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Aliases for ABHD11 Gene

Aliases for ABHD11 Gene

  • Abhydrolase Domain Containing 11 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 11 3 4
  • Williams Beuren Syndrome Chromosome Region 21 2 3
  • Abhydrolase Domain-Containing Protein 11 3 4
  • WBSCR21 3 4
  • Williams-Beuren Syndrome Chromosomal Region 21 Protein 4
  • Protein ABHD11 3
  • EC 3.-.-.- 4
  • PP1226 3

External Ids for ABHD11 Gene

Previous HGNC Symbols for ABHD11 Gene

  • WBSCR21

Previous GeneCards Identifiers for ABHD11 Gene

  • GC07M072597
  • GC07M072788
  • GC07M073150
  • GC07M069033

Summaries for ABHD11 Gene

Entrez Gene Summary for ABHD11 Gene

  • This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]

GeneCards Summary for ABHD11 Gene

ABHD11 (Abhydrolase Domain Containing 11) is a Protein Coding gene. Diseases associated with ABHD11 include Williams-Beuren Syndrome. GO annotations related to this gene include hydrolase activity and hydrolase activity, acting on ester bonds.

Gene Wiki entry for ABHD11 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD11 Gene

Genomics for ABHD11 Gene

Regulatory Elements for ABHD11 Gene

Enhancers for ABHD11 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
GH07G073734 1.3 Ensembl ENCODE 50.5 +3.6 3631 1.9 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF48 GLIS2 ELK1 ZNF143 ABHD11 METTL27 ABHD11-AS1 PIR39049
GH07G073736 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -1.8 -1840 7.8 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 METTL27 ABHD11-AS1 MIR590 ABHD11 CLDN4 STX1A MLXIPL CLDN3 TBL2 BAZ1B
GH07G073885 1.6 Ensembl ENCODE dbSUPER 5.8 -147.8 -147818 1.9 PKNOX1 CREB3L1 ARNT ZNF766 KLF13 REST MEF2D SMARCA4 NBN NR2C1 METTL27 BAZ1B PMS2P7 ABHD11 GC07M073860 GC07M073911
GH07G073891 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -155.5 -155460 6.3 PKNOX1 CREB3L1 ARNT MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 YY1 BAZ1B METTL27 PMS2P7 GTF2IRD2 ABHD11 GC07M073860 GC07M073911
GH07G073825 1.6 Ensembl ENCODE dbSUPER 4.6 -91.1 -91052 8.4 HDGF PKNOX1 FOXA2 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B METTL27 TMEM270 DNAJC30 BUD23 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD11 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ABHD11 Gene

73,736,094 bp from pter
73,738,885 bp from pter
2,792 bases
Minus strand

Genomic View for ABHD11 Gene

Genes around ABHD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD11 Gene

Proteins for ABHD11 Gene

  • Protein details for ABHD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein ABHD11
    Protein Accession:
    Secondary Accessions:
    • H7BYM8
    • Q6PJU0
    • Q8N722
    • Q8N723
    • Q8NFV2
    • Q8NFV3
    • Q9HBS8

    Protein attributes for ABHD11 Gene

    315 amino acids
    Molecular mass:
    34690 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAS07472.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ABHD11 Gene

neXtProt entry for ABHD11 Gene

Post-translational modifications for ABHD11 Gene

  • Ubiquitination at Lys87
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD11 Gene

Domains & Families for ABHD11 Gene

Gene Families for ABHD11 Gene

Suggested Antigen Peptide Sequences for ABHD11 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AB hydrolase superfamily.
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD11: view

Function for ABHD11 Gene

Enzyme Numbers (IUBMB) for ABHD11 Gene

Gene Ontology (GO) - Molecular Function for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD11: view
genes like me logo Genes that share phenotypes with ABHD11: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD11

CRISPR Products

miRNA for ABHD11 Gene

miRTarBase miRNAs that target ABHD11

Inhibitory RNA Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD11 Gene

Localization for ABHD11 Gene

Subcellular locations from

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 ABHD11 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ABHD11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD11 Gene

