MEAF6

Summary

MEAF6 (MYST/Esa1 associated factor 6, HGNC:25674) is a protein-coding gene on chromosome 1p34.3, encoding Chromatin modification-related protein MEAF6 (Q9HAF1). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. It is a selective cancer dependency (DepMap: 24.5% of cell lines).

This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 64769 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 29 total
• Cancer dependency (DepMap): dependent in 24.5% of screened cell lines
• MANE Select transcript: NM_001270875

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25674
Approved symbol	MEAF6
Name	MYST/Esa1 associated factor 6
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	NY-SAR-91, FLJ11730, Eaf6, CENP-28
Ensembl gene	ENSG00000163875
Ensembl biotype	protein_coding
OMIM	611001
Entrez	64769

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000296214, ENST00000373073, ENST00000373074, ENST00000373075, ENST00000448519, ENST00000475828, ENST00000485039, ENST00000487788, ENST00000487792, ENST00000932687

RefSeq mRNA: 3 — MANE Select: NM_001270875 NM_001270875, NM_001270876, NM_022756

CCDS: CCDS418, CCDS59195, CCDS59196

Canonical transcript exons

ENST00000296214 — 7 exons

Exon	Start	End
ENSE00001914267	37514657	37514766
ENSE00001956064	37489993	37494107
ENSE00003461849	37509278	37509323
ENSE00003491018	37509455	37509542
ENSE00003507084	37495885	37495918
ENSE00003673878	37501804	37501996
ENSE00003694700	37513423	37513538

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 98.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.8132 / max 266.3228, expressed in 1827 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11782	47.8132	1827

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.19	gold quality
oocyte	CL:0000023	97.56	gold quality
ganglionic eminence	UBERON:0004023	97.26	gold quality
calcaneal tendon	UBERON:0003701	97.01	gold quality
adenohypophysis	UBERON:0002196	97.00	gold quality
pituitary gland	UBERON:0000007	96.87	gold quality
pons	UBERON:0000988	96.68	gold quality
secondary oocyte	CL:0000655	96.67	gold quality
islet of Langerhans	UBERON:0000006	96.41	gold quality
seminal vesicle	UBERON:0000998	96.23	gold quality
bronchial epithelial cell	CL:0002328	96.15	gold quality
prefrontal cortex	UBERON:0000451	96.15	gold quality
hypothalamus	UBERON:0001898	96.06	gold quality
epithelium of nasopharynx	UBERON:0001951	95.99	gold quality
gall bladder	UBERON:0002110	95.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.68	gold quality
anterior cingulate cortex	UBERON:0009835	95.62	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.62	gold quality
cingulate cortex	UBERON:0003027	95.58	gold quality
ventricular zone	UBERON:0003053	95.55	gold quality
adult organism	UBERON:0007023	95.51	gold quality
palpebral conjunctiva	UBERON:0001812	95.42	gold quality
nucleus accumbens	UBERON:0001882	95.31	gold quality
sperm	CL:0000019	95.24	gold quality
superior vestibular nucleus	UBERON:0007227	95.18	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.12	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.11	gold quality
monocyte	CL:0000576	94.98	gold quality
popliteal artery	UBERON:0002250	94.98	gold quality
tibial artery	UBERON:0007610	94.97	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	26.99
E-CURD-7	no	5456.12
E-CURD-112	no	2.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BRPF1

miRNA regulators (miRDB)

137 targeting MEAF6, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-9983-3P	99.94	71.48	3631

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 24.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors. (PMID:24285434)
• present two more ESS with MEAF6/PHF1 detected by transcriptome sequencing (case 1) and RT-PCR (case 2), proving that this fusion is recurrent in ESS (PMID:24530230)
• These findings suggest that the MEAF6-1 variant does not induce neuroendocrine differentiation of prostate cancer cells, but rather facilitates t-NEPC progression by increasing the proliferation rate of cells that have acquired neuroendocrine phenotypes. (PMID:28427194)
• MiR-197-3p reduces bortezomib resistance in multiple myeloma by inhibiting IL-6 expression in a MEAF6-dependent manner. (PMID:35074616)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	meaf6	ENSDARG00000101216
mus_musculus	Meaf6	ENSMUSG00000028863
rattus_norvegicus	Meaf6	ENSRNOG00000009309
drosophila_melanogaster	Eaf6	FBGN0035624
caenorhabditis_elegans	B0025.4	WBGENE00015001

