Gene Gene information from NCBI Gene database.
Entrez ID 747
Gene name Diacylglycerol lipase alpha
Gene symbol DAGLA
Synonyms (NCBI Gene)
C11orf11DAGL(ALPHA)DAGLALPHANOC2NSDDR
Chromosome 11
Chromosome location 11q12.2
Summary This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
miRNA miRNA information provided by mirtarbase database.
208
miRTarBase ID miRNA Experiments Reference
MIRT018137 hsa-miR-335-5p Microarray 18185580
MIRT440850 hsa-miR-127-3p HITS-CLIP 24374217
MIRT440850 hsa-miR-127-3p HITS-CLIP 24374217
MIRT922807 hsa-miR-1185 CLIP-seq
MIRT922808 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0004465 Function Lipoprotein lipase activity IBA
GO:0005515 Function Protein binding IPI 23502535, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005768 Component Endosome IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614015 1165 ENSG00000134780
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4D2
Protein name Diacylglycerol lipase-alpha (DAGL-alpha) (DGL-alpha) (EC 3.1.1.116) (Neural stem cell-derived dendrite regulator) (Sn1-specific diacylglycerol lipase alpha)
Protein function Serine hydrolase that hydrolyzes arachidonic acid-esterified diacylglycerols (DAGs) to produce the principal endocannabinoid, 2-arachidonoylglycerol (2-AG) (PubMed:14610053, PubMed:23502535, PubMed:26668358). Preferentially hydrolyzes sn-1 fatty
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01764 Lipase_3 394 533 Lipase (class 3) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and pancreas. {ECO:0000269|PubMed:14610053, ECO:0000269|PubMed:16051747}.
Sequence
MPGIVVFRRRWSVGSDDLVLPAIFLFLLHTTWFVILSVVLFGLVYNPHEACSLNLVDHGR
GYLGILLSCMIAEMAIIWLSMRGGILYTEPRDSMQYVLYVRLAILVIEFIYAIVGIVWLT
QYYTSCNDLTAKNVTLGMVVCNWVVILSVCITVLCVFDPTGRTFVKLRATKRRQRNLRTY
NLRHRLEEGQATSWSRRLKVFLCCTRTKDSQSDAYSEIAYLFAEFFRDLDIVPSDIIAGL
VLLRQRQRAKRNAVLDEANNDILAFLSGMPVTRNTKYLDLKNSQEMLRYKEVCYYMLFAL
AAYGWPMYLMRKPACGLCQLARSCSCCLCPARPRFAPGVTIEEDNCCGCNAIAIRRHFLD
ENMTAVDIVYTSCHDAVYETPFYVAVDHDKKKVVISIRGTLSPKDALTDLTGDAERLPVE
GHHGTWLGHKGMVLSAEYIKKKLEQEMVLSQAFGRDLGRGTKHYGLIVVGHSLGAGTAAI
LSFLLRPQYPTLKCFAYSPPGGLLSEDAMEYSKEFVTAVVLGKDLVPRIGLSQ
LEGFRRQ
LLDVLQRSTKPKWRIIVGATKCIPKSELPEEVEVTTLASTRLWTHPSDLTIALSASTPLY
PPGRIIHVVHNHPAEQCCCCEQEEPTYFAIWGDNKAFNEVIISPAMLHEHLPYVVMEGLN
KVLENYNKGKTALLSAAKVMVSPTEVDLTPELIFQQQPLPTGPPMPTGLALELPTADHRN
SSVRSKSQSEMSLEGFSEGRLLSPVVAAAARQDPVELLLLSTQERLAAELQARRAPLATM
ESLSDTESLYSFDSRRSSGFRSIRGSPSLHAVLERDEGHLFYIDPAIPEENPSLSSRTEL
LAADSLSKHSQDTQPLEAALGSGGVTPERPPSAAANDEEEEVGGGGGGPASRGELALHNG
RLGDSPSPQVLEFAEFIDSLFNLDSKSSSFQDLYCMVVPESPTSDYAEGPKSPSQQEILL
RAQFEPNLVPKPPRLFAGSADPSSGISLSPSFPLSSSGELMDLTPTGLSSQECLAADKIR
TSTPTGHGASPAKQDELVISAR
Sequence length 1042
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Retrograde endocannabinoid signaling
Aldosterone synthesis and secretion
  Arachidonate production from DAG
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Benign paroxysmal tonic upgaze of childhood with ataxia Pathogenic rs2540756572, rs2540756298, rs998640015, rs2540756474 RCV004526288
RCV004526296
RCV004526297
RCV004526299
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Attention deficit hyperactivity disorder Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DAGLA-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Ataxia Pubtator 35737950 Associate
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 28332277 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 29145497
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 29145497 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Diseases Brain disease Pubtator 29145497 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37414748 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 30787385 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 29145497, 35737950 Associate
★☆☆☆☆
Found in Text Mining only
Lip and Oral Cavity Carcinoma Lip and Oral Cavity Carcinoma BEFREE 29614312
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 25592173 Associate
★☆☆☆☆
Found in Text Mining only