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Aliases for NAALADL2 Gene

Aliases for NAALADL2 Gene

  • N-Acetylated Alpha-Linked Acidic Dipeptidase Like 2 2 3 5
  • Glutamate Carboxypeptidase II-Type Non-Peptidase Homologue 2
  • NAALADase L2 4

External Ids for NAALADL2 Gene

Previous GeneCards Identifiers for NAALADL2 Gene

  • GC03P175899
  • GC03P176059
  • GC03P174156
  • GC03P171954

Summaries for NAALADL2 Gene

GeneCards Summary for NAALADL2 Gene

NAALADL2 (N-Acetylated Alpha-Linked Acidic Dipeptidase Like 2) is a Protein Coding gene. Diseases associated with NAALADL2 include Chromosome 6Pter-P24 Deletion Syndrome and Koolen-De Vries Syndrome. An important paralog of this gene is NAALAD2.

UniProtKB/Swiss-Prot for NAALADL2 Gene

  • May be catalytically inactive.

Additional gene information for NAALADL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAALADL2 Gene

Genomics for NAALADL2 Gene

GeneHancer (GH) Regulatory Elements for NAALADL2 Gene

Promoters and enhancers for NAALADL2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I174858 Promoter/Enhancer 1.2 EPDnew ENCODE 550 +420.9 420852 1.7 FOXA2 MAX CEBPG RAD21 YY1 CTBP1 GATA3 HNF4G RCOR1 TCF7L2 NAALADL2 GC03P174886 RN7SKP40
GH03I174412 Enhancer 0.3 ENCODE 11.5 -25.2 -25153 0.9 POU5F1 NAALADL2 LOC105374226 RPL8P4
GH03I174438 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 0.8 +2.1 2080 5.3 ATF1 SIN3A FEZF1 DMAP1 GLI4 ZNF2 YY1 ELK1 ATF7 FOS NAALADL2 GC03P174559
GH03I174466 Enhancer 0.3 ENCODE 0.3 +28.4 28351 1.1 GLIS1 NAALADL2 GC03P174559
GH03I174444 Enhancer 0.2 Ensembl 0.4 +6.0 6012 0.4 NAALADL2 GC03P174559
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NAALADL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NAALADL2 gene promoter:

Genomic Locations for NAALADL2 Gene

Genomic Locations for NAALADL2 Gene
1,371,980 bases
Plus strand

Genomic View for NAALADL2 Gene

Genes around NAALADL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAALADL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAALADL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAALADL2 Gene

Proteins for NAALADL2 Gene

  • Protein details for NAALADL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
    Protein Accession:
    Secondary Accessions:
    • Q658X9
    • Q6H9J8
    • Q6H9J9
    • Q6PG38

    Protein attributes for NAALADL2 Gene

    795 amino acids
    Molecular mass:
    88682 Da
    Quaternary structure:
    No Data Available
    • 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.
    • Sequence=CAE54974.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence at the C-terminus.; Evidence={ECO:0000305}; Sequence=CAH56310.1; Type=Frameshift; Positions=509, 518; Evidence={ECO:0000305};

    Alternative splice isoforms for NAALADL2 Gene


neXtProt entry for NAALADL2 Gene

Post-translational modifications for NAALADL2 Gene

  • Glycosylation at isoforms=2295, Asn373, isoforms=534, and Asn759

No data available for DME Specific Peptides for NAALADL2 Gene

Domains & Families for NAALADL2 Gene

Gene Families for NAALADL2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NAALADL2 Gene

Suggested Antigen Peptide Sequences for NAALADL2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M28 family. M28B subfamily.
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with NAALADL2: view

Function for NAALADL2 Gene

Molecular function for NAALADL2 Gene

UniProtKB/Swiss-Prot Function:
May be catalytically inactive.

Phenotypes From GWAS Catalog for NAALADL2 Gene

Gene Ontology (GO) - Molecular Function for NAALADL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with NAALADL2: view
genes like me logo Genes that share phenotypes with NAALADL2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NAALADL2 Gene

Localization for NAALADL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAALADL2 Gene

Membrane; Single-pass type II membrane protein.

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 NAALADL2 gene
Compartment Confidence
plasma membrane 3
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NAALADL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NAALADL2: view

Pathways & Interactions for NAALADL2 Gene

SuperPathways for NAALADL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NAALADL2 Gene


No data available for Pathways by source and SIGNOR curated interactions for NAALADL2 Gene

Drugs & Compounds for NAALADL2 Gene

No Compound Related Data Available

Transcripts for NAALADL2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAALADL2 Gene

No ASD Table

Relevant External Links for NAALADL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NAALADL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAALADL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAALADL2 Gene

This gene is overexpressed in Minor Salivary Gland (x5.7).

Protein differential expression in normal tissues from HIPED for NAALADL2 Gene

This gene is overexpressed in Placenta (25.7), Pancreas (17.1), Salivary gland (8.5), and Prostate (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAALADL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NAALADL2 Gene:


SOURCE GeneReport for Unigene cluster for NAALADL2 Gene:


mRNA Expression by UniProt/SwissProt for NAALADL2 Gene:

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.

Evidence on tissue expression from TISSUES for NAALADL2 Gene

  • Kidney(4.2)
  • Liver(4.1)
  • Stomach(4.1)
genes like me logo Genes that share expression patterns with NAALADL2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAALADL2 Gene

Orthologs for NAALADL2 Gene

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

Orthologs for NAALADL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NAALADL2 33 34
  • 99.04 (n)
(Canis familiaris)
Mammalia NAALADL2 33 34
  • 87.28 (n)
(Bos Taurus)
Mammalia NAALADL2 33
  • 86.83 (n)
(Rattus norvegicus)
Mammalia Naaladl2 33
  • 81.97 (n)
(Mus musculus)
Mammalia Naaladl2 33 16
  • 81.8 (n)
(Monodelphis domestica)
Mammalia NAALADL2 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia NAALADL2 34
  • 68 (a)
(Gallus gallus)
Aves NAALADL2 33 34
  • 71.89 (n)
(Anolis carolinensis)
Reptilia NAALADL2 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498087 33
  • 60.27 (n)
(Danio rerio)
Actinopterygii LOC101885785 33
  • 53.55 (n)
CU179643.1 34
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
Species where no ortholog for NAALADL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for NAALADL2 Gene

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

Paralogs for NAALADL2 Gene

Paralogs for NAALADL2 Gene

genes like me logo Genes that share paralogs with NAALADL2: view

Variants for NAALADL2 Gene

Sequence variations from dbSNP and Humsavar for NAALADL2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000000179 -- 175,402,745(+) C/G intron_variant
rs1000000785 -- 175,470,378(+) A/G intron_variant
rs1000001543 -- 175,218,883(+) G/A intron_variant
rs1000002864 -- 175,627,751(+) A/T genic_downstream_transcript_variant, intron_variant
rs1000004025 -- 175,239,786(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NAALADL2 Gene

