EME1

Summary

EME1 (essential meiotic structure-specific endonuclease 1, HGNC:24965) is a protein-coding gene on chromosome 17q21.33, encoding Structure-specific endonuclease subunit EME1 (Q96AY2). Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME1 which is involved in the maintenance of genome stability.

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3’-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 146956 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_152463

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24965
Approved symbol	EME1
Name	essential meiotic structure-specific endonuclease 1
Location	17q21.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31364, MMS4L, SLX2A
Ensembl gene	ENSG00000154920
Ensembl biotype	protein_coding
OMIM	610885
Entrez	146956

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000338165, ENST00000393271, ENST00000507616, ENST00000510007, ENST00000510246, ENST00000511519, ENST00000511648, ENST00000511711, ENST00000513077, ENST00000514211, ENST00000927716, ENST00000927717, ENST00000927718, ENST00000948328

RefSeq mRNA: 2 — MANE Select: NM_152463 NM_001166131, NM_152463

CCDS: CCDS11565, CCDS54141

Canonical transcript exons

ENST00000338165 — 9 exons

Exon	Start	End
ENSE00000947016	50380312	50380501
ENSE00001365956	50375185	50375983
ENSE00002023730	50380763	50381483
ENSE00003460853	50378774	50378895
ENSE00003501526	50379452	50379567
ENSE00003559860	50379107	50379224
ENSE00003689807	50376066	50376193
ENSE00003690876	50378595	50378681
ENSE00003901181	50373229	50373277

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 96.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2810 / max 136.6362, expressed in 1077 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161658	4.2493	1075
161660	0.0235	2
161659	0.0082	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cauda epididymis	UBERON:0004360	96.68	gold quality
corpus epididymis	UBERON:0004359	96.28	gold quality
tendon of biceps brachii	UBERON:0008188	92.35	gold quality
oviduct epithelium	UBERON:0004804	89.99	gold quality
ileal mucosa	UBERON:0000331	89.82	gold quality
pancreatic ductal cell	CL:0002079	86.49	gold quality
oocyte	CL:0000023	85.97	gold quality
endothelial cell	CL:0000115	84.36	gold quality
right testis	UBERON:0004534	82.26	gold quality
left testis	UBERON:0004533	82.23	gold quality
secondary oocyte	CL:0000655	82.14	gold quality
testis	UBERON:0000473	82.08	gold quality
epithelial cell of pancreas	CL:0000083	81.98	gold quality
ventricular zone	UBERON:0003053	81.79	gold quality
duodenum	UBERON:0002114	81.41	gold quality
tibialis anterior	UBERON:0001385	81.37	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.13	gold quality
ganglionic eminence	UBERON:0004023	80.17	gold quality
cartilage tissue	UBERON:0002418	79.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.95	gold quality
trabecular bone tissue	UBERON:0002483	77.87	gold quality
caput epididymis	UBERON:0004358	77.80	gold quality
amniotic fluid	UBERON:0000173	77.61	gold quality
bone marrow	UBERON:0002371	77.10	gold quality
seminal vesicle	UBERON:0000998	77.06	gold quality
medial globus pallidus	UBERON:0002477	76.70	gold quality
nasal cavity epithelium	UBERON:0005384	76.51	silver quality
stromal cell of endometrium	CL:0002255	76.46	gold quality
sperm	CL:0000019	76.36	gold quality
bone marrow cell	CL:0002092	75.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-81383	no	48.48
E-ANND-3	no	2.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT3

miRNA regulators (miRDB)

44 targeting EME1, 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-8485	100.00	77.57	4731
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-5006-5P	98.79	66.92	1246

Literature-anchored findings (GeneRIF, showing 13)