Pathways & Interactions for ABHD11 Gene

SuperPathways for ABHD11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABHD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ABHD11: view

No data available for Pathways by source and SIGNOR curated interactions for ABHD11 Gene

Drugs & Compounds for ABHD11 Gene

No Compound Related Data Available

Transcripts for ABHD11 Gene

Unigene Clusters for ABHD11 Gene

Abhydrolase domain containing 11:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD11 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - - -
SP6: - -
SP7: - - - - -
SP8: - - - -
SP9: -
SP10: - - - - - -
SP11: -
SP12: -

Relevant External Links for ABHD11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABHD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABHD11 Gene

This gene is overexpressed in Colon - Transverse (x4.1).

Protein differential expression in normal tissues from HIPED for ABHD11 Gene

This gene is overexpressed in Salivary gland (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD11 Gene

Protein tissue co-expression partners for ABHD11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABHD11 Gene:


SOURCE GeneReport for Unigene cluster for ABHD11 Gene:


mRNA Expression by UniProt/SwissProt for ABHD11 Gene:

Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for ABHD11 Gene

  • Eye(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ABHD11: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD11 Gene

Orthologs for ABHD11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABHD11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABHD11 34 35
  • 99.89 (n)
(Canis familiaris)
Mammalia ABHD11 34 35
  • 84.49 (n)
(Bos Taurus)
Mammalia ABHD11 34 35
  • 81.35 (n)
(Mus musculus)
Mammalia Abhd11 34 16 35
  • 76.61 (n)
(Rattus norvegicus)
Mammalia Abhd11 34
  • 76.07 (n)
(Ornithorhynchus anatinus)
Mammalia ABHD11 35
  • 64 (a)
(Monodelphis domestica)
Mammalia -- 35
  • 61 (a)
-- 35
  • 56 (a)
-- 35
  • 54 (a)
(Gallus gallus)
Aves ABHD11 34 35
  • 61.07 (n)
(Anolis carolinensis)
Reptilia ABHD11 35
  • 48 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd11 34
  • 55.81 (n)
(Danio rerio)
Actinopterygii abhd11 34 35
  • 59.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009289 34
  • 50.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2059 34 35
  • 45.47 (n)
CG14717 35
  • 28 (a)
(Caenorhabditis elegans)
Secernentea R05D7.4 34 35
  • 48.61 (n)
F32B4.6 35
  • 27 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL180C 34
  • 48.18 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05863g 34
  • 47.11 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMO32 34 35 37
  • 45.98 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01454 34
  • 46.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22H12.03 34
  • 41.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
Species where no ortholog for ABHD11 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)

Evolution for ABHD11 Gene

Gene Tree for ABHD11 (if available)
Gene Tree for ABHD11 (if available)

Paralogs for ABHD11 Gene

No data available for Paralogs for ABHD11 Gene

Variants for ABHD11 Gene

Sequence variations from dbSNP and Humsavar for ABHD11 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000744587 -- 73,737,854(+) TGGAG(A/G)GGAAG intron-variant
rs1000817951 -- 73,736,609(+) GTCAG(C/T)GTGGA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1002860930 -- 73,740,308(+) TCGAA(A/C)TCCTG upstream-variant-2KB
rs1002916512 -- 73,740,167(+) ACTTG(A/G)GAGAT upstream-variant-2KB
rs1003669079 -- 73,736,362(+) AGCCT(C/T)CAGAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ABHD11 Gene

Variant ID Type Subtype PubMed ID
esv2761337 CNV loss 21179565
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for ABHD11 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD11 Gene

Disorders for ABHD11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD11 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Note=ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Relevant External Links for ABHD11

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ABHD11: view

No data available for Genatlas for ABHD11 Gene

Publications for ABHD11 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. 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) 3 4 64
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for ABHD11 Gene

Sources for ABHD11 Gene

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