circRNA basic information
circBase ID: hsa_circ_0000118
Name: hsa_circ_MAN1A2
Synonym: circMAN1A2 / mmu_circ_001029
Host Gene: MAN1A2
Genomic location(hg19): chr1:117944807-117963271:+
Genomic location(hg38): chr1:117402185-117420649:+
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0004976
MONDO name: amyotrophic lateral sclerosis
Disease details: amyotrophic lateral sclerosis / ALS
Disease DO ID:
 332
Disease MeSH ID:
 D000690
Disease NCIt ID:
 C34373
Disease ICD11 ID:
 1982355687
Disease OMIM ID:
 -
Species: Human
Species details: Homo sapiens
Tissue specimen:

quadriceps; spinal cord
Cell lines:

-
In vivo animal model:

genetically engineered animal model
circRNA-disease information
Expression pattern:
DS
Associated gene: MAN1A2
Associated microRNA: -
Biological function: potential biomarker (suggested)
Molecular mechanism: circRNA/host-gene expression correlation (both spinal cord and quadriceps)
Biological pathway or process:

not specified
Detected method:
Q
Validation methods:

RT-qPCR
Clinical significance:

Potential biomarker of ALS or muscle damage (proposed)
Description:

circMAN1A2 is highly up-regulated in ALS quadriceps at terminal stage and correlates with its host gene in both spinal cord and quadriceps; it is also discussed as a potential biomarker of ALS or muscle damage.
Confidence score:

0.1155
Other information
Title:

Circular RNA expression in ALS is progressively deregulated and tissue-dependent.

Journal: BMC genomics
Published: 2025
PubMed ID: 40596818
Study type:

biological research
Data availability: -
Code availability: -