• EME-1 deficiency affects cell cycle progression and promotes DNA rereplication. (PMID:16456034)
• Mus81-Eme1 can ensure coordinate, bilateral cleavage of Holliday junction-like structures. (PMID:18310322)
• the crystal structure of the Mus81-Eme1 complex (PMID:18413719)
• results demonstrate a link between branch migration activity of hRad54 and structure-specific endonuclease activity of hMus81-Eme1, suggesting that the Rad54 and Mus81-Eme1 proteins may cooperate in the processing of Holliday junction-like intermediates (PMID:19017809)
• Low Eme1 levels were more sensitive to the drug than tumors with high levels. (PMID:19267403)
• Data show that Mus81/Eme1-dependent DNA damage–rather than a global increase in replication-fork stalling–is the cause of incomplete replication in Chk1-deficient cells. (PMID:21858151)
• Results demonstrate a novel role of Wee1 in controlling Mus81-Eme1 and DNA replication in human cells. (PMID:21859861)
• Data show that three structure-selective endonucleases, SLX1-SLX4, MUS81-EME1, and GEN1, define two pathways of Holliday junctions (HJs) resolution in HeLa cells. (PMID:24076221)
• While Mus81-Eme1 shares several common features with members of the 5’ flap nuclease family, the combined structural, biochemical, and biophysical analyses explain why Mus81-Eme1 preferentially cleaves 3’ flap DNA substrates with 5’ nicked ends. (PMID:24733841)
• SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr). (PMID:27354282)
• The data suggest that subnuclear relocalization is relevant for the function of Mus81-Mms4 complex in response to DNA damage and, probably, of the endonucleases that colocalize with it. (PMID:28813668)
• EME1 is regulated by CK2 in mitosis and after replication stress. (PMID:29850896)
• Mus81-Eme1-dependent aberrant processing of DNA replication intermediates in mitosis impairs genome integrity. (PMID:33298441)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	eme1	ENSDARG00000076913
mus_musculus	Eme1	ENSMUSG00000039055
rattus_norvegicus	Eme1	ENSRNOG00000024420
drosophila_melanogaster	mms4	FBGN0033549

Paralogs (1): EME2 (ENSG00000197774)

Protein

Protein identifiers

Structure-specific endonuclease subunit EME1 — Q96AY2 (reviewed: Q96AY2)

Alternative names: Crossover junction endonuclease EME1, Essential meiotic structure-specific endonuclease 1, MMS4 homolog

All UniProt accessions (4): Q96AY2, D6RIT8, F8W714, H0Y9Z4

UniProt curated annotations — full annotation on UniProt →

Function. Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME1 which is involved in the maintenance of genome stability. In the complex, EME1 is required for DNA cleavage, participating in DNA recognition and bending. MUS81-EME1 cleaves 3’-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5’ flaps and nicked double-stranded DNAs. Active during prometaphase, MUS81-EME1 resolves mitotic recombination intermediates, including Holliday junctions, which form during homologous recombination.

Subunit / interactions. Part of the heterodimeric MUS81-EME1 complex.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the EME1/MMS4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96AY2-1	1	yes
Q96AY2-2	2

RefSeq proteins (2): NP_001159603, NP_689676* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006166	ERCC4_domain	Domain
IPR033310	Mms4/EME1/EME2	Family
IPR042530	EME1/EME2_C	Homologous_superfamily
IPR043086	EME1_nucdom_sub1	Homologous_superfamily
IPR043087	Eme1_nucdom_sub2	Homologous_superfamily
IPR047522	XPF_nuclease_EME1_vertebrates	Domain

Pfam: PF02732, PF21292

UniProt features (63 total): strand 14, helix 13, modified residue 8, sequence variant 6, region of interest 5, mutagenesis site 4, turn 4, cross-link 3, compositionally biased region 3, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

14 structures.

