:27147356:GACCC:G	donor_gain	0.6200
6:27147236:CAAGG:C	donor_loss	0.6000
6:27147237:AAGG:A	donor_loss	0.6000
6:27147238:AGGG:A	donor_loss	0.6000
6:27147239:GGGTA:G	donor_loss	0.6000
6:27147241:GT:G	donor_loss	0.5900
6:27147242:T:G	donor_loss	0.5900
6:27147243:A:C	donor_loss	0.5800
6:27147148:AAGGC:A	donor_gain	0.5500
6:27147149:AGGC:A	donor_gain	0.5500
6:27147152:C:CA	donor_gain	0.5500
6:27147237:AAG:A	acceptor_gain	0.4900
6:27147155:TA:T	donor_gain	0.4700
6:27147156:AA:A	donor_gain	0.4700
6:27147157:AA:A	donor_gain	0.4700
6:27147296:G:GT	donor_gain	0.4600
6:27147136:G:GT	donor_gain	0.4300
6:27147158:A:G	donor_gain	0.4300
6:27147447:G:GA	donor_gain	0.4300
6:27147244:A:G	donor_loss	0.4200
6:27147143:C:T	donor_gain	0.4000
6:27147385:T:A	acceptor_gain	0.3900
6:27147241:G:GG	donor_gain	0.3800

AlphaMissense

804 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:27147300:T:C	Y58H	1.000
6:27147325:T:C	L66P	1.000
6:27147330:G:C	G68R	1.000
6:27147330:G:T	G68C	1.000
6:27147331:G:A	G68D	1.000
6:27147331:G:T	G68V	1.000
6:27147340:C:A	A71D	1.000
6:27147385:T:C	L86P	1.000
6:27147399:G:C	D91H	1.000
6:27147400:A:C	D91A	1.000
6:27147400:A:T	D91V	1.000
6:27147444:G:C	G106R	1.000
6:27147193:C:A	A22D	0.999
6:27147195:G:T	G23W	0.999
6:27147199:T:A	L24H	0.999
6:27147205:T:C	F26S	0.999
6:27147213:G:C	G29R	0.999
6:27147214:G:A	G29D	0.999
6:27147262:G:A	G45E	0.999
6:27147286:C:A	A53D	0.999
6:27147288:G:C	A54P	0.999
6:27147289:C:A	A54E	0.999
6:27147295:T:C	L56P	0.999
6:27147297:G:A	E57K	0.999
6:27147298:A:T	E57V	0.999
6:27147304:T:C	L59P	0.999
6:27147309:G:C	A61P	0.999
6:27147310:C:A	A61D	0.999
6:27147312:G:A	E62K	0.999
6:27147313:A:T	E62V	0.999

dbSNP variants (sampled 300 via entrez): RS1000523775 (6:27147863 C>T), RS1001361991 (6:27148034 G>C), RS1001502335 (6:27147739 C>G,T), RS1001547777 (6:27145410 C>G,T), RS1001641087 (6:27145697 A>G), RS1003095047 (6:27145331 CACACACA>C), RS1003560703 (6:27147037 A>G), RS1003654195 (6:27147118 T>C), RS1005112769 (6:27146233 G>A), RS1005704468 (6:27146853 A>C,G), RS1006256082 (6:27147017 T>C), RS1007212088 (6:27146868 C>A,G,T), RS1007348441 (6:27145115 C>A), RS1008356049 (6:27146181 A>G), RS1009638899 (6:27147446 T>C)

Disease associations

OMIM: gene MIM:615013 | 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
GCST004067_20	Hip circumference adjusted for BMI	1.000000e-08
GCST004067_213	Hip circumference adjusted for BMI	8.000000e-06
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_116	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_166	Autism spectrum disorder or schizophrenia	4.000000e-24
GCST004521_208	Autism spectrum disorder or schizophrenia	5.000000e-17
GCST004521_215	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_286	Autism spectrum disorder or schizophrenia	5.000000e-08
GCST004521_57	Autism spectrum disorder or schizophrenia	1.000000e-20
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
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
GCST010142_74	Fish- and plant-related diet	9.000000e-09
GCST010142_82	Fish- and plant-related diet	3.000000e-08
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16
GCST90016674_16	Liver iron content	5.000000e-112

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	3
bisphenol A	decreases expression, affects cotreatment, increases expression	2
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
hydroquinone	decreases expression	1
phenethyl isothiocyanate	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
licochalcone B	increases expression	1
incobotulinumtoxinA	decreases expression	1
(+)-JQ1 compound	increases expression	1
MT19c compound	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	affects cotreatment, decreases expression	1
Aminoglutethimide	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Berberine	decreases expression	1
Cannabidiol	decreases expression	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Folic Acid	affects cotreatment, decreases expression	1
Hydrogen Peroxide	decreases expression	1
Ivermectin	decreases expression	1
Lucanthone	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
N-Nitrosopyrrolidine	decreases expression	1
Oxygen	decreases expression	1
Paraoxon	decreases expression	1
Phenolsulfonphthalein	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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