MTFR2

mitochondrial fission regulator 2

Basic information

Region (hg38): 6:136231024-136250335

Previous symbols: [ "DUFD1", "FAM54A" ]

Links

ENSG00000146410 ∙ NCBI:113115 ∙ ∙ HGNC:21115 ∙ Uniprot:Q6P444 ∙ 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 MTFR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTFR2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			36	5	1	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	5	1

Variants in MTFR2

This is a list of pathogenic ClinVar variants found in the MTFR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-136231295-G-C		not specified	Uncertain significance (Dec 03, 2024)
6-136231307-T-A		not specified	Uncertain significance (Jan 04, 2024)
6-136231354-C-G			Benign (Apr 16, 2018)
6-136231373-A-C		not specified	Uncertain significance (Aug 08, 2022)
6-136233339-G-C		not specified	Uncertain significance (Aug 14, 2023)
6-136233342-T-C		not specified	Uncertain significance (Dec 14, 2023)
6-136233356-G-C		not specified	Uncertain significance (Nov 30, 2022)
6-136233482-G-A		not specified	Uncertain significance (Dec 08, 2023)
6-136233483-G-C		not specified	Uncertain significance (Feb 28, 2023)
6-136233488-C-A		not specified	Uncertain significance (May 10, 2022)
6-136233489-C-T		not specified	Uncertain significance (Sep 02, 2024)
6-136233497-G-A		not specified	Uncertain significance (Jan 30, 2024)
6-136239467-G-A		not specified	Uncertain significance (Jun 26, 2024)
6-136239473-T-A		not specified	Uncertain significance (Oct 30, 2023)
6-136239488-C-A		not specified	Uncertain significance (Oct 22, 2024)
6-136239495-C-T		not specified	Uncertain significance (Aug 12, 2022)
6-136239509-C-T		not specified	Uncertain significance (Jul 26, 2024)
6-136239536-T-A		not specified	Uncertain significance (Oct 29, 2024)
6-136239562-T-C		not specified	Uncertain significance (Dec 07, 2024)
6-136239583-G-A		not specified	Likely benign (Nov 21, 2024)
6-136239607-G-A		not specified	Uncertain significance (May 15, 2024)
6-136239640-C-A		not specified	Uncertain significance (Jul 26, 2024)
6-136239650-C-T		not specified	Likely benign (Nov 15, 2024)
6-136239661-C-T		not specified	Uncertain significance (Sep 14, 2022)
6-136239698-G-A		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTFR2	protein_coding	protein_coding	ENST00000420702	7	19312

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000266	0.765	125706	0	17	125723	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.300	194	206	0.941	0.0000107	2525
Missense in Polyphen		48	49.499	0.96972		616
Synonymous	0.950	61	71.2	0.857	0.00000376	741
Loss of Function	1.24	11	16.4	0.669	9.10e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000621	0.0000621
Ashkenazi Jewish	0.000111	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000542	0.0000528
Middle Eastern	0.00	0.00
South Asian	0.0000355	0.0000327
Other	0.00117	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.85

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.123
• ghis: 0.591

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mtfr2

Gene ontology

• Biological process: mitochondrial fission;mitochondrion organization;aerobic respiration
• Cellular component: mitochondrion
• Molecular function: protein binding