MRM2

Summary

MRM2 (mitochondrial rRNA methyltransferase 2, HGNC:16352) is a protein-coding gene on chromosome 7p22.3, encoding rRNA methyltransferase 2, mitochondrial (Q9UI43). S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain…. It is a selective cancer dependency (DepMap: 29.6% of cell lines).

The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair.

Source: NCBI Gene 29960 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial DNA depletion syndrome 17 (Strong, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 21 total — 2 pathogenic
• Phenotypes (HPO): 18
• Cancer dependency (DepMap): dependent in 29.6% of screened cell lines
• MANE Select transcript: NM_013393

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16352
Approved symbol	MRM2
Name	mitochondrial rRNA methyltransferase 2
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	FJH1, RRMJ2
Ensembl gene	ENSG00000122687
Ensembl biotype	protein_coding
OMIM	606906
Entrez	29960

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000242257, ENST00000407040, ENST00000440306, ENST00000467199, ENST00000486040, ENST00000891029, ENST00000891030

RefSeq mRNA: 1 — MANE Select: NM_013393 NM_013393

CCDS: CCDS5328

Canonical transcript exons

ENST00000242257 — 3 exons

Exon	Start	End
ENSE00001405763	2242162	2242205
ENSE00001860591	2234195	2235564
ENSE00003682564	2239418	2239707

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 89.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5983 / max 38.7932, expressed in 1752 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82478	9.5983	1752

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.89	gold quality
gastrocnemius	UBERON:0001388	88.90	gold quality
muscle of leg	UBERON:0001383	88.76	gold quality
muscle organ	UBERON:0001630	88.68	gold quality
skeletal muscle organ	UBERON:0014892	88.68	gold quality
granulocyte	CL:0000094	88.62	gold quality
placenta	UBERON:0001987	88.09	gold quality
lymph node	UBERON:0000029	87.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.16	gold quality
apex of heart	UBERON:0002098	87.05	gold quality
islet of Langerhans	UBERON:0000006	86.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.65	gold quality
right adrenal gland	UBERON:0001233	86.55	gold quality
mucosa of transverse colon	UBERON:0004991	86.51	gold quality
leukocyte	CL:0000738	86.47	gold quality
skeletal muscle tissue	UBERON:0001134	86.42	gold quality
heart left ventricle	UBERON:0002084	86.40	gold quality
right adrenal gland cortex	UBERON:0035827	86.28	gold quality
monocyte	CL:0000576	86.24	gold quality
muscle tissue	UBERON:0002385	86.19	gold quality
left adrenal gland	UBERON:0001234	85.84	gold quality
stromal cell of endometrium	CL:0002255	85.69	gold quality
prefrontal cortex	UBERON:0000451	85.55	gold quality
vermiform appendix	UBERON:0001154	85.38	gold quality
heart	UBERON:0000948	85.28	gold quality
left adrenal gland cortex	UBERON:0035825	85.27	gold quality
spleen	UBERON:0002106	85.22	gold quality
adrenal gland	UBERON:0002369	85.14	gold quality
frontal cortex	UBERON:0001870	84.90	gold quality
smooth muscle tissue	UBERON:0001135	84.63	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting MRM2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-4275	97.96	68.42	1549
HSA-MIR-219B-3P	97.31	66.96	672
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-3907	96.76	65.04	662

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 29.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• FTSJ2 is a nucleolar RNA methyltransferase involved in eukaryotic RNA processing and modification. (PMID:11827451)
• FTSJ2 possesses suppressive effects on the invasion and migration of cancer cells. (PMID:24595062)
• MRM2 and MRM3 are human mitochondrial methyltransferases involved in the modification of 16S rRNA and are important factors for the biogenesis and function of the large subunit of the mitochondrial ribosome. (PMID:25009282)
• Data show that 2’-O-methyltransferases MRM1, MRM2, and RNMTL1 are responsible for modification of large subunit rRNA at residues G1145, U1369, and G1370, respectively. (PMID:25074936)
• miR-542-3p functions as a suppressor gene by targeting and upregulating FTSJ2, thus inhibiting the malignancy of non-small cell lung cancer cells (PMID:28866101)
• Targeted exome sequencing of genes encoding the mitochondrial proteome identified a damaging mutation, c.567 G > A, affecting a highly conserved amino acid residue (p.Gly189Arg) of the MRM2 protein. Our findings establish that defective MRM2 causes a MELAS-like phenotype, and suggests the genetic screening of the MRM2 gene in patients with a m.3243 A > G negative MELAS-like presentation. (PMID:28973171)
• MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. (PMID:36002240)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrm2	ENSDARG00000075368
mus_musculus	Mrm2	ENSMUSG00000029557
rattus_norvegicus	Mrm2	ENSRNOG00000043267
drosophila_melanogaster	Mrm2	FBGN0038737
caenorhabditis_elegans		WBGENE00009735

