FAAH2 (fatty acid amide hydrolase 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (19)

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) Show/Hide all (9)

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 Pathway:

Arachidonic acid metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Meckel-like syndrome	Pathogenic	rs1333565102	RCV001844344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	28196072	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	25401301	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAAH2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	40316537	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30842574	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32514122	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	12177367, 12359145, 15199382, 17641262, 19605412, 21204215, 26029707, 29659809, 30945278, 32383243	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	25885783	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25885783	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	25401301		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	25401301		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	26239645	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20655035	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	25885783		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	25401301		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PDHB 2 shared diseasesRenal cell carcinoma, Irritable bowel syndrome 2 shared evidence sourcesCTD (Renal cell carcinoma), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Renal cell carcinoma, Irritable bowel syndrome — evidence mostly CTD. TFE3 2 shared diseasesRenal cell carcinoma, X-linked complex neurodevelopmental disorder 2 shared evidence sourcesCTD (Renal cell carcinoma), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Renal cell carcinoma, X-linked complex neurodevelopmental disorder — evidence mostly CTD. CTSB 2 shared diseasesRenal cell carcinoma, Irritable bowel syndrome 2 shared evidence sourcesCTD (Renal cell carcinoma), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Renal cell carcinoma, Irritable bowel syndrome — evidence mostly CTD. KDM5C 2 shared diseasesRenal cell carcinoma, X-linked complex neurodevelopmental disorder 2 shared evidence sourcesCTD (Renal cell carcinoma), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Renal cell carcinoma, X-linked complex neurodevelopmental disorder — evidence mostly CTD. ARHGEF9 2 shared diseasesHypogonadism, X-linked complex neurodevelopmental disorder 2 shared evidence sourcesGWAS catalog (Hypogonadism), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Hypogonadism, X-linked complex neurodevelopmental disorder — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PDHB	2	["Renal cell carcinoma","Irritable bowel syndrome"]	0	[]	2	["CTD (Renal cell carcinoma)","GWAS catalog (Irritable bowel syndrome)"]
TFE3	2	["Renal cell carcinoma","X-linked complex neurodevelopmental disorder"]	0	[]	2	["CTD (Renal cell carcinoma)","ClinGen (X-linked complex neurodevelopmental disorder)"]
CTSB	2	["Renal cell carcinoma","Irritable bowel syndrome"]	0	[]	2	["CTD (Renal cell carcinoma)","GWAS catalog (Irritable bowel syndrome)"]
KDM5C	2	["Renal cell carcinoma","X-linked complex neurodevelopmental disorder"]	0	[]	2	["CTD (Renal cell carcinoma)","ClinGen (X-linked complex neurodevelopmental disorder)"]
ARHGEF9	2	["Hypogonadism","X-linked complex neurodevelopmental disorder"]	0	[]	2	["GWAS catalog (Hypogonadism)","ClinGen (X-linked complex neurodevelopmental disorder)"]

Diseases Linked via Similar Genes

Intellectual developmental disorder Linked via 3 of 5 related genesTFE3, KDM5C, ARHGEF9 Systemic lupus erythematosus Linked via 2 of 5 related genesPDHB, CTSB Neurodevelopmental disorder Linked via 2 of 5 related genesTFE3, KDM5C Intellectual developmental disorder, x-linked Linked via 2 of 5 related genesTFE3, KDM5C Autism Linked via 2 of 5 related genesKDM5C, ARHGEF9

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intellectual developmental disorder	3	["TFE3","KDM5C","ARHGEF9"]
Systemic lupus erythematosus	2	["PDHB","CTSB"]
Neurodevelopmental disorder	2	["TFE3","KDM5C"]
Intellectual developmental disorder, x-linked	2	["TFE3","KDM5C"]
Autism	2	["KDM5C","ARHGEF9"]