TULP2
TUB like protein 2
Gene Information Card
| Symbol | TULP2 |
|---|---|
| Full Name | TUB like protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 7288 ncbi.nlm.nih.gov/gene/7288 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | O00254 |
| OMIM ID | 602387 |
| HGNC ID | 12424 |
| Aliases | TUBL2, TUBL-2 |
Description
TULP2 (TUB like protein 2) is a protein-coding gene belonging to the tubby-like gene family. It is primarily expressed in the testis and retina. The encoded protein may play a role in signal transduction and cellular trafficking. Mutations in TULP2 have been associated with retinal degeneration, though its precise function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss of function due to mutations in TULP2 may disrupt photoreceptor cell maintenance or signaling. | OMIM #602387; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Retina | 8.7 | Low |
| Brain | 1.3 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 3.4 | Low expression |
| NTERA-2 (testicular embryonal carcinoma) | 12.1 | Medium expression |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Ter) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.287G>A (p.Arg96Gln) | Missense | Rare | Uncertain significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg35Ter) lead to truncated protein and loss of function, linked to retinal degeneration.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TULP2.
Dominant Negative (DN)
No evidence of dominant-negative effects for TULP2.
View complete mutation data：
Gene Ontology (GO)
| • signal transduction | • photoreceptor cell maintenance |
| • protein localization | • cytoplasm |
| • nucleus |
Pathways
• Tubby signaling pathway
• Retinal metabolism
Protein Summary
TULP2 encodes a 442-amino acid protein with a conserved tubby domain. The protein is localized to the cytoplasm and nucleus, and is thought to participate in G-protein-coupled receptor signaling and intracellular trafficking. It is highly expressed in testis and retina, suggesting roles in spermatogenesis and vision.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TULP2 Knockout HEK293 Cell Line | EDJ-KQ5982 | Human | 7288 | Details Get a Quote |
| TULP2 Knockout HeLa Cell Line | EDJ-KQ54708 | Human | 7288 | Details Get a Quote |
| TULP2 Knockout A-549 Cell Line | EDJ-KQ63196 | Human | 7288 | Details Get a Quote |
| TULP2 Knockout HCT 116 Cell Line | EDJ-KQ71667 | Human | 7288 | Details Get a Quote |