Variant ID Type Subtype PubMed ID
dgv1430e212 CNV loss 25503493
dgv841n67 CNV loss 20364138
dgv8735n54 CNV loss 21841781
dgv8736n54 CNV loss 21841781
dgv8737n54 CNV loss 21841781
dgv8738n54 CNV loss 21841781
dgv8739n54 CNV loss 21841781
dgv8740n54 CNV loss 21841781
dgv8741n54 CNV loss 21841781
dgv8742n54 CNV loss 21841781
dgv8743n54 CNV loss 21841781
dgv8744n54 CNV loss 21841781
dgv8745n54 CNV loss 21841781
dgv8746n54 CNV loss 21841781
dgv897e199 CNV deletion 23128226
dgv957e214 CNV loss 21293372
esv1002088 CNV insertion 20482838
esv2077484 CNV deletion 18987734
esv21640 CNV loss 19812545
esv2231955 CNV deletion 18987734
esv2502889 CNV deletion 19546169
esv25293 CNV loss 19812545
esv25430 CNV loss 19812545
esv2634942 CNV deletion 19546169
esv2651072 CNV deletion 19546169
esv2656734 CNV deletion 23128226
esv2657792 CNV deletion 23128226
esv2664654 CNV deletion 23128226
esv2672851 CNV deletion 23128226
esv2676736 CNV deletion 23128226
esv2726228 CNV deletion 23290073
esv2726230 CNV deletion 23290073
esv2726231 CNV deletion 23290073
esv275442 CNV gain+loss 21479260
esv2760814 CNV loss 21179565
esv2762365 CNV loss 21179565
esv2762367 CNV loss 21179565
esv2763326 CNV loss 21179565
esv2763715 CNV loss 21179565
esv32881 CNV loss 17666407
esv3303247 CNV mobile element insertion 20981092
esv3304618 CNV mobile element insertion 20981092
esv3310427 CNV novel sequence insertion 20981092
esv3324713 CNV insertion 20981092
esv3375766 CNV insertion 20981092
esv3387465 CNV insertion 20981092
esv34059 CNV loss 18971310
esv3436253 CNV insertion 20981092
esv3562935 CNV deletion 23714750
esv3569123 CNV loss 25503493
esv3569124 CNV loss 25503493
esv3569125 CNV loss 25503493
esv3569128 CNV loss 25503493
esv3569129 CNV loss 25503493
esv3569130 CNV loss 25503493
esv3598733 CNV loss 21293372
esv3598734 CNV loss 21293372
esv3598737 CNV loss 21293372
esv3598738 CNV loss 21293372
esv3598739 CNV loss 21293372
esv3598741 CNV loss 21293372
esv3598742 CNV loss 21293372
esv3598746 CNV gain 21293372
esv3598747 CNV loss 21293372
esv3598748 CNV loss 21293372
esv3598749 CNV loss 21293372
esv3893818 CNV loss 25118596
esv3893819 CNV loss 25118596
esv3893820 CNV loss 25118596
esv3893821 CNV loss 25118596
esv3893822 CNV loss 25118596
nsv1001544 CNV loss 25217958
nsv1002662 CNV gain 25217958
nsv10360 CNV loss 18304495
nsv1076551 CNV duplication 25765185
nsv1111253 CNV tandem duplication 24896259
nsv1111254 CNV tandem duplication 24896259
nsv1122072 CNV deletion 24896259
nsv1132578 CNV duplication 24896259
nsv1139177 CNV deletion 24896259
nsv1141980 OTHER inversion 24896259
nsv236658 CNV deletion 16902084
nsv237834 CNV insertion 16902084
nsv4126 CNV insertion 18451855
nsv436927 CNV loss 16327808
nsv437349 CNV loss 16327808
nsv437898 CNV loss 16468122
nsv461021 CNV loss 19166990
nsv461022 CNV loss 19166990
nsv461023 CNV loss 19166990
nsv471082 CNV loss 18288195
nsv471093 CNV loss 18288195
nsv475712 CNV novel sequence insertion 20440878
nsv476738 CNV novel sequence insertion 20440878
nsv476789 CNV novel sequence insertion 20440878
nsv478593 CNV novel sequence insertion 20440878
nsv478810 CNV novel sequence insertion 20440878
nsv480604 CNV novel sequence insertion 20440878
nsv507141 OTHER sequence alteration 20534489
nsv509867 OTHER sequence alteration 20534489
nsv510887 OTHER complex 20534489
nsv523336 CNV loss 19592680
nsv525074 CNV loss 19592680
nsv526163 CNV loss 19592680
nsv592546 CNV loss 21841781
nsv592550 CNV loss 21841781
nsv592551 CNV loss 21841781
nsv592552 CNV loss 21841781
nsv592598 CNV loss 21841781
nsv592599 CNV gain 21841781
nsv592600 CNV loss 21841781
nsv592601 CNV loss 21841781
nsv592602 CNV loss 21841781
nsv7356 OTHER inversion 18451855
nsv818193 CNV gain 17921354
nsv822346 CNV loss 20364138
nsv829798 CNV gain 17160897
nsv829799 CNV gain 17160897
nsv829800 CNV gain+loss 17160897
nsv829801 CNV gain 17160897
nsv963378 CNV duplication 23825009
nsv963379 CNV duplication 23825009
nsv965410 CNV deletion 23825009
nsv999180 CNV gain 25217958

Variation tolerance for NAALADL2 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.23; 94.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAALADL2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAALADL2 Gene

Disorders for NAALADL2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NAALADL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chromosome 6pter-p24 deletion syndrome
  • 6p subtelomeric deletion syndrome
koolen-de vries syndrome
  • kdvs
cornelia de lange syndrome
  • brachmann de lange syndrome
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NAALADL2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NAALADL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAALADL2 Gene

Publications for NAALADL2 Gene

  1. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. (PMID: 15168106) Tonkin ET … Strachan T (Human genetics 2004) 2 3 4 22 58
  2. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PMID: 21408207) Chung SA … Criswell LA (PLoS genetics 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. (PMID: 19132087) Burgner D … International Kawasaki Disease Genetics Consortium (PLoS genetics 2009) 3 44 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for NAALADL2 Gene

Sources for NAALADL2 Gene

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