FAAH2 (fatty acid amide hydrolase 2)

Gene

• Entrez ID: 158584
• Gene name: Fatty acid amide hydrolase 2
• Gene symbol: FAAH2
• Synonyms (NCBI Gene): AMDD
• Chromosome: X
• Chromosome location: Xp11.21
• Summary: This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555959573	CAAGTACAGGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017603	hsa-miR-335-5p	Microarray	18185580
MIRT2223216	hsa-miR-1231	CLIP-seq
MIRT2223217	hsa-miR-137	CLIP-seq
MIRT2223218	hsa-miR-25	CLIP-seq
MIRT2223219	hsa-miR-32	CLIP-seq
MIRT2223220	hsa-miR-346	CLIP-seq
MIRT2223221	hsa-miR-363	CLIP-seq
MIRT2223222	hsa-miR-367	CLIP-seq
MIRT2223223	hsa-miR-4288	CLIP-seq
MIRT2223224	hsa-miR-4325	CLIP-seq
MIRT2223225	hsa-miR-4496	CLIP-seq
MIRT2223226	hsa-miR-4666-5p	CLIP-seq
MIRT2223227	hsa-miR-4735-5p	CLIP-seq
MIRT2223228	hsa-miR-4775	CLIP-seq
MIRT2223229	hsa-miR-590-3p	CLIP-seq
MIRT2223230	hsa-miR-632	CLIP-seq
MIRT2223231	hsa-miR-676	CLIP-seq
MIRT2223232	hsa-miR-92a	CLIP-seq
MIRT2223233	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017064	Function	Fatty acid amide hydrolase activity	EXP	19926788
GO:0017064	Function	Fatty acid amide hydrolase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	TAS

Other IDs

• MIM: 300654
• HGNC: 26440
• e!Ensembl: ENSG00000165591

Protein

• UniProt ID: Q6GMR7
• Protein name: Fatty-acid amide hydrolase 2 (EC 3.5.1.99) (Amidase domain-containing protein) (Anandamide amidohydrolase 2) (Oleamide hydrolase 2)
• Protein function: Catalyzes the hydrolysis of endogenous amidated lipids like the sleep-inducing lipid oleamide ((9Z)-octadecenamide), the endocannabinoid anandamide (N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine), as well as other fatty amides, to their corres
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01425	Amidase	69 → 513	Amidase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney, liver, lung, prostate, heart and ovary. {ECO:0000269|PubMed:17015445, ECO:0000305|PubMed:19926788}.
• Sequence:

  MAPSFTARIQLFLLRALGFLIGLVGRAALVLGGPKFASKTPRPVTEPLLLLSGMQLAKLI
  RQRKVKCIDVVQAYINRIKDVNPMINGIVKYRFEEAMKEAHAVDQKLAEKQEDEATLENK
  WPFLGVPLTVKEAFQLQGMPNSSGLMNRRDAIAKTDATVVALLKGAGAIPLGITNCSELC
  MWYESSNKIYGRSNNPYDLQHIVGGSSGGEGCTLAAACSVIGVGSDIGGSIRMPAFFNGI
  FGHKPSPGVVPNKGQFPLAVGAQELFLCTGPMCRYAEDLAPMLKVMAGPGIKRLKLDTKV
  HLKDLKFYWMEHDGGSFLMSKVDQDLIMTQKKVVVHLETILGASVQHVKLKKMKYSFQLW
  IAMMSAKGHDGKEPVKFVDLLGDHGKHVSPLWELIKWCLGLSVYTIPSIGLALLEEKLRY
  SNEKYQKFKAVEESLRKELVDMLGDDGVFLYPSHPTVAPKHHVPLTRPFNFAYTGVFSAL
  GLPVTQCPLGLNAKGLPLGIQVVAGPFNDHLTLAVAQYLEKTFGGWVCPGKF

• Sequence length: 532

Pathways

Reactome:

Arachidonic acid metabolism

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Meckel-like syndrome	Pathogenic	rs1333565102	RCV001844344

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Likely benign	rs144419744	RCV005933291
Clear cell carcinoma of kidney	Likely benign	rs144419744	RCV005933292
FAAH2-related disorder	Uncertain significance; Likely benign; Benign	rs766389808, rs1351914209, rs2051826047, rs144419744, rs781669402, rs139175109, rs375354837, rs138462668, rs186994377, rs2516023	RCV003422448 RCV003391529 RCV003909381 RCV003937369 RCV003914657 RCV003931801 RCV003939706 RCV003924264 RCV003957280 RCV003972264
Familial cancer of breast	Likely benign	rs144419744	RCV005933289
Hepatocellular carcinoma	Likely benign	rs144419744	RCV005933290
Nonpapillary renal cell carcinoma	Uncertain significance	rs762458246	RCV005932528
Sarcoma	Likely benign	rs144419744	RCV005933293
Thyroid cancer, nonmedullary, 1	Likely benign	rs144419744	RCV005933294

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	25885783
Autistic Disorder	Associate	25885783
Genetic Diseases Inborn	Associate	25885783
Idiopathic Hypogonadotropic Hypogonadism	Associate	26239645
Intellectual Disability	Associate	20655035
Lysosomal acid lipase deficiency	Associate	25885783
Mental Disorders	Associate	25885783