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)