TMEM134
protein-codingtransmembrane protein 134
Gene summary
Located in cytosol and perinuclear region of cytoplasm. [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 ~7.6 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 TMEM134 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_025124.4. 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 | 48 | 2 | 50 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 51 | 4 | 0 | 55 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_079400.1 | 7 | MANE Select | |
| Ensembl | ENSP00000312615.2 | 7 | MANE Select | |
| RefSeq | NP_001072118.1 | 6 | Standard | |
| RefSeq | NP_001072119.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- protein binding
Cellular Component
- integral component of membrane
- perinuclear region of cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000308022
- Coding exons
- 7
- Length
- 4920
- Individuals with no LoFs
- 124607
- Homozygous LoFs
- 5
- Heterozygous LoFs
- 1113
- Defined
- 125725
- p
- 0.00446
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.398 | 106 | 95.1 | 1.11 | 0.00000500 | 1216 |
| Missense (PolyPhen) | 39 | 34.471 | 1.1314 | 479 | ||
| Synonymous | -0.650 | 47 | 41.7 | 1.13 | 0.00000218 | 390 |
| Loss of Function | -0.954 | 13 | 9.78 | 1.33 | 5.04e-7 | 107 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00086 | 0.00086 | rare |
| Latino/Admixed American | 0.0020 | 0.0020 | notable |
| Ashkenazi Jewish | 0.0014 | 0.0014 | notable |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0.0046 | 0.0046 | notable |
| European (Non-Finnish) | 0.0075 | 0.0074 | notable |
| South Asian | 0.0018 | 0.0018 | notable |
| Other | 0.0039 | 0.0039 | notable |
dbNSFP Gene Annotations
Source:
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.283
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |