FAAH2

fatty acid amide hydrolase 2

Basic information

Region (hg38): X:57286706-57489193

Previous symbols: [ "AMDD" ]

Links

ENSG00000165591 ∙ NCBI:158584 ∙ OMIM:300654 ∙ HGNC:26440 ∙ Uniprot:Q6GMR7 ∙ 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 FAAH2 gene.

• not_specified (73 variants)
• not_provided (20 variants)
• FAAH2-related_disorder (12 variants)
• Meckel-like_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAAH2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000174912.4. 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				5		5
missense			80	8	1	89
nonsense	1		2	1		4
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)	1		2			3
Total	2	0	86	14	1

Highest pathogenic variant AF is 0.00000331088

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAAH2	protein_coding	protein_coding	ENST00000374900	11	202491

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.89e-21	0.0000307	125393	118	232	125743	0.00139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.63	325	186	1.75	0.0000129	3428
Missense in Polyphen		93	60.035	1.5491		1027
Synonymous	-4.66	115	66.6	1.73	0.00000445	1054
Loss of Function	-2.20	26	16.4	1.59	0.00000117	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00379	0.00357
Ashkenazi Jewish	0.00	0.00
East Asian	0.00187	0.00136
Finnish	0.0000635	0.0000462
European (Non-Finnish)	0.00267	0.00191
Middle Eastern	0.00187	0.00136
South Asian	0.000746	0.000425
Other	0.00137	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates. {ECO:0000269|PubMed:17015445}.
• Pathway: Metabolism of lipids;anandamide degradation;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.922
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.42

Haploinsufficiency Scores

• pHI: 0.171
• hipred: N
• hipred_score: 0.187
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.180

Gene Damage Prediction

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

Gene ontology

• Biological process: arachidonic acid metabolic process
• Cellular component: lipid droplet;integral component of membrane
• Molecular function: fatty acid amide hydrolase activity;oleamide hydrolase activity;anandamide amidohydrolase activity