Aliases for ABHD6 Gene

Aliases for ABHD6 Gene

  • Abhydrolase Domain Containing 6, Acylglycerol Lipase 2 3
  • Abhydrolase Domain Containing 6 2 3 5
  • Abhydrolase Domain-Containing Protein 6 3 4
  • 2-Arachidonoylglycerol Hydrolase 3 4
  • Monoacylglycerol Lipase ABHD6 3 4
  • EC 3.1.1.23 4 51
  • Lipase Protein 3
  • ABHD6 5

External Ids for ABHD6 Gene

Previous GeneCards Identifiers for ABHD6 Gene

  • GC03P058078
  • GC03P058180

Summaries for ABHD6 Gene

GeneCards Summary for ABHD6 Gene

ABHD6 (Abhydrolase Domain Containing 6, Acylglycerol Lipase) is a Protein Coding gene. Diseases associated with ABHD6 include Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract and Retinitis Pigmentosa. Among its related pathways are GABAergic synapse and RET signaling. Gene Ontology (GO) annotations related to this gene include acylglycerol lipase activity. An important paralog of this gene is SERHL2.

UniProtKB/Swiss-Prot Summary for ABHD6 Gene

  • Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015).

Tocris Summary for ABHD6 Gene

Additional gene information for ABHD6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD6 Gene

Genomics for ABHD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J058236 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 610.3 +0.5 499 3.2 GATAD2A PRDM10 ZNF629 REST ZNF692 BACH1 LARP7 ZNF143 RBFOX2 POLR2A ABHD6 PXK DENND6A RPP14 piR-61514-111 HTD2
GH03J058160 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 610.6 -72.9 -72867 8.1 HNRNPL GATAD2A CTCF TEAD4 REST LEF1 IKZF1 RCOR2 JUND DDX20 FLNB-AS1 ABHD6 DNASE1L3 FLNB DENND6A RPP14 LOC105377650 lnc-ABHD6-3
GH03J058248 Promoter/Enhancer 1.5 EPDnew ENCODE CraniofacialAtlas dbSUPER 606 +12.4 12395 2.2 GATAD2A RXRB CTCF SP1 CEBPA KMT2B SOX13 EZH2 FOXA2 ZSCAN5C ABHD6 RPP14 PXK piR-61514-111 HTD2
GH03J058235 Enhancer 0.4 Ensembl 605.6 -1.8 -1801 0.2 TAL1 TEAD4 CBFA2T2 CBFA2T3 ABHD6 LOC107986091 DNASE1L3
GH03J058172 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -61.8 -61760 5.7 HNRNPL GATAD2A CTCF PRDM10 REST TFE3 RFX1 SOX13 IKZF1 KDM1A LOC105377650 RPP14 DNASE1L3 FLNB FLNB-AS1 DENND6A HTD2 ABHD6 APPL1 PXK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD6

Top Transcription factor binding sites by QIAGEN in the ABHD6 gene promoter:
  • AML1a
  • AP-1
  • Bach2
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • HNF-4alpha2
  • JunB
  • JunD

Genomic Locations for ABHD6 Gene

Genomic Locations for ABHD6 Gene
chr3:58,237,502-58,295,693
(GRCh38/hg38)
Size:
58,192 bases
Orientation:
Plus strand
chr3:58,223,233-58,281,420
(GRCh37/hg19)
Size:
58,188 bases
Orientation:
Plus strand

Genomic View for ABHD6 Gene

Genes around ABHD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD6 Gene

Proteins for ABHD6 Gene

  • Protein details for ABHD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV23-ABHD6_HUMAN
    Recommended name:
    Monoacylglycerol lipase ABHD6
    Protein Accession:
    Q9BV23
    Secondary Accessions:
    • B2R7Y9
    • Q6ZMF7

    Protein attributes for ABHD6 Gene

    Size:
    337 amino acids
    Molecular mass:
    38331 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD6 Gene

Selected DME Specific Peptides for ABHD6 Gene

Q9BV23:
  • LENCGHSVVMERPRK
  • VKFLPKNLHLVCVDMPGHEGT
  • IYYWYWRR
  • LQGLVDVRIPHN
  • LVCPAGLQYSTDN
  • GQVKRIHQFVE
  • PTQIIWGKQDQVLDVSGA

Post-translational modifications for ABHD6 Gene

  • Ubiquitination at Lys223
  • Modification sites at PhosphoSitePlus

Domains & Families for ABHD6 Gene

Gene Families for ABHD6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ABHD6 Gene

