Aliases for ABHD4 Gene

Aliases for ABHD4 Gene

  • Abhydrolase Domain Containing 4, N-Acyl Phospholipase B 2 3
  • Abhydrolase Domain Containing 4 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 4 3 4
  • (Lyso)-N-Acylphosphatidylethanolamine Lipase 3 4
  • Abhydrolase Domain-Containing Protein 4 3 4
  • Alpha/Beta-Hydrolase 4 3 4
  • Lyso-N-Acylphosphatidylethanolamine Lipase 3
  • Protein ABHD4 3
  • EC 3.1.1.- 4
  • FLJ12816 2
  • ABHD4 5
  • ABH4 3

External Ids for ABHD4 Gene

Previous GeneCards Identifiers for ABHD4 Gene

  • GC14P016854
  • GC14P021057
  • GC14P022136
  • GC14P023067
  • GC14P003185
  • GC14P022602
  • GC14P022684
  • GC14P024482
  • GC14P024598
  • GC14P024723
  • GC14P025004
  • GC14P022779
  • GC14P022868
  • GC14P023826
  • GC14P023919
  • GC14P024027
  • GC14P024144
  • GC14P024254
  • GC14P024367

Summaries for ABHD4 Gene

GeneCards Summary for ABHD4 Gene

ABHD4 (Abhydrolase Domain Containing 4, N-Acyl Phospholipase B) is a Protein Coding gene. Diseases associated with ABHD4 include Chanarin-Dorfman Syndrome. Among its related pathways are Acyl chain remodelling of PE and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and 1-alkyl-2-acetylglycerophosphocholine esterase activity. An important paralog of this gene is ABHD5.

UniProtKB/Swiss-Prot Summary for ABHD4 Gene

  • Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine.

Additional gene information for ABHD4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD4 Gene

Genomics for ABHD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD4

Top Transcription factor binding sites by QIAGEN in the ABHD4 gene promoter:
  • Chx10
  • CREB
  • deltaCREB
  • p53
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU3F2
  • Sp1
  • TBP

Genomic Locations for ABHD4 Gene

Genomic Locations for ABHD4 Gene
chr14:22,598,237-22,613,215
(GRCh38/hg38)
Size:
14,979 bases
Orientation:
Plus strand
chr14:23,067,146-23,081,265
(GRCh37/hg19)
Size:
14,120 bases
Orientation:
Plus strand

Genomic View for ABHD4 Gene

Genes around ABHD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD4 Gene

Proteins for ABHD4 Gene

  • Protein details for ABHD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB40-ABHD4_HUMAN
    Recommended name:
    (Lyso)-N-acylphosphatidylethanolamine lipase
    Protein Accession:
    Q8TB40
    Secondary Accessions:
    • B4DDH7
    • Q9H9E0

    Protein attributes for ABHD4 Gene

    Size:
    342 amino acids
    Molecular mass:
    38794 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD4 Gene

Post-translational modifications for ABHD4 Gene

  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD4 Gene

Domains & Families for ABHD4 Gene

Gene Families for ABHD4 Gene

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

Protein Domains for ABHD4 Gene

InterPro:
Blocks:
  • Alpha/beta hydrolase fold
  • Prolyl aminopeptidase (S33) family signature
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD4 Gene

GenScript: Design optimal peptide antigens:
  • Lyso-N-acylphosphatidylethanolamine lipase (ABHD4_HUMAN)
  • cDNA FLJ59834, highly similar to Abhydrolase domain-containing protein 4 (EC 3.1.1.-) (B4DDH7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TB40

UniProtKB/Swiss-Prot:

ABHD4_HUMAN :
  • Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
Family:
  • Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
genes like me logo Genes that share domains with ABHD4: view

