SLC10A2 (solute carrier family 10 member 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6555
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 10 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC10A2
Synonyms (NCBI Gene) Gene synonyms aliases
ASBT, IBAT, ISBT, NTCP2, PBAM, PBAM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PBAM1
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs56398830 G>A,T Conflicting-interpretations-of-pathogenicity, benign-likely-benign Missense variant, coding sequence variant
rs61966074 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs72547505 G>A,T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs112657170 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121917848 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(53)
miRTarBase ID miRNA Experiments Reference
MIRT1351621 hsa-miR-1184 CLIP-seq
MIRT1351622 hsa-miR-1237 CLIP-seq
MIRT1351623 hsa-miR-1301 CLIP-seq
MIRT1351624 hsa-miR-138 CLIP-seq
MIRT1351625 hsa-miR-186 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
FOS Repression 12454857
NR3C1 Unknown 14684580
NR5A2 Unknown 12456679
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 7592981
GO:0006814 Process Sodium ion transport IEA
GO:0008508 Function Bile acid:sodium symporter activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601295 10906 ENSG00000125255
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q12908
Protein name Ileal sodium/bile acid cotransporter (Apical sodium-dependent bile acid transporter) (ASBT) (Ileal Na(+)/bile acid cotransporter) (Ileal sodium-dependent bile acid transporter) (IBAT) (ISBT) (Na(+)-dependent ileal bile acid transporter) (Sodium/taurochola
Protein function Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine (PubMed:7592981, PubMed:9458785, PubMed:9856990). Transports various bile acids, unconjugated or conjugated, such as cholate and tauro
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01758 SBF 39 → 220 Sodium Bile acid symporter family Family
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in ileum and kidney, lower expression in cecum. {ECO:0000269|PubMed:9458785}.
Sequence 
MNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLALVMFSMGCNVEIKKFLG
HIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLIIGCCPGGTASNILAYWVD
GDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVIPYDNIGTSLVSLVVPVSIGM
FVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQSAWIIAPKLWIIGTIFPVAGYSL
GFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQLSFTPEELNVVFTFPLIYSIFQLAF
AAIFLGFYVAYKKCHGKNKAEIPESKENGTEPESSFYKANGGFQPDEK
Sequence length 348
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Bile secretion   Recycling of bile acids and salts
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Bile acid malabsorption Bile Acid Malabsorption, Primary, NON RARE IN EUROPE: Primary bile acid malabsorption 9109432 ClinVar
Bile Acid Malabsorption bile acid malabsorption, primary, 1 GenCC
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Gout Gout GWAS
Show/Hide Text Mining Associations (31)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 18644122
Alzheimer Disease Associate 27770636
Barrett Esophagus Associate 19174784, 22016432, 23687410
Bile Acid Malabsorption Primary Associate 28898457, 34192422
Bile acid synthesis defect congenital 2 Associate 34192422
Carcinoma Non Small Cell Lung Associate 29642873
Cholangitis Sclerosing Inhibit 28008998
Cholelithiasis Associate 19823678
Cholestasis Associate 16150853
Colonic Neoplasms Associate 32600423, 32788867, 33140821