DMAC2L

distal membrane arm assembly component 2 like

Basic information

Region (hg38): 14:50312323-50335558

Previous symbols: [ "ATP5S" ]

Links

ENSG00000125375 ∙ NCBI:27109 ∙ OMIM:618579 ∙ HGNC:18799 ∙ Uniprot:Q99766 ∙ 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 DMAC2L gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMAC2L 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in DMAC2L

This is a list of pathogenic ClinVar variants found in the DMAC2L region.

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

Position	Type	Phenotype	Significance	ClinVar
14-50321516-A-T		not specified	Uncertain significance (Jul 12, 2022)
14-50321522-G-A		not specified	Uncertain significance (Jan 08, 2024)
14-50321558-G-C		not specified	Uncertain significance (Aug 08, 2022)
14-50322534-A-G		not specified	Uncertain significance (Feb 28, 2023)
14-50322560-G-A		not specified	Uncertain significance (Sep 28, 2021)
14-50322572-C-T		not specified	Uncertain significance (Jan 16, 2024)
14-50322651-A-T		not specified	Uncertain significance (Jul 06, 2021)
14-50322683-G-A		not specified	Likely benign (Aug 04, 2021)
14-50323978-G-A		not specified	Uncertain significance (Dec 17, 2023)
14-50324037-C-G		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMAC2L	protein_coding	protein_coding	ENST00000311459	5	23233

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000645	0.481	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.345	112	123	0.912	0.00000655	1427
Missense in Polyphen		43	40.204	1.0696		433
Synonymous	0.766	40	46.7	0.857	0.00000275	384
Loss of Function	0.618	9	11.2	0.801	5.16e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000429	0.000426
Ashkenazi Jewish	0.00	0.00
East Asian	0.000653	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.000653	0.000653
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0706

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.49

Haploinsufficiency Scores

• pHI: 0.0636
• hipred: N
• hipred_score: 0.210
• ghis: 0.446

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Atp5s
• Phenotype: vision/eye phenotype