TSPAN33
protein-codingtetraspanin 33, the group of Tetraspanins
Gene summary
Enables enzyme binding activity. Involved in pore complex assembly; protein localization to plasma membrane; and protein maturation. Located in plasma membrane. Part of pore complex. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~25.0 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 TSPAN33 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_178562.5. 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 | 23 | 23 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 29 | 1 | 0 | 30 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_848657.1 | 8 | MANE Select | |
| Ensembl | ENSP00000483872.1 | 8 | MANE Select | |
| Ensembl | ENSP00000573634.1 | 8 | Standard | |
| Ensembl | ENSP00000573634.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell surface receptor signaling pathway
- cellular protein metabolic process
- protein maturation
- protein localization to plasma membrane
Molecular Function
- enzyme binding
Cellular Component
- endoplasmic reticulum lumen
- plasma membrane
- integral component of plasma membrane
- cell surface
- tetraspanin-enriched microdomain
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000289407
- Coding exons
- 8
- Length
- 23960
- Individuals with no LoFs
- 125725
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 23
- Defined
- 125748
- p
- 0.0000915
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.36 | 107 | 155 | 0.691 | 0.00000812 | 1841 |
| Missense (PolyPhen) | 35 | 49.13 | 0.7124 | 627 | ||
| Synonymous | 0.990 | 51 | 60.8 | 0.839 | 0.00000303 | 557 |
| Loss of Function | 1.60 | 9 | 15.9 | 0.567 | 8.92e-7 | 165 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26686862). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862). {ECO:0000250|UniProtKB:Q8R3S2, ECO:0000269|PubMed:26686862}.;
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- RVIS EVS
- -0.36
- RVIS percentile EVS
- 28.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.450
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |