MTERF2

Summary

MTERF2 (mitochondrial transcription termination factor 2, HGNC:30779) is a protein-coding gene on chromosome 12q23.3, encoding Transcription termination factor 2, mitochondrial (Q49AM1). Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species.

Enables DNA binding activity. Predicted to be involved in termination of mitochondrial transcription. Located in mitochondrion.

Source: NCBI Gene 80298 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_001033050

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30779
Approved symbol	MTERF2
Name	mitochondrial transcription termination factor 2
Location	12q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14062
Ensembl gene	ENSG00000120832
Ensembl biotype	protein_coding
OMIM	616929
Entrez	80298

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000240050, ENST00000392830, ENST00000547115, ENST00000548101, ENST00000550496, ENST00000550736, ENST00000552029, ENST00000713581, ENST00000853544, ENST00000853545, ENST00000853546, ENST00000853547, ENST00000924790, ENST00000924791, ENST00000924792

RefSeq mRNA: 2 — MANE Select: NM_001033050 NM_001033050, NM_025198

CCDS: CCDS9111

Canonical transcript exons

ENST00000240050 — 3 exons

Exon	Start	End
ENSE00002366194	106986969	106987146
ENSE00003847380	106977277	106978771
ENSE00004020366	106985115	106985225

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 94.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6361 / max 86.1217, expressed in 1605 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133083	4.7824	1487
133084	1.8536	940

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	94.62	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.04	gold quality
sperm	CL:0000019	92.10	gold quality
myocardium	UBERON:0002349	92.01	gold quality
cerebellar hemisphere	UBERON:0002245	91.84	gold quality
cerebellar cortex	UBERON:0002129	91.78	gold quality
body of pancreas	UBERON:0001150	91.76	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.47	gold quality
cerebellum	UBERON:0002037	91.32	gold quality
left lobe of thyroid gland	UBERON:0001120	90.74	gold quality
right lobe of thyroid gland	UBERON:0001119	90.57	gold quality
thyroid gland	UBERON:0002046	90.53	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.34	gold quality
lower esophagus	UBERON:0013473	90.31	gold quality
heart left ventricle	UBERON:0002084	90.21	gold quality
oviduct epithelium	UBERON:0004804	90.21	gold quality
cardiac ventricle	UBERON:0002082	90.12	gold quality
apex of heart	UBERON:0002098	89.93	gold quality
mucosa of stomach	UBERON:0001199	89.81	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.73	gold quality
cardiac atrium	UBERON:0002081	89.62	gold quality
epithelial cell of pancreas	CL:0000083	89.52	silver quality
right atrium auricular region	UBERON:0006631	89.49	gold quality
right adrenal gland cortex	UBERON:0035827	89.37	gold quality
heart	UBERON:0000948	89.28	gold quality
right adrenal gland	UBERON:0001233	89.20	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.11	gold quality
heart right ventricle	UBERON:0002080	88.86	gold quality
metanephros	UBERON:0000081	88.73	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.92
E-GEOD-110499	no	254.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting MTERF2, 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-374A-5P	99.90	71.34	2923
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-218-2-3P	98.08	67.21	601
HSA-MIR-3620-3P	97.78	64.88	772
HSA-MIR-449C-3P	97.75	67.86	462
HSA-MIR-5702	96.68	68.21	958

Literature-anchored findings (GeneRIF, showing 4)

• mTERFL is a novel mTERF family member and a serum-inhibitory factor probably participating in the regulation of cell growth (PMID:16226716)
• MTERF-domain of human MTERF3 forms a half-doughnut-shaped right-handed superhelix. (PMID:20430012)
• MTERFD1 and MTERFD3 have a role in impairing the completion of mitochondrial DNA replication (PMID:20577816)
• These findings demonstrate that MTERF2 contributes to MPP(+)-induced mitochondrial disruption and cell damage. (PMID:26826381)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mterf2	ENSDARG00000086405
mus_musculus	Mterf2	ENSMUSG00000049038
rattus_norvegicus	Mterf2	ENSRNOG00000006978
drosophila_melanogaster	mTTF	FBGN0028530

