MGME1

Summary

MGME1 (mitochondrial genome maintenance exonuclease 1, HGNC:16205) is a protein-coding gene on chromosome 20p11.23, encoding Mitochondrial genome maintenance exonuclease 1 (Q9BQP7). Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance.

The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 92667 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 121 total — 5 pathogenic
• Phenotypes (HPO): 43
• MANE Select transcript: NM_052865

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16205
Approved symbol	MGME1
Name	mitochondrial genome maintenance exonuclease 1
Location	20p11.23
Locus type	gene with protein product
Status	Approved
Aliases	bA504H3.4, DDK1
Ensembl gene	ENSG00000125871
Ensembl biotype	protein_coding
OMIM	615076
Entrez	92667

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 23 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000377704, ENST00000377709, ENST00000377710, ENST00000463219, ENST00000467391, ENST00000895976, ENST00000895977, ENST00000895978, ENST00000895979, ENST00000895980, ENST00000895981, ENST00000895982, ENST00000895983, ENST00000895984, ENST00000895985, ENST00000895986, ENST00000925978, ENST00000925979, ENST00000925980, ENST00000948798, ENST00000948799, ENST00000948800, ENST00000948801, ENST00000948802, ENST00000948803

RefSeq mRNA: 4 — MANE Select: NM_052865 NM_001310338, NM_001310339, NM_001363738, NM_052865

CCDS: CCDS13131, CCDS82600, CCDS86934

Canonical transcript exons

ENST00000377710 — 5 exons

Exon	Start	End
ENSE00000859271	17975684	17975903
ENSE00000990630	17969801	17970370
ENSE00001947755	17969018	17969141
ENSE00003490148	17988166	17988298
ENSE00003619912	17989939	17991122

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 97.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1434 / max 296.0451, expressed in 1787 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183671	5.7396	1554
183668	4.5942	1326
183670	3.7844	1251
183673	2.2563	816
183669	0.7689	483

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.75	gold quality
left ventricle myocardium	UBERON:0006566	94.50	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.00	gold quality
ventricular zone	UBERON:0003053	93.28	gold quality
penis	UBERON:0000989	93.10	gold quality
amniotic fluid	UBERON:0000173	93.07	gold quality
upper leg skin	UBERON:0004262	92.93	gold quality
gingival epithelium	UBERON:0001949	92.61	gold quality
trabecular bone tissue	UBERON:0002483	92.60	gold quality
kidney epithelium	UBERON:0004819	92.03	gold quality
deltoid	UBERON:0001476	91.90	gold quality
quadriceps femoris	UBERON:0001377	91.89	gold quality
thymus	UBERON:0002370	91.86	gold quality
vastus lateralis	UBERON:0001379	91.65	gold quality
skin of hip	UBERON:0001554	91.16	gold quality
ileal mucosa	UBERON:0000331	91.06	gold quality
esophagus squamous epithelium	UBERON:0006920	90.92	gold quality
gingiva	UBERON:0001828	90.47	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.37	gold quality
mammalian vulva	UBERON:0000997	90.06	gold quality
biceps brachii	UBERON:0001507	90.00	gold quality
skeletal muscle tissue	UBERON:0001134	89.73	gold quality
ganglionic eminence	UBERON:0004023	89.67	gold quality
tibialis anterior	UBERON:0001385	89.64	silver quality
jejunal mucosa	UBERON:0000399	89.61	gold quality
secondary oocyte	CL:0000655	89.48	gold quality
zone of skin	UBERON:0000014	89.41	gold quality
skin of abdomen	UBERON:0001416	89.37	gold quality
muscle tissue	UBERON:0002385	89.30	gold quality
epithelium of nasopharynx	UBERON:0001951	89.22	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting MGME1, 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-196A-1-3P	99.99	72.15	2772
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-1246	98.54	66.21	959
HSA-MIR-581	98.39	67.42	835
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-6771-3P	98.20	66.53	971
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-4675	97.69	64.82	774

