DAGLA

diacylglycerol lipase alpha, the group of Lipases

Basic information

Region (hg38): 11:61680391-61747001

Previous symbols: [ "C11orf11" ]

Links

ENSG00000134780 ∙ NCBI:747 ∙ OMIM:614015 ∙ HGNC:1165 ∙ Uniprot:Q9Y4D2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neuroocular syndrome 2, paroxysmal type	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	35737950

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DAGLA gene.

• Inborn_genetic_diseases (98 variants)
• not_provided (35 variants)
• DAGLA-related_disorder (18 variants)
• Benign_paroxysmal_tonic_upgaze_of_childhood_with_ataxia (7 variants)
• Autism (1 variants)
• Autosomal_dominant_cerebellar_ataxia (1 variants)
• not_specified (1 variants)
• Attention_deficit_hyperactivity_disorder (1 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAGLA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006133.3. 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				19	3	22
missense			107	10	2	119
nonsense	3	1	2			6
start loss						0
frameshift	2	2	5			9
splice donor/acceptor (+/-2bp)			3			3
Total	5	3	117	29	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAGLA	protein_coding	protein_coding	ENST00000257215	19	66569

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125735	0	7	125742	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.01	402	700	0.574	0.0000494	6687
Missense in Polyphen		136	328.41	0.41412		3149
Synonymous	-0.0920	317	315	1.01	0.0000237	2217
Loss of Function	5.83	3	45.4	0.0660	0.00000213	505

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000451	0.0000439
Middle Eastern	0.0000547	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. {ECO:0000269|PubMed:14610053}.
• Pathway: Aldosterone synthesis and secretion - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Cell-type Dependent Selectivity of CCK2R Signaling;Cannabinoid receptor signaling;Signaling by GPCR;Signal Transduction;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Arachidonate production from DAG;Hemostasis;G alpha (q) signalling events;GPCR downstream signalling;N-cadherin signaling events (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.141
• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.96

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.369

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: dagla
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: hypoplastic

Gene ontology

• Biological process: G protein-coupled glutamate receptor signaling pathway;neuroblast proliferation;arachidonic acid metabolic process;neurogenesis;neurotransmitter biosynthetic process;diacylglycerol catabolic process;endocannabinoid signaling pathway;retrograde trans-synaptic signaling by endocannabinoid
• Cellular component: plasma membrane;varicosity;postsynaptic membrane;integral component of postsynaptic membrane
• Molecular function: metal ion binding;acylglycerol lipase activity