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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 3 4
  • Abhydrolase Domain-Containing Protein 8 3 4
  • Protein ABHD8 3
  • 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. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

Additional gene information for ABHD8 Gene

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

GeneHancer (GH) Regulatory Elements for ABHD8 Gene

Promoters and enhancers for ABHD8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017307 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 671.2 -0.5 -492 5.6 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 YY1 ABHD8 DDA1 CHERP MRPL34 C19orf44 ENSG00000268743 ENSG00000267904 SIN3B ENSG00000269578 GTPBP3
GH19J017302 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 671.2 +5.7 5729 5 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MRPL34 ABHD8 CHERP HAUS8 C19orf44 ENSG00000268743 IQCN MED26 ENSG00000269578 COLGALT1
GH19J017336 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.9 -27.1 -27120 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTPBP3 ANO8 CHERP ENSG00000269578 IQCN ENSG00000268743 COLGALT1 C19orf44 HAUS8 SIN3B
GH19J017333 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.4 -24.0 -24025 2.4 FEZF1 IRF4 YY1 ZNF213 ZNF416 ZNF143 SP3 NFYC MEF2D ZNF610 GTPBP3 ANO8 CHERP IQCN SIN3B ENSG00000269578 ENSG00000268743 ENSG00000267904 C19orf44 ENSG00000268087
GH19J017340 Enhancer 1.3 Ensembl ENCODE dbSUPER 20.6 -30.6 -30623 1.6 ARID4B ZNF48 SLC30A9 ATF7 SP3 RXRA MXD4 KAT8 NFIL3 KDM1A ABHD8 MRPL34 PLVAP MVB12A BST2 NXNL1 ANKLE1 CHERP GTPBP3 ENSG00000269350
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD8 gene promoter:

Genomic Locations for ABHD8 Gene

Genomic Locations for ABHD8 Gene
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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog 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:
  • Abhd8 Abhd8<tm1b(EUCOMM)Wtsi>

Animal Model Products

miRNA for ABHD8 Gene

miRTarBase miRNAs that target ABHD8

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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ABHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome HDA 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

(96) Selected AceView cDNA sequences:
(10) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABHD8 Gene

Abhydrolase domain containing 8:
Representative Sequences:

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

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 33
  • 99.47 (n)
(Bos Taurus)
Mammalia ABHD8 34 33
  • 89.23 (n)
(Canis familiaris)
Mammalia ABHD8 34 33
  • 87.86 (n)
(Mus musculus)
Mammalia Abhd8 16 34 33
  • 82.11 (n)
(Rattus norvegicus)
Mammalia Abhd8 33
  • 81.78 (n)
(Ornithorhynchus anatinus)
Mammalia ABHD8 34
  • 79 (a)
(Monodelphis domestica)
Mammalia ABHD8 34
  • 78 (a)
(Gallus gallus)
Aves ABHD8 34 33
  • 76.4 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd8 33
  • 67.07 (n)
Str.5563 33
(Danio rerio)
Actinopterygii abhd8a 34 33
  • 67.63 (n)
BX255969.1 34
  • 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)
Evolutionary constrained regions (ECRs) for ABHD8: view image

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 Variation AA Info Type
rs1000101771 -- 17,303,356(-) C/T 5_prime_UTR_variant
rs1000392743 -- 17,291,692(-) T/C downstream_transcript_variant
rs1000605234 -- 17,297,394(-) C/T intron_variant
rs1001048620 -- 17,301,212(-) G/A/C/T coding_sequence_variant, missense_variant, synonymous_variant
rs1001053746 -- 17,292,194(-) C/T 3_prime_UTR_variant

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)

Additional Variant Information for ABHD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABHD8 Gene

Additional Disease Information for ABHD8

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. 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. 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 AC … Couch FJ (Nature genetics 2010) 3 58

Products for ABHD8 Gene

Sources for ABHD8 Gene

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