PM20D1

peptidase M20 domain containing 1, the group of M20 metallopeptidases

Basic information

Region (hg38): 1:205828025-205850132

Links

ENSG00000162877 ∙ NCBI:148811 ∙ OMIM:617124 ∙ HGNC:26518 ∙ Uniprot:Q6GTS8 ∙ 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 PM20D1 gene.

• not_specified (81 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PM20D1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152491.5. 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	2		3
missense			76	7	1	84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	9	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PM20D1	protein_coding	protein_coding	ENST00000367136	13	22111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125637	1	110	125748	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.417	266	286	0.931	0.0000158	3265
Missense in Polyphen		73	74.372	0.98155		914
Synonymous	-0.0747	120	119	1.01	0.00000731	1012
Loss of Function	-0.0642	27	26.6	1.01	0.00000148	279

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00117	0.00117
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000544	0.000489
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000370	0.000369
Middle Eastern	0.000544	0.000489
South Asian	0.000926	0.000915
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration. {ECO:0000269|PubMed:27374330}.

Recessive Scores

• pRec: 0.0669

Intolerance Scores

• loftool: 0.944
• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.22

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.233

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: proteolysis;cellular amino acid metabolic process;nitrogen compound metabolic process;amide biosynthetic process;cellular amide catabolic process;cellular lipid metabolic process;energy homeostasis;negative regulation of neuron death;adaptive thermogenesis;regulation of oxidative phosphorylation uncoupler activity
• Cellular component: extracellular exosome
• Molecular function: peptidase activity;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;lyase activity;metal ion binding