Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABHD18 Gene

Aliases for ABHD18 Gene

  • Abhydrolase Domain Containing 18 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 18 3 4
  • Abhydrolase Domain-Containing Protein 18 3 4
  • C4orf29 3 4
  • Chromosome 4 Open Reading Frame 29 2
  • Protein ABHD18 3

External Ids for ABHD18 Gene

Previous HGNC Symbols for ABHD18 Gene

  • C4orf29

Summaries for ABHD18 Gene

GeneCards Summary for ABHD18 Gene

ABHD18 (Abhydrolase Domain Containing 18) is a Protein Coding gene.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD18 Gene

Genomics for ABHD18 Gene

Regulatory Elements for ABHD18 Gene

Enhancers for ABHD18 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
GH04G128284 1.4 ENCODE dbSUPER 5.8 +322.3 322314 6.3 MLX CREB3L1 AGO1 ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 SP3 PGRMC2 ABHD18 FOSL1P1
GH04G127781 1.4 ENCODE dbSUPER 4.9 -182.0 -182043 4.3 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZHX2 JUNB SLC25A31 INTU HSPA4L ABHD18 ENSG00000282855
GH04G128297 0.9 ENCODE dbSUPER 6.2 +333.1 333075 2.2 CTCF ZNF654 PKNOX1 CEBPB MAX RAD21 YY1 JUND SMC3 HNF4G ABHD18 LOC100507487 GC04P128333
GH04G128059 1.1 ENCODE 4.8 +96.3 96261 3.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 HSPA4L INTU ABHD18 LARP1B RPL15P8
GH04G127879 1.1 ENCODE 4.2 -84.4 -84401 2.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 MFSD8 HSPA4L ABHD18 PLK4 ENSG00000261668
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD18 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABHD18 Gene

Chromosome:
4
Start:
127,965,261 bp from pter
End:
128,039,711 bp from pter
Size:
74,451 bases
Orientation:
Plus strand

Genomic View for ABHD18 Gene

Genes around ABHD18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD18 Gene

Proteins for ABHD18 Gene

  • Protein details for ABHD18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0P651-ABD18_HUMAN
    Recommended name:
    Protein ABHD18
    Protein Accession:
    Q0P651
    Secondary Accessions:
    • A1A4W8
    • A1A4W9
    • Q9H7A7

    Protein attributes for ABHD18 Gene

    Size:
    414 amino acids
    Molecular mass:
    46954 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD18 Gene

Post-translational modifications for ABHD18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABHD18 Gene

Domains & Families for ABHD18 Gene

Protein Domains for ABHD18 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q0P651

UniProtKB/Swiss-Prot:

ABD18_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD18: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ABHD18 Gene

Function for ABHD18 Gene

Phenotypes for ABHD18 Gene

genes like me logo Genes that share phenotypes with ABHD18: view

Animal Model Products

CRISPR Products

miRNA for ABHD18 Gene

miRTarBase miRNAs that target ABHD18

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD18 Gene

Localization for ABHD18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD18 Gene

Secreted.

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 ABHD18 gene
Compartment Confidence
extracellular 3
nucleus 3
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ABHD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ABHD18: view

Pathways & Interactions for ABHD18 Gene

SuperPathways for ABHD18 Gene

No Data Available

Interacting Proteins for ABHD18 Gene

Gene Ontology (GO) - Biological Process for ABHD18 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ABHD18 Gene

Drugs & Compounds for ABHD18 Gene

No Compound Related Data Available

Transcripts for ABHD18 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD18 Gene

No ASD Table

Relevant External Links for ABHD18 Gene

GeneLoc Exon Structure for
ABHD18
ECgene alternative splicing isoforms for
ABHD18

Expression for ABHD18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ABHD18 Gene:

ABHD18
genes like me logo Genes that share expression patterns with ABHD18: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD18 Gene

Orthologs for ABHD18 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf29 34
  • 99.68 (n)
C4orf29 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19H4orf29 34
  • 93.24 (n)
C4orf29 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 3110057O12Rik 34 35
  • 88.81 (n)
Abhd18 16
rat
(Rattus norvegicus)
Mammalia LOC499602 34
  • 88.33 (n)
cow
(Bos Taurus)
Mammalia MGC165715 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4orf29 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf29 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF29 34 35
  • 75.65 (n)
lizard
(Anolis carolinensis)
Reptilia C4orf29 35
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68853 34
zebrafish
(Danio rerio)
Actinopterygii zgc:110741 34
  • 65.07 (n)
C14H4orf29 35
  • 62 (a)
OneToOne
wufk51f04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9375 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003371 34
  • 57.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32112 34 35
  • 53.28 (n)
worm
(Caenorhabditis elegans)
Secernentea C54G4.7 34 35
  • 48.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G12150 34
  • 44.48 (n)
rice
(Oryza sativa)
Liliopsida Os02g0195000 34
  • 44.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for ABHD18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABHD18 Gene

ENSEMBL:
Gene Tree for ABHD18 (if available)
TreeFam:
Gene Tree for ABHD18 (if available)

Paralogs for ABHD18 Gene

No data available for Paralogs for ABHD18 Gene

Variants for ABHD18 Gene

Sequence variations from dbSNP and Humsavar for ABHD18 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs796052740 Likely pathogenic 127,965,130(-) CTATG(G/T)CCGGC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs74561222 Likely benign 127,965,921(+) CAGGA(C/G)TGAAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs796052737 Likely benign 127,965,191(-) CGGGA(A/T)GGGAG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs150892838 Uncertain significance 127,965,097(+) TAAGA(A/C/G/T)CGGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs200352565 Uncertain significance 127,965,154(+) AAGGC(A/C/G)TCTTG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ABHD18 Gene

Variant ID Type Subtype PubMed ID
dgv5385n100 CNV gain 25217958
esv3894027 CNV loss 25118596
nsv1019193 CNV loss 25217958
nsv1114567 CNV deletion 24896259
nsv595388 CNV gain 21841781

Variation tolerance for ABHD18 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.12; 75.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD18 Gene

Disorders for ABHD18 Gene

Relevant External Links for ABHD18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD18

No disorders were found for ABHD18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD18 Gene

Publications for ABHD18 Gene

  1. 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
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64
  4. 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) 4 64

Products for ABHD18 Gene

Sources for ABHD18 Gene

Content
Loading form....