TXLNG

Chr X

taxilin gamma

Also known as: CXorf15, ELRG, FIAT, LSR5, TXLNGX

NCBI Gene: 55787ENSG00000086712UniProt: Q9NUQ3OMIM: 300677

The protein binds to syntaxin family members and functions in intracellular vesicle trafficking, while also inhibiting ATF4-mediated transcription to regulate bone mass density and cell cycle progression. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and seizures. This gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.158), indicating mutations are likely highly deleterious.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.16
Clinical Summary— TXLNG
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.16LOEUF
pLI 0.998
Z-score 4.02
OE 0.00 (0.00–0.16)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.09Z-score
OE missense 0.98 (0.87–1.11)
181 obs / 184.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.16)
0≤0.351.4
Missense OE0.98 (0.87–1.11)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 0 / 18.8Missense obs/exp: 181 / 184.3Syn Z: -0.50
DN
0.4586th %ile
GOF
0.4283th %ile
LOF
0.73top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.16

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TXLNG · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identification of Potential Biomarkers for Group I Pulmonary Hypertension Based on Machine Learning and Bioinformatics Analysis
Hu H et al.·Int J Mol Sci
2023
Pemigatinib combined with immunotherapy and stereotactic body radiation therapy for FGFR2 fusion-positive advanced intrahepatic cholangiocarcinoma with brain metastasis: a Case Report
Guo J et al.·Front Pharmacol
2024Case report
Multiscale protein networks systematically identify aberrant protein interactions and oncogenic regulators in seven cancer types
Song WM et al.·J Hematol Oncol
2023
Human Sex Matters: Y-Linked Lysine Demethylase 5D Drives Accelerated Male Craniofacial Osteogenic Differentiation
Merten M et al.·Cells
2022
Gene fusion detection and characterization in long-read cancer transcriptome sequencing data with FusionSeeker
Chen Y et al.·Cancer Res
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of a novel microdeletion causative of Nance-Horan syndrome.
Lopez Martinolich M et al.·Mol Genet Genomic Med
2022Case report
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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