TMEM260: Transmembrane Protein 260
A gene encoding a transmembrane protein implicated in congenital heart disease and ciliopathy phenotypes
Gene Information Card
| Symbol | TMEM260 |
|---|---|
| Full Name | transmembrane protein 260 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 54916 ncbi.nlm.nih.gov/gene/54916 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q9NX78 |
| OMIM ID | 617449 |
| HGNC ID | 26118 |
| Aliases | C14orf101, FLJ22169, MGC131851 |
Description
TMEM260 encodes a transmembrane protein of unknown function, predicted to localize to the cell membrane or intracellular vesicles. The gene is evolutionarily conserved and expressed in multiple tissues. Mutations in TMEM260 have been associated with congenital heart disease and ciliopathy-related phenotypes, suggesting a role in developmental signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (CHD) | Loss-of-function mutations in TMEM260 disrupt cardiac development, possibly via ciliary dysfunction | PMID: 30595372 |
| Ciliopathy (e.g., Joubert syndrome-like) | TMEM260 variants impair ciliary protein trafficking or signaling | PMID: 30595372 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Kidney | 12.1 | Medium |
| Liver | 6.3 | Low |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | RNA-seq data |
| K562 | 7.2 | RNA-seq data |
| HepG2 | 5.1 | RNA-seq data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with CHD |
| c.567_568del (p.Leu190fs) | Frameshift | Rare | Loss of function; ciliopathy phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • protein binding |
| • membrane |
Pathways
• Cilium assembly
• Hedgehog signaling pathway (predicted)
Protein Summary
TMEM260 is a 260-amino-acid transmembrane protein with multiple predicted membrane-spanning domains. Its exact function is unknown, but it is thought to participate in ciliary transport or signaling. Structural predictions suggest a role in vesicle-mediated trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM260 Knockout HEK293 Cell Line | EDJ-KQ15841 | Human | 54916 | Details Get a Quote |
| TMEM260 Knockout A-549 Cell Line | EDJ-KQ49055 | Human | 54916 | Details Get a Quote |
| TMEM260 Knockout HCT 116 Cell Line | EDJ-KQ49056 | Human | 54916 | Details Get a Quote |
| TMEM260 Knockout HeLa Cell Line | EDJ-KQ49057 | Human | 54916 | Details Get a Quote |
