circRNA basic information
circBase ID: hsa_circ_0001756
Name: hsa_circ_HIPK2
Synonym: circHIPK2
Host Gene: HIPK2
Genomic location(hg19): chr7:139415730-139416814:-
Genomic location(hg38): chr7:139715931-139717015:-
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: HIPK2
Associated microRNA: -
Biological function: potential biomarker (suggested)
Molecular mechanism: circRNA/host-gene expression correlation not significant
Biological pathway or process:

not specified
Detected method:
Q
Validation methods:

RT-qPCR
Clinical significance:

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

circHIPK2 increases in ALS quadriceps from P75 to P120 and is discussed as a potential biomarker; unlike many circRNAs, circHIPK2 did not show significant correlation with its host gene expression in the tested tissues.
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: -