TMEM255B

Chr 13

transmembrane protein 255B

Also known as: FAM70B

NCBI Gene: 348013ENSG00000184497UniProt: Q8WV15

TMEM255B encodes a protein predicted to localize to cellular membranes, though its specific function remains unclear. The gene shows very low constraint against loss-of-function variants (high LOEUF score), suggesting it may tolerate complete loss of function. No established human diseases have been definitively linked to TMEM255B mutations in the medical literature.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
115
P/LP submissions
0%
P/LP missense
1.69
LOEUF
GOF
Mechanism· predicted
Clinical Summary— TMEM255B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
115 unique Pathogenic / Likely Pathogenic· 70 VUS of 210 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.69LOEUF
pLI 0.000
Z-score -0.45
OE 1.13 (0.76–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.18Z-score
OE missense 1.04 (0.92–1.16)
206 obs / 198.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.13 (0.76–1.69)
0≤0.351.4
Missense OE1.04 (0.92–1.16)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 16 / 14.2Missense obs/exp: 206 / 198.9Syn Z: -0.40
DN
0.6066th %ile
GOF
0.6735th %ile
LOF
0.4136th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

210 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic112
Likely Pathogenic3
VUS70
Likely Benign12
112
Pathogenic
3
Likely Pathogenic
70
VUS
12
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
112
0
112
Likely Pathogenic
0
0
3
0
3
VUS
0
55
15
0
70
Likely Benign
0
7
3
2
12
Benign
0
0
0
0
0
Total0621332197

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMEM255B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients