UNC93A
protein-codingunc-93 homolog A
Gene summary
Enables N-acetylglucosamine transmembrane transporter activity. Predicted to be involved in carbohydrate derivative transport. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~44.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to UNC93A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_018974.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 94 | 5 | 2 | 101 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 95 | 8 | 3 | 106 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_061847.2 | 8 | MANE Select | |
| Ensembl | ENSP00000230256.3 | 8 | MANE Select | |
| RefSeq | NP_001137419.1 | 7 | Standard | |
| Ensembl | ENSP00000355794.2 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biological_process
Molecular Function
- molecular_function
Cellular Component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000230256
- Coding exons
- 8
- Length
- 44851
- Individuals with no LoFs
- 92094
- Homozygous LoFs
- 2055
- Heterozygous LoFs
- 31599
- Defined
- 125748
- p
- 0.144
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.529 | 295 | 271 | 1.09 | 0.0000161 | 2911 |
| Missense (PolyPhen) | 95 | 81.053 | 1.1721 | 942 | ||
| Synonymous | -1.09 | 146 | 130 | 1.12 | 0.00000953 | 966 |
| Loss of Function | -0.714 | 21 | 17.8 | 1.18 | 7.59e-7 | 203 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.047 | 0.047 | notable |
| Latino/Admixed American | 0.22 | 0.21 | notable |
| Ashkenazi Jewish | 0.098 | 0.097 | notable |
| East Asian | 0.24 | 0.24 | notable |
| Finnish | 0.16 | 0.16 | notable |
| European (Non-Finnish) | 0.11 | 0.11 | notable |
| South Asian | 0.21 | 0.21 | notable |
| Other | 0.13 | 0.13 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.101
Intolerance Scores
- LoFtool
- 0.450
- RVIS EVS
- 2.54
- RVIS percentile EVS
- 98.71
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.291
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | Medium | High |