DMAC2

distal membrane arm assembly component 2, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 19:41431318-41440717

Previous symbols: [ "ATP5SL" ]

Links

ENSG00000105341 ∙ NCBI:55101 ∙ OMIM:617262 ∙ HGNC:25496 ∙ Uniprot:Q9NW81 ∙ 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 DMAC2 gene.

• not_specified (46 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMAC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018035.3. 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				3		3
missense			37	7		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMAC2	protein_coding	protein_coding	ENST00000417807	6	9400

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.98e-8	0.254	125702	0	44	125746	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.226	159	167	0.951	0.0000106	1702
Missense in Polyphen		56	57.832	0.96832		623
Synonymous	0.0116	69	69.1	0.998	0.00000455	508
Loss of Function	0.502	13	15.1	0.861	8.79e-7	144

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000256	0.000255
Middle Eastern	0.000163	0.000163
South Asian	0.000164	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I. {ECO:0000269|PubMed:27626371}.

Recessive Scores

• pRec: 0.0788

Intolerance Scores

• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.17

Haploinsufficiency Scores

• pHI: 0.0446
• hipred: N
• hipred_score: 0.146
• ghis: 0.472

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Dmac2

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;mitochondrial respiratory chain complex I assembly
• Cellular component: mitochondrial respiratory chain complex I;SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity