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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. Diseases associated with ABHD18 include Neuronal Ceroid Lipofuscinosis.

Additional gene information for ABHD18 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

GeneHancer (GH) Regulatory Elements for ABHD18 Gene

Promoters and enhancers for ABHD18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J127963 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 0.0 -17 2.9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 IRF4 YY1 ABHD18 MFSD8 PGRMC2 RNU6-583P
GH04J128551 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 10.7 +588.2 588179 3 PKNOX1 SMAD1 FOXA2 ARNT SIN3A FEZF1 ZNF2 IRF4 YY1 POLR2B LOC101927259 MFSD8 PGRMC2 RPL21P53 ABHD18 INTU JADE1 C4orf33 GC04P128333
GH04J128284 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.8 +322.3 322314 6.3 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC PGRMC2 MFSD8 ABHD18 FOSL1P1
GH04J128467 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.7 +503.3 503276 1.5 HDAC1 MEIS2 IRF2 PKNOX1 USF1 BACH1 CEBPG ZNF766 ZNF316 POLR2A MFSD8 JADE1 PGRMC2 ABHD18 LOC100507487 LOC101927259 GC04P128333
GH04J127781 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 4.9 -182.0 -182043 4.3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZHX2 HSPA4L SLC25A31 INTU ABHD18 ENSG00000282855
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD18 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABHD18 Gene

Genomic Locations for ABHD18 Gene
chr4:127,965,261-128,039,927
(GRCh38/hg38)
Size:
74,667 bases
Orientation:
Plus strand
chr4:128,886,461-128,960,866
(GRCh37/hg19)
Size:
74,406 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

Gene Families for ABHD18 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 Suggested Antigen Peptide Sequences for ABHD18 Gene

Function for ABHD18 Gene

Phenotypes From GWAS Catalog for ABHD18 Gene

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

Animal Model Products

miRNA for ABHD18 Gene

miRTarBase miRNAs that target ABHD18

Clone 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

Subcellular locations from the

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

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

Clone 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

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 33
  • 99.68 (n)
C4orf29 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19H4orf29 33
  • 93.24 (n)
C4orf29 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 3110057O12Rik 34 33
  • 88.81 (n)
OneToOne
Abhd18 16
rat
(Rattus norvegicus)
Mammalia LOC499602 33
  • 88.33 (n)
cow
(Bos Taurus)
Mammalia MGC165715 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4orf29 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf29 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF29 34 33
  • 75.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf29 34
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68853 33
zebrafish
(Danio rerio)
Actinopterygii zgc:110741 33
  • 65.07 (n)
C14H4orf29 34
  • 62 (a)
OneToOne
wufk51f04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9375 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003371 33
  • 57.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32112 34 33
  • 53.28 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C54G4.7 34 33
  • 48.26 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G12150 33
  • 44.48 (n)
rice
(Oryza sativa)
Liliopsida Os02g0195000 33
  • 44.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD18: view image

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 Variation AA Info Type
rs150892838 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 127,965,097(+) G/A/C/T upstream_transcript_variant
rs74561222 likely-benign, Neuronal Ceroid-Lipofuscinosis, Recessive 127,965,921(+) C/G genic_upstream_transcript_variant, intron_variant
rs1057522504 likely-benign, not specified 127,965,201(+) G/A upstream_transcript_variant
rs779186294 likely-benign, not specified 127,965,151(+) G/A/T upstream_transcript_variant
rs796052737 likely-benign, not specified 127,965,191(+) A/G/T upstream_transcript_variant

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for ABHD18 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • batten disease
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ABHD18: view

No data available for 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 RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  5. 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) 4 58

Products for ABHD18 Gene

Sources for ABHD18 Gene

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