Protein

Protein identifiers

Chromatin modification-related protein MEAF6 — Q9HAF1 (reviewed: Q9HAF1)

Alternative names: Esa1-associated factor 6 homolog, Sarcoma antigen NY-SAR-91

All UniProt accessions (2): B1AK63, Q9HAF1

UniProt curated annotations — full annotation on UniProt →

Function. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at ‘Lys-14’ (H3K14ac), and have reduced activity toward histone H4. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Subunit / interactions. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5 and the subunits EP400, TRRAP, BRD8, EPC1, DMAP1, RUVBL1, RUVBL2, ING3, actin, ACTL6A, MORF4L1, MORF4L2, MRGBP, YEATS4, VPS72 and MEAF6. Component of the HBO1 complex composed of KAT7/HBO1, MEAF6, ING4 or ING5, and one scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE scaffold (JADE1, JADE2 and JADE3) mediate acetylation of histone H4. Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3.

Subcellular location. Nucleus. Nucleolus. Chromosome. Centromere. Kinetochore.

Disease relevance. A chromosomal aberration involving MEAF6 may be a cause of endometrial stromal tumors. Translocation t(1;6)(p34;p21) with PHF1.

Similarity. Belongs to the EAF6 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9HAF1-1	1	yes
Q9HAF1-2	2
Q9HAF1-3	3
Q9HAF1-4	4

RefSeq proteins (3): NP_001257804, NP_001257805, NP_073593 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015418	Eaf6	Family

Pfam: PF09340

UniProt features (22 total): modified residue 6, compositionally biased region 4, cross-link 3, splice variant 3, sequence conflict 2, initiator methionine 1, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAF1-F1	71.43	0.34

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 (9): 69, 74, 118, 120, 69, 113, 113, 2, 6

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-6804758	Regulation of TP53 Activity through Acetylation

MSigDB gene sets: 167 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_GROWTH, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, CACCAGC_MIR138, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_HEMOPOIESIS, INAMURA_LUNG_CANCER_SCC_SUBTYPES_UP, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_CELL_CYCLE, chr1p34, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE

GO Biological Process (13): regulation of cell growth (GO:0001558), regulation of DNA replication (GO:0006275), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of apoptotic process (GO:0042981), positive regulation of DNA-templated transcription (GO:0045893), regulation of developmental process (GO:0050793), regulation of cell cycle (GO:0051726), regulation of hemopoiesis (GO:1903706), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of DNA biosynthetic process (GO:2000278), regulation of double-strand break repair (GO:2000779), chromatin organization (GO:0006325)

GO Molecular Function (5): protein binding (GO:0005515), histone H3K14 acetyltransferase activity (GO:0036408), histone H4K5 acetyltransferase activity (GO:0043995), histone H4K8 acetyltransferase activity (GO:0043996), histone H4K12 acetyltransferase activity (GO:0043997)

GO Cellular Component (10): histone acetyltransferase complex (GO:0000123), kinetochore (GO:0000776), nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), NuA4 histone acetyltransferase complex (GO:0035267), MOZ/MORF histone acetyltransferase complex (GO:0070776), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Regulation of TP53 Activity	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
histone H4 acetyltransferase activity	3
intracellular membraneless organelle	3
regulation of DNA metabolic process	2
DNA-templated transcription	2
chromatin	2
nuclear lumen	2
cell growth	1
regulation of growth	1
regulation of cellular component organization	1
DNA replication	1
chromatin organization	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
apoptotic process	1
regulation of programmed cell death	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
developmental process	1
regulation of biological process	1
cell cycle	1
regulation of cellular process	1
regulation of immune system process	1
hemopoiesis	1
regulation of cell development	1
regulation of multicellular organismal development	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair via homologous recombination	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
regulation of macromolecule biosynthetic process	1
DNA biosynthetic process	1
regulation of DNA repair	1
double-strand break repair	1
cellular component organization	1
binding	1
histone H3 acetyltransferase activity	1
protein acetyltransferase complex	1
condensed chromosome, centromeric region	1
supramolecular complex	1
protein-DNA complex	1

