NBAS
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NBAS (HGNC:15625) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NBAS subunit of NRZ tethering complex
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NAG
%HI
58.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.76(Read more about gnomAD LOEUF score)
Cytoband
2p24.3
Genomic Coordinates
GRCh37/hg19: chr2:15307040-15701458 NCBI Ensembl UCSC
GRCh38/hg38: chr2:14778909-15561334 NCBI Ensembl UCSC
MANE Select Transcript
NM_015909.4 ENST00000281513.10 (Read more about MANE Select)
Function
Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal embryonic development (By similarity). May play a role in the nonsense-mediated decay pathway of mRNAs containing premature stop codons (By similarity). {ECO:0000250|UniProtKB:Q5TYW4, ECO:0000269|PubMed:19369418}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34911
ClinGen Curation ID:
CCID:007518
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • short stature-optic atrophy-Pelger-HuC+t anomaly syndrome Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)