Paralogs (2): FTSJ1 (ENSG00000068438), FTSJ3 (ENSG00000108592)

Protein

Protein identifiers

rRNA methyltransferase 2, mitochondrial — Q9UI43 (reviewed: Q9UI43)

Alternative names: 16S rRNA (uridine(1369)-2’-O)-methyltransferase, 16S rRNA [Um1369] 2’-O-methyltransferase, Protein ftsJ homolog 2

All UniProt accessions (3): A0A3B3ITW8, Q9UI43, V9HWJ9

UniProt curated annotations — full annotation on UniProt →

Function. S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. This activity may require prior 2’-O-methylguanosine modification at position 1370 (Gm1370) by MRM3. Essential for late-stage assembly of mtLSU required for efficient translation of mitochondrial DNA encoded proteins; methyltransferase activity is not required for this function. Essential for mitochondrial respiratory function.

Subcellular location. Mitochondrion.

Tissue specificity. Widely expressed, with highest expression in muscle, placenta, and heart.

Disease relevance. Mitochondrial DNA depletion syndrome 17 (MTDPS17) [MIM:618567] An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family.

RefSeq proteins (1): NP_037525* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002877	RNA_MeTrfase_FtsJ_dom	Domain
IPR015507	rRNA-MeTfrase_E	Family
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR050082	RNA_methyltr_RlmE	Family

Pfam: PF01728

Enzyme classification (BRENDA):

• EC 2.1.1.166 — 23S rRNA (uridine2552-2’-O)-methyltransferase (BRENDA: 3 organisms, 9 substrates, 0 inhibitors, 3 Km, 3 kcat entries)
• EC 2.1.1.B123 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-ADENOSYL-L-METHIONINE	0.0037	1

Catalyzed reactions (Rhea), 1 shown:

• uridine(1369) in 16S rRNA + S-adenosyl-L-methionine = 2’-O-methyluridine(1369) in 16S rRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:47764)

UniProt features (26 total): helix 7, strand 7, binding site 4, mutagenesis site 2, transit peptide 1, chain 1, sequence conflict 1, turn 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2NYU	X-RAY DIFFRACTION	1.76
7O9M	ELECTRON MICROSCOPY	2.6
7O9K	ELECTRON MICROSCOPY	3.1
7ODS	ELECTRON MICROSCOPY	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UI43-F1	88.33	0.78

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 (1): 194 (proton acceptor)

Ligand- & substrate-binding residues (4): 83–86; 112; 129–130; 154

Mutagenesis-validated functional residues (2):

Position	Phenotype
59	loss of methyltransferase activity. does not modify mtlsu rrna (um1369) but still functions as an mtlsu assembly factor.
154	loss of methyltransferase activity. does not modify mtlsu rrna (um1369) but still functions as an mtlsu assembly factor.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6793080	rRNA modification in the mitochondrion
R-HSA-72312	rRNA processing
R-HSA-8868766	rRNA processing in the mitochondrion
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 160 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_RIBOSOME_ASSEMBLY, GOBP_RNA_METHYLATION, chr7p22, AMIT_EGF_RESPONSE_480_MCF10A, ONKEN_UVEAL_MELANOMA_UP, GOBP_RNA_MODIFICATION, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, GOBP_RRNA_MODIFICATION, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON

GO Biological Process (6): rRNA 2’-O-methylation (GO:0000451), RNA methylation (GO:0001510), rRNA processing (GO:0006364), rRNA methylation (GO:0031167), mitochondrial large ribosomal subunit assembly (GO:1902775), methylation (GO:0032259)

GO Molecular Function (3): rRNA (uridine-2’-O-ribose)-methyltransferase activity (GO:0008650), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (3): nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
rRNA processing in the mitochondrion	1
Metabolism of RNA	1
rRNA processing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
rRNA methylation	1
RNA modification	1
macromolecule methylation	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
rRNA modification	1
RNA methylation	1
ribosomal large subunit assembly	1
mitochondrial ribosome assembly	1
metabolic process	1
rRNA (uridine) methyltransferase activity	1
RNA 2’-O-methyltransferase activity	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2506 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRM2	MRM1	Q6IN84	916
MRM2	MRM3	Q9HC36	830
MRM2	MTG2	Q9H4K7	785
MRM2	MTG1	Q9BT17	764
MRM2	NSUN4	Q96CB9	733
MRM2	MALSU1	Q96EH3	711
MRM2	GTPBP10	A4D1E9	710
MRM2	MTERF4	Q7Z6M4	708
MRM2	RPUSD4	Q96CM3	705
MRM2	TRMT61B	Q9BVS5	668
MRM2	TRMT2B	Q96GJ1	590
MRM2	ERAL1	O75616	589
MRM2	TFB1M	Q8WVM0	587
MRM2	MAD1L1	Q9Y6D9	578
MRM2	GTPBP6	O43824	576

IntAct

43 interactions, top by confidence:

A	B	Type	Score
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
HSPD1	NUDT19	psi-mi:“MI:0914”(association)	0.710
MRM2	HSPD1	psi-mi:“MI:0914”(association)	0.640
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
CELA2B	AURKA	psi-mi:“MI:0914”(association)	0.530
KBTBD7	PLD2	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
PSME1	POLR3A	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
NIT1	NUDT19	psi-mi:“MI:0914”(association)	0.350
MRPL12		psi-mi:“MI:0914”(association)	0.350
IMPDH1	LCMT2	psi-mi:“MI:0914”(association)	0.350
TSPAN5	KLHL2	psi-mi:“MI:0914”(association)	0.350
CAMK2D	SETD1A	psi-mi:“MI:0914”(association)	0.350
HTRA4	PSMD12	psi-mi:“MI:0914”(association)	0.350
CUL3	RPA1	psi-mi:“MI:0914”(association)	0.350
KBTBD7	GTPBP10	psi-mi:“MI:0914”(association)	0.350
MRM2	ZZEF1	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
UQCRFS1	VWA8	psi-mi:“MI:0914”(association)	0.350
MALSU1	VWA8	psi-mi:“MI:0914”(association)	0.350
TMEM74	KLRG2	psi-mi:“MI:0914”(association)	0.350

BioGRID (93): FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), FTSJ2 (Proximity Label-MS), FTSJ2 (Negative Genetic)

ESM2 similar proteins: A0JNU3, A1A4L8, A2APY7, A2AV36, A5GFY8, A5GFZ6, A6H791, A7MBC0, A7YW45, B2GV71, B5DPF1, D4A1R8, O14744, O88202, O95396, O95571, P19623, P31754, P43353, Q28HC6, Q3KRD0, Q3T094, Q4QR99, Q4R5M3, Q5BJY6, Q5R698, Q5ZKI2, Q64674, Q66JK4, Q6AY46, Q6NS21, Q6NUA1, Q7SYK1, Q80XC2, Q86U10, Q8C166, Q8CIG8, Q8GWT4, Q8JZV7, Q96FX7

Diamond homologs: A0B8A1, A0LC14, A1B962, A1TXM4, A1URN3, A2SF90, A3M851, A3PJK8, A4YSS3, A5EHP2, A5G029, A5UKI5, A5VFI9, A5VUZ8, A6U6F0, A6X5L4, A7HSA5, A7IDJ5, A8EXN1, A8GMD3, A8GQZ0, A8GV60, A8II77, A9BML0, A9IMA1, A9MBW8, A9WYY2, B0BWD8, B0T8J6, B0VEE9, B0VSM4, B2HXD3, B2SAY0, B3PQL4, B3QFD2, B5ZR94, B6JHM9, B7GY18, B7I636, B8GNX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	6
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3028912	NM_013393.3(MRM2):c.8+1G>T	Pathogenic
689394	NM_013393.3(MRM2):c.565G>A (p.Gly189Arg)	Pathogenic

SpliceAI

697 predictions. Top by Δscore:

Variant	Effect	Δscore
7:2235565:C:CA	acceptor_loss	1.0000
7:2235565:C:CC	acceptor_gain	1.0000
7:2239531:T:TA	donor_gain	1.0000
7:2235563:ATCT:A	acceptor_gain	0.9900
7:2235567:A:C	acceptor_gain	0.9900
7:2239675:CG:C	acceptor_gain	0.9900
7:2242124:C:CA	donor_gain	0.9900
7:2235561:GGAT:G	acceptor_gain	0.9800
7:2235562:GAT:G	acceptor_gain	0.9800
7:2235567:A:AC	acceptor_gain	0.9800
7:2239432:TTG:T	donor_gain	0.9800
7:2239517:G:A	donor_gain	0.9800
7:2239551:TCGAC:T	donor_gain	0.9800
7:2241987:T:TA	donor_gain	0.9800
7:2242004:G:GT	donor_gain	0.9800
7:2242023:G:A	donor_gain	0.9800
7:2242156:GCTCA:G	donor_loss	0.9800
7:2242157:CTCAC:C	donor_loss	0.9800
7:2242158:TCAC:T	donor_loss	0.9800
7:2242159:CA:C	donor_loss	0.9800
7:2242160:AC:A	donor_gain	0.9800
7:2242160:ACC:A	donor_gain	0.9800
7:2242161:C:CG	donor_loss	0.9800
7:2242161:CC:C	donor_gain	0.9800
7:2242161:CCC:C	donor_gain	0.9800
7:2242161:CCCCG:C	donor_gain	0.9800
7:2235560:GGGAT:G	acceptor_gain	0.9700
7:2235562:GATC:G	acceptor_gain	0.9700
7:2235563:AT:A	acceptor_gain	0.9700
7:2235564:TCTA:T	acceptor_gain	0.9700

