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AADACL2 Gene

protein-coding   GIFtS: 46
GCID: GC03P151451

Arylacetamide Deacetylase-Like 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arylacetamide Deacetylase-Like 21 2
EC 3.1.1.-3

External Ids:    HGNC: 244271   Entrez Gene: 3447522   Ensembl: ENSG000001979537   UniProtKB: Q6P0933   

Export aliases for AADACL2 gene to outside databases

Previous GC identifers: GC03P152936 GC03P148843


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AADACL2 Gene:
AADACL2 (arylacetamide deacetylase-like 2) is a protein-coding gene. Diseases associated with AADACL2 include infertility, and tuberculosis. GO annotations related to this gene include . An important paralog of this gene is AADAC.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AADACL2 gene promoter:
         Brachyury   FOXD1   Cdc5   MEF-2A   FOXC1   FOXO4   FOXO1a   aMEF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAADACL2 promoter sequence
   Search Chromatin IP Primers for AADACL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AADACL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.1   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25.1

AADACL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AADACL2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P151451:  view genomic region     (about GC identifiers)

Start:
151,451,704 bp from pter      End:
151,479,127 bp from pter
Size:
27,424 bases      Orientation:
plus strand

1 alternative location:
Chr3+,NW_003315913 155,089-178,941     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ADCL2_HUMAN, Q6P093 (See protein sequence)
Recommended Name: Arylacetamide deacetylase-like 2 precursor  
Size: 401 amino acids; 46099 Da
Sequence caution: Sequence=AAH65724.1; Type=Erroneous initiation; Sequence=CAI46075.1; Type=Miscellaneous
discrepancy; Note=Wrong choice of CDS;
Secondary accessions: Q5HYJ4
Alternative splicing: 2 isoforms:  Q6P093-1   Q6P093-3   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for AADACL2: NX_Q6P093

Explore proteomics data for AADACL2 at MOPED


See AADACL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997248.2  
ENSEMBL proteins: 
 ENSP00000387390   ENSP00000348911  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR017157 Arylacetamide_deacetylase
 IPR013094 AB_hydrolase_3
 IPR002168 Lipase_GDXG_AS

Graphical View of Domain Structure for InterPro Entry Q6P093

ProtoNet protein and cluster: Q6P093

2 Blocks protein domains:
IPB002168 Lipolytic enzyme
IPB013094 Alpha/beta hydrolase fold-3


UniProtKB/Swiss-Prot: ADCL2_HUMAN, Q6P093
Similarity: Belongs to the 'GDXG' lipolytic enzyme family


AADACL2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Enzyme Number (IUBMB): EC 3.1.1.-1

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016787hydrolase activity ----
GO:0052689carboxylic ester hydrolase activity IEA--
     
AADACL2 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for AADACL2:
 Decreased POU5F1-GFP protein e 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ADCL2_HUMAN, Q6P093: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
endoplasmic reticulum2

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--
GO:0016021integral component of membrane IEA--

AADACL2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AADACL2
Interactions:

    Search GeneGlobe Interaction Network for AADACL2

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for AADACL2 (ENSP000003489114) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
InteractantInteraction Details
GeneCardExternal ID(s)
PFDN1ENSP000002618134STRING: ENSP00000261813
PFDN5ENSP000003341884STRING: ENSP00000334188
SIN3AENSP000003536224STRING: ENSP00000353622
SIN3BENSP000003691314STRING: ENSP00000369131
COX5BENSP000002584244STRING: ENSP00000258424
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008152metabolic process ----

AADACL2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for AADACL2 (ADCL2)

2 DrugBank Compounds for AADACL2    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
GIBBERELLIN A3-- --target--10592235
GIBBERELLIN A4-- --target--10592235



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for AADACL2 gene: 
NM_207365.3  

Unigene Cluster for AADACL2:

Arylacetamide deacetylase-like 2
Hs.144710  [show with all ESTs]
Unigene Representative Sequence: BX647585
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000445270(uc010hvn.3) ENST00000356517(uc003ezc.3)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat AADACL2