Literature-anchored findings (GeneRIF, showing 8)

• Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. (PMID:23313956)
• Overexperssion of Ddk1 decreases the levels of 7S DNA, suggesting an important role of the protein in 7S DNA regulation. (PMID:23358826)
• MGME1-mediated mtDNA processing is essential for faithful mitochondrial genome replication and might be required for intramolecular recombination of mtDNA. (PMID:24986917)
• MGME1 processes flaps into ligatable nicks in concert with DNA polymerase gamma during mtDNA replication. (PMID:27220468)
• A novel frameshift deletion in MGME1 causes early onset cerebellar ataxia. (PMID:28711739)
• MGME1 is part of a termination complex acting at the end of the D-loop region where it modulates mtDNA replication and H-strand transcription termination (PMID:29572490)
• Besides the conserved two-cation-assisted catalytic mechanism, structural analysis of HsMGME1 and comparison with homologous proteins also clarified substrate binding and cleavage directionalities of the DNA double-strand break repair complexes RecBCD and AddAB. (PMID:30247721)
• MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma. (PMID:37166417)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mgme1	ENSDARG00000016656
mus_musculus	Mgme1	ENSMUSG00000027424
rattus_norvegicus	Mgme1	ENSRNOG00000028196
caenorhabditis_elegans		WBGENE00077500

Protein

Protein identifiers

Mitochondrial genome maintenance exonuclease 1 — Q9BQP7 (reviewed: Q9BQP7)

All UniProt accessions (3): Q9BQP7, Q5QPE7, Q5QPE8

UniProt curated annotations — full annotation on UniProt →

Function. Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5’-3’ exonuclease activity but is also capable of endonuclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.

Subcellular location. Mitochondrion.

Disease relevance. Mitochondrial DNA depletion syndrome 11 (MTDPS11) [MIM:615084] An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. The disease may be caused by variants affecting the gene represented in this entry.

Miscellaneous. This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

Similarity. Belongs to the MGME1 family.

RefSeq proteins (4): NP_001297267, NP_001297268, NP_001350667, NP_443097* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011335	Restrct_endonuc-II-like	Homologous_superfamily
IPR011604	PDDEXK-like_dom_sf	Homologous_superfamily
IPR038726	PDDEXK_AddAB-type	Domain

Pfam: PF12705

UniProt features (28 total): helix 10, strand 6, active site 3, mutagenesis site 3, sequence variant 2, chain 1, sequence conflict 1, turn 1, modified residue 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
5ZYU	X-RAY DIFFRACTION	1.75
5ZYW	X-RAY DIFFRACTION	2.2
8XA9	X-RAY DIFFRACTION	2.32
5ZYT	X-RAY DIFFRACTION	2.7
5ZYV	X-RAY DIFFRACTION	2.72

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQP7-F1	76.13	0.55

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 238; 251; 253

Post-translational modifications (1): 343

Mutagenesis-validated functional residues (3):

Position	Phenotype
251	abolishes catalytic activity.
253	abolishes catalytic activity.
253	abolishes exonuclease activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9913635	Strand-asynchronous mitochondrial DNA replication
R-HSA-69306	DNA Replication

MSigDB gene sets: 225 (showing top): REACTOME_DNA_REPLICATION, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_MITOCHONDRIAL_DNA_METABOLIC_PROCESS, USF_C, YY1_Q6, MYCMAX_01, KMCATNNWGGA_UNKNOWN, USF_01, GOBP_DNA_DAMAGE_RESPONSE, CCCNNNNNNAAGWT_UNKNOWN, HIF1_Q3, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_EXONUCLEASE_ACTIVITY, GOBP_DNA_REPLICATION

