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NAALADL2 N-acetylated alpha-linked acidic dipeptidase like 2 [ Homo sapiens (human) ]

Gene ID: 254827, updated on 12-Oct-2019

Summary

Official Symbol
NAALADL2provided by HGNC
Official Full Name
N-acetylated alpha-linked acidic dipeptidase like 2provided by HGNC
Primary source
HGNC:HGNC:23219
See related
Ensembl:ENSG00000177694 MIM:608806
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in prostate (RPKM 1.4), gall bladder (RPKM 1.0) and 24 other tissues See more
Orthologs

Genomic context

See NAALADL2 in Genome Data Viewer
Location:
3q26.31
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (174438534..175810548)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (174577095..175523428)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene neuroligin 1 Neighboring gene RN7SK pseudogene 234 Neighboring gene uncharacterized LOC105374226 Neighboring gene ribosomal protein L8 pseudogene 4 Neighboring gene RN7SK pseudogene 40 Neighboring gene uncharacterized LOC107986027 Neighboring gene NAALADL2 antisense RNA 3 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 8 Neighboring gene NAALADL2 antisense RNA 2 Neighboring gene RNA, U6 small nuclear 1233, pseudogene Neighboring gene microRNA 4789 Neighboring gene DEAD-box helicase 5 pseudogene Neighboring gene RNA, U4 small nuclear 91, pseudogene Neighboring gene NAALADL2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1317, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 2 Neighboring gene actin gamma 1 pseudogene 23 Neighboring gene EI24 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-01-07)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated (2016-01-07)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
NHGRI GWA Catalog
A genome-wide association study of sleep habits and insomnia.
NHGRI GWA Catalog
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
NHGRI GWA Catalog
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
NHGRI GWA Catalog
Genome-wide association study in Han Chinese identifies three novel loci for human height.
NHGRI GWA Catalog
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
Names
N-acetylated alpha-linked acidic dipeptidase 2
NAALADase L2
glutamate carboxypeptidase II-type non-peptidase homologue
NP_996898.2
XP_006713623.1
XP_011510914.1
XP_011510915.1
XP_011510917.1
XP_011510918.1
XP_011510919.1
XP_016861559.1
XP_016861560.1
XP_016861561.1
XP_016861562.1
XP_016861563.1
XP_016861564.1
XP_016861565.1
XP_016861566.1
XP_016861567.1
XP_016861568.1
XP_016861569.1
XP_016861570.1
XP_016861571.1
XP_016861572.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_207015.3NP_996898.2  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2

    See identical proteins and their annotated locations for NP_996898.2

    Status: VALIDATED

    Source sequence(s)
    AC008180, AC083804, AC104150, AC119040, AJ607396, AL832144
    Consensus CDS
    CCDS46960.1
    UniProtKB/Swiss-Prot
    Q58DX5
    Related
    ENSP00000404705.1, ENST00000454872.6
    Conserved Domains (3) summary
    pfam04253
    Location:676734
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:258410
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:427649
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    174438534..175810548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006077.2XP_016861566.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  2. XM_017006075.2XP_016861564.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  3. XM_017006078.2XP_016861567.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  4. XM_017006082.2XP_016861571.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X6

  5. XM_017006080.2XP_016861569.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  6. XM_006713560.3XP_006713623.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    See identical proteins and their annotated locations for XP_006713623.1

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  7. XM_017006074.2XP_016861563.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  8. XM_017006072.2XP_016861561.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  9. XM_017006071.2XP_016861560.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  10. XM_017006070.2XP_016861559.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  11. XM_017006073.2XP_016861562.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  12. XM_017006076.2XP_016861565.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  13. XM_017006079.2XP_016861568.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  14. XM_011512613.2XP_011510915.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X2

    Conserved Domains (3) summary
    pfam04253
    Location:669727
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:251403
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:420642
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  15. XM_011512615.3XP_011510917.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X4

    Conserved Domains (3) summary
    pfam04253
    Location:638696
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:268374
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:389611
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  16. XM_011512612.3XP_011510914.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X1

    Conserved Domains (3) summary
    pfam04253
    Location:686744
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:268420
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:437659
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  17. XM_017006081.2XP_016861570.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X5

  18. XM_011512617.3XP_011510919.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X8

    Conserved Domains (2) summary
    cl10459
    Location:268420
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:437603
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
  19. XM_017006083.2XP_016861572.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X9

  20. XM_011512616.3XP_011510918.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X7

    Conserved Domains (3) summary
    pfam04253
    Location:503561
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:85237
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:254476
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805489.1 Reference GRCh38.p13 PATCHES

    Range
    120740..145274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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