Function for ABHD4 Gene

Molecular function for ABHD4 Gene

UniProtKB/Swiss-Prot Function:
Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-hexadecanoyl-1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = (9Z)-octadecenoate + H(+) + N-hexadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45424, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:78097, ChEBI:CHEBI:85217; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acyl-1,2-diacyl-sn-glycero-3-phosphoethanolamine = a fatty acid + H(+) + N,1-diacyl-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45460, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:62537, ChEBI:CHEBI:85216; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-hexadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = (9Z)-octadecenoate + H(+) + N-hexadecanoyl-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45384, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:85217, ChEBI:CHEBI:85226; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-octadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = (9Z)-octadecenoate + H(+) + N-octadecanoyl-sn-glycero-3-phospho-ethanolamine; Xref=Rhea:RHEA:45388, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:85219, ChEBI:CHEBI:85227; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-eicosanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = (9Z)-octadecenoate + H(+) + N-eicosanoyl-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45392, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:85221, ChEBI:CHEBI:85228; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N,1-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = (9Z)-octadecenoate + H(+) + N-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45396, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:85222, ChEBI:CHEBI:85229; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = (9Z)-octadecenoate + H(+) + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45400, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:85223, ChEBI:CHEBI:85230; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(N-hexadecanoyl)-serine + H2O = (9Z)-octadecenoate + 1-octadecanoyl-2-hydroxy-sn-glycero-3-phospho-(N-hexadecanoyl)-serine + H(+); Xref=Rhea:RHEA:55236, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:138661, ChEBI:CHEBI:138662; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-(1Z-octadecenoyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(N-hexadecanoyl)-ethanolamine + H2O = (9Z)-octadecenoate + 1-O-(1Z-octadecenyl)-sn-glycero-3-phospho-(N-hexadecanoyl)-ethanolamine + H(+); Xref=Rhea:RHEA:55240, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:137009, ChEBI:CHEBI:138663; Evidence={ECO:0000250|UniProtKB:Q8VD66};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N,1-diacyl-sn-glycero-3-phosphoethanolamine = a fatty acid + H(+) + N-acyl-sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:45420, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:85216, ChEBI:CHEBI:85225; Evidence={ECO:0000250|UniProtKB:Q8VD66};.

Enzyme Numbers (IUBMB) for ABHD4 Gene

Phenotypes From GWAS Catalog for ABHD4 Gene

Gene Ontology (GO) - Molecular Function for ABHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IBA 21873635
GO:0016787 hydrolase activity TAS --
GO:0042171 lysophosphatidic acid acyltransferase activity IBA 21873635
GO:0052689 carboxylic ester hydrolase activity IBA 21873635
genes like me logo Genes that share ontologies with ABHD4: view
genes like me logo Genes that share phenotypes with ABHD4: view

Animal Models for ABHD4 Gene

MGI Knock Outs for ABHD4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABHD4 Gene

Localization for ABHD4 Gene

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 ABHD4 gene
Compartment Confidence
endoplasmic reticulum 4
peroxisome 2
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IBA 21873635
genes like me logo Genes that share ontologies with ABHD4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD4 Gene

Pathways & Interactions for ABHD4 Gene

genes like me logo Genes that share pathways with ABHD4: view

Gene Ontology (GO) - Biological Process for ABHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process IBA 21873635
GO:0016042 lipid catabolic process IEA --
GO:0036152 phosphatidylethanolamine acyl-chain remodeling TAS --
GO:0055088 lipid homeostasis IBA 21873635
genes like me logo Genes that share ontologies with ABHD4: view

No data available for SIGNOR curated interactions for ABHD4 Gene

Drugs & Compounds for ABHD4 Gene

(2) Drugs for ABHD4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PE(16:0/16:0) Experimental Pharma 0
Anandamide Pharma Pore Blocker, Antagonist, Agonist, Partial agonist, Allosteric regulator, Potentiation, Full agonist, Inhibitor, Channel blocker, Activator 0

