TMEM179B
protein-codingtransmembrane protein 179B, the group of MicroRNA protein coding host genes
Gene summary
Located in nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.0 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 TMEM179B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_199337.3. 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 | 0 | |||||
| missense | 45 | 45 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 45 | 0 | 0 | 45 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_955369.1 | 5 | MANE Select | |
| Ensembl | ENSP00000333697.3 | 5 | MANE Select | |
| RefSeq | NP_001350528.1 | 4 | Standard | |
| RefSeq | NP_001350529.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neutrophil degranulation
- Innate Immune System
- Immune System
Biological Process
- neutrophil degranulation
Cellular Component
- nucleolus
- plasma membrane
- integral component of membrane
- nuclear speck
- secretory granule membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000333449
- Coding exons
- 5
- Length
- 2991
- Individuals with no LoFs
- 125660
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 87
- Defined
- 125748
- p
- 0.000350
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.843 | 145 | 119 | 1.22 | 0.00000615 | 1364 |
| Missense (PolyPhen) | 46 | 36.597 | 1.2569 | 484 | ||
| Synonymous | -0.617 | 57 | 51.4 | 1.11 | 0.00000255 | 488 |
| Loss of Function | 1.17 | 6 | 10.0 | 0.599 | 4.93e-7 | 110 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.0024 | 0.0024 | notable |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.0012 | 0.0012 | notable |
| European (Non-Finnish) | 0.00014 | 0.00014 | rare |
| South Asian | 0.00052 | 0.00049 | rare |
| Other | 0.00082 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0826
Intolerance Scores
- LoFtool
- 0.489
- RVIS EVS
- -0.16
- RVIS percentile EVS
- 41.25
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- 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 |