AlphaMissense

1592 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:2235282:T:A	K194I	0.998
7:2235227:G:C	F212L	0.997
7:2235227:G:T	F212L	0.997
7:2235229:A:G	F212L	0.997
7:2235402:T:A	D154V	0.995
7:2235404:G:C	S153R	0.995
7:2235404:G:T	S153R	0.995
7:2235406:T:G	S153R	0.995
7:2235281:T:A	K194N	0.994
7:2235281:T:G	K194N	0.994
7:2239455:A:C	S87R	0.992
7:2239455:A:T	S87R	0.992
7:2239457:T:G	S87R	0.992
7:2239460:A:G	W86R	0.991
7:2239460:A:T	W86R	0.991
7:2239542:G:C	F58L	0.991
7:2239542:G:T	F58L	0.991
7:2239544:A:G	F58L	0.991
7:2235401:G:C	D154E	0.990
7:2235401:G:T	D154E	0.990
7:2239539:C:A	K59N	0.990
7:2239539:C:G	K59N	0.990
7:2235228:A:G	F212S	0.989
7:2235528:T:A	D112V	0.989
7:2235283:T:C	K194E	0.988
7:2235402:T:G	D154A	0.988
7:2235535:C:A	G110W	0.988
7:2235528:T:G	D112A	0.986
7:2235194:G:C	S223R	0.985
7:2235194:G:T	S223R	0.985

dbSNP variants (sampled 300 via entrez): RS1000310764 (7:2243017 T>A), RS1000947263 (7:2236774 A>C,G), RS1001120038 (7:2241076 A>C), RS1001237146 (7:2241286 A>G), RS1001864714 (7:2241431 C>A,G), RS1002001119 (7:2236677 A>G), RS1002288772 (7:2241686 C>T), RS1002446257 (7:2236855 G>T), RS1002621125 (7:2242389 C>T), RS1002877638 (7:2239902 G>A), RS1003003686 (7:2235587 G>A), RS1003203649 (7:2237915 A>C,G,T), RS1003573821 (7:2242255 A>C,G,T), RS1004005962 (7:2236344 T>C), RS1004079366 (7:2236517 T>C)

Disease associations

OMIM: gene MIM:606906 | disease phenotypes: MIM:618567

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial DNA depletion syndrome 17	Strong	Autosomal recessive

Mondo (1): mitochondrial DNA depletion syndrome 17 (MONDO:0032815)

Orphanet (0):

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001285	Spastic tetraparesis
HP:0001399	Hepatic failure
HP:0001941	Acidosis
HP:0001987	Hyperammonemia
HP:0002059	Cerebral atrophy
HP:0002072	Chorea
HP:0002133	Status epilepticus
HP:0003572	Low plasma citrulline
HP:0003819	Death in childhood
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0011923	Decreased activity of mitochondrial complex I
HP:0012847	Epilepsia partialis continua
HP:0100248	Hemiballismus
HP:0100660	Dyskinesia

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001565_9	Schizophrenia	2.000000e-09
GCST002149_3	Schizophrenia	6.000000e-13
GCST004521_264	Autism spectrum disorder or schizophrenia	7.000000e-16
GCST004946_88	Schizophrenia	4.000000e-17
GCST005759_5	Dimensional psychopathology (Social)	2.000000e-07
GCST90000514_9	Gastroesophageal reflux disease	2.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009100	social domain measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Leflunomide	decreases expression	2
Valproic Acid	affects expression, increases methylation	2
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
ferrous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
Temozolomide	increases expression	1
Adenine	decreases expression	1
Atrazine	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Colchicine	decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Etoposide	decreases expression	1
Formaldehyde	decreases expression	1
Hydroxyurea	decreases expression	1
Lead	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Niclosamide	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases expression	1

Clinical trials (associated diseases)

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