TMEM86B
protein-codingtransmembrane protein 86B
Gene summary
Enables D-lysine 5,6-aminomutase activity; alkenylglycerophosphocholine hydrolase activity; and identical protein binding activity. Involved in ether lipid metabolic process. Located in cytoplasm and 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 ~2.1 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 TMEM86B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173804.5. 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 | 41 | 1 | 42 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 2 | 0 | 43 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_776165.3 | 3 | MANE Select | |
| Ensembl | ENSP00000321038.3 | 3 | MANE Select | |
| RefSeq | NP_001358942.1 | 2 | Standard | |
| Ensembl | ENSP00000568013.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Ether lipid metabolism - Homo sapiens (human)
- Metabolism of lipids
- Metabolism
- Acyl chain remodelling of PC
- Glycerophospholipid biosynthesis
Biological Process
- phosphatidylcholine acyl-chain remodeling
- ether lipid metabolic process
Molecular Function
- protein binding
- ether hydrolase activity
- alkenylglycerophosphocholine hydrolase activity
- alkenylglycerophosphoethanolamine hydrolase activity
Cellular Component
- cytoplasm
- endoplasmic reticulum membrane
- membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000327042
- Coding exons
- 3
- Length
- 3641
- Individuals with no LoFs
- 125536
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 21
- Defined
- 125557
- p
- 0.0000836
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.576 | 148 | 130 | 1.14 | 0.00000794 | 1400 |
| Missense (PolyPhen) | 41 | 35.732 | 1.1474 | 469 | ||
| Synonymous | -1.24 | 79 | 66.2 | 1.19 | 0.00000481 | 488 |
| Loss of Function | -0.779 | 7 | 5.10 | 1.37 | 2.19e-7 | 53 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00081 | 0.00080 | rare |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000054 | 0.000053 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties. {ECO:0000269|PubMed:21515882}.;
Recessive Scores
- pRec
- 0.0968
Intolerance Scores
- LoFtool
- 0.683
- RVIS EVS
- 0.26
- RVIS percentile EVS
- 70.44
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0866
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |