H2AZ2

Summary

H2AZ2 (H2A.Z variant histone 2, HGNC:20664) is a protein-coding gene on chromosome 7p13, encoding Histone H2A.V (Q71UI9). Variant histone H2A which replaces conventional H2A in a subset of nucleosomes.

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 encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene.

Source: NCBI Gene 94239 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_012412

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20664
Approved symbol	H2AZ2
Name	H2A.Z variant histone 2
Location	7p13
Locus type	gene with protein product
Status	Approved
Aliases	MGC10170, MGC10831, MGC1947
Ensembl gene	ENSG00000105968
Ensembl biotype	protein_coding
OMIM	620008
Entrez	94239

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 14 protein_coding

ENST00000222690, ENST00000308153, ENST00000349299, ENST00000350771, ENST00000381124, ENST00000437072, ENST00000446531, ENST00000521529, ENST00000866934, ENST00000866935, ENST00000939088, ENST00000939089, ENST00000964620, ENST00000964621

RefSeq mRNA: 5 — MANE Select: NM_012412 NM_012412, NM_138635, NM_201436, NM_201516, NM_201517

CCDS: CCDS47581, CCDS5495, CCDS5496, CCDS5497, CCDS5498

Canonical transcript exons

ENST00000308153 — 5 exons

Exon	Start	End
ENSE00000000249	44831978	44834562
ENSE00001190758	44835529	44835658
ENSE00001190777	44843277	44843354
ENSE00001674827	44840899	44841012
ENSE00001957590	44847969	44848087

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 99.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 74.9331 / max 595.3434, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83901	74.9331	1825

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.42	gold quality
ganglionic eminence	UBERON:0004023	99.28	gold quality
endometrium epithelium	UBERON:0004811	98.80	gold quality
cranial nerve II	UBERON:0000941	98.78	gold quality
blood vessel layer	UBERON:0004797	98.21	gold quality
rectum	UBERON:0001052	97.89	gold quality
heart right ventricle	UBERON:0002080	97.84	gold quality
mucosa of transverse colon	UBERON:0004991	97.84	gold quality
colonic epithelium	UBERON:0000397	97.77	gold quality
endothelial cell	CL:0000115	97.75	gold quality
cardiac ventricle	UBERON:0002082	97.55	gold quality
heart left ventricle	UBERON:0002084	97.55	gold quality
calcaneal tendon	UBERON:0003701	97.54	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.53	gold quality
embryo	UBERON:0000922	97.48	gold quality
pigmented layer of retina	UBERON:0001782	97.40	gold quality
retina	UBERON:0000966	97.37	gold quality
heart	UBERON:0000948	97.32	gold quality
skin of hip	UBERON:0001554	97.32	gold quality
right testis	UBERON:0004534	97.30	gold quality
putamen	UBERON:0001874	97.25	gold quality
right atrium auricular region	UBERON:0006631	97.25	gold quality
postcentral gyrus	UBERON:0002581	97.24	gold quality
left testis	UBERON:0004533	97.24	gold quality
seminal vesicle	UBERON:0000998	97.23	gold quality
cerebellum	UBERON:0002037	97.23	gold quality
cerebellar hemisphere	UBERON:0002245	97.22	gold quality
lower esophagus	UBERON:0013473	97.21	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.21	gold quality
cerebellar cortex	UBERON:0002129	97.18	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	1076.90
E-CURD-112	yes	45.23
E-HCAD-1	yes	40.79
E-CURD-122	yes	25.32
E-HCAD-5	yes	25.11
E-CURD-46	yes	21.97
E-GEOD-125970	yes	20.28
E-HCAD-13	yes	19.83
E-MTAB-9067	yes	13.94
E-MTAB-6678	yes	10.36
E-CURD-88	yes	9.63
E-MTAB-10553	yes	9.51
E-MTAB-9689	no	545.18
E-MTAB-8884	no	518.74
E-MTAB-7037	no	264.05