InterPro:
Blocks:
  • Alpha/beta hydrolase fold
  • Alpha/beta hydrolase fold signature
  • Epoxide hydrolase signature
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD6 Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein 6 (ABHD6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BV23

UniProtKB/Swiss-Prot:

ABHD6_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD6: view

Function for ABHD6 Gene

Molecular function for ABHD6 Gene

UniProtKB/Swiss-Prot Function:
Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolyzes glycerol monoesters of long-chain fatty acids.; EC=3.1.1.23; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octanoylglycerol + H2O = glycerol + H(+) + octanoate; Xref=Rhea:RHEA:44328, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:25646, ChEBI:CHEBI:85241; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-decanoylglycerol + H2O = decanoate + glycerol + H(+); Xref=Rhea:RHEA:44320, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:27689, ChEBI:CHEBI:75547; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-dodecanoylglycerol + H2O = dodecanoate + glycerol + H(+); Xref=Rhea:RHEA:44316, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:18262, ChEBI:CHEBI:75539; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-tetradecanoylglycerol + H2O = glycerol + H(+) + tetradecanoate; Xref=Rhea:RHEA:44312, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30807, ChEBI:CHEBI:75562; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39963, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:75455; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38487, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:75342; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)-octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:44732, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75457; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:26132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:52392; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:44728, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:75612; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)-octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:48428, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75568; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S,S)-3-(9Z-octadecenoyl)-sn-glycero-1-phospho-(3'-(9Z-octadecenoyl)-1'-sn-glycerol) + H2O = (9Z)-octadecenoate + (S,S)-3-(9Z-octadecenoyl)-sn-glycero-1-phospho-(1'-sn-glycerol) + H(+); Xref=Rhea:RHEA:55712, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:139150, ChEBI:CHEBI:139152; Evidence={ECO:0000269|PubMed:26491015};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S,S)-2-(9Z-octadecenoyl)-sn-glycero-1-phospho-(2'-(9Z-octadecenoyl)-1'-sn-glycerol) + H2O = (9Z)-octadecenoate + (S,S)-2-(9Z-octadecenoyl)-sn-glycero-1-phospho-(1'-sn-glycerol) + H(+); Xref=Rhea:RHEA:55716, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:139156, ChEBI:CHEBI:139157; Evidence={ECO:0000250|UniProtKB:Q8R2Y0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R,R)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(2'-(9Z-octadecenoyl)-3'-sn-glycerol) + H2O = (9Z)-octadecenoate + (R,R)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(3'-sn-glycerol) + H(+); Xref=Rhea:RHEA:55804, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:139228, ChEBI:CHEBI:139230; Evidence={ECO:0000250|UniProtKB:Q8R2Y0};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=159 uM for 2-arachidonoyglycerol {ECO:0000269|PubMed:22969151}; Vmax=45 nmol/min/mg enzyme toward 2-arachidonoyglycerol {ECO:0000269|PubMed:22969151}; pH dependence: Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate. {ECO:0000269|PubMed:22969151};

Enzyme Numbers (IUBMB) for ABHD6 Gene

Phenotypes From GWAS Catalog for ABHD6 Gene

Gene Ontology (GO) - Molecular Function for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004620 phospholipase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0047372 acylglycerol lipase activity IBA,IDA 22969151
genes like me logo Genes that share ontologies with ABHD6: view
genes like me logo Genes that share phenotypes with ABHD6: view

Animal Models for ABHD6 Gene

MGI Knock Outs for ABHD6:
  • Abhd6 Abhd6<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD6

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD6 Gene

Localization for ABHD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD6 Gene

Late endosome membrane. Single-pass type II membrane protein. Lysosome membrane. Single-pass type II membrane protein. Mitochondrion membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD6 gene
Compartment Confidence
plasma membrane 4
mitochondrion 4
endosome 4
lysosome 4
extracellular 3
peroxisome 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane ISS --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ABHD6: view

Pathways & Interactions for ABHD6 Gene

genes like me logo Genes that share pathways with ABHD6: view

Pathways by source for ABHD6 Gene

Gene Ontology (GO) - Biological Process for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0009395 phospholipid catabolic process IEA --
GO:0030336 negative regulation of cell migration IEA --
GO:0046464 acylglycerol catabolic process IBA,IDA 22969151
GO:0046889 positive regulation of lipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with ABHD6: view