GO Biological Process (5): mitochondrial DNA replication (GO:0006264), mitochondrial DNA repair (GO:0043504), obsolete mitochondrial genome maintenance (GO:0000002), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (7): single-stranded DNA exodeoxyribonuclease activity (GO:0008297), 5’-flap endonuclease activity (GO:0017108), single-stranded DNA 5’-3’ DNA exonuclease activity (GO:0045145), nuclease activity (GO:0004518), exonuclease activity (GO:0004527), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
DNA Replication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
mitochondrial DNA metabolic process	2
DNA-templated DNA replication	1
DNA repair	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
DNA exonuclease activity, producing 5’-phosphomonoesters	1
DNA endonuclease activity, producing 5’-phosphomonoesters	1
flap endonuclease activity	1
single-stranded DNA exodeoxyribonuclease activity	1
5’-3’ DNA exonuclease activity	1
catalytic activity, acting on a nucleic acid	1
nuclease activity	1
hydrolase activity, acting on ester bonds	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

860 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MGME1	TWNK	Q96RR1	856
MGME1	DNA2	P51530	796
MGME1	POLG2	Q9UHN1	791
MGME1	POLRMT	O00411	711
MGME1	DGUOK	P78532	694
MGME1	EXOG	Q9Y2C4	651
MGME1	RNASEH1	O60930	648
MGME1	POLG	P54098	648
MGME1	FBXL4	Q9UKA2	635
MGME1	LIG3	P49916	626
MGME1	DKK1	O94907	603
MGME1	SSBP1	Q04837	593
MGME1	RRM2B	Q7LG56	586
MGME1	MPV17	P39210	585
MGME1	TFAM	Q00059	570

IntAct

123 interactions, top by confidence:

A	B	Type	Score
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
MGME1	POLG	psi-mi:“MI:0914”(association)	0.640
RRM2	HSPA8	psi-mi:“MI:0914”(association)	0.640
MGME1	DCDC2	psi-mi:“MI:0915”(physical association)	0.560
MGME1	PICK1	psi-mi:“MI:0915”(physical association)	0.560
SMC1A	PDS5B	psi-mi:“MI:0914”(association)	0.530
MRPL46	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
CBLC	GAK	psi-mi:“MI:0914”(association)	0.530
MGME1	WDHD1	psi-mi:“MI:0914”(association)	0.530
GCSH	LIAS	psi-mi:“MI:0914”(association)	0.530
MRPL46	MRPL55	psi-mi:“MI:0914”(association)	0.530
HMGCL	DBT	psi-mi:“MI:0914”(association)	0.530
CBLC	MGME1	psi-mi:“MI:0914”(association)	0.530
ACAA2	MGME1	psi-mi:“MI:0914”(association)	0.530
ELAVL2	CASC3	psi-mi:“MI:0914”(association)	0.530
PAEP	PROS1	psi-mi:“MI:0914”(association)	0.530
P/V	HSPA4L	psi-mi:“MI:0914”(association)	0.530
	MGME1	psi-mi:“MI:0915”(physical association)	0.500
SOX13	SOX6	psi-mi:“MI:0914”(association)	0.480
GIPC1	APPL2	psi-mi:“MI:0914”(association)	0.480
LAX1	MGME1	psi-mi:“MI:0915”(physical association)	0.400
MAGEA11	MGME1	psi-mi:“MI:0915”(physical association)	0.370
ECSIT	NDUFS2	psi-mi:“MI:0914”(association)	0.350
FOXA1	PLOD2	psi-mi:“MI:0914”(association)	0.350

BioGRID (138): MGME1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), MGME1 (Two-hybrid), MGME1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), TRIM45 (Affinity Capture-MS), MIPEP (Affinity Capture-MS), LUZP1 (Affinity Capture-MS), POLG (Affinity Capture-MS), ECSIT (Affinity Capture-MS), FKBP4 (Affinity Capture-MS)

