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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 cornelia de lange syndrome and seizure disorder. An important paralog of this gene is FOLH1.

UniProtKB/Swiss-Prot for NAALADL2 Gene

  • May be catalytically inactive.

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

Genomics for NAALADL2 Gene

Regulatory Elements for NAALADL2 Gene

Enhancers for NAALADL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NAALADL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NAALADL2 Gene

Chromosome:
3
Start:
174,438,573 bp from pter
End:
175,810,552 bp from pter
Size:
1,371,980 bases
Orientation:
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:
    Q58DX5-NADL2_HUMAN
    Recommended name:
    Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
    Protein Accession:
    Q58DX5
    Secondary Accessions:
    • Q658X9
    • Q6H9J8
    • Q6H9J9
    • Q6PG38

    Protein attributes for NAALADL2 Gene

    Size:
    795 amino acids
    Molecular mass:
    88682 Da
    Quaternary structure:
    No Data Available
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for NAALADL2 Gene

Proteomics data for NAALADL2 Gene at MOPED

Post-translational modifications for NAALADL2 Gene

  • Glycosylation at Asn 295, Asn 373, Asn 534, and Asn 759
  • Modification sites at PhosphoSitePlus

Other Protein References for NAALADL2 Gene

Antibody Products

  • R&D Systems Antibodies for NAALADL2 (NAALADase-like 2/NAALADL2)

No data available for DME Specific Peptides for NAALADL2 Gene

Domains & Families for NAALADL2 Gene

Protein Domains for NAALADL2 Gene

Suggested Antigen Peptide Sequences for NAALADL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q58DX5

UniProtKB/Swiss-Prot:

NADL2_HUMAN :
  • Belongs to the peptidase M28 family. M28B subfamily.
Family:
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with NAALADL2: view

No data available for Gene Families for NAALADL2 Gene

Function for NAALADL2 Gene

Molecular function for NAALADL2 Gene

UniProtKB/Swiss-Prot Function:
May be catalytically inactive.
genes like me logo Genes that share phenotypes with NAALADL2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for NAALADL2 Gene COMPARTMENTS Subcellular localization image for NAALADL2 gene
Compartment Confidence
plasma membrane 3
cytosol 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for NAALADL2 Gene

Pathways & Interactions for NAALADL2 Gene

SuperPathways for NAALADL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NAALADL2 Gene

None

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

mRNA/cDNA for NAALADL2 Gene

(8) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No ASD Table

Relevant External Links for NAALADL2 Gene

GeneLoc Exon Structure for
NAALADL2
ECgene alternative splicing isoforms for
NAALADL2

Expression for NAALADL2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for NAALADL2 Gene



SOURCE GeneReport for Unigene cluster for NAALADL2 Gene Hs.565848

mRNA Expression by UniProt/SwissProt for NAALADL2 Gene

Q58DX5-NADL2_HUMAN
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.
genes like me logo Genes that share expression patterns with NAALADL2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia NAALADL2 35
  • 86.83 (n)
  • 83.86 (a)
dog
(Canis familiaris)
Mammalia NAALADL2 35
  • 87.28 (n)
  • 83.38 (a)
NAALADL2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naaladl2 35
  • 81.8 (n)
  • 77.99 (a)
Naaladl2 16
chimpanzee
(Pan troglodytes)
Mammalia NAALADL2 35
  • 99.04 (n)
  • 98.49 (a)
NAALADL2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naaladl2 35
  • 81.97 (n)
  • 78.42 (a)
oppossum
(Monodelphis domestica)
Mammalia NAALADL2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAALADL2 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAALADL2 35
  • 71.89 (n)
  • 66.25 (a)
NAALADL2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAALADL2 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498087 35
  • 60.27 (n)
  • 50.13 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101885785 35
  • 53.55 (n)
  • 45.74 (a)
CU179643.1 36
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
OneToOne
Species with no ortholog for NAALADL2:
  • 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