No data available for SIGNOR curated interactions for ABHD6 Gene

Drugs & Compounds for ABHD6 Gene

(5) Drugs for ABHD6 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma 197
Water Approved Pharma 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0
Flurofamide Pharma Urease inhibitor 0
SCH 51344 Pharma MTH1 inhibitor, Potent MTH1 inhibitor 0

(3) Tocris Compounds for ABHD6 Gene

Compound Action Cas Number
Flurofamide Urease inhibitor 70788-28-2
SCH 51344 Potent MTH1 inhibitor 171927-40-5
WWL 70 Potent ABHD6 inhibitor 947669-91-2

(1) ApexBio Compounds for ABHD6 Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with ABHD6: view

Drug Products

Transcripts for ABHD6 Gene

mRNA/cDNA for ABHD6 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD6

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for ABHD6 Gene

GeneLoc Exon Structure for
ABHD6

Expression for ABHD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD6 Gene

Protein differential expression in normal tissues from HIPED for ABHD6 Gene

This gene is overexpressed in Nasal epithelium (44.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD6

SOURCE GeneReport for Unigene cluster for ABHD6 Gene:

Hs.476454

Evidence on tissue expression from TISSUES for ABHD6 Gene

  • Nervous system(4.9)
  • Skin(4.4)
  • Lung(4.3)
  • Kidney(2.7)
  • Liver(2.5)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with ABHD6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD6 Gene

Orthologs for ABHD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABHD6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABHD6 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABHD6 30 31
  • 91.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABHD6 30 31
  • 90.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abhd6 30 17 31
  • 90.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd6 30
  • 88.33 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ABHD6 31
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABHD6 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABHD6 30 31
  • 74.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABHD6 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abhd6 30
  • 71.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia abhd6-prov 30
Zebrafish
(Danio rerio)
Actinopterygii abhd6a 30 31
  • 67.16 (n)
OneToMany
abhd6b 31
  • 64 (a)
OneToMany
Dr.13980 30
Species where no ortholog for ABHD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ABHD6 Gene

ENSEMBL:
Gene Tree for ABHD6 (if available)
TreeFam:
Gene Tree for ABHD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD6: view image

Paralogs for ABHD6 Gene

genes like me logo Genes that share paralogs with ABHD6: view

Variants for ABHD6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD6 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708984 Benign: not provided 58,274,820(+) C/T INTRON_VARIANT
rs11544004 - p.Ser148Cys
rs199678322 - p.Pro204Leu
rs199696239 - p.Thr206Pro
rs200333190 - p.Arg113His

Additional dbSNP identifiers (rs#s) for ABHD6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABHD6 Gene

Variant ID Type Subtype PubMed ID
esv2660248 CNV deletion 23128226
esv3561931 CNV deletion 23714750
esv3596242 CNV loss 21293372
esv3596243 CNV loss 21293372
nsv1001814 CNV gain 25217958
nsv528147 CNV gain 19592680
nsv590369 CNV loss 21841781
nsv834703 CNV gain 17160897

Variation tolerance for ABHD6 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD6 Gene

Human Gene Mutation Database (HGMD)
ABHD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD6 Gene

Disorders for ABHD6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABHD6 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ABHD6 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ABHD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD6 Gene

Publications for ABHD6 Gene

  1. α/β Hydrolase Domain-containing 6 (ABHD6) Degrades the Late Endosomal/Lysosomal Lipid Bis(monoacylglycero)phosphate. (PMID: 26491015) Pribasnig MA … Zimmermann R (The Journal of biological chemistry 2015) 2 3 4
  2. Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D … Laitinen JT (Journal of lipid research 2012) 2 3 4
  3. Optimization of 1,2,5-thiadiazole carbamates as potent and selective ABHD6 inhibitors. (PMID: 25504894) Patel JZ … Parkkari T (ChemMedChem 2015) 2 3
  4. The serine hydrolase ABHD6 Is a critical regulator of the metabolic syndrome. (PMID: 24095738) Thomas G … Brown JM (Cell reports 2013) 2 3
  5. An unannotated alpha/beta hydrolase superfamily member, ABHD6 differentially expressed among cancer cell lines. (PMID: 18360779) Li F … Ji C (Molecular biology reports 2009) 3 23

Products for ABHD6 Gene

  • Boster Bio Antibodies for ABHD6
  • Boster Bio ELISA Kits for ABHD6

Sources for ABHD6 Gene