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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAALADL2 Gene

protein-coding   GIFtS: 47
GCID: GC03P174156

N-Acetylated Alpha-Linked Acidic Dipeptidase-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)
About This Section

Aliases
N-Acetylated Alpha-Linked Acidic Dipeptidase-Like 21 2
Glutamate Carboxypeptidase II-Type Non-Peptidase Homologue1 2
NAALADase L22 3
Inactive N-Acetylated-Alpha-Linked Acidic Dipeptidase-Like Protein 22
N-Acetylated Alpha-Linked Acidic Dipeptidase 22

External Ids:    HGNC: 232191   Entrez Gene: 2548272   Ensembl: ENSG000001776947   OMIM: 6088065   UniProtKB: Q58DX53   

Export aliases for NAALADL2 gene to outside databases

Previous GC identifers: GC03P175899 GC03P176059 GC03P171954


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NAALADL2 Gene: 
NAALADL2 (N-acetylated alpha-linked acidic dipeptidase-like 2) is a protein-coding gene. Diseases associated with NAALADL2 include cornelia de lange syndrome, and duodenitis. GO annotations related to this gene include peptidase activity. An important paralog of this gene is NAALADL1.

UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5
Function: May be catalytically inactive




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAALADL2 gene promoter:
         STAT5B   ATF-2   HTF   Nkx2-5   MIF-1   STAT5A   CUTL1   HNF-4alpha1   HFH-1   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAALADL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAALADL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAALADL2


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

Entrez Gene cytogenetic band: 3q26.31   Ensembl cytogenetic band:  3q26.31   HGNC cytogenetic band: 3q26.3

NAALADL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAALADL2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P174156:  view genomic region     (about GC identifiers)

Start:
174,156,363 bp from pter      End:
175,523,428 bp from pter
Size:
1,367,066 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5 (See protein sequence)
Recommended Name: Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2  
Size: 795 amino acids; 88682 Da
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
Miscellaneous: The gene maps to 3q26.31, a region associated with Cornelia de Lange syndrome. However,
PubMed:15168106 failed to identify specific mutations in a panel of DNA samples from patients with Cornelia de
Lange syndrome
Caution: Although related to the peptidase M28 family, it lacks the conserved zinc-binding and active sites and
therefore has probably lost hydrolase activity
Sequence caution: Sequence=CAE54974.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence at the
C-terminus; Sequence=CAH56310.1; Type=Frameshift; Positions=509, 518;
Secondary accessions: Q658X9 Q6H9J8 Q6H9J9 Q6PG38
Alternative splicing: 2 isoforms:  Q58DX5-1   Q58DX5-2   

Explore the universe of human proteins at neXtProt for NAALADL2: NX_Q58DX5

Explore proteomics data for NAALADL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q58DX5

  • NAALADL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAALADL2 Protein Expression
    REFSEQ proteins: NP_996898.2  
    ENSEMBL proteins: 
     ENSP00000409858   ENSP00000404705   ENSP00000396969  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    NAALADL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR007365 TFR-like_dimer_dom
     IPR007484 Peptidase_M28

    Graphical View of Domain Structure for InterPro Entry Q58DX5

    ProtoNet protein and cluster: Q58DX5

    UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5
    Similarity: Belongs to the peptidase M28 family. M28B subfamily


    NAALADL2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NADL2_HUMAN, Q58DX5
    Function: May be catalytically inactive

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008233peptidase activity IEA--
         
    NAALADL2 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAALADL2

    1 Interacting protein for NAALADL2 (Q58DX53) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    NAALADL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NAALADL2 (NADL2)

    Search CenterWatch for drugs/clinical trials and news about NAALADL2 / NADL2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAALADL2 gene: 
    NM_207015.2  

    Unigene Clusters for NAALADL2:

    N-acetylated alpha-linked acidic dipeptidase-like 2
    Hs.565848 , Hs.603646  [show with all ESTs], Hs.660010  [show with all ESTs]
    Unigene Representative Sequences: AJ607399, BQ890675, AL832144
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482228(uc003fiq.1) ENST00000491329(uc003fir.3) ENST00000481679
    ENST00000478624 ENST00000495900 ENST00000489729(uc003fis.3) ENST00000434257(uc010hwx.2)
    ENST00000454872(uc003fit.3) ENST00000485853 ENST00000473253(uc003fiu.1)
    ENST00000489299(uc010hwy.1) ENST00000414826(uc010hwz.1)
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    SwitchGear 3'UTR luciferase reporter plasmidNAALADL2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AJ607396.1 AJ607397.1 AK131044.1 AK308416.1 AL832144.1 AL832931.1 BC057243.1 

    7 DOTS entries:

    DT.91671374  DT.100018865  DT.95098495  DT.101984882  DT.101960522  DT.120850081  DT.91822936 

    1 AceView cDNA sequence:

    AJ607399 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAALADL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTTTACA
    NAALADL2 Expression
    About this image


    See NAALADL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAALADL2

    SOURCE GeneReport for Unigene clusters: Hs.565848 Hs.603646 Hs.660010

    UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5
    Tissue specificity: Expressed at higher level in kidney and placenta. In embryo, it is mainly confined to duodenal
    and stomach endoderm, mesonephros, metanephros and pancreas

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    In Situ
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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)
    About This Section

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

    Orthologs for NAALADL2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naaladl21 , 5 N-acetylated alpha-linked acidic dipeptidase-like 21, 5 81.8(n)1
    77.99(a)1
      3 (9.24 cM)5
    6357021  XM_975226.31  XP_980320.31 
     238049165 
    chicken
    (Gallus gallus)
    Aves NAALADL21 N-acetylated alpha-linked acidic dipeptidase-like 2 71.88(n)
    66.15(a)
      429156  XM_426711.3  XP_426711.3 
    lizard
    (Anolis carolinensis)
    Reptilia NAALADL26
    N-acetylated alpha-linked acidic dipeptidase-like ...
    62(a)
    1 ↔ 1
    3(3920676-4615558)
    zebrafish
    (Danio rerio)
    Actinopterygii CU179643.16
    Uncharacterized protein
    44(a)
    1 ↔ 1
    11(9068213-9577765)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS706
    Protein of unknown function involved in vacuolar p...
    15(a)
    1 → many
    X(656254-658689)


    ENSEMBL Gene Tree for NAALADL2 (if available)
    TreeFam Gene Tree for NAALADL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAALADL2 gene
    NAALADL12  TFRC2  FOLH12  TFR22  NAALAD22  

    NAALADL2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/20565 SNPs in NAALADL2 are shown (see all 20565)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0382894
    ----see VAR_0382892 I M mis40--------
    VAR_0382884
    ----see VAR_0382882 G S mis40--------
    rs680288651,2
    C--172316870(+) AAAAG-/A/A   
       AA
    /GA
    ATTTT
    2 -- int1 cds11NA 2
    rs44888401,2
    C,A,H--172375491(+) gtgtgA/Tgtgtg 1 -- int10--------
    rs669918091,2
    C--172685825(-) ATTGG-/TATATATATATATATATAT
    ATATATATATATATATATATA
    TATAT
    1 -- int11Minor allele frequency- TATATATATATATATATATATATATATATATATATATATA:0.00NA 2
    rs669052301,2
    C--172889331(-) AAAAA-/AG/G  
            
    AAAGA
    1 -- int12NA 4
    rs1460518371,2
    C--174575121(+) GTATT-/TATGTTA 1 -- us2k10--------
    rs48946871,2
    C,F,A,H--174575144(+) CTTACA/GAACTT 1 -- us2k136Minor allele frequency- G:0.47EA NA NS WA CSA 3175
    rs48946881,2
    C,F,A,H--174575192(+) GTTATT/CGTTTA 1 -- us2k121Minor allele frequency- C:0.48EA NS NA WA CSA 2019
    rs1400134951,2
    --174575193(+) TTATCA/GTTTAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NAALADL2 (174156363 - 174406363 bp, first 250kb of NAALADL2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/65 variations for NAALADL2 (see all 65):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2656734CNV Deletion23128226
    esv2651072CNV Deletion19546169
    dgv897e199CNV Deletion23128226
    esv2502889CNV Deletion19546169
    esv2634942CNV Deletion19546169
    esv2657792CNV Deletion23128226
    esv2726231CNV Deletion23290073
    esv2231955CNV Deletion18987734
    esv2726228CNV Deletion23290073
    esv2726230CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608806    OMIM disorders: --

    4 diseases for NAALADL2:    About MalaCards
    cornelia de lange syndrome    duodenitis    systemic lupus erythematosus    lupus erythematosus

    1 disease from the University of Copenhagen DISEASES database for NAALADL2:
    Cornelia de Lange syndrome

    NAALADL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NAALADL2
    Human Genome Epidemiology (HuGE) Navigator: NAALADL2 (2 documents)

    Export disorders for NAALADL2 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)
    About This Section

    PubMed articles for NAALADL2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with NAALADL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. (PubMed id 15168106)1, 2, 3, 9 Tonkin E.T.... Strachan T. (2004)
    2. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PubMed id 21408207)1, 4 Chung S.A....Criswell L.A. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. (PubMed id 19132087)1, 4 Burgner D....Hibberd M.L. (2009)
    5. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. (PubMed id 23509962)1 Greliche N....Tregouet D.A. (2013)
    6. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PubMed id 23319000)1 Luykx J.J....Ophoff R.A. (2013)
    7. Genome-wide association study in Han Chinese identifie s three novel loci for human height. (PubMed id 23456168)1 Hao Y....Gu D. (2013)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    10. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 254827 HGNC: 23219 AceView: NAALADL2.1 Ensembl:ENSG00000177694 euGenes: HUgn254827
    ECgene: NAALADL2 H-InvDB: NAALADL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAALADL2 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 NAALADL2 gene:
    Search GeneIP for patents involving NAALADL2

    GeneCards and IP:
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