Aliases for AADACL2 Gene

Aliases for AADACL2 Gene

  • Arylacetamide Deacetylase Like 2 2 3 5
  • Arylacetamide Deacetylase-Like 2 3 4
  • EC 3.1.1.- 4
  • MGC72001 2
  • AADACL2 5

External Ids for AADACL2 Gene

Previous GeneCards Identifiers for AADACL2 Gene

  • GC03P152936
  • GC03P151451
  • GC03P148843

Summaries for AADACL2 Gene

GeneCards Summary for AADACL2 Gene

AADACL2 (Arylacetamide Deacetylase Like 2) is a Protein Coding gene. Diseases associated with AADACL2 include Hypotonia-Cystinuria Syndrome and Agnathia-Otocephaly Complex. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is AADAC.

Additional gene information for AADACL2 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 AADACL2 Gene

Genomics for AADACL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AADACL2 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
GH03J151733 Promoter 0.3 EPDnew 600.7 0.0 -6 0.1 AADACL2 piR-56692-023 IGSF10 AADACL2-AS1
GH03J151199 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 4.3 -532.3 -532323 4.3 POLR2A IKZF2 RELB RUNX3 BCL11A NFIC NFIB NFIA TBX21 ATF7 GPR171 P2RY14 AADAC AADACL2 RNA5SP145 RF00001-229 MF281437-038 MED12L
GH03J151135 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.4 -598.7 -598715 3.2 PRDM10 RFX1 LEF1 ZIC2 PKNOX1 HDAC1 SOX6 TCF12 EP300 HMBOX1 MED12L AADACL2 lnc-SELENOT-5 GPR171
GH03J152195 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 2.5 +467.3 467294 10 LEF1 IKZF1 JUND MTA2 RELA PKNOX1 MTA1 NR2C1 ZNF740 POLR2A MBNL1 MBNL1-AS1 AADACL2 LOC101928166 piR-37663-038 KR024014 SUCNR1
GH03J151160 Enhancer 0.2 Ensembl 5 -572.8 -572815 1 MED12L AADACL2 hsa-miR-1273e-049 RF00994-691 GPR171
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AADACL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AADACL2

Top Transcription factor binding sites by QIAGEN in the AADACL2 gene promoter:
  • aMEF-2
  • Brachyury
  • Cdc5
  • FOXC1
  • FOXD1
  • FOXO1
  • FOXO1a
  • FOXO4
  • MEF-2A

Genomic Locations for AADACL2 Gene

Genomic Locations for AADACL2 Gene
chr3:151,733,916-151,761,339
(GRCh38/hg38)
Size:
27,424 bases
Orientation:
Plus strand
chr3:151,451,704-151,479,127
(GRCh37/hg19)
Size:
27,424 bases
Orientation:
Plus strand

Genomic View for AADACL2 Gene

Genes around AADACL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AADACL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AADACL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AADACL2 Gene

Proteins for AADACL2 Gene

  • Protein details for AADACL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P093-ADCL2_HUMAN
    Recommended name:
    Arylacetamide deacetylase-like 2
    Protein Accession:
    Q6P093
    Secondary Accessions:
    • Q5HYJ4

    Protein attributes for AADACL2 Gene

    Size:
    401 amino acids
    Molecular mass:
    46099 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH65724.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAI46075.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for AADACL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AADACL2 Gene

Post-translational modifications for AADACL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AADACL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AADACL2 Gene

Domains & Families for AADACL2 Gene

Gene Families for AADACL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for AADACL2 Gene

InterPro:
Blocks:
  • Lipolytic enzyme
  • Alpha/beta hydrolase fold-3
ProtoNet:

Suggested Antigen Peptide Sequences for AADACL2 Gene

GenScript: Design optimal peptide antigens:
  • Arylacetamide deacetylase-like 2 (ADCL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P093

UniProtKB/Swiss-Prot:

ADCL2_HUMAN :
  • Belongs to the 'GDXG' lipolytic enzyme family.
Family:
  • Belongs to the 'GDXG' lipolytic enzyme family.
genes like me logo Genes that share domains with AADACL2: view

