TMEM270
protein-codingtransmembrane protein 270
Gene summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
- WBSCR28
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.7 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 TMEM270 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_182504.4. 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 | 4 | 4 | ||||
| missense | 41 | 2 | 1 | 44 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 6 | 1 | 48 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_872310.2 | 3 | MANE Select | |
| Ensembl | ENSP00000316775.2 | 3 | MANE Select | |
| Ensembl | ENSP00000403621.1 | 2 | Standard | |
| Ensembl | ENSP00000763541.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000320531
- Coding exons
- 3
- Length
- 4735
- Individuals with no LoFs
- 124663
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 367
- Defined
- 125032
- p
- 0.00148
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.212 | 141 | 134 | 1.05 | 0.00000664 | 1638 |
| Missense (PolyPhen) | 42 | 32.928 | 1.2755 | 411 | ||
| Synonymous | 0.398 | 61 | 65.1 | 0.937 | 0.00000353 | 593 |
| Loss of Function | -0.0868 | 12 | 11.7 | 1.03 | 6.64e-7 | 100 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.018 | 0.017 | notable |
| Latino/Admixed American | 0.0010 | 0.00099 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.000094 | 0.000046 | rare |
| European (Non-Finnish) | 0.00034 | 0.00034 | rare |
| South Asian | 0.00054 | 0.00052 | rare |
| Other | 0.00084 | 0.00082 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0791
Intolerance Scores
- RVIS EVS
- 0.42
- RVIS percentile EVS
- 77.06
Essentials
- Essential (gene trap)
- N