CORO7-PAM16 Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the CORO7-PAM16 readthrough transcript, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | CORO7-PAM16 |
|---|---|
| Full Name | CORO7-PAM16 readthrough transcript |
| Gene Type | Readthrough transcript (protein-coding) |
| Chromosomal Location | 16p13.3 (based on constituent genes CORO7 and PAM16) |
| NCBI Gene ID | 100526739 ncbi.nlm.nih.gov/gene/100526739 |
| Ensembl ID | ENSG00000267467 |
| UniProt ID | Q5JXX9 (CORO7); Q9Y3D7 (PAM16) |
| OMIM ID | Not assigned (constituent genes: CORO7: 610056; PAM16: 614336) |
| HGNC ID | 40079 (CORO7-PAM16); CORO7: 2510; PAM16: 29679 |
| Aliases | CORO7-PAM16 readthrough; CORO7-PAM16 fusion; CORO7-PAM16 transcript |
Description
CORO7-PAM16 is a naturally occurring readthrough transcript located on chromosome 16p13.3, produced by the fusion of the CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes. This readthrough event results in a chimeric mRNA that retains the coding sequence of both genes, potentially producing a fusion protein. The transcript is expressed in various tissues, with notable levels in the brain and testis. The constituent genes are involved in cytoskeletal organization (CORO7) and mitochondrial protein import (PAM16). Mutations in PAM16 are associated with the rare genetic disorder Megakaryocyte-associated liver disease (MEGDEL syndrome), while CORO7 has been implicated in cancer progression. The readthrough transcript may play a role in regulating the expression of its constituent genes or produce a novel protein with combined functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MEGDEL syndrome (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) | Mutations in PAM16, a constituent gene, impair mitochondrial protein import, leading to mitochondrial dysfunction and the clinical phenotype. The readthrough transcript may affect PAM16 expression or function. | OMIM: 614336; ClinVar: pathogenic variants in PAM16 |
| Cancer (potential) | CORO7 is involved in actin cytoskeleton dynamics and cell migration; dysregulation may contribute to tumor invasion and metastasis. The readthrough transcript may alter CORO7 expression or produce a fusion protein with oncogenic potential. | COSMIC: CORO7 mutations in various cancers; literature evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | ~10.2 | Medium |
| Testis | ~8.5 | Medium |
| Lung | ~5.3 | Low |
| Liver | ~3.1 | Low |
| Kidney | ~2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | ~4.5 | Detectable; moderate expression |
| K562 | ~2.3 | Low expression |
| MCF7 | ~6.1 | Moderate expression |
| HepG2 | ~3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) in PAM16 | Missense | Rare (MAF <0.01) | Pathogenic; associated with MEGDEL syndrome; impairs mitochondrial import |
| c.456C>T (p.Ser152Leu) in CORO7 | Missense | Rare (MAF <0.01) | Uncertain significance; potential impact on actin binding |
| c.789_790insA in CORO7 | Frameshift | Not reported in population databases | Likely loss-of-function; may affect protein function |
Mutation functional classification
Loss of Function (LOF)
Mutations in PAM16 that impair mitochondrial protein import lead to loss of function, causing mitochondrial dysfunction and MEGDEL syndrome. The readthrough transcript may be affected by such mutations, potentially reducing the production of functional fusion protein.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for CORO7-PAM16. However, the readthrough transcript itself may produce a novel fusion protein with altered or enhanced activity compared to the individual proteins.
Dominant Negative (DN)
In MEGDEL syndrome, some PAM16 mutations may exert a dominant-negative effect by interfering with the TIM23 complex assembly, although the inheritance is typically autosomal recessive. The readthrough transcript could potentially contribute to dominant-negative effects if the fusion protein disrupts normal protein interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial protein import (TIM23 complex) - PAM16 is a subunit
• Actin cytoskeleton regulation - CORO7 is involved in actin dynamics
• Cell migration and invasion - CORO7-related
Protein Summary
The CORO7-PAM16 readthrough transcript is predicted to produce a chimeric protein consisting of the N-terminal region of CORO7 (including the WD40 repeats and coiled-coil domains) fused to the C-terminal region of PAM16 (including the transmembrane domain and the J-domain). This fusion protein may localize to both the cytoplasm and mitochondria, potentially integrating actin-binding and mitochondrial import functions. However, the existence and functional significance of the fusion protein have not been experimentally validated. The readthrough transcript may also serve as a regulatory mechanism to modulate the expression of the individual genes through nonsense-mediated decay or translational coupling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CORO7-PAM16 Knockout HEK293 Cell Line | EDJ-KQ52493 | Human | 100529144 | Details Get a Quote |
| CORO7-PAM16 Knockout HeLa Cell Line | EDJ-KQ60956 | Human | 100529144 | Details Get a Quote |
| CORO7-PAM16 Knockout A-549 Cell Line | EDJ-KQ69431 | Human | 100529144 | Details Get a Quote |
| CORO7-PAM16 Knockout HCT 116 Cell Line | EDJ-KQ77782 | Human | 100529144 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
