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
  • Protein ABHD18 3 4
  • C4orf29 3 4
  • Chromosome 4 Open Reading Frame 29 2
  • FLJ21106 2
  • ABHD18 5

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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD18 Gene

Genomics for ABHD18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD18 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD18

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

  • Glycosylation at Asn282 and Asn307
  • Ubiquitination at Lys253
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD18 Gene

Domains & Families for ABHD18 Gene

Gene Families for ABHD18 Gene

HGNC:
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

CRISPR Products

miRNA for ABHD18 Gene

miRTarBase miRNAs that target ABHD18

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD18

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 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

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

PathCards logo

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

mRNA/cDNA for ABHD18 Gene

19 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD18

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

No ASD Table

Relevant External Links for ABHD18 Gene

GeneLoc Exon Structure for
ABHD18

Expression for ABHD18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.68 (n)
C4orf29 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C19H4orf29 30
  • 93.24 (n)
C4orf29 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 3110057O12Rik 30 31
  • 88.81 (n)
OneToOne
Abhd18 17
Rat
(Rattus norvegicus)
Mammalia LOC499602 30
  • 88.33 (n)
Cow
(Bos Taurus)
Mammalia MGC165715 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C4orf29 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C4orf29 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C4H4ORF29 30 31
  • 75.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C4orf29 31
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68853 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:110741 30
  • 65.07 (n)
C14H4orf29 31
  • 62 (a)
OneToOne
wufk51f04 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9375 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003371 30
  • 57.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG32112 30 31
  • 53.28 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C54G4.7 30 31
  • 48.26 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G12150 30
  • 44.48 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0195000 30
  • 44.78 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for ABHD18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD18 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
671191 Benign: not provided 127,965,541(+) G/C FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs1313783124 Likely Benign: not specified 127,965,897(+) C/T FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs74561222 Benign: Neuronal ceroid lipofuscinosis 7 127,965,921(+) C/G FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ABHD18 Gene

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
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  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

Products for ABHD18 Gene

  • Signalway Proteins for ABHD18

Sources for ABHD18 Gene