Aliases for ABHD16B Gene

Aliases for ABHD16B Gene

  • Abhydrolase Domain Containing 16B 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 16B 3 4
  • Abhydrolase Domain-Containing Protein 16B 3 4
  • Protein ABHD16B 3 4
  • DJ591C20.1 2 3
  • C20orf135 3 4
  • Chromosome 20 Open Reading Frame 135 2
  • EC 3.-.-.- 4
  • ABHD16B 5

External Ids for ABHD16B Gene

Previous HGNC Symbols for ABHD16B Gene

  • C20orf135

Previous GeneCards Identifiers for ABHD16B Gene

  • GC20P062493

Summaries for ABHD16B Gene

GeneCards Summary for ABHD16B Gene

ABHD16B (Abhydrolase Domain Containing 16B) is a Protein Coding gene. Diseases associated with ABHD16B include Chanarin-Dorfman Syndrome and Hypotonia-Cystinuria Syndrome. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD16A.

Additional gene information for ABHD16B 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 ABHD16B Gene

Genomics for ABHD16B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD16B 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 ABHD16B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD16B

Genomic Locations for ABHD16B Gene

Genomic Locations for ABHD16B Gene
chr20:63,861,498-63,862,988
(GRCh38/hg38)
Size:
1,491 bases
Orientation:
Plus strand
chr20:62,492,566-62,494,341
(GRCh37/hg19)
Size:
1,776 bases
Orientation:
Plus strand

Genomic View for ABHD16B Gene

Genes around ABHD16B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD16B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD16B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD16B Gene

Proteins for ABHD16B Gene

  • Protein details for ABHD16B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3Z7-ABHGB_HUMAN
    Recommended name:
    Protein ABHD16B
    Protein Accession:
    Q9H3Z7

    Protein attributes for ABHD16B Gene

    Size:
    469 amino acids
    Molecular mass:
    52555 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD16B Gene

Post-translational modifications for ABHD16B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABHD16B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABHD16B Gene

Domains & Families for ABHD16B Gene

Gene Families for ABHD16B Gene

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

Protein Domains for ABHD16B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD16B Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein 16B (ABHGB_HUMAN)
  • Chromosome 20 open reading frame 135 (Q96F95_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3Z7

UniProtKB/Swiss-Prot:

ABHGB_HUMAN :
  • Belongs to the AB hydrolase superfamily. ABHD16 family.
Family:
  • Belongs to the AB hydrolase superfamily. ABHD16 family.
genes like me logo Genes that share domains with ABHD16B: view

Function for ABHD16B Gene

Enzyme Numbers (IUBMB) for ABHD16B Gene

Phenotypes From GWAS Catalog for ABHD16B Gene

Gene Ontology (GO) - Molecular Function for ABHD16B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IBA 21873635
GO:0008474 palmitoyl-(protein) hydrolase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0047372 acylglycerol lipase activity IBA 21873635
genes like me logo Genes that share ontologies with ABHD16B: view
genes like me logo Genes that share phenotypes with ABHD16B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD16B

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD16B Gene

Localization for ABHD16B 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 ABHD16B gene
Compartment Confidence
extracellular 2
golgi apparatus 2
endoplasmic reticulum 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD16B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with ABHD16B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD16B Gene

Pathways & Interactions for ABHD16B Gene

PathCards logo

SuperPathways for ABHD16B Gene

No Data Available

Interacting Proteins for ABHD16B Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000358932 for ABHD16B Gene via STRING

Gene Ontology (GO) - Biological Process for ABHD16B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006660 phosphatidylserine catabolic process IBA 21873635
GO:0052651 monoacylglycerol catabolic process IBA 21873635
genes like me logo Genes that share ontologies with ABHD16B: view

No data available for Pathways by source and SIGNOR curated interactions for ABHD16B Gene

Drugs & Compounds for ABHD16B Gene

No Compound Related Data Available

Transcripts for ABHD16B Gene

mRNA/cDNA for ABHD16B Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 ABHD16B

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD16B Gene

No ASD Table

Relevant External Links for ABHD16B Gene

GeneLoc Exon Structure for
ABHD16B

Expression for ABHD16B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD16B Gene

Protein differential expression in normal tissues from HIPED for ABHD16B Gene

This gene is overexpressed in Pancreas (45.9) and Adipocyte (21.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABHD16B Gene



Protein tissue co-expression partners for ABHD16B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD16B

SOURCE GeneReport for Unigene cluster for ABHD16B Gene:

Hs.266774
genes like me logo Genes that share expression patterns with ABHD16B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD16B Gene

Orthologs for ABHD16B Gene

This gene was present in the common ancestor of animals.

Orthologs for ABHD16B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABHD16B 30 31
  • 99.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C13H20ORF135 31
  • 87 (a)
OneToOne
ABHD16B 30
  • 86.99 (n)
Dog
(Canis familiaris)
Mammalia ABHD16B 30 31
  • 82.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd16b 30
  • 78.82 (n)
Mouse
(Mus musculus)
Mammalia Abhd16b 30 17 31
  • 78.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABHD16B 31
  • 57 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii abhd16a 31
  • 41 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1309 31
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F37A4.1 31
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9728 31
  • 35 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
Species where no ortholog for ABHD16B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ABHD16B Gene

ENSEMBL:
Gene Tree for ABHD16B (if available)
TreeFam:
Gene Tree for ABHD16B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD16B: view image

Paralogs for ABHD16B Gene

Paralogs for ABHD16B Gene

(1) SIMAP similar genes for ABHD16B Gene using alignment to 1 proteins:

  • ABHGB_HUMAN
genes like me logo Genes that share paralogs with ABHD16B: view

Variants for ABHD16B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD16B Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs2281534 - p.Leu10Gln

Additional dbSNP identifiers (rs#s) for ABHD16B Gene

Structural Variations from Database of Genomic Variants (DGV) for ABHD16B Gene

Variant ID Type Subtype PubMed ID
nsv428381 CNV gain+loss 18775914
nsv469773 CNV gain 16826518
nsv509784 CNV insertion 20534489
nsv828804 CNV loss 20364138

Variation tolerance for ABHD16B Gene

Gene Damage Index Score: 5.43; 71.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD16B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD16B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD16B Gene

Disorders for ABHD16B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABHD16B Gene - From: DISEASES

Disorder Aliases PubMed IDs
chanarin-dorfman syndrome
  • cds
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ABHD16B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD16B Gene

Publications for ABHD16B Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  2. Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells. (PMID: 27634302) Oliviero G … Cagney G (Molecular & cellular proteomics : MCP 2016) 3
  3. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles RA … Easton DF (Nature genetics 2013) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Genome-scale RNAi screen for host factors required for HIV replication. (PMID: 18976975) Zhou H … Espeseth AS (Cell host & microbe 2008) 3

Products for ABHD16B Gene

Sources for ABHD16B Gene