NAAA

N-acylethanolamine acid amidase

Basic information

Region (hg38): 4:75913659-75941013

Previous symbols: [ "ASAHL" ]

Links

ENSG00000138744 ∙ NCBI:27163 ∙ OMIM:607469 ∙ HGNC:736 ∙ Uniprot:Q02083 ∙ 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 NAAA gene.

• Inborn genetic diseases (19 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAAA 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				3	1	4
missense			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	18	5	1

Variants in NAAA

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

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

Position	Type	Phenotype	Significance	ClinVar
4-75914945-C-T		not specified	Uncertain significance (Mar 27, 2023)
4-75918783-A-G		not specified	Uncertain significance (May 30, 2023)
4-75919952-T-C		not specified	Uncertain significance (Apr 12, 2023)
4-75920742-G-A		not specified	Uncertain significance (Feb 17, 2024)
4-75920769-A-C		not specified	Uncertain significance (Sep 29, 2023)
4-75920965-A-T		not specified	Uncertain significance (Nov 07, 2022)
4-75920978-A-T		not specified	Uncertain significance (Aug 01, 2022)
4-75920987-G-A		not specified	Uncertain significance (Mar 24, 2023)
4-75921004-C-T			Benign (Mar 29, 2018)
4-75921024-G-A		not specified	Uncertain significance (Mar 06, 2023)
4-75921029-G-A		not specified	Uncertain significance (Jun 11, 2021)
4-75921029-G-C		not specified	Uncertain significance (Aug 02, 2023)
4-75921055-A-T		not specified	Uncertain significance (Jan 23, 2023)
4-75921069-G-A		not specified	Uncertain significance (Aug 24, 2023)
4-75921130-G-A			Benign (Mar 29, 2018)
4-75925738-G-A			Likely benign (Jun 04, 2018)
4-75925806-C-T		not specified	Uncertain significance (May 01, 2022)
4-75931271-C-T		not specified	Uncertain significance (Jun 23, 2021)
4-75936121-T-A		not specified	Uncertain significance (Dec 19, 2022)
4-75940080-C-T		not specified	Uncertain significance (Dec 19, 2022)
4-75940091-G-T		not specified	Uncertain significance (Apr 13, 2022)
4-75940132-G-A			Likely benign (Apr 04, 2018)
4-75940151-T-C			Likely benign (Mar 29, 2018)
4-75940155-G-C		not specified	Uncertain significance (Dec 19, 2022)
4-75940778-C-T		not specified	Uncertain significance (Mar 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NAAA	protein_coding	protein_coding	ENST00000286733	10	30396

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.07e-10	0.241	124034	10	751	124795	0.00305

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.825	174	207	0.839	0.0000112	2290
Missense in Polyphen		54	65.484	0.82463		719
Synonymous	1.14	73	86.5	0.843	0.00000482	734
Loss of Function	0.754	17	20.7	0.821	0.00000107	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0426	0.0427
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.000281	0.000278
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000311	0.000309
Middle Eastern	0.000281	0.000278
South Asian	0.000426	0.000425
Other	0.000995	0.000990

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N- palmitoylethanolamine > N-myristoylethanolamine > N- lauroylethanolamine = N-stearoylethanolamine > N- arachidonoylethanolamine > N-oleoylethanolamine. Also exhibits weak hydrolytic activity against the ceramides N- lauroylsphingosine and N-palmitoylsphingosine. {ECO:0000269|PubMed:15655246}.
• Pathway: Neuronal System;Neurotransmitter release cycle;Transmission across Chemical Synapses (Consensus)

Recessive Scores

• pRec: 0.219

Intolerance Scores

• loftool: 0.851
• rvis_EVS: 1.75
• rvis_percentile_EVS: 96.67

Haploinsufficiency Scores

• pHI: 0.0997
• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0352

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Naaa
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: lipid metabolic process;neurotransmitter secretion;biological_process
• Cellular component: cytoplasm;lysosomal lumen;extracellular exosome;presynapse
• Molecular function: transcription factor binding;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds