TMEM151A
protein-codingtransmembrane protein 151A
Gene summary
Located in endoplasmic reticulum and membrane. Implicated in episodic kinesigenic dyskinesia 3. [provided by Alliance of Genome Resources, Jul 2025]
- TMEM151
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0859380
Submitter: Ambry Genetics
Inheritance Pattern: AD
Disease ID:MONDO:0859380
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0044202
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Neurologic
Intervention: General
Rationale: The condition involves episodic involuntary movements, and medical management (eg, with carbamazepine or lamotrigine) has been described as beneficial
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TMEM151A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_153266.4. 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 | 3 | 3 | ||||
| missense | 4 | 1 | 74 | 4 | 83 | |
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 3 | 1 | 4 | |||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 9 | 2 | 74 | 7 | 0 | 92 |
Highest pathogenic variant AF is 0.000015019788
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_694998.1 | 2 | MANE Select | |
| Ensembl | ENSP00000326244.4 | 2 | MANE Select | |
| Ensembl | ENSP00000807025.1 | 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
- ENST00000327259
- Coding exons
- 2
- Length
- 4795
- Individuals with no LoFs
- 124639
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 11
- Defined
- 124650
- p
- 0.0000441
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.67 | 179 | 311 | 0.575 | 0.0000244 | 2849 |
| Missense (PolyPhen) | 54 | 131.68 | 0.4101 | 1236 | ||
| Synonymous | 2.77 | 114 | 158 | 0.720 | 0.0000141 | 1008 |
| Loss of Function | 1.71 | 6 | 12.6 | 0.478 | 5.40e-7 | 135 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000060 | 0.000054 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.612
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |