Symbol
| SLC10A2
| contributors: mctnpt - updated : 09-10-2018
|
HGNC name
| solute carrier family 10 (sodium/bile acid cotransporter family), member 2
|
HGNC id
| 10906
|
corresponding disease(s)
|
PBAM
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
|  
|  
| loss of function
|
might lead to some diseases associated with disorders in the enterohepatic circulation of bile acids (BAs) and cholesterol homeostasis, such as diarrhoea and gallstones | constitutional
|  
|  
| --other
|  
|
is aberrantly expressed in esophageal metaplasia that also expresses CDX transcription factors (pMID: 22016432) | constitutional
|  
|  
| --over
|  
|
play a crucial role in Necrotizing enterocolitis (NEC) pathogenesis, suggesting that inhibition of SLC10A2 could be utilized as a therapeutic modality against this disease | |
Variant & Polymorphism
other
| haplotype carriers with the minor allele showed significant reduced SLC10A2 mRNA and protein expressions (Renner 2009) |
|
|
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
digestive | | | |
inhibition of SLC10A2 could be utilized as a therapeutic modality against Necrotizing enterocolitis (NEC) |
| | | |
| Asbt-deficient mice had a striking, 2-fold increase in the number of colon adenocarcinomas |