ESM2 similar proteins: A2AUU0, A3KMI0, B0BF33, B4F769, B5DF07, E1BB03, F1Q514, F6SDF8, O08901, O09053, O15091, O60566, Q2KI45, Q498E7, Q49AR2, Q4R366, Q4R8E0, Q5FWF4, Q5R5W9, Q5T890, Q5U5Z8, Q63185, Q6DJS0, Q6GQJ2, Q6ING4, Q6NXH8, Q6NZP1, Q6P5J6, Q7Z3E5, Q7ZVP1, Q86VD1, Q8BGC1, Q8BMD7, Q8C5W4, Q8JZY4, Q8N6Q8, Q8TE76, Q9BQP7, Q9CXC3, Q9CXP9

Diamond homologs: F6SDF8, Q9BQP7, Q9CXC3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 143 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
Mitochondrial ribosome-associated quality control	8	9.0×	8e-04
Mitochondrial translation	7	8.8×	3e-03
Mitochondrial translation initiation	7	8.2×	3e-03
Mitochondrial translation elongation	7	8.2×	3e-03
Mitochondrial translation termination	7	7.0×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	8	10.6×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	51
Likely benign	39
Benign	12

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1940364	NM_052865.4(MGME1):c.658C>T (p.Arg220Ter)	Pathogenic
2056466	NM_052865.4(MGME1):c.563C>G (p.Ser188Ter)	Pathogenic
3248265	NC_000020.10:g.(?17603729)(18541384_?)del	Pathogenic
40052	NM_052865.4(MGME1):c.698A>G (p.Tyr233Cys)	Pathogenic
816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	Pathogenic

SpliceAI

978 predictions. Top by Δscore:

Variant	Effect	Δscore
20:17969116:T:G	donor_gain	1.0000
20:17970371:G:GG	donor_gain	1.0000
20:17975904:G:GG	donor_gain	1.0000
20:17988294:TTCAG:T	donor_loss	1.0000
20:17988295:TCAG:T	donor_loss	1.0000
20:17988296:CAG:C	donor_loss	1.0000
20:17988297:AGGTC:A	donor_loss	1.0000
20:17988298:GG:G	donor_loss	1.0000
20:17988299:GTCA:G	donor_loss	1.0000
20:17988300:T:G	donor_loss	1.0000
20:17988304:GACAC:G	donor_gain	1.0000
20:17968369:CCTCA:C	donor_loss	0.9900
20:17968370:CTCA:C	donor_loss	0.9900
20:17968371:TCA:T	donor_loss	0.9900
20:17968373:A:AC	donor_gain	0.9900
20:17968374:C:CC	donor_gain	0.9900
20:17968374:CCTTG:C	donor_gain	0.9900
20:17975679:TTCA:T	acceptor_loss	0.9900
20:17975680:TCA:T	acceptor_loss	0.9900
20:17975681:CAG:C	acceptor_loss	0.9900
20:17975682:A:AG	acceptor_gain	0.9900
20:17975682:AG:A	acceptor_loss	0.9900
20:17975683:G:GA	acceptor_gain	0.9900
20:17975683:G:GT	acceptor_loss	0.9900
20:17975683:GAC:G	acceptor_gain	0.9900
20:17975683:GACGT:G	acceptor_gain	0.9900
20:17975815:GAT:G	donor_gain	0.9900
20:17975893:GC:G	donor_gain	0.9900
20:17975894:C:G	donor_gain	0.9900
20:17975899:TATCA:T	donor_gain	0.9900