Paralogs (1): MTERF1 (ENSG00000127989)

Protein

Protein identifiers

Transcription termination factor 2, mitochondrial — Q49AM1 (reviewed: Q49AM1)

Alternative names: Mitochondrial transcription termination factor 2, Mitochondrial transcription termination factor-like protein, mTERF domain-containing protein 3, mitochondrial

All UniProt accessions (4): Q49AM1, F8VSD8, F8VSL4, F8VXH5

UniProt curated annotations — full annotation on UniProt →

Function. Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion. Mitochondrion matrix. Mitochondrion nucleoid.

Tissue specificity. Expressed in skeletal muscle, heart, liver and pancreas.

Similarity. Belongs to the mTERF family.

RefSeq proteins (2): NP_001028222, NP_079474 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003690	MTERF	Family
IPR038538	MTERF_sf	Homologous_superfamily

Pfam: PF02536

UniProt features (10 total): sequence variant 4, sequence conflict 4, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q49AM1-F1	85.03	0.73

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, GOCC_NUCLEOID, GOCC_MITOCHONDRIAL_MATRIX, PASQUALUCCI_LYMPHOMA_BY_GC_STAGE_DN, chr12q23, MYB_Q6, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, GOBP_MITOCHONDRIAL_TRANSCRIPTION, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7, PLASARI_TGFB1_TARGETS_10HR_DN

GO Biological Process (2): termination of mitochondrial transcription (GO:0006393), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): nucleic acid binding (GO:0003676), DNA binding (GO:0003677), double-stranded DNA binding (GO:0003690), protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), mitochondrial nucleoid (GO:0042645)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
binding	2
mitochondrial RNA metabolic process	1
DNA-templated transcription termination	1
mitochondrial transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
DNA binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1
mitochondrial matrix	1
nucleoid	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTERF2	MTERF3	Q96E29	847
MTERF2	MTERF4	Q7Z6M4	769
MTERF2	POLRMT	O00411	656
MTERF2	TFB2M	Q9H5Q4	621
MTERF2	NSUN4	Q96CB9	616
MTERF2	TEFM	Q96QE5	603
MTERF2	TFB1M	Q8WVM0	551
MTERF2	MRPL12	P52815	453
MTERF2	TFAM	Q00059	434
MTERF2	LRPPRC	P42704	419
MTERF2	POLG2	Q9UHN1	397
MTERF2	SSBP1	Q04837	368
MTERF2	TWNK	Q96RR1	359
MTERF2	TMEM14C	Q9P0S9	348
MTERF2	FASTKD2	Q9NYY8	344

IntAct

16 interactions, top by confidence:

A	B	Type	Score
APOD	MTERF2	psi-mi:“MI:0915”(physical association)	0.560
STX6	MTERF2	psi-mi:“MI:0915”(physical association)	0.560
MTERF2	SACM1L	psi-mi:“MI:0915”(physical association)	0.560
MRPL12		psi-mi:“MI:0914”(association)	0.350
MTERF2	DCX	psi-mi:“MI:0914”(association)	0.350
CTNNB1	ARVCF	psi-mi:“MI:0914”(association)	0.350
CTNNB1	NR3C1	psi-mi:“MI:0914”(association)	0.350
SACM1L	MTERF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): HDGFRP3 (Affinity Capture-MS), MTERF2 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), DCX (Affinity Capture-MS), PPM1A (Affinity Capture-MS), STX6 (Two-hybrid), APOD (Two-hybrid), SACM1L (Two-hybrid), MTERF2 (Affinity Capture-MS), MTERF2 (Affinity Capture-MS), DCX (Affinity Capture-MS), PPM1A (Affinity Capture-MS)

