NAALADL2

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NAALADL2 (HGNC:23219) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
N-acetylated alpha-linked acidic dipeptidase like 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
9.95(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.71(Read more about gnomAD LOEUF score)
Cytoband
3q26.31
Genomic Coordinates
GRCh37/hg19: chr3:174577124-175528336 NCBI Ensembl UCSC
GRCh38/hg38: chr3:174440982-175810548 NCBI Ensembl UCSC
MANE Select Transcript
NM_207015.3 ENST00000454872.6 (Read more about MANE Select)
Function
May be catalytically inactive. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36722
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/07/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 15168106
    Gene was disrupted by translocation in a patient with Cornelia de Lange syndrome. However mutation screening of NAALADL2 in a panel of CdLS patient DNA samples failed to identify patient-specific mutations.
  • PUBMED: 22106001
    A 2.2 Mb deletion at 3q26.3-3q26.32-encompassing the terminal end of NLGN1 and the entire NAALADL2 gene-detected by genomic microarray, and confirmed by FISH and real-time quantitative PCR. The same size deletion was subsequently found in her healthy, asymptomatic, adult mother.
HI Evidence Comments:
NAALADL2 is in a subtelomeric region of 3q. Reported losses are contiguous with larger deletions (either interstitial or terminal). There are no reports of isolated deletions or duplications of this gene.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)