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Aliases for ABHD8 Gene

Aliases for ABHD8 Gene

  • Abhydrolase Domain Containing 8 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 8 4
  • Abhydrolase Domain-Containing Protein 8 4
  • EC 3.-.-.- 4

External Ids for ABHD8 Gene

Previous GeneCards Identifiers for ABHD8 Gene

  • GC19M017402
  • GC19M016969

Summaries for ABHD8 Gene

Entrez Gene Summary for ABHD8 Gene

  • This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABHD8 Gene

ABHD8 (Abhydrolase Domain Containing 8) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD8 Gene

Genomics for ABHD8 Gene

Regulatory Elements for ABHD8 Gene

Enhancers for ABHD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G017307 1.4 Ensembl ENCODE 21.2 -0.5 -492 5.6 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MRPL34 ABHD8 ENSG00000269578 ENSG00000269427 OCEL1 MVB12A ENSG00000268087 ENSG00000267904 ENSG00000269815 SMIM7
GH19G017336 1.4 ENCODE dbSUPER 20.9 -27.1 -27120 2.5 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC ENSG00000269578 MVB12A ENSG00000268743 C19orf44 MRPL34 PLVAP COLGALT1 ENSG00000268087 ABHD8 ENSG00000267904
GH19G017340 1.4 Ensembl ENCODE dbSUPER 20.6 -30.6 -30623 1.6 ARID4B ZNF48 SLC30A9 ZNF121 SP3 MXD4 KAT8 SMARCA4 HNF4A KDM1A ABHD8 MRPL34 PLVAP MVB12A BST2 NXNL1 ANKLE1 CHERP GTPBP3 ENSG00000269350
GH19G017302 1.2 ENCODE 21.2 +5.7 5730 5.0 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D MRPL34 ABHD8 SIN3B ENSG00000268743 ENSG00000269427 MVB12A PLVAP ENSG00000269439 ENSG00000269044 ENSG00000269815
GH19G017346 1.5 Ensembl ENCODE dbSUPER 16.9 -37.7 -37665 3.4 PKNOX1 ARNT FEZF1 ZNF2 ZNF48 ZNF121 GLIS2 GATA2 ZNF143 FOS ABHD8 MRPL34 ANKLE1 ENSG00000269350 GTPBP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD8 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107876 535 1400 CREB3L1 MLX AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for ABHD8 Gene

17,292,131 bp from pter
17,310,236 bp from pter
18,106 bases
Minus strand

Genomic View for ABHD8 Gene

Genes around ABHD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD8 Gene

Proteins for ABHD8 Gene

  • Protein details for ABHD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein ABHD8
    Protein Accession:
    Secondary Accessions:
    • Q9HAE9

    Protein attributes for ABHD8 Gene

    439 amino acids
    Molecular mass:
    47331 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD8 Gene

Post-translational modifications for ABHD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABHD8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABHD8 Gene

Domains & Families for ABHD8 Gene

Gene Families for ABHD8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AB hydrolase superfamily.
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD8: view

Function for ABHD8 Gene

Enzyme Numbers (IUBMB) for ABHD8 Gene

Gene Ontology (GO) - Molecular Function for ABHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD8: view
genes like me logo Genes that share phenotypes with ABHD8: view

Animal Models for ABHD8 Gene

MGI Knock Outs for ABHD8:

Animal Model Products

CRISPR Products

miRNA for ABHD8 Gene

miRTarBase miRNAs that target ABHD8

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABHD8 Gene

Localization for ABHD8 Gene

Subcellular locations from

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 ABHD8 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ABHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with ABHD8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD8 Gene

Pathways & Interactions for ABHD8 Gene

SuperPathways for ABHD8 Gene

No Data Available

Interacting Proteins for ABHD8 Gene

Gene Ontology (GO) - Biological Process for ABHD8 Gene


No data available for Pathways by source and SIGNOR curated interactions for ABHD8 Gene

Drugs & Compounds for ABHD8 Gene

No Compound Related Data Available

Transcripts for ABHD8 Gene

mRNA/cDNA for ABHD8 Gene

Unigene Clusters for ABHD8 Gene

Abhydrolase domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD8 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP3: -

Relevant External Links for ABHD8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABHD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD8 Gene

mRNA differential expression in normal tissues according to GTEx for ABHD8 Gene

This gene is overexpressed in Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for ABHD8 Gene

This gene is overexpressed in Breast (50.8), Neutrophil (9.4), and Pancreatic juice (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABHD8 Gene

Protein tissue co-expression partners for ABHD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABHD8 Gene:


SOURCE GeneReport for Unigene cluster for ABHD8 Gene:


Evidence on tissue expression from TISSUES for ABHD8 Gene

  • Nervous system(4.8)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with ABHD8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD8 Gene

Orthologs for ABHD8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABHD8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABHD8 34 35
  • 99.47 (n)
(Bos Taurus)
Mammalia ABHD8 34 35
  • 89.23 (n)
(Canis familiaris)
Mammalia ABHD8 34 35
  • 87.86 (n)
(Mus musculus)
Mammalia Abhd8 34 16 35
  • 82.11 (n)
(Rattus norvegicus)
Mammalia Abhd8 34
  • 81.78 (n)
(Ornithorhynchus anatinus)
Mammalia ABHD8 35
  • 79 (a)
(Monodelphis domestica)
Mammalia ABHD8 35
  • 78 (a)
(Gallus gallus)
Aves ABHD8 34 35
  • 76.4 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd8 34
  • 67.07 (n)
Str.5563 34
(Danio rerio)
Actinopterygii abhd8a 34 35
  • 67.63 (n)
BX255969.1 35
  • 57 (a)
Species where no ortholog for ABHD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (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 ABHD8 Gene

Gene Tree for ABHD8 (if available)
Gene Tree for ABHD8 (if available)

Paralogs for ABHD8 Gene

No data available for Paralogs for ABHD8 Gene

Variants for ABHD8 Gene

Sequence variations from dbSNP and Humsavar for ABHD8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000101771 -- 17,303,356(+) GTCTA(C/T)GCGGG intron-variant, utr-variant-5-prime
rs1000392743 -- 17,291,692(+) GATGG(C/T)CTCGA downstream-variant-500B
rs1000605234 -- 17,297,394(+) GGGTT(C/T)GAATG intron-variant
rs1001048620 -- 17,301,212(+) CCTGC(C/G)CTGCC upstream-variant-2KB, reference, missense
rs1001053746 -- 17,292,194(+) CAGCC(C/T)CCCCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ABHD8 Gene

Variant ID Type Subtype PubMed ID
esv1009781 CNV deletion 20482838
nsv470129 CNV loss 18288195
nsv515965 CNV loss 19592680

Variation tolerance for ABHD8 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.73; 73.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD8 Gene

Disorders for ABHD8 Gene

Relevant External Links for ABHD8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for ABHD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD8 Gene

Publications for ABHD8 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. (PMID: 20852631) Antoniou A.C. … Couch F.J. (Nat. Genet. 2010) 3 64
  5. Proteomic analysis of exosomes from human neural stem cells by flow field-flow fractionation and nanoflow liquid chromatography-tandem mass spectrometry. (PMID: 18570454) Kang D. … Moon M.H. (J. Proteome Res. 2008) 3 64

Products for ABHD8 Gene

Sources for ABHD8 Gene

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