Protein interactions and networks

STRING

1022 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MEAF6	ING5	Q8WYH8	995
MEAF6	ING4	Q9UNL4	993
MEAF6	BRPF1	P55201	984
MEAF6	JADE1	Q6IE81	962
MEAF6	EPC1	Q9H2F5	960
MEAF6	MORF4L1	Q9UBU8	959
MEAF6	KAT7	O95251	955
MEAF6	YEATS4	O95619	942
MEAF6	ASXL2	Q76L83	929
MEAF6	KAT6B	Q8WYB5	923
MEAF6	BRD8	Q9H0E9	911
MEAF6	KAT5	Q92993	904
MEAF6	DMAP1	Q9NPF5	893
MEAF6	ING3	Q9NXR8	872
MEAF6	MRGBP	Q9NV56	866

IntAct

102 interactions, top by confidence:

A	B	Type	Score
RUVBL1	ZNHIT1	psi-mi:“MI:0914”(association)	0.860
MRGBP	YEATS4	psi-mi:“MI:0914”(association)	0.840
YEATS4	ZNHIT1	psi-mi:“MI:0914”(association)	0.790
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
L3MBTL2	MEAF6	psi-mi:“MI:0915”(physical association)	0.740
MEAF6	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.740
MBTD1	YEATS4	psi-mi:“MI:0914”(association)	0.730
MORF4L1	SIN3B	psi-mi:“MI:0914”(association)	0.730
ACTL6A	ZNHIT1	psi-mi:“MI:0914”(association)	0.720
MEAF6	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.700
PLEKHF2	MEAF6	psi-mi:“MI:0915”(physical association)	0.700
VPS72	ZNHIT1	psi-mi:“MI:0914”(association)	0.690
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
FOXR1	YEATS4	psi-mi:“MI:0914”(association)	0.640
RUVBL1	POLR3A	psi-mi:“MI:0914”(association)	0.640
FXR2	MEAF6	psi-mi:“MI:0915”(physical association)	0.620
MEAF6	LDOC1	psi-mi:“MI:0915”(physical association)	0.560
MEAF6	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
LDOC1	MEAF6	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (213): MEAF6 (Two-hybrid), MEAF6 (Two-hybrid), PLEKHF2 (Two-hybrid), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), L3MBTL2 (Two-hybrid), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), MEAF6 (Two-hybrid), MEAF6 (Two-hybrid)

ESM2 similar proteins: A1L209, A1Z7A6, A5DDB7, B0W8L4, B1PM81, B3M881, B3N3F7, B3NHQ1, B4GZZ4, B4IFU5, B4J1U4, B4J1U5, B4KY72, B4LDA6, B4MVH6, B4N4E1, B4PJ01, B4QPV0, D9PTN5, O42871, O59800, O94519, P30630, P52654, Q12432, Q17CJ5, Q2LYX9, Q2VPQ9, Q4P3S3, Q4WTT2, Q58CU0, Q5AHB8, Q5FC18, Q68ER9, Q6AW06, Q6AZD3, Q6BNL6, Q6C3L4, Q6CND0, Q7JVP4

Diamond homologs: O14240, Q2VPQ9, Q52KD8, Q58CU0, Q59QC2, Q5ZIX3, Q68ER9, Q6AZD3, Q6BI21, Q6C626, Q9HAF1, Q9VRN3, P47128, Q6CPA6, Q75BT5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MEAF6	“form complex”	“NuA4 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 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
HATs acetylate histones	18	28.6×	1e-19
Chromatin organization	14	22.8×	1e-13
Chromatin modifying enzymes	14	20.2×	4e-13
Formation of the beta-catenin:TCF transactivating complex	6	14.4×	3e-04
G2/M DNA damage checkpoint	5	12.0×	3e-03
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	5	12.0×	3e-03
Processing of DNA double-strand break ends	5	11.4×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of double-strand break repair	11	79.9×	2e-16
positive regulation of double-strand break repair via homologous recombination	12	57.5×	3e-16
regulation of DNA replication	7	32.1×	2e-07
regulation of cell cycle	17	15.8×	7e-14
regulation of apoptotic process	12	12.5×	2e-08
chromatin remodeling	10	9.1×	9e-06
DNA repair	7	5.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

29 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

1753 predictions. Top by Δscore:

