TMEM144
protein-codingtransmembrane protein 144
Gene summary
Predicted to enable carbohydrate transmembrane transporter activity. Predicted to be involved in carbohydrate transmembrane transport. Predicted to be located in membrane. [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 ~53.8 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 TMEM144 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_018342.5. 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 | 1 | 1 | ||||
| missense | 53 | 53 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 56 | 0 | 0 | 56 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_060812.2 | 11 | MANE Select | |
| Ensembl | ENSP00000296529.6 | 11 | MANE Select | |
| Ensembl | ENSP00000425907.1 | 2 | Standard | |
| Ensembl | ENSP00000420990.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- carbohydrate transmembrane transport
Molecular Function
- carbohydrate transmembrane transporter activity
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000296529
- Coding exons
- 11
- Length
- 53808
- Individuals with no LoFs
- 125339
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 408
- Defined
- 125748
- p
- 0.00163
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0998 | 184 | 180 | 1.02 | 0.00000810 | 2253 |
| Missense (PolyPhen) | 42 | 46.511 | 0.90302 | 601 | ||
| Synonymous | -1.23 | 72 | 59.9 | 1.20 | 0.00000283 | 646 |
| Loss of Function | 0.388 | 17 | 18.8 | 0.904 | 7.99e-7 | 230 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00055 | 0.00055 | rare |
| Latino/Admixed American | 0.00043 | 0.00043 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.0014 | 0.0014 | notable |
| Finnish | 0.00060 | 0.00060 | rare |
| European (Non-Finnish) | 0.0026 | 0.0026 | notable |
| South Asian | 0.0012 | 0.0012 | notable |
| Other | 0.0016 | 0.0016 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.818
- RVIS EVS
- 0.22
- RVIS percentile EVS
- 68.13
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.241
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |