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

Gene ID: 254827, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:23219
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
Summary
Predicted to act upstream of or within response to bacterium. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in prostate (RPKM 1.4), gall bladder (RPKM 1.0) and 24 other tissues See more
Orthologs
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Genomic context

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See NAALADL2 in Genome Data Viewer
Location:
3q26.31
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (174440982..175810548)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (177225521..178605522)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (174577124..175528336)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:174130757-174131368 Neighboring gene uncharacterized LOC105374226 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:174156710-174157909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:174158538-174159189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:174218495-174218996 Neighboring gene ribosomal protein L8 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr3:174255942-174256889 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:174258235-174258749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:174323251-174323751 Neighboring gene RN7SK pseudogene 40 Neighboring gene uncharacterized LOC107986027 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:174769760-174770554 Neighboring gene uncharacterized LOC124906305 Neighboring gene NAALADL2 antisense RNA 3 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory region 14988 Neighboring gene NAALADL2 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20834 Neighboring gene RNA, U6 small nuclear 1233, pseudogene Neighboring gene microRNA 4789 Neighboring gene RNA, U4 small nuclear 91, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66754 Neighboring gene small nucleolar RNA U13 Neighboring gene NAALADL2 antisense RNA 1 Neighboring gene DDX5 pseudogene 1 Neighboring gene UBE2V1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1317, pseudogene Neighboring gene uncharacterized LOC124909459 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:175540382-175540932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:175552923-175553428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:175623336-175623892 Neighboring gene actin gamma 1 pseudogene 23

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Tonkin ET, et al. Hum Genet, 2004 Jul. PMID 15168106, Free PMC Article
  2. N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed in cancer and promotes a pro-migratory and pro-metastatic phenotype. Whitaker HC, et al. Oncogene, 2014 Nov 6. PMID 24240687
  3. Identification of genetic susceptibility loci for intestinal Behçet's disease. Kim SW, et al. Sci Rep, 2017 Jan 3. PMID 28045058, Free PMC Article
  4. Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability. Millson A, et al. Am J Med Genet A, 2012 Jan. PMID 22106001
  5. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. Burgner D, et al. PLoS Genet, 2009 Jan. PMID 19132087, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GWAS showed intestinal Behcet's disease-specific associations with YIPF7 gene locus rs6838327. Down-regulation of YIPF7 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo.
    Title: Identification of genetic susceptibility loci for intestinal Behçet's disease.
  2. Data suggest that changes in expression of N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) can impact upon a number of pro-oncogenic pathways and processes, making it a useful biomarker for both diagnosis and prognosis.
    Title: N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed in cancer and promotes a pro-migratory and pro-metastatic phenotype.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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_016861560.1
XP_016861562.1
XP_016861563.1
XP_016861564.1
XP_016861565.1
XP_016861566.1
XP_016861567.1
XP_016861569.1
XP_016861570.1
XP_016861572.1
XP_047303832.1
XP_047303833.1
XP_047303834.1
XP_047303835.1
XP_047303836.1
XP_047303837.1
XP_054201937.1
XP_054201938.1
XP_054201939.1
XP_054201940.1
XP_054201941.1
XP_054201942.1
XP_054201943.1
XP_054201944.1
XP_054201945.1
XP_054201946.1
XP_054201947.1
XP_054201948.1
XP_054201949.1
XP_054201950.1
XP_054201951.1
XP_054201952.1
XP_054201953.1
XP_054201954.1
XP_054201955.1
XP_054201956.1
XP_054201957.1
XP_054201958.1
XP_054201959.1
XP_054201960.1
XP_054201961.1

NCBI Reference Sequences (RefSeq)

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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_207015.3 → NP_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, Q658X9, Q6H9J8, Q6H9J9, Q6PG38
    Related
    ENSP00000404705.1, ENST00000454872.6
    Conserved Domains (3) summary
    pfam04253
    Location:676 → 734
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:258 → 410
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:427 → 649
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    174440982..175810548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006077.3 → XP_016861566.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  2. XM_047447876.1 → XP_047303832.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  3. XM_017006075.3 → XP_016861564.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  4. XM_017006078.3 → XP_016861567.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  5. XM_047447877.1 → XP_047303833.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  6. XM_006713560.4 → XP_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:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  7. XM_017006080.3 → XP_016861569.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  8. XM_017006074.3 → XP_016861563.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  9. XM_017006071.2 → XP_016861560.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  10. XM_017006073.2 → XP_016861562.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  11. XM_017006076.2 → XP_016861565.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    Conserved Domains (3) summary
    pfam04253
    Location:659 → 717
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:241 → 393
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:410 → 632
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  12. XM_011512613.3 → XP_011510915.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X2

    Conserved Domains (3) summary
    pfam04253
    Location:669 → 727
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:251 → 403
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:420 → 642
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  13. XM_047447880.1 → XP_047303836.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X7

  14. XM_047447878.1 → XP_047303834.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  15. XM_047447879.1 → XP_047303835.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X6

  16. XM_047447881.1 → XP_047303837.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X11

  17. XM_011512612.4 → XP_011510914.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X1

    Conserved Domains (3) summary
    pfam04253
    Location:686 → 744
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:268 → 420
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:437 → 659
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  18. XM_017006081.3 → XP_016861570.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X5

  19. XM_011512615.4 → XP_011510917.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X4

    Conserved Domains (3) summary
    pfam04253
    Location:638 → 696
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:268 → 374
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:389 → 611
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  20. XM_011512617.4 → XP_011510919.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X9

    Conserved Domains (2) summary
    cl10459
    Location:268 → 420
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:437 → 603
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  21. XM_017006083.2 → XP_016861572.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X10

  22. XM_011512616.3 → XP_011510918.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X8

    Conserved Domains (3) summary
    pfam04253
    Location:503 → 561
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl10459
    Location:85 → 237
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    cl14876
    Location:254 → 476
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805489.1 Reference GRCh38.p14 PATCHES

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    177225521..178605522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345972.1 → XP_054201947.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  2. XM_054345965.1 → XP_054201940.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  3. XM_054345966.1 → XP_054201941.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  4. XM_054345973.1 → XP_054201948.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  5. XM_054345976.1 → XP_054201951.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  6. XM_054345974.1 → XP_054201949.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  7. XM_054345977.1 → XP_054201952.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  8. XM_054345971.1 → XP_054201946.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  9. XM_054345970.1 → XP_054201945.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  10. XM_054345968.1 → XP_054201943.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  11. XM_054345967.1 → XP_054201942.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  12. XM_054345969.1 → XP_054201944.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  13. XM_054345975.1 → XP_054201950.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  14. XM_054345982.1 → XP_054201957.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X7

  15. XM_054345964.1 → XP_054201939.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X2

  16. XM_054345985.1 → XP_054201960.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X11

  17. XM_054345978.1 → XP_054201953.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

  18. XM_054345981.1 → XP_054201956.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X6

  19. XM_054345962.1 → XP_054201937.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X1

  20. XM_054345980.1 → XP_054201955.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X5

  21. XM_054345979.1 → XP_054201954.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X4

  22. XM_054345984.1 → XP_054201959.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X9

  23. XM_054345963.1 → XP_054201938.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X12

  24. XM_054345986.1 → XP_054201961.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X13

  25. XM_054345983.1 → XP_054201958.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q58DX5.3 GenPept UniProtKB/Swiss-Prot:Q58DX5

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