TTLL2: Tubulin Tyrosine Ligase Like 2
A member of the tubulin tyrosine ligase family involved in post-translational modification of tubulin
Gene Information Card
| Symbol | TTLL2 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 83907 ncbi.nlm.nih.gov/gene/83907 |
| Ensembl ID | ENSG00000112110 |
| UniProt ID | Q8N6L1 |
| OMIM ID | 612009 |
| HGNC ID | 28907 |
| Aliases | C6orf102, FLJ22604 |
Description
TTLL2 (Tubulin Tyrosine Ligase Like 2) is a protein-coding gene that belongs to the tubulin tyrosine ligase (TTL) family. The encoded protein is involved in the post-translational glutamylation of tubulin, a modification that regulates microtubule stability and function. TTLL2 is expressed in various tissues and has been implicated in cellular processes such as cell division and intracellular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 5.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567delA (p.Lys189fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule (GO:0005874) |
| • tubulin binding (GO:0015631) | • tubulin-glutamic acid ligase activity (GO:0032456) |
| • microtubule polymerization (GO:0046785) |
Pathways
• ['Tubulin post-translational modification (glutamylation)']
• ['Microtubule cytoskeleton organization']
Protein Summary
The TTLL2 protein is a member of the tubulin tyrosine ligase-like family, which catalyzes the addition of glutamate side chains to tubulin. This glutamylation is a reversible post-translational modification that influences microtubule dynamics, stability, and interactions with motor proteins. TTLL2 is localized to the cytoplasm and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL2 Knockout HEK293 Cell Line | EDJ-KQ9929 | Human | 83887 | Details Get a Quote |
| TTLL2 Knockout HeLa Cell Line | EDJ-KQ57496 | Human | 83887 | Details Get a Quote |
| TTLL2 Knockout A-549 Cell Line | EDJ-KQ65999 | Human | 83887 | Details Get a Quote |
| TTLL2 Knockout HCT 116 Cell Line | EDJ-KQ74422 | Human | 83887 | Details Get a Quote |
