circRNA basic information
circBase ID: hsa_circ_0006884
Name: hsa_circ_TIMMDC1
Synonym: circTIMMDC1
Host Gene: TIMMDC1
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: unclear
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0018309
MONDO name: Hirschsprung disease
Disease details: Hirschsprung's disease
Disease DO ID:
10487
Disease MeSH ID:
D006627
Disease NCIt ID:
C34700
Disease ICD11 ID:
1772690306
Disease OMIM ID:
-
Species: Human
Species details: Homo sapiens
Tissue specimen:

HSCR patient tissues; normoganglionic dilated colon segment; colonic enteric neurons

Cell lines:

SH-SY5Y

In vivo animal model:

other disease animal model

circRNA-disease information
Expression pattern:
DN
Associated gene: PROX1, NOTCH1, HES1, AGO2
Associated microRNA: miR-181b-5p
Biological function: Promotes human neural cell migration and ENCC migration and proliferation; knockdown impairs ENCC proliferation and migration.
Molecular mechanism: ceRNA mechanism: circTIMMDC1 sponges miR-181b-5p to regulate PROX1 and the NOTCH1/HES1 signaling pathway.
Biological pathway or process:

ceRNA regulation (promotes); Notch (inhibits); migration (promotes); proliferation (promotes)

Detected method:
Q
Validation methods:

RT-qPCR; FISH / smFISH; Clinical Sample Validation; Bioinformatics Analysis; Transfection; Wound Healing Assay; Transwell Assay; Luciferase Reporter Assay; RIP (RNA Immunoprecipitation); RNA Pull-Down; Western Blot; EdU Staining; In Vivo Animal Model

Clinical significance:

May act as a novel therapeutic target for HSCR.

Description:

circTIMMDC1 is downregulated in HSCR patient tissues. It promotes neural cell and ENCC migration and proliferation by sponging miR-181b-5p and modulating the PROX1-NOTCH1-HES1 axis, acting synergistically with circANKRD12 and suggesting potential therapeutic relevance in HSCR.

Confidence score:

0.7519

Other information
Title:

circANKRD12/circTIMMDC1 synergistically regulates enteric neural crest cell migration via miR-181b-5p-PROX1-NOTCH1 axis in Hirschsprung's disease.

Journal: Pediatric research
Published: 2025
PubMed ID: 40750918
Study type:

combined biological and clinical study

Data availability: Data supporting the findings of this work are available in the article/Supplementary Materials; GSE149524
Code availability: -