MTERF3

mitochondrial transcription termination factor 3

Basic information

Region (hg38): 8:96239398-96261610

Previous symbols: [ "MTERFD1" ]

Links

ENSG00000156469 ∙ NCBI:51001 ∙ OMIM:616930 ∙ HGNC:24258 ∙ Uniprot:Q96E29 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTERF3 gene.

• not_specified (48 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTERF3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015942.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense			49	1		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3			3
Total	0	0	53	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTERF3	protein_coding	protein_coding	ENST00000287025	7	22213

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125662	0	84	125746	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.117	215	210	1.02	0.00000995	2762
Missense in Polyphen		66	67.082	0.98388		934
Synonymous	0.625	68	74.9	0.908	0.00000358	783
Loss of Function	0.704	14	17.1	0.816	7.91e-7	224

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000912	0.000910
Ashkenazi Jewish	0.00	0.00
East Asian	0.000442	0.000435
Finnish	0.0000956	0.0000924
European (Non-Finnish)	0.000225	0.000220
Middle Eastern	0.000442	0.000435
South Asian	0.000905	0.000850
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity). {ECO:0000250|UniProtKB:Q8R3J4, ECO:0000269|PubMed:17662942}.
• Pathway: Mitochondrial Gene Expression;Pink/Parkin Mediated Mitophagy;Mitophagy (Consensus)

Recessive Scores

• pRec: 0.0891

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.55

Essentials

• essential_gene_gene_trap: H

Gene ontology

• Biological process: mitochondrial transcription;macroautophagy;mitochondrial translation;negative regulation of transcription, DNA-templated;mitochondrial ribosome assembly
• Cellular component: nucleoplasm;mitochondrion;mitochondrial outer membrane
• Molecular function: double-stranded DNA binding;protein binding;transcription regulatory region DNA binding