Function for AADACL2 Gene

Enzyme Numbers (IUBMB) for AADACL2 Gene

Phenotypes From GWAS Catalog for AADACL2 Gene

Gene Ontology (GO) - Molecular Function for AADACL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IBA 21873635
GO:0034338 short-chain carboxylesterase activity IBA --
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with AADACL2: view
genes like me logo Genes that share phenotypes with AADACL2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AADACL2

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AADACL2 Gene

Localization for AADACL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AADACL2 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 AADACL2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AADACL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AADACL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AADACL2 Gene

Pathways & Interactions for AADACL2 Gene

PathCards logo

SuperPathways for AADACL2 Gene

No Data Available

Interacting Proteins for AADACL2 Gene

Gene Ontology (GO) - Biological Process for AADACL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009056 catabolic process IBA --
genes like me logo Genes that share ontologies with AADACL2: view

No data available for Pathways by source and SIGNOR curated interactions for AADACL2 Gene

Drugs & Compounds for AADACL2 Gene

(2) Drugs for AADACL2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gibberellin A3 Experimental Pharma Target 0
Gibberellin A4 Experimental Pharma Target 0
genes like me logo Genes that share compounds with AADACL2: view

Transcripts for AADACL2 Gene

mRNA/cDNA for AADACL2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 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 AADACL2

Alternative Splicing Database (ASD) splice patterns (SP) for AADACL2 Gene

No ASD Table

Relevant External Links for AADACL2 Gene

GeneLoc Exon Structure for
AADACL2

Expression for AADACL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AADACL2 Gene

mRNA differential expression in normal tissues according to GTEx for AADACL2 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x25.4) and Skin - Not Sun Exposed (Suprapubic) (x22.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AADACL2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AADACL2

SOURCE GeneReport for Unigene cluster for AADACL2 Gene:

Hs.144710

Evidence on tissue expression from TISSUES for AADACL2 Gene

  • Heart(2.7)
  • Pancreas(2.7)
  • Liver(2.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with AADACL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AADACL2 Gene

Orthologs for AADACL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AADACL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AADACL2 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AADACL2 30 31
  • 81.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Aadacl2 30 17 31
  • 81.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aadacl2 30
  • 80.47 (n)
Cow
(Bos Taurus)
Mammalia AADACL2 30 31
  • 74.23 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 60 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 50 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 47 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 49 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii aadac 31
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y43F8A.3 31
  • 25 (a)
ManyToMany
trcs-1 31
  • 21 (a)
ManyToMany
F16F9.4 31
  • 20 (a)
ManyToMany
T09B9.1 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToMany
Species where no ortholog for AADACL2 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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 AADACL2 Gene

ENSEMBL:
Gene Tree for AADACL2 (if available)
TreeFam:
Gene Tree for AADACL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AADACL2: view image

Paralogs for AADACL2 Gene

Paralogs for AADACL2 Gene

(3) SIMAP similar genes for AADACL2 Gene using alignment to 2 proteins:

  • ADCL2_HUMAN
  • F8WFE5_HUMAN
genes like me logo Genes that share paralogs with AADACL2: view

Variants for AADACL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AADACL2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1052562 - p.Leu343Ile
rs1972977 - p.Ala186Ser

Additional dbSNP identifiers (rs#s) for AADACL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AADACL2 Gene

Variant ID Type Subtype PubMed ID
esv2759189 CNV loss 17122850
esv3598186 CNV loss 21293372
nsv511102 OTHER complex 20534489
nsv522472 CNV loss 19592680

Variation tolerance for AADACL2 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AADACL2 Gene

Human Gene Mutation Database (HGMD)
AADACL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AADACL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AADACL2 Gene

Disorders for AADACL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AADACL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
agnathia-otocephaly complex
  • agotc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AADACL2

genes like me logo Genes that share disorders with AADACL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AADACL2 Gene

Publications for AADACL2 Gene

  1. Isolation and characterization of arylacetamide deacetylase in cynomolgus macaques. (PMID: 25715734) Uno Y … Imai T (The Journal of veterinary medical science 2015) 2 3
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4
  4. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E … Guerrin M (Genome biology 2007) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3

Products for AADACL2 Gene

  • Signalway Proteins for AADACL2

Sources for AADACL2 Gene