TMEM120A
protein-codingtransmembrane protein 120A
Gene summary
Enables coenzyme A binding activity. Involved in antiviral innate immune response; fat cell differentiation; and protein complex oligomerization. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~7.8 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 TMEM120A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_031925.3. 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 | 1 | 1 | 2 | |||
| missense | 60 | 1 | 61 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 10 | 10 | ||||
| Total | 0 | 0 | 71 | 2 | 0 | 73 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_114131.1 | 12 | MANE Select | |
| Ensembl | ENSP00000473983.1 | 12 | MANE Select | |
| RefSeq | NP_001304732.1 | 12 | Standard | |
| RefSeq | NP_001350391.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- fat cell differentiation
- protein homooligomerization
- protein heterooligomerization
Molecular Function
- molecular_function
Cellular Component
- cellular_component
- nuclear inner membrane
- integral component of membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Necessary for efficient adipogenesis (PubMed:26024229). {ECO:0000269|PubMed:26024229}.;
Recessive Scores
- pRec
- 0.109
Essentials
- Essential (CRISPR2)
- S
- Indispensability pred.
- N
- Indispensability score
- 0.318