PDB	Method	Resolution (Å)
9F9L	X-RAY DIFFRACTION	2.02
9F98	X-RAY DIFFRACTION	2.15
9F9M	X-RAY DIFFRACTION	2.47
2ZIU	X-RAY DIFFRACTION	2.7
2ZIV	X-RAY DIFFRACTION	2.7
9F9K	X-RAY DIFFRACTION	2.73
2ZIW	X-RAY DIFFRACTION	2.8
4P0P	X-RAY DIFFRACTION	2.8
9F99	X-RAY DIFFRACTION	2.8
4P0Q	X-RAY DIFFRACTION	2.85
9F9A	X-RAY DIFFRACTION	2.91
2ZIX	X-RAY DIFFRACTION	3.5
4P0S	X-RAY DIFFRACTION	6
4P0R	X-RAY DIFFRACTION	6.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96AY2-F1	67.81	0.38

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 (11): 15, 84, 85, 87, 111, 117, 150, 103, 136, 141, 12

Mutagenesis-validated functional residues (4):

Position	Phenotype
491	loss of endonuclease activity; when associated with w-493.
493	loss of endonuclease activity; when associated with e-491.
534	decreased endonuclease activity; when associated with y-541.
541	decreased endonuclease activity; when associated with e-534.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-6783310	Fanconi Anemia Pathway

MSigDB gene sets: 225 (showing top): GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_CHROMOSOME_ORGANIZATION, GOMF_ENDONUCLEASE_ACTIVITY, RORA1_01, GOMF_NUCLEASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_TELOMERE_ORGANIZATION, KAUFFMANN_DNA_REPAIR_GENES, KEGG_HOMOLOGOUS_RECOMBINATION, GOBP_MITOTIC_INTRA_S_DNA_DAMAGE_CHECKPOINT_SIGNALING, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE

GO Biological Process (9): resolution of meiotic recombination intermediates (GO:0000712), double-strand break repair (GO:0006302), replication fork processing (GO:0031297), mitotic intra-S DNA damage checkpoint signaling (GO:0031573), resolution of mitotic recombination intermediates (GO:0071140), response to intra-S DNA damage checkpoint signaling (GO:0072429), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974)

GO Molecular Function (7): DNA binding (GO:0003677), nuclease activity (GO:0004518), metal ion binding (GO:0046872), endonuclease activity (GO:0004519), protein binding (GO:0005515), crossover junction DNA endonuclease activity (GO:0008821), hydrolase activity (GO:0016787)

GO Cellular Component (9): nuclear chromosome (GO:0000228), heterochromatin (GO:0000792), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear replication fork (GO:0043596), Holliday junction resolvase complex (GO:0048476), endodeoxyribonuclease complex (GO:1905347), chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Resolution of D-Loop Structures	1
DNA Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	3
DNA metabolic process	2
nucleus	2
chromosome	2
cellular anatomical structure	2
reciprocal meiotic recombination	1
meiosis I cell cycle process	1
DNA repair	1
DNA-templated DNA replication maintenance of fidelity	1
mitotic S phase	1
mitotic DNA damage checkpoint signaling	1
mitotic recombination	1
resolution of DNA recombination intermediates	1
response to DNA damage checkpoint signaling	1
DNA damage response	1
cellular response to stress	1
nucleic acid binding	1
catalytic activity, acting on a nucleic acid	1
cation binding	1
nuclease activity	1
binding	1
DNA endonuclease activity, producing 3’-phosphomonoesters	1
catalytic activity	1
chromatin	1
intracellular membraneless organelle	1
nuclear chromosome	1
replication fork	1
CMG complex	1
endodeoxyribonuclease complex	1
endonuclease complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EME1	MUS81	Q96NY9	999
EME1	SLX4	Q8IY92	998
EME1	SLX1A	Q9BQ83	993
EME1	ERCC4	Q92889	890
EME1	ERCC1	P07992	870
EME1	GEN1	Q17RS7	863
EME1	EME2	A4GXA9	853
EME1	SLX4IP	Q5VYV7	822
EME1	EXO1	Q9UQ84	729
EME1	RMI1	Q9H9A7	721
EME1	TERF2IP	Q9NYB0	697
EME1	TOP3A	Q13472	690
EME1	TERF2	Q15554	688
EME1	FANCD2	Q9BXW9	688
EME1	RAD52	P43351	686

IntAct

66 interactions, top by confidence:

A	B	Type	Score
EME1	MUS81	psi-mi:“MI:0915”(physical association)	0.940
EME1	MUS81	psi-mi:“MI:0407”(direct interaction)	0.940
SLX4	ERCC1	psi-mi:“MI:0914”(association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
MUS81	ERCC4	psi-mi:“MI:0914”(association)	0.640
EME1	SLX4	psi-mi:“MI:0914”(association)	0.620
SLX4	EME1	psi-mi:“MI:0915”(physical association)	0.620
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
FAM9B	GEMIN2	psi-mi:“MI:0914”(association)	0.530
CCL22	PLXNA2	psi-mi:“MI:0914”(association)	0.530
EME1		psi-mi:“MI:0572”(dna cleavage)	0.440
EME1	ERCC4	psi-mi:“MI:0915”(physical association)	0.400
EME1	FANCM	psi-mi:“MI:0915”(physical association)	0.400
EME1	RAD54L	psi-mi:“MI:0915”(physical association)	0.400
EME1	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
EME1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
EME1		psi-mi:“MI:0915”(physical association)	0.400
DCAF1	ERCC1	psi-mi:“MI:0915”(physical association)	0.400
EME1	ECE1	psi-mi:“MI:0915”(physical association)	0.370
Shoc2	GABPB1	psi-mi:“MI:0914”(association)	0.350
PARD6B	PARD3	psi-mi:“MI:0914”(association)	0.350
Sgo2a	GPA33	psi-mi:“MI:0914”(association)	0.350
Nek2	WDR46	psi-mi:“MI:0914”(association)	0.350
Cul1	GPS1	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350

BioGRID (94): EME1 (Reconstituted Complex), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-Western), EME1 (Affinity Capture-MS), EME1 (Proximity Label-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-Western), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS), EME1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8ENT6, A2BGP7, A2CJ06, B1H1W9, F6RRD7, O00124, O55036, P54274, Q1LV50, Q1LWH4, Q1T7B8, Q28HU3, Q3KNJ2, Q3U1D0, Q3US16, Q4KLN8, Q4V832, Q5I0E6, Q5I2W8, Q5NVA9, Q5RA37, Q5RET9, Q5XI46, Q5ZIN2, Q6AYI4, Q6DRL4, Q6IQ49, Q6IRN0, Q6NV18, Q6P1H6, Q7Z2Z1, Q7Z4M0, Q8BJW7, Q8BKT3, Q8BMG1, Q8BMI4, Q8BQ33, Q8IXW5, Q8K1J5, Q8VC34

Diamond homologs: A4GXA9, Q0IHN5, Q56A04, Q5NVA9, Q8BJW7, Q96AY2, Q4INS6, Q4KM32, Q4WYE5, Q551H0, Q5W9E7, Q640B4, Q7SD49, Q7SXA9, Q8GT06, Q91ZJ0, Q96NY9, Q5B8L2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PLK1	“up-regulates activity”	EME1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 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
Fanconi Anemia Pathway	7	32.5×	9e-07
Deposition of new CENPA-containing nucleosomes at the centromere	5	13.2×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
resolution of meiotic recombination intermediates	5	64.1×	8e-06
double-strand break repair via homologous recombination	6	12.8×	1e-03
protein-containing complex assembly	6	9.4×	3e-03
DNA repair	9	7.9×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1596 predictions. Top by Δscore:

Variant	Effect	Δscore
17:50378581:G:A	acceptor_gain	1.0000
17:50378675:A:T	donor_gain	1.0000
17:50378773:GGGA:G	acceptor_gain	1.0000
17:50378851:G:T	donor_gain	1.0000
17:50378852:A:T	donor_gain	1.0000
17:50379450:A:AG	acceptor_gain	1.0000
17:50379451:G:GA	acceptor_loss	1.0000
17:50379451:G:GG	acceptor_gain	1.0000
17:50379565:CAAGT:C	donor_loss	1.0000
17:50379566:AAGT:A	donor_loss	1.0000
17:50379567:AGTG:A	donor_loss	1.0000
17:50379568:G:GG	donor_gain	1.0000
17:50379569:T:A	donor_loss	1.0000
17:50379570:GAGT:G	donor_loss	1.0000
17:50379571:AGTAA:A	donor_loss	1.0000
17:50375180:TTTA:T	acceptor_loss	0.9900
17:50375181:TTAG:T	acceptor_loss	0.9900
17:50375182:TA:T	acceptor_loss	0.9900
17:50375183:A:AG	acceptor_gain	0.9900
17:50375183:A:T	acceptor_loss	0.9900
17:50375183:AG:A	acceptor_gain	0.9900
17:50375183:AGG:A	acceptor_gain	0.9900
17:50375184:G:GG	acceptor_gain	0.9900
17:50375184:GG:G	acceptor_gain	0.9900
17:50375184:GGG:G	acceptor_gain	0.9900
17:50375184:GGGA:G	acceptor_gain	0.9900
17:50375897:A:T	donor_gain	0.9900
17:50375925:G:GT	donor_gain	0.9900
17:50375947:G:GT	donor_gain	0.9900
17:50375948:A:T	donor_gain	0.9900

AlphaMissense

3729 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:50380409:T:A	W482R	0.995
17:50380409:T:C	W482R	0.995
17:50380411:G:C	W482C	0.991
17:50380411:G:T	W482C	0.991
17:50380464:T:A	V500D	0.990
17:50380475:T:G	Y504D	0.989
17:50380454:G:C	A497P	0.988
17:50380460:G:C	A499P	0.987
17:50380881:G:C	R552P	0.987
17:50376167:T:A	W293R	0.986
17:50376167:T:C	W293R	0.986
17:50379551:G:C	A444P	0.986
17:50380410:G:C	W482S	0.984
17:50380312:G:C	K449N	0.983
17:50380312:G:T	K449N	0.983
17:50380863:G:A	G546E	0.983
17:50380340:T:C	F459L	0.982
17:50380342:C:A	F459L	0.982
17:50380342:C:G	F459L	0.982
17:50380455:C:A	A497D	0.982
17:50380854:G:C	R543P	0.981
17:50379552:C:A	A444D	0.979
17:50380806:T:A	L527H	0.978
17:50376158:A:C	S290R	0.976
17:50376160:T:A	S290R	0.976
17:50376160:T:G	S290R	0.976
17:50380407:T:A	V481D	0.976
17:50380442:A:C	S493R	0.976
17:50380444:C:A	S493R	0.976
17:50380444:C:G	S493R	0.976

dbSNP variants (sampled 300 via entrez): RS1000181009 (17:50381074 AT>A), RS1000212586 (17:50374678 C>A,G,T), RS1000622582 (17:50374853 AAAG>A), RS1000657417 (17:50381304 G>C), RS1001835083 (17:50374427 C>T), RS1002130400 (17:50373177 G>A,T), RS1002619509 (17:50371789 A>G), RS1002630459 (17:50379042 C>A), RS1003002188 (17:50378316 G>A), RS1003569545 (17:50377863 C>G), RS1003747953 (17:50376512 G>A), RS1003889449 (17:50374296 C>T), RS1004261224 (17:50374083 G>C), RS1004435288 (17:50381576 A>G), RS1004580935 (17:50381958 A>G)

Disease associations

OMIM: gene MIM:610885 | 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Benzo(a)pyrene	increases methylation, increases expression	2
Nickel	increases expression	2
Tobacco Smoke Pollution	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
polyhexamethyleneguanidine	affects expression	1
glycidamide	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Troglitazone	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cannabidiol	decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SL96	HAP1 EME1 (-) 1	Cancer cell line	Male
CVCL_SL97	HAP1 EME1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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