AlphaMissense

2255 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:17988188:T:A	W252R	0.997
20:17988188:T:C	W252R	0.997
20:17990035:T:A	W321R	0.993
20:17990035:T:C	W321R	0.993
20:17988193:G:C	K253N	0.991
20:17988193:G:T	K253N	0.991
20:17989964:C:A	A297D	0.990
20:17975893:G:C	A241P	0.989
20:17975894:C:A	A241D	0.987
20:17988255:C:A	A274E	0.987
20:17975849:T:A	V226D	0.986
20:17989985:C:A	A304D	0.986
20:17989958:T:A	V295E	0.985
20:17970266:T:A	V136D	0.984
20:17975794:A:C	S208R	0.984
20:17975796:T:A	S208R	0.984
20:17975796:T:G	S208R	0.984
20:17988189:G:C	W252S	0.984
20:17988190:G:C	W252C	0.984
20:17988190:G:T	W252C	0.984
20:17988197:T:C	S255P	0.984
20:17990045:G:C	R324P	0.983
20:17970313:T:A	W152R	0.982
20:17970313:T:C	W152R	0.982
20:17975886:C:A	D238E	0.982
20:17975886:C:G	D238E	0.982
20:17970315:G:C	W152C	0.981
20:17970315:G:T	W152C	0.981
20:17975798:T:A	V209D	0.981
20:17988211:G:C	K259N	0.981

dbSNP variants (sampled 300 via entrez): RS1000119102 (20:17972445 T>A,C), RS1000390862 (20:17979162 C>T), RS1000425674 (20:17969607 C>A,G), RS1000510803 (20:17982050 A>G), RS1000729566 (20:17988057 A>G), RS1000786991 (20:17981849 T>C,G), RS1000895914 (20:17971935 C>A,G), RS1000982811 (20:17978102 A>G), RS1001011982 (20:17975626 T>C), RS1001030196 (20:17989692 C>T), RS1001174241 (20:17979146 G>A), RS1001397962 (20:17985290 G>A), RS1001457534 (20:17978952 G>A,T), RS1001470897 (20:17990811 A>G), RS1001632730 (20:17968632 C>A,G)

Disease associations

OMIM: gene MIM:615076 | disease phenotypes: MIM:615084, MIM:224100, MIM:616858

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial DNA depletion syndrome 11	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (3): mitochondrial DNA depletion syndrome 11 (MONDO:0014039), congenital dyserythropoietic anemia type 2 (MONDO:0009134), Cowden syndrome 7 (MONDO:0014802)

Orphanet (3): Progressive external ophthalmoplegia-myopathy-emaciation syndrome (Orphanet:352447), Cowden syndrome (Orphanet:201), Congenital dyserythropoietic anemia type II (Orphanet:98873)

HPO phenotypes

43 total (30 of 43 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000508	Ptosis
HP:0000590	Progressive external ophthalmoplegia
HP:0000651	Diplopia
HP:0000787	Nephrolithiasis
HP:0000815	Hypergonadotropic hypogonadism
HP:0001249	Intellectual disability
HP:0001265	Hyporeflexia
HP:0001272	Cerebellar atrophy
HP:0001611	Hypernasal speech
HP:0001618	Dysphonia
HP:0001644	Dilated cardiomyopathy
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0002018	Nausea
HP:0002028	Chronic diarrhea
HP:0002093	Respiratory insufficiency
HP:0002094	Dyspnea
HP:0002719	Recurrent infections
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002808	Kyphosis
HP:0002878	Respiratory failure
HP:0003198	Myopathy
HP:0003200	Ragged-red muscle fibers
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003306	Spinal rigidity
HP:0003388	Easy fatigability
HP:0003546	Exercise intolerance
HP:0003621	Juvenile onset

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

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
sodium arsenite	decreases expression	2
Benzo(a)pyrene	increases expression	2
Cisplatin	increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
nickel sulfate	decreases expression	1
nivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
Dasatinib	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Caffeine	decreases phosphorylation	1
Calcitriol	decreases expression, affects cotreatment	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Testosterone	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SY29	HAP1 MGME1 (-) 1	Cancer cell line	Male
CVCL_SY30	HAP1 MGME1 (-) 2	Cancer cell line	Male
CVCL_SY31	HAP1 MGME1 (-) 3	Cancer cell line	Male
CVCL_SY32	HAP1 MGME1 (-) 4	Cancer cell line	Male
CVCL_SY33	HAP1 MGME1 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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