TMCC3: Transmembrane and Coiled-Coil Domain Family 3
A gene encoding a transmembrane protein with coiled-coil domains, implicated in cellular trafficking and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | TMCC3 |
|---|---|
| Full Name | Transmembrane and Coiled-Coil Domain Family 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 57458 ncbi.nlm.nih.gov/gene/57458 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9BQJ4 |
| OMIM ID | 617789 |
| HGNC ID | 29199 |
| Aliases | FLJ11029, MGC131851 |
Description
TMCC3 (Transmembrane and Coiled-Coil Domain Family 3) is a protein-coding gene located on chromosome 12q22. The encoded protein contains transmembrane domains and coiled-coil regions, suggesting a role in membrane-associated processes such as vesicle trafficking and cellular organization. TMCC3 is expressed in various tissues and has been linked to cancer progression and neurological conditions through genomic studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect cell proliferation and migration; specific mechanisms under investigation. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Potential involvement in neuronal development; evidence from rare variant studies. | ClinVar lists variants of uncertain significance in patients with developmental delay. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells; moderate expression |
| HeLa | 7.2 | Cervical cancer cells; low expression |
| SH-SY5Y | 11.4 | Neuroblastoma cells; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.1423G>A (p.Glu475Lys) | Missense | 0.005% (gnomAD) | Unknown; predicted benign |
| c.1876_1877insA (p.Leu626HisfsTer12) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations currently reported.
Dominant Negative (DN)
No evidence of dominant-negative effects currently reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • protein binding (GO:0005515) |
| • intracellular protein transport (GO:0006886) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• No specific pathways curated in Reactome or KEGG for TMCC3.
Protein Summary
The TMCC3 protein (UniProt Q9BQJ4) is a 726-amino acid transmembrane protein with multiple coiled-coil domains. It localizes to the perinuclear region and is involved in intracellular trafficking. Structural predictions indicate three transmembrane helices and a cytoplasmic C-terminal domain. The protein is conserved in vertebrates and may interact with components of the endomembrane system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMCC3 Knockout HEK293 Cell Line | EDJ-KQ15754 | Human | 57458 | Details Get a Quote |
| TMCC3 Knockout HCT 116 Cell Line | EDJ-KQ46686 | Human | 57458 | Details Get a Quote |
| TMCC3 Knockout HeLa Cell Line | EDJ-KQ56840 | Human | 57458 | Details Get a Quote |
| TMCC3 Knockout A-549 Cell Line | EDJ-KQ65351 | Human | 57458 | Details Get a Quote |
