NBAS NBAS subunit of NRZ tethering complex
Gene ID: 51594, updated on 5-Mar-2024Gene type: protein coding
Also known as: NAG; SOPH; ILFS2
- See all available tests in GTR for this gene
- Go to complete Gene record for NBAS
- Go to Variation Viewer for NBAS variants
Summary
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study of conduct disorder symptomatology. GeneReviews: Not available | |
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations GeneReviews: Not available | |
Infantile liver failure syndrome 2 | See labs |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | See labs |
Genomic context
- Location:
- 2p24.3
- Sequence:
- Chromosome: 2; NC_000002.12 (14778909..15561334, complement)
- Total number of exons:
- 58
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for NBAS variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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