Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26090
Gene name Gene Name - the full gene name approved by the HGNC.
Abhydrolase domain containing 12, lysophospholipase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABHD12
Synonyms (NCBI Gene) Gene synonyms aliases
ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2, hABHD12
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PHARC
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiologica
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11904930 C>G,T Conflicting-interpretations-of-pathogenicity, benign, likely-benign Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs41306784 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs146028040 C>T Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs188888939 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs267606624 G>A Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023580 hsa-miR-1-3p Proteomics 18668040
MIRT042640 hsa-miR-423-3p CLASH 23622248
MIRT042277 hsa-miR-484 CLASH 23622248
MIRT718097 hsa-miR-4485-5p HITS-CLIP 19536157
MIRT718096 hsa-miR-1205 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002084 Process Protein depalmitoylation IEA
GO:0004620 Function Phospholipase activity IDA 30643283
GO:0004622 Function Lysophospholipase activity IBA 21873635
GO:0004622 Function Lysophospholipase activity IDA 25290914, 30237167
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613599 15868 ENSG00000100997
Protein
UniProt ID Q8N2K0
Protein name Lysophosphatidylserine lipase ABHD12 (EC 3.1.-.-) (2-arachidonoylglycerol hydrolase ABHD12) (Abhydrolase domain-containing protein 12) (hABHD12) (Monoacylglycerol lipase ABHD12) (EC 3.1.1.23) (Oxidized phosphatidylserine lipase ABHD12) (EC 3.1.-.-)
Protein function Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30643283,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12146 Hydrolase_4 165 297 Serine aminopeptidase, S33 Family
Sequence
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKR
ALGRRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQ
GLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGT
RGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGF
DWF
FLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQ
FVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Arachidonate production from DAG
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ataxia Ataxias, Hereditary rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986
View all (52 more)
27604308
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cone dystrophy Cone Dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709
View all (28 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
24697911, 29571850
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38177255
Ataxia Associate 22938382, 34573385
Cataract Associate 22938382, 24027063, 34573385, 39826350
Cone Rod Dystrophies Associate 34223797
Growth Disorders Associate 24027063
Hearing Loss Associate 22938382, 34021019, 34573385, 37803361, 39826350
Hearing Loss Stimulate 22938382
Hearing Loss Sensorineural Associate 34223797
Immunoglobulin G4 Related Disease Associate 34223797
Neoplasms Associate 32195565