ABHD12 abhydrolase domain containing 12, lysophospholipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABHD12provided by HGNC
Official Full Name: abhydrolase domain containing 12, lysophospholipaseprovided by HGNC
Primary source: HGNC:HGNC:15868
See related: Ensembl:ENSG00000100997 MIM:613599; AllianceGenome:HGNC:15868
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PHARC; ABHD12A; BEM46L2; hABHD12; C20orf22; dJ965G21.2
Summary: 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 physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in thyroid (RPKM 21.6), brain (RPKM 16.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.21

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (25294743..25390835, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (25359833..25455939, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (25275379..25371471, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
Title: The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Title: Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
Title: Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
ABHD12 plays a crucial role in cell proliferation, migration, and invasion of breast cancer cells.
Title: ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion.
Findings in Usher Syndrome predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12.
Title: A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
ABHD12 is enriched on the endoplasmic reticulum membrane, where most of the very-long-chain fatty acids are biosynthesized in cells.
Title: Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.
This study presented the various mutation of ABHD12 responsible for PHARC syndrome.
Title: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes.
Title: Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems.
Title: Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12.
Title: Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
PHARC syndrome MedGen: C2675204 OMIM: 612674 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12467 (e-PCR)
- UniSTS:83742

RH76548 (e-PCR)
- UniSTS:90159

RH39023 (e-PCR)
- UniSTS:86134

G62120 (e-PCR)
- UniSTS:139170

D20S589E (e-PCR)
- UniSTS:92844

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylglycerol lipase activity	TAS Traceable Author Statement more info
enables lysophospholipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysophospholipase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyl-(protein) hydrolase activity	IEA Inferred from Electronic Annotation more info
enables phospholipase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adult walking behavior	IEA Inferred from Electronic Annotation more info
involved_in arachidonic acid metabolic process	TAS Traceable Author Statement more info
involved_in glycerophospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in macromolecule depalmitoylation	IEA Inferred from Electronic Annotation more info
involved_in monoacylglycerol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoacylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylserine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylserine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in response to auditory stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IEA Inferred from Electronic Annotation more info
located_in dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: lysophosphatidylserine lipase ABHD12

Names: 2-arachidonoylglycerol hydrolase ABHD12; abhydrolase domain-containing protein 12; monoacylglycerol lipase ABHD12; oxidized phosphatidylserine lipase ABHD12

NP_001035937.1

EC 3.1.1.23

NP_056415.1

EC 3.1.1.23

XP_011527516.1

EC 3.1.1.23

XP_016883286.1

EC 3.1.1.23

XP_047296043.1

EC 3.1.1.23

XP_047296044.1

EC 3.1.1.23

XP_047296045.1

EC 3.1.1.23

XP_047296046.1

EC 3.1.1.23

XP_047296047.1

EC 3.1.1.23

XP_047296048.1

EC 3.1.1.23

XP_047296049.1

EC 3.1.1.23

XP_047296050.1

EC 3.1.1.23

XP_054179303.1

EC 3.1.1.23

XP_054179304.1

EC 3.1.1.23

XP_054179305.1

EC 3.1.1.23

XP_054179306.1

EC 3.1.1.23

XP_054179307.1

EC 3.1.1.23

XP_054179308.1

EC 3.1.1.23

XP_054179309.1

EC 3.1.1.23

XP_054179310.1

EC 3.1.1.23

XP_054179311.1

EC 3.1.1.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028119.1 RefSeqGene

Range

5148..95769

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042472.3 → NP_001035937.1 lysophosphatidylserine lipase ABHD12 isoform a

See identical proteins and their annotated locations for NP_001035937.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (a).

Source sequence(s)

AK075023, BQ672998, BQ961739

Consensus CDS

CCDS42857.1

UniProtKB/Swiss-Prot

A6NED4, A6NJ90, A8K450, B4DE71, Q5T710, Q5T711, Q8N2K0, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6

Related

ENSP00000341408.5, ENST00000339157.10

Conserved Domains (1) summary

pfam12146
Location:165 → 351

Hydrolase_4; Serine aminopeptidase, S33
NM_015600.5 → NP_056415.1 lysophosphatidylserine lipase ABHD12 isoform b

See identical proteins and their annotated locations for NP_056415.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 3' terminal exon compared to variant 1, resulting in a longer isoform (b) with a distinct C-terminus compared to isoform a.

Source sequence(s)

AK293495, BC014049, BQ961739

Consensus CDS

CCDS13172.1

UniProtKB/Swiss-Prot

Q8N2K0

Related

ENSP00000365725.3, ENST00000376542.8

Conserved Domains (1) summary

pfam12146
Location:165 → 351

Hydrolase_4; Serine aminopeptidase, S33

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

25294743..25390835 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440090.1 → XP_047296046.1 lysophosphatidylserine lipase ABHD12 isoform X5
XM_011529214.3 → XP_011527516.1 lysophosphatidylserine lipase ABHD12 isoform X2

Conserved Domains (1) summary

pfam12146
Location:165 → 352

Hydrolase_4; Serine aminopeptidase, S33
XM_047440093.1 → XP_047296049.1 lysophosphatidylserine lipase ABHD12 isoform X7

UniProtKB/TrEMBL

A0A5F9ZH71

Related

ENSP00000500106.1, ENST00000672566.1
XM_047440089.1 → XP_047296045.1 lysophosphatidylserine lipase ABHD12 isoform X4
XM_047440087.1 → XP_047296043.1 lysophosphatidylserine lipase ABHD12 isoform X1
XM_047440092.1 → XP_047296048.1 lysophosphatidylserine lipase ABHD12 isoform X6
XM_047440094.1 → XP_047296050.1 lysophosphatidylserine lipase ABHD12 isoform X9

Related

ENSP00000459121.1, ENST00000576316.5
XM_047440091.1 → XP_047296047.1 lysophosphatidylserine lipase ABHD12 isoform X6
XM_047440088.1 → XP_047296044.1 lysophosphatidylserine lipase ABHD12 isoform X3
XM_017027797.3 → XP_016883286.1 lysophosphatidylserine lipase ABHD12 isoform X8

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

25359833..25455939 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323333.1 → XP_054179308.1 lysophosphatidylserine lipase ABHD12 isoform X5
XM_054323329.1 → XP_054179304.1 lysophosphatidylserine lipase ABHD12 isoform X2
XM_054323335.1 → XP_054179310.1 lysophosphatidylserine lipase ABHD12 isoform X7

UniProtKB/TrEMBL

A0A5F9ZH71
XM_054323332.1 → XP_054179307.1 lysophosphatidylserine lipase ABHD12 isoform X4
XM_054323328.1 → XP_054179303.1 lysophosphatidylserine lipase ABHD12 isoform X10
XM_054323331.1 → XP_054179306.1 lysophosphatidylserine lipase ABHD12 isoform X11
XM_054323334.1 → XP_054179309.1 lysophosphatidylserine lipase ABHD12 isoform X12
XM_054323330.1 → XP_054179305.1 lysophosphatidylserine lipase ABHD12 isoform X11
XM_054323336.1 → XP_054179311.1 lysophosphatidylserine lipase ABHD12 isoform X8