Variant	Effect	Δscore
1:37496751:T:C	acceptor_gain	1.0000
1:37501799:CTGA:C	donor_loss	1.0000
1:37501800:TGAC:T	donor_loss	1.0000
1:37501801:GACCT:G	donor_loss	1.0000
1:37501802:ACCT:A	donor_loss	1.0000
1:37501803:C:G	donor_loss	1.0000
1:37501851:C:CA	donor_gain	1.0000
1:37501891:C:CA	donor_gain	1.0000
1:37501992:CTCCC:C	acceptor_gain	1.0000
1:37501993:TCCC:T	acceptor_gain	1.0000
1:37501994:CCC:C	acceptor_gain	1.0000
1:37501994:CCCC:C	acceptor_gain	1.0000
1:37501995:CC:C	acceptor_gain	1.0000
1:37501995:CCC:C	acceptor_gain	1.0000
1:37501996:CC:C	acceptor_gain	1.0000
1:37501997:C:CC	acceptor_gain	1.0000
1:37501998:T:A	acceptor_loss	1.0000
1:37502006:A:AC	acceptor_gain	1.0000
1:37502006:A:C	acceptor_gain	1.0000
1:37509271:AACTT:A	donor_loss	1.0000
1:37509272:ACTT:A	donor_loss	1.0000
1:37509275:TA:T	donor_loss	1.0000
1:37509276:A:AC	donor_gain	1.0000
1:37509276:ACT:A	donor_gain	1.0000
1:37509277:C:CC	donor_gain	1.0000
1:37509277:CT:C	donor_gain	1.0000
1:37509277:CTC:C	donor_gain	1.0000
1:37509449:A:AC	donor_gain	1.0000
1:37509450:C:CC	donor_gain	1.0000
1:37509450:CTT:C	donor_loss	1.0000

AlphaMissense

1259 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:37509463:A:G	S96P	1.000
1:37509465:G:A	T95I	1.000
1:37509468:A:T	V94D	1.000
1:37509471:G:A	S93L	1.000
1:37509471:G:C	S93W	1.000
1:37509472:A:G	S93P	1.000
1:37509474:G:A	S92F	1.000
1:37509474:G:T	S92Y	1.000
1:37509475:A:G	S92P	1.000
1:37509479:A:C	S90R	1.000
1:37509479:A:T	S90R	1.000
1:37509480:C:A	S90I	1.000
1:37509480:C:T	S90N	1.000
1:37509481:T:G	S90R	1.000
1:37509482:G:C	F89L	1.000
1:37509482:G:T	F89L	1.000
1:37509483:A:C	F89C	1.000
1:37509483:A:G	F89S	1.000
1:37509484:A:C	F89V	1.000
1:37509484:A:G	F89L	1.000
1:37509484:A:T	F89I	1.000
1:37509486:A:C	L88R	1.000
1:37509486:A:G	L88P	1.000
1:37509486:A:T	L88H	1.000
1:37509489:C:G	R87P	1.000
1:37509490:G:A	R87W	1.000
1:37509490:G:C	R87G	1.000
1:37509492:T:A	E86V	1.000
1:37509493:C:T	E86K	1.000
1:37509503:A:C	F82L	1.000

dbSNP variants (sampled 300 via entrez): RS1000119161 (1:37516326 C>G,T), RS1000126373 (1:37506682 T>G), RS1000133048 (1:37506412 C>T), RS1000354757 (1:37512584 G>A), RS1000572228 (1:37494950 ATTAGAGCACC>A), RS1000688120 (1:37495117 G>A,T), RS1000715630 (1:37490126 A>G), RS1000739835 (1:37495449 T>A), RS1000830580 (1:37489861 TA>T), RS1000980879 (1:37501337 G>A), RS1001064698 (1:37495653 A>G), RS1001096045 (1:37507757 G>A), RS1001118570 (1:37502490 G>C), RS1001127051 (1:37508153 A>G), RS1001284128 (1:37514478 C>A)

Disease associations

OMIM: gene MIM:611001 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000080_17	Hemostatic factors and hematological phenotypes	4.000000e-06
GCST003476_2	Eyebrow thickness	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
bisphenol F	affects cotreatment, decreases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
methylmercuric chloride	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, affects expression, increases abundance	1
arsenite	affects binding, increases reaction	1
afimoxifene	decreases expression, decreases reaction	1
sodium arsenite	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
cylindrospermopsin	increases expression	1
K 7174	increases expression	1
abrine	decreases expression, increases expression	1
bisphenol S	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression, increases expression	1
Doxorubicin	decreases expression	1
Estrogens	decreases reaction, decreases expression	1
Indomethacin	affects cotreatment, decreases expression, increases expression	1
Oils, Volatile	increases abundance, affects cotreatment, affects expression	1
Phthalic Acids	decreases expression	1
Dihydrotestosterone	increases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression, increases expression	1
Cyclosporine	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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