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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.

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

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
GH19H017307 1.4 Ensembl ENCODE 21.2 -0.5 -492 5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 CHERP MRPL34 ENSG00000267904 C19orf44 GTPBP3 HAUS8 ENSG00000269427 ENSG00000268743 ABHD8 KIAA1683
GH19H017336 1.4 ENCODE dbSUPER 20.9 -27.1 -27120 2 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZFP41 MEF2D ZNF610 CHERP ENSG00000269578 ENSG00000268743 KIAA1683 C19orf44 HAUS8 SIN3B MVB12A COLGALT1 ENSG00000268087
GH19H017340 1.4 Ensembl ENCODE dbSUPER 20.6 -30.6 -30623 1 ELF3 ARID4B KLF17 THRB RAD21 RARA SLC30A9 ATF7 MIXL1 THAP11 ABHD8 MRPL34 PLVAP MVB12A BST2 NXNL1 ANKLE1 CHERP GTPBP3 ENSG00000269350
GH19H017346 1.5 Ensembl ENCODE dbSUPER 16.9 -37.7 -37665 3 PKNOX1 ARNT ZNF2 ZNF121 GLIS2 ZNF143 ATF7 RUNX3 DEK REST ABHD8 CHERP C19orf44 MRPL34 ENSG00000268743 ENSG00000267904 ANKLE1 ENSG00000269350 GTPBP3
GH19H017302 1.1 ENCODE 21.2 +5.7 5730 4 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 MRPL34 CHERP C19orf44 ENSG00000268743 ABHD8 MED26 HAUS8 ENSG00000269427 KIAA1683 MVB12A
- 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 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 FOS

Genomic Location for ABHD8 Gene

Chromosome:
19
Start:
17,292,131 bp from pter
End:
17,310,236 bp from pter
Size:
18,106 bases
Orientation:
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:
    Q96I13-ABHD8_HUMAN
    Recommended name:
    Protein ABHD8
    Protein Accession:
    Q96I13
    Secondary Accessions:
    • Q9HAE9

    Protein attributes for ABHD8 Gene

    Size:
    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

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

Graphical View of Domain Structure for InterPro Entry

Q96I13

UniProtKB/Swiss-Prot:

ABHD8_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • 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:

Animal Model Products

CRISPR Products

miRNA for ABHD8 Gene

miRTarBase miRNAs that target ABHD8

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABHD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 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 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

None

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

  • Applied Biological Materials Clones for ABHD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3: -

Relevant External Links for ABHD8 Gene

GeneLoc Exon Structure for
ABHD8
ECgene alternative splicing isoforms for
ABHD8

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:

ABHD8

SOURCE GeneReport for Unigene cluster for ABHD8 Gene:

Hs.515664

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
chimpanzee
(Pan troglodytes)
Mammalia ABHD8 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia ABHD8 33 34
  • 89.23 (n)
dog
(Canis familiaris)
Mammalia ABHD8 33 34
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Abhd8 33 16 34
  • 82.11 (n)
rat
(Rattus norvegicus)
Mammalia Abhd8 33
  • 81.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD8 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABHD8 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD8 33 34
  • 76.4 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd8 33
  • 67.07 (n)
Str.5563 33
zebrafish
(Danio rerio)
Actinopterygii abhd8a 33 34
  • 67.63 (n)
BX255969.1 34
  • 57 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ABHD8 (if available)
TreeFam:
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
ABHD8

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:
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  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 60

Products for ABHD8 Gene

Sources for ABHD8 Gene

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