(4) Additional Compounds for ABHD4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PE(P-16:0e/16:0)
  • 1-(Hexadec-1-enyl)-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-hexadecanoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • PE(P-16:0/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1W7)
  • GPEtn(34:1)
Phosphatidylethanolamines Group A
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-icosatetraenoyl)-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-(1-Enyl-stearoyl)-2-arachidonoyl-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-Alkenyl-2-acyl-glycerophosphoethanolamine
103597-60-0, 998-07-2, 1069-79-0
Phosphatidylethanolamines Group B
  • Glycerophosphoethanolamine
  • Glycerophosphoethanolamine(P-16:0E/0:0)
  • PE(0:0)
  • GPEtn(0:0)
  • Phophatidylethanolamine(0:0)
genes like me logo Genes that share compounds with ABHD4: view

Transcripts for ABHD4 Gene

mRNA/cDNA for ABHD4 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 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 ABHD4

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5: -

Relevant External Links for ABHD4 Gene

GeneLoc Exon Structure for
ABHD4

Expression for ABHD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABHD4 Gene

This gene is overexpressed in Bone (42.2), Pancreatic juice (12.2), and Peripheral blood mononuclear cells (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD4

SOURCE GeneReport for Unigene cluster for ABHD4 Gene:

Hs.445665

Evidence on tissue expression from TISSUES for ABHD4 Gene

  • Adrenal gland(4.3)
  • Nervous system(3.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ABHD4: view

No data available for 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 ABHD4 Gene

Orthologs for ABHD4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABHD4 30 31
  • 99.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABHD4 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Abhd4 30 17 31
  • 90.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABHD4 30 31
  • 90.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABHD4 30 31
  • 90.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd4 30
  • 89.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABHD4 31
  • 86 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABHD4 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abhd4 30
  • 70.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15564 30
Zebrafish
(Danio rerio)
Actinopterygii abhd4 30 31
  • 62.71 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG1882 30 31
  • 56.12 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000784 30
  • 52.85 (n)
Worm
(Caenorhabditis elegans)
Secernentea C37H5.3 30 31
  • 51.02 (n)
ManyToMany
C37H5.2 31
  • 38 (a)
ManyToMany
lid-1 31
  • 38 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CLD1 31
  • 18 (a)
OneToMany
ICT1 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G24160 30
  • 45.22 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0520200 30
  • 47.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
Species where no ortholog for ABHD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ABHD4 Gene

ENSEMBL:
Gene Tree for ABHD4 (if available)
TreeFam:
Gene Tree for ABHD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD4: view image

Paralogs for ABHD4 Gene

(1) SIMAP similar genes for ABHD4 Gene using alignment to 7 proteins:

  • ABHD4_HUMAN
  • B4DDH7_HUMAN
  • F5GZC9_HUMAN
  • F5H067_HUMAN
  • F5H6T0_HUMAN
  • H0YFD5_HUMAN
  • J3KMW0_HUMAN
genes like me logo Genes that share paralogs with ABHD4: view

Variants for ABHD4 Gene

Additional dbSNP identifiers (rs#s) for ABHD4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABHD4 Gene

Variant ID Type Subtype PubMed ID
esv3633758 CNV loss 21293372
esv3892469 CNV gain+loss 25118596
nsv520576 CNV loss 19592680
nsv563998 CNV gain 21841781
nsv832746 CNV gain 17160897
nsv832748 CNV gain 17160897

Variation tolerance for ABHD4 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD4 Gene

Disorders for ABHD4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chanarin-dorfman syndrome
  • cds
- elite association - COSMIC cancer census association via MalaCards
Search ABHD4 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ABHD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD4 Gene

Publications for ABHD4 Gene

  1. ABHD4 regulates multiple classes of N-acyl phospholipids in the mammalian central nervous system. (PMID: 25853435) Lee HC … Cravatt BF (Biochemistry 2015) 2 3
  2. Endocannabinoid biosynthesis proceeding through glycerophospho-N-acyl ethanolamine and a role for alpha/beta-hydrolase 4 in this pathway. (PMID: 16818490) Simon GM … Cravatt BF (The Journal of biological chemistry 2006) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ABHD4 Gene