TXNDC15
Thioredoxin Domain Containing 15
Gene Information Card
| Symbol | TXNDC15 |
|---|---|
| Full Name | Thioredoxin Domain Containing 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 79770 ncbi.nlm.nih.gov/gene/79770 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617744 |
| HGNC ID | 28319 |
| Aliases | FLJ22635, MKS15 |
Description
TXNDC15 encodes a thioredoxin domain-containing protein localized to the ciliary transition zone. It is involved in ciliogenesis and is required for proper ciliary function. Mutations in this gene are associated with Meckel syndrome type 15 (MKS15), a severe autosomal recessive ciliopathy characterized by renal cysts, encephalocele, and polydactyly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meckel syndrome type 15 (MKS15) | Loss-of-function mutations in TXNDC15 disrupt ciliary transition zone assembly, impairing ciliary signaling and leading to developmental defects. | OMIM #617744; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.1 | Low |
| Brain | 6.5 | Low |
| Liver | 4.2 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| HepG2 | 5.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.550_551del (p.Leu184Glufs*2) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants cause loss of TXNDC15 function, leading to ciliary defects and Meckel syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Ciliary transition zone |
| • Protein binding | • Thioredoxin domain |
Pathways
• Ciliopathy pathway
• Ciliary transition zone assembly
Protein Summary
TXNDC15 is a 305-amino acid protein containing a thioredoxin-like domain. It localizes to the ciliary transition zone and interacts with other MKS complex proteins to regulate ciliogenesis. Loss of function leads to Meckel syndrome type 15.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNDC15 Knockout HEK293 Cell Line | EDJ-KQ15994 | Human | 79770 | Details Get a Quote |
| TXNDC15 Knockout HeLa Cell Line | EDJ-KQ45832 | Human | 79770 | Details Get a Quote |
| TXNDC15 Knockout A-549 Cell Line | EDJ-KQ47046 | Human | 79770 | Details Get a Quote |
| TXNDC15 Knockout HCT 116 Cell Line | EDJ-KQ47047 | Human | 79770 | Details Get a Quote |
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