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PARP1

miRNA regulators (miRDB)

46 targeting H2AZ2, 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-4425	100.00	67.59	1049
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
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-576-5P	99.84	70.46	2582
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
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-7153-3P	99.00	65.35	608

Literature-anchored findings (GeneRIF, showing 2)

• A mutational analysis revealed that the amino-acid difference at position 38 is at least partially responsible for the structural polymorphism in the L1 loop region of H2A.Z.1 and H2A.Z.2. (PMID:24311584)
• Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. (PMID:35072799)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	h2az2a	ENSDARG00000068820
danio_rerio	h2az2b	ENSDARG00000116491
mus_musculus	H2az2	ENSMUSG00000041126
rattus_norvegicus	H2az2l3	ENSRNOG00000013622
rattus_norvegicus	H2az1-ps2	ENSRNOG00000031564
rattus_norvegicus	H2az2l2	ENSRNOG00000038771
rattus_norvegicus	H2az2	ENSRNOG00000052275
drosophila_melanogaster	His2Av	FBGN0001197

Paralogs (27): MACROH2A2 (ENSG00000099284), 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), 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.V — Q71UI9 (reviewed: Q71UI9)

Alternative names: H2A.F/Z, H2A.Z variant histone 2

All UniProt accessions (4): Q71UI9, C9J0D1, C9J386, E5RJU1

UniProt curated annotations — full annotation on UniProt →

Function. Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. 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. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.

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. H2A or its variant H2AZ2 forms a heterodimer with H2B.

Subcellular location. Nucleus. Chromosome.

Post-translational modifications. Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression. Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis.

Similarity. Belongs to the histone H2A family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q71UI9-1	1	yes
Q71UI9-2	2
Q71UI9-3	3
Q71UI9-4	4
Q71UI9-5	5

RefSeq proteins (5): NP_036544, NP_619541, NP_958844, NP_958924, NP_958925 (=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 (24 total): helix 6, modified residue 6, splice variant 4, strand 2, initiator methionine 1, chain 1, sequence variant 1, turn 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3WAA	X-RAY DIFFRACTION	3.2
6M4D	ELECTRON MICROSCOPY	4.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q71UI9-F1	90.51	0.83

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 (6): 5, 8, 12, 12, 14, 116

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: 314 (showing top): REACTOME_MEIOTIC_RECOMBINATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, HORIUCHI_WTAP_TARGETS_DN, HNF3ALPHA_Q6, YAGI_AML_WITH_INV_16_TRANSLOCATION, E2F4DP1_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEIOTIC_SYNAPSIS, PAL_PRMT5_TARGETS_UP, MORF_UBE2I, MORF_HDAC1, FOXO4_01, FOXO1_01

GO Biological Process (2): chromatin organization (GO:0006325), heterochromatin formation (GO:0031507)

GO Molecular Function (4): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982), molecular adaptor activity (GO:0060090)

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 organization	1
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
molecular_function	1
binding	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

3120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
H2AZ2	EP400	Q96L91	796
H2AZ2	H2BC21	Q16778	717
H2AZ2	KAT5	Q92993	714
H2AZ2	YEATS4	O95619	661
H2AZ2	RUVBL1	P82276	657
H2AZ2	SRCAP	Q6ZRS2	630
H2AZ2	MYO1G	B0I1T2	623
H2AZ2	DMAP1	Q9NPF5	615
H2AZ2	ATM	Q13315	599
H2AZ2	BRD2	P25440	595
H2AZ2	MORF4L1	Q9UBU8	589
H2AZ2	RUVBL2	Q9Y230	582
H2AZ2	BRD8	Q9H0E9	548
H2AZ2	LGALS4	P56470	541
H2AZ2	ZNHIT1	O43257	538

IntAct

55 interactions, top by confidence:

A	B	Type	Score
PKMYT1	CCNB2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CBX1	KPNA3	psi-mi:“MI:0914”(association)	0.530
H2AZ2	GRK1	psi-mi:“MI:0915”(physical association)	0.400
H2AZ2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
H2AZ2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
H2AZ2	HIST2H2BF	psi-mi:“MI:0915”(physical association)	0.400
GSK3A	H2AZ2	psi-mi:“MI:0915”(physical association)	0.370
Cbx1		psi-mi:“MI:0914”(association)	0.350
Cul4a	GPS1	psi-mi:“MI:0914”(association)	0.350
TM9SF4		psi-mi:“MI:0914”(association)	0.350
NPM1	RPSA	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
ORF73	ECI2	psi-mi:“MI:0914”(association)	0.350
COQ2	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
COX15	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350
DLST		psi-mi:“MI:0914”(association)	0.350
VDAC1	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
COQ2	RSL1D1	psi-mi:“MI:0914”(association)	0.350
COX15	MYO1C	psi-mi:“MI:0914”(association)	0.350
DLD	IRS4	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL4A	HAX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (195): H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Proximity Label-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Biochemical Activity), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS), H2AFV (Affinity Capture-MS)

ESM2 similar proteins: A1L1L1, A2R702, A4QVR2, G2TRL2, O23628, O62695, O97484, P02272, P02288, P06353, P06902, P08985, P09589, P09590, P0C0S4, P0C0S5, P0C0S6, P0C0S7, P0C5Y9, P0C5Z0, P13630, P16890, P22647, P40285, P48003, P69141, P69142, Q09FM9, Q1DTG2, Q27489, Q2UJ80, Q32LA7, Q3THW5, Q3URR0, Q55BN9, Q5BJ65, Q5EE01, Q5RC42, Q5ZMD6, Q6GM74

Diamond homologs: A1A4R1, A1C5F1, A1CJ10, A1D0C1, A1D8G8, A2R702, A3GHC1, A4QVR2, A5DQL2, A5DXC6, A9UMV8, C0HKE1, L7HZV6, O23628, O62695, O74268, P02272, P02273, P02274, P04735, P04908, P04909, P04910, P08844, P08985, P08991, P08992, P0C0S4, P0C0S5, P0C0S6, P0C0S7, P0C952, P0C953, P0CO00, P0CO01, P0CT12, P13912, P16865, P16866, P22647

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SLBP	“up-regulates quantity by expression”	H2AZ2	“translation regulation”
DZIP3	“up-regulates activity”	H2AZ2	monoubiquitination
H2AZ2	“form complex”	“Nucleosome_H2A.Z.2 variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 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
Regulation of RAS by GAPs	5	18.6×	4e-03
Neddylation	7	6.4×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

657 predictions. Top by Δscore:

Variant	Effect	Δscore
7:44834560:CAC:C	acceptor_gain	1.0000
7:44834561:ACC:A	acceptor_loss	1.0000
7:44834562:CCTAG:C	acceptor_loss	1.0000
7:44835525:ATACC:A	donor_loss	1.0000
7:44835527:A:T	donor_loss	1.0000
7:44835527:ACCAC:A	donor_gain	1.0000
7:44835528:CCA:C	donor_gain	1.0000
7:44835528:CCACC:C	donor_gain	1.0000
7:44835545:AG:A	donor_gain	1.0000
7:44835657:ACCTA:A	acceptor_loss	1.0000
7:44841013:C:CC	acceptor_gain	1.0000
7:44847963:CCTTA:C	donor_loss	1.0000
7:44847966:TA:T	donor_loss	1.0000
7:44847967:A:AC	donor_gain	1.0000
7:44847967:AC:A	donor_gain	1.0000
7:44847967:ACC:A	donor_loss	1.0000
7:44847968:C:CC	donor_gain	1.0000
7:44847968:CC:C	donor_gain	1.0000
7:44834558:CACAC:C	acceptor_gain	0.9900
7:44834561:AC:A	acceptor_gain	0.9900
7:44834562:CC:C	acceptor_gain	0.9900
7:44834563:C:CC	acceptor_gain	0.9900
7:44834564:T:A	acceptor_loss	0.9900
7:44835527:A:AC	donor_gain	0.9900
7:44835527:AC:A	donor_gain	0.9900
7:44835528:C:CC	donor_gain	0.9900
7:44835528:CC:C	donor_gain	0.9900
7:44835570:TCATC:T	donor_gain	0.9900
7:44840887:T:A	donor_gain	0.9900
7:44843271:CATTA:C	donor_loss	0.9900

AlphaMissense

814 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:44835529:C:G	G109R	1.000
7:44835531:C:A	G108V	1.000
7:44835540:A:T	I105K	1.000
7:44835564:A:G	L97S	1.000
7:44835568:C:T	E96K	1.000
7:44835572:A:C	D94E	1.000
7:44835572:A:T	D94E	1.000
7:44835573:T:A	D94V	1.000
7:44835573:T:C	D94G	1.000
7:44835573:T:G	D94A	1.000
7:44835574:C:G	D94H	1.000
7:44835577:C:G	G93R	1.000
7:44835579:C:G	R92P	1.000
7:44835582:A:T	I91N	1.000
7:44835585:G:A	A90V	1.000
7:44835585:G:T	A90E	1.000
7:44835586:C:G	A90P	1.000
7:44835588:A:G	L89P	1.000
7:44835601:G:T	R85S	1.000
7:44835603:G:T	P84Q	1.000
7:44835609:A:T	I82N	1.000
7:44835636:G:T	A73D	1.000
7:44835642:C:A	G71V	1.000
7:44835642:C:T	G71D	1.000
7:44835643:C:A	G71C	1.000
7:44835643:C:G	G71R	1.000
7:44835645:G:T	A70E	1.000
7:44835648:A:G	L69P	1.000
7:44835651:T:A	E68V	1.000
7:44835652:C:T	E68K	1.000

dbSNP variants (sampled 300 via entrez): RS1000001425 (7:44847106 C>A,G,T), RS1000108789 (7:44832991 T>C), RS1000120791 (7:44833559 C>A), RS1000313423 (7:44844246 T>C), RS1000414261 (7:44837338 G>A), RS1000454211 (7:44845472 C>G,T), RS1000632449 (7:44850083 T>C), RS1000683632 (7:44843856 C>A,G), RS1000723479 (7:44849848 C>T), RS1000754830 (7:44830879 G>C), RS1001181720 (7:44839587 T>C,G), RS1001252472 (7:44837061 A>G), RS1001322072 (7:44832658 G>A,C), RS1001521243 (7:44849707 C>T), RS1001607632 (7:44849527 G>A)

Disease associations

OMIM: gene MIM:620008 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004599_50	Mean platelet volume	3.000000e-11
GCST004602_127	Mean corpuscular volume	6.000000e-20
GCST004607_154	Plateletcrit	2.000000e-50
GCST90002390_244	Mean corpuscular hemoglobin	8.000000e-41
GCST90002392_720	Mean corpuscular volume	9.000000e-41
GCST90002397_502	Mean spheric corpuscular volume	1.000000e-67
GCST90002400_611	Plateletcrit	5.000000e-107
GCST90002402_18	Platelet count	3.000000e-54
GCST90002403_571	Red blood cell count	7.000000e-37
GCST90002404_287	Red cell distribution width	4.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004527	mean corpuscular hemoglobin
EFO:0004309	platelet count
EFO:0004305	erythrocyte count
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects expression, decreases expression	4
Valproic Acid	affects expression, increases expression	4
Cyclosporine	decreases expression	3
bisphenol A	affects expression, decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Estradiol	affects expression, affects cotreatment, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
diethyl maleate	increases expression	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
diallyl trisulfide	decreases expression	1
deguelin	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
abrine	decreases expression	1
ON 01910	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
picoxystrobin	increases expression	1
NSC 689534	affects binding, decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1

Clinical trials (associated diseases)

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