Additional mRNA sequence: 

BC065724.1 BX647585.1 

2 DOTS entries:

DT.210964  DT.99979342 

17 AceView cDNA sequences:

AI130823 AA027036 BX118873 AI122615 NM_207365 AA045966 BX647585 AL599128 
BC065724 AA045911 CB851186 AA045778 AA122302 AA122299 AA027115 AA045832 
AA122269 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AADACL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACTTCACCAT
AADACL2 Expression
About this image

AADACL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AADACL2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.144710
    Custom PCR Arrays for AADACL2
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for AADACL2 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Aadacl21 , 5 arylacetamide deacetylase-like 21, 5 81.05(n)1
79.05(a)1
  3 (29.17 cM)5
6396341  NM_001128091.11  NP_001121563.11 
 600067435 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
47(a)
1 → many
9(22910474-22916639)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
49(a)
1 → many
3(17851732-17873020)
zebrafish
(Danio rerio)
Actinopterygii aadac6
arylacetamide deacetylase
43(a)
1 → many
15(1043532-1062258) ENSDARG00000063621
worm
(Caenorhabditis elegans)
Secernentea Y43F8A.36
trcs-16
(see all 4)
Protein TRCS-1 (trcs-1) mRNA, complete cds
(see all 4)
25(a)
21(a)
(see all 4)
many ↔ many
many ↔ many
(see all 4)
V(19377444-19381031) WBGene00012810
IV(9587098-9588834) WBGene00009186


ENSEMBL Gene Tree for AADACL2 (if available)
TreeFam Gene Tree for AADACL2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AADACL2 gene
AADAC2  AADACL42  AADACL32  NCEH12  
3 SIMAP similar genes for AADACL2 using alignment to 2 protein entries:     ADCL2_HUMAN (see all proteins):
AADAC    NCEH1    AADACL3

AADACL2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AADACL2 (see all 581)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1456698401,2
C--151449726(+) ACAGG-/AGAT/AG
ATAGATAGAT
AGATA
2 -- us2k1 cds10--------
rs718899831,2
C--151449727(+) CAGGA-/AGAT  
        
GATAG
1 -- us2k10--------
rs20096691,2
C,F,A--151449796(-) tatagA/Gtatat 1 -- us2k14Minor allele frequency- G:0.28WA NA 242
rs2003771141,2
--151450182(+) ATATG-/CATA  
        
TGTGT
1 -- us2k10--------
rs15843871,2
C,H--151450183(-) acataT/Cgcata 1 -- us2k11Minor allele frequency- C:0.00NA 2
rs583585061,2
C--151450183(+) TATGC-/ATAT  
        
GTGTG
1 -- us2k11Minor allele frequency- ATAT:0.00CSA 2
rs2019205971,2
C--151450183(+) TATGC-/ATATGT
        
GTGTG
1 -- us2k10--------
rs15843861,2
C,H--151450185(-) acacaT/Catgca 1 -- us2k11Minor allele frequency- C:0.00NA 2
rs24108791,2
--151450205(-) atacaC/Tacaca 1 -- us2k10--------
rs2008667551,2
--151450205(+) GTGTG-/TATGTAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for AADACL2 (151451704 - 151479127 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for AADACL2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv522472CNV Loss19592680
nsv877651CNV Loss21882294
nsv511102CNV Complex20534489
dgv1521e1CNV Complex17122850

Human Gene Mutation Database (HGMD): AADACL2
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AADACL2
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for AADACL2:    
About MalaCards
infertility    tuberculosis


AADACL2 for disorders           About GeneDecksing

Genetic Association Database (GAD): AADACL2

Export disorders for AADACL2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for AADACL2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with AADACL2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (Genome Biol. 2007)
  2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (Nucleic Acids Res. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 344752 HGNC: 24427 AceView: MGC72001 Ensembl:ENSG00000197953 euGenes: HUgn344752
ECgene: AADACL2 H-InvDB: AADACL2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AADACL2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AADACL2 gene:
Search GeneIP for patents involving AADACL2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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