Mus musculus Gene: Abcc8 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-185238.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Abcc8 | ||||||||||||||||||||||
Gene Name | ATP-binding cassette, sub-family C (CFTR/MRP), member 8 | ||||||||||||||||||||||
Synonyms | D930031B21Rik; Sur; SUR1 | ||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Gene | ENSMUSG00000040136 | ||||||||||||||||||||||
Encoded Proteins |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000006071:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 7:46104523-46180033 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | B3 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME | |||||||||||||||||||||||
KEGG |
Type II diabetes mellitus pathway
ABC transporters pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
ABC-family proteins mediated transport pathway
ATP sensitive Potassium channels pathway
Regulation of insulin secretion pathway
Integration of energy metabolism pathway
Transmembrane transport of small molecules pathway
Neuronal System pathway
Inwardly rectifying K+ channels pathway
Potassium Channels pathway
Metabolism pathway
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KEGG |
ABC transporters pathway
Type II diabetes mellitus pathway
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INOH | |||||||||||||||||||||||
PID NCI |
FOXA2 and FOXA3 transcription factor networks
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | B2RUS7 Q6PGE2 Q8BNE2 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 20927 | ||||||||||||||||||||||
UniGene | Mm.259076 Mm.481308 | ||||||||||||||||||||||
RefSeq | NM_011510 XM_006540749 XM_006540750 XM_006540751 XM_006540752 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS21275 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
MGI ID | MGI:1352629 | ||||||||||||||||||||||
MGI Symbol | Abcc8 | ||||||||||||||||||||||
EMBL | AC115036 AC120135 AK083916 BC057080 BC141411 CH466603 | ||||||||||||||||||||||
GenPept | AAH57080 AAI41412 BAC39060 EDL22919 | ||||||||||||||||||||||
RNA Seq Atlas | 20927 | ||||||||||||||||||||||