ENSEMBL:
Gene Tree for NAALADL2 (if available)
TreeFam:
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 Sequence Context AA Info Type
VAR_038288 -
VAR_038289 -
rs4371530 - 175,233,966(+) TGACA(C/T)GGAAA reference, missense
rs6802937 - 175,447,291(+) CTGCA(C/T)CCCTC intron-variant, reference, missense
rs9866564 - 175,627,355(+) GGATC(C/G)CTCTT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
nsv878008 CNV Loss 21882294
nsv822346 CNV Loss 20364138
nsv878009 CNV Loss 21882294
nsv878010 CNV Loss 21882294
esv2077484 CNV Deletion 18987734
esv2664654 CNV Deletion 23128226
esv2656734 CNV Deletion 23128226
nsv829798 CNV Gain 17160897
esv2502889 CNV Deletion 19546169
nsv829799 CNV Gain 17160897
nsv236658 CNV Loss 16902084
nsv878011 CNV Gain 21882294
nsv878012 CNV Gain 21882294
esv267527 CNV Insertion 20981092
esv268896 CNV Insertion 20981092
esv2676736 CNV Deletion 23128226
nsv471082 CNV Loss 18288195
esv25430 CNV Loss 19812545
nsv461021 CNV Loss 19166990
nsv436927 CNV Loss 16327808
nsv878013 CNV Gain 21882294
esv2672851 CNV Deletion 23128226
nsv829800 CNV Gain+Loss 17160897
nsv525074 CNV Loss 19592680
esv1002088 CNV Insertion 20482838
nsv237834 CNV Insertion 16902084
nsv510887 CNV Complex 20534489
esv275442 CNV Gain+Loss 21479260
nsv437349 CNV Loss 16327808
nsv878014 CNV Loss 21882294
nsv471093 CNV Loss 18288195
nsv878015 CNV Gain 21882294
nsv10360 CNV Loss 18304495
dgv897e199 CNV Deletion 23128226
esv25293 CNV Loss 19812545
esv2657792 CNV Deletion 23128226
dgv841n67 CNV Loss 20364138
nsv437898 CNV Loss 16468122
nsv526163 CNV Loss 19592680
nsv4126 CNV Insertion 18451855
esv32881 CNV Loss 17666407
nsv461022 CNV Loss 19166990
nsv878016 CNV Loss 21882294
nsv878017 CNV Loss 21882294
nsv818193 CNV Gain 17921354
nsv829801 CNV Gain 17160897
nsv461023 CNV Loss 19166990
esv21640 CNV Loss 19812545
nsv878018 CNV Loss 21882294
esv2634942 CNV Deletion 19546169
nsv878019 CNV Loss 21882294
esv34059 CNV Loss 18971310
nsv509867 CNV Loss 20534489
nsv878020 CNV Loss 21882294
nsv507141 CNV Insertion 20534489
esv2231955 CNV Deletion 18987734
esv2726228 CNV Deletion 23290073
esv2726230 CNV Deletion 23290073
nsv523336 CNV Loss 19592680
esv2726231 CNV Deletion 23290073
nsv878021 CNV Loss 21882294
nsv878022 CNV Loss 21882294
esv2651072 CNV Deletion 19546169
nsv878023 CNV Loss 21882294

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)

Relevant External Links for NAALADL2 Gene

HapMap Linkage Disequilibrium report
NAALADL2

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

Disorders for NAALADL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NAALADL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome
  • brachmann de lange syndrome
seizure disorder
  • epilepsy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NAALADL2

Genetic Association Database (GAD)
NAALADL2
Human Genome Epidemiology (HuGE) Navigator
NAALADL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAALADL2
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 E.T. … Strachan T. (Hum. Genet. 2004) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed in cancer and promotes a pro-migratory and pro-metastatic phenotype. (PMID: 24240687) Whitaker H.C. … Neal D.E. (Oncogene 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PMID: 23319000) Luykx J.J. … Ophoff R.A. (Mol. Psychiatry 2013) 3

Products for NAALADL2 Gene

Sources for NAALADL2 Gene

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