ESM2 similar proteins: A2WX30, A2XEV1, A3BN26, B4F8Z1, B4FTR7, B6TGN4, B6TTV8, B8AK78, B9EJ57, F4I933, F4IHL3, Q01IJ3, Q0DVX2, Q0JCU7, Q0WUF6, Q10CI8, Q10PZ4, Q49AM1, Q5N800, Q5QLS7, Q5R6G1, Q5R9U8, Q5VRY0, Q5XIE2, Q5ZJC8, Q60EH4, Q65XL5, Q67UU0, Q6ATB4, Q6AUK6, Q6EUK7, Q6K9C1, Q6P6Q6, Q6Y9P5, Q6YSY5, Q7X745, Q7XAP4, Q84QA7, Q84X53, Q8BKY8

Diamond homologs: Q49AM1, Q5R6G1, Q5XIE2, Q8BKY8, Q9EPI8, B9EJ57, Q5R9U8, Q8CHZ9, Q99551

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

423 predictions. Top by Δscore:

Variant	Effect	Δscore
12:106987027:C:A	donor_gain	1.0000
12:106978768:CTAT:C	acceptor_gain	0.9900
12:106978769:TAT:T	acceptor_gain	0.9900
12:106978771:TC:T	acceptor_loss	0.9900
12:106978772:C:CC	acceptor_gain	0.9900
12:106978772:CT:C	acceptor_loss	0.9900
12:106978773:T:A	acceptor_loss	0.9900
12:106986961:CGACT:C	donor_loss	0.9900
12:106986962:GACTC:G	donor_loss	0.9900
12:106986963:ACTCA:A	donor_loss	0.9900
12:106986964:CTCAC:C	donor_loss	0.9900
12:106986965:TCA:T	donor_loss	0.9900
12:106986966:CACCC:C	donor_loss	0.9900
12:106986967:A:AC	donor_gain	0.9900
12:106986967:AC:A	donor_gain	0.9900
12:106986968:C:A	donor_loss	0.9900
12:106986968:C:CC	donor_gain	0.9900
12:106986968:CC:C	donor_gain	0.9900
12:106986968:CCCGT:C	donor_gain	0.9900
12:106987026:T:TA	donor_gain	0.9800
12:106986206:G:GA	donor_gain	0.9500
12:106978770:AT:A	acceptor_gain	0.9400
12:106986968:CCCG:C	donor_gain	0.9400
12:106986213:T:TA	donor_gain	0.9300
12:106985110:CTTAC:C	donor_loss	0.9200
12:106985111:TTA:T	donor_loss	0.9200
12:106985113:ACCT:A	donor_gain	0.9200
12:106985114:CCTT:C	donor_gain	0.8900
12:106986967:ACC:A	donor_gain	0.8900
12:106986968:CCC:C	donor_gain	0.8900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000156561 (12:106983173 A>C), RS1000264003 (12:106982680 T>G), RS1000446463 (12:106982767 G>A), RS1001717459 (12:106984460 A>T), RS1001852877 (12:106977491 G>A,C,T), RS1001992530 (12:106988894 G>T), RS1002145904 (12:106983213 C>G), RS1002553145 (12:106980627 G>A), RS1002935897 (12:106980188 C>A,T), RS1003017256 (12:106978633 G>A,C), RS1003121155 (12:106985192 T>G), RS1003498540 (12:106986442 C>A), RS1003591284 (12:106979577 T>A,C), RS1003793494 (12:106986171 T>G), RS1004065334 (12:106979860 A>G)

Disease associations

OMIM: gene MIM:616929 | 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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, decreases expression	5
Acetaminophen	decreases expression, increases expression	3
Leflunomide	decreases expression	2
Nickel	decreases expression	2
Cyclosporine	decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases 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_E2CW	HAP1 MTERFD3 (-) 2	Cancer cell line	Male
CVCL_XQ69	HAP1 MTERFD3 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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