TTC7A
Tetratricopeptide Repeat Domain 7A
Gene Information Card
| Symbol | TTC7A |
|---|---|
| Full Name | Tetratricopeptide Repeat Domain 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 57217 ncbi.nlm.nih.gov/gene/57217 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9ULT0 |
| OMIM ID | 609332 |
| HGNC ID | 12383 |
| Aliases | TTC7, TTC7A, FLJ10895, MGC138290 |
Description
TTC7A encodes a protein containing tetratricopeptide repeats (TPR) that is involved in the regulation of the actin cytoskeleton and phosphatidylinositol 4-kinase (PI4K) activity. It plays a critical role in intestinal epithelial homeostasis and immune cell development. Mutations in TTC7A cause multiple intestinal atresia (MIA) and combined immunodeficiency (CID), often with severe gastrointestinal and immune defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Intestinal Atresia (MIA) | Loss-of-function mutations disrupt actin cytoskeleton and PI4K signaling, leading to impaired intestinal epithelial integrity and atresia. | ClinVar, OMIM |
| Combined Immunodeficiency (CID) | Defective TTC7A impairs lymphocyte development and function, causing recurrent infections. | ClinVar, OMIM |
| Inflammatory Bowel Disease (IBD)-like phenotype | Dysregulated intestinal epithelial barrier and immune response due to TTC7A deficiency. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 10.8 | Medium |
| Spleen | 8.2 | Low |
| Lymph node | 7.5 | Low |
| Thymus | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 12.1 | Cervical cancer cells |
| Jurkat | 9.8 | T-cell leukemia line |
| Caco-2 | 14.2 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70*) | Nonsense | Rare | Premature stop, loss of function |
| c.1000C>T (p.Arg334Trp) | Missense | Rare | Impaired protein stability and function |
| c.1684C>T (p.Arg562*) | Nonsense | Rare | Truncated protein, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most TTC7A mutations are loss-of-function, leading to reduced or absent protein activity, causing MIA and CID.
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)
| • actin cytoskeleton organization | • phosphatidylinositol phosphate biosynthetic process |
| • protein binding | • tetratricopeptide repeat domain binding |
Pathways
• Phosphatidylinositol signaling system
• Regulation of actin cytoskeleton
Protein Summary
TTC7A is a 90 kDa protein with multiple tetratricopeptide repeats that mediates protein-protein interactions. It regulates actin dynamics and PI4K activity, essential for intestinal epithelial cell polarity and immune cell migration. Defects lead to severe gastrointestinal and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTC7A Knockout HEK293 Cell Line | EDJ-KQ3745 | Human | 57217 | Details Get a Quote |
| TTC7A Knockout A-549 Cell Line | EDJ-KQ25813 | Human | 57217 | Details Get a Quote |
| TTC7A Knockout HCT 116 Cell Line | EDJ-KQ25814 | Human | 57217 | Details Get a Quote |
| TTC7A Knockout HeLa Cell Line | EDJ-KQ25815 | Human | 57217 | Details Get a Quote |
