Gene/Proteome Database (LMPD)
LMPD ID
LMP002851
Gene ID
Species
Homo sapiens (Human)
Gene Name
solute carrier family 10 (sodium/bile acid cotransporter), member 2
Gene Symbol
Synonyms
ASBT; IBAT; ISBT; NTCP2; PBAM
Alternate Names
ileal sodium/bile acid cotransporter; Na(+)-dependent ileal bile acid transporter; ileal sodium-dependent bile acid transporter; ileal apical sodium-dependent bile acid transporter; sodium/taurocholate cotransporting polypeptide, ileal; solute carrier family 10 (sodium/bile acid cotransporter family), member 2
Chromosome
13
Map Location
13q33
Summary
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 critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
Orthologs
Proteins
| ileal sodium/bile acid cotransporter | |
|---|---|
| Refseq ID | NP_000443 |
| Protein GI | 4506973 |
| UniProt ID | Q12908 |
| mRNA ID | NM_000452 |
| Length | 348 |
| RefSeq Status | REVIEWED |
| MNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLALVMFSMGCNVEIKKFLGHIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLIIGCCPGGTASNILAYWVDGDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVIPYDNIGTSLVALVVPVSIGMFVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQSAWIIAPKLWIIGTIFPVAGYSLGFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQLSFTPEELNVVFTFPLIYSIFQLAFAAIFLGFYVAYKKCHGKNKAEIPESKENGTEPESSFYKANGGFQPDEK | |
Gene Information
Entrez Gene ID
Gene Name
solute carrier family 10 (sodium/bile acid cotransporter), member 2
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0016324 | IEA:Ensembl | C | apical plasma membrane |
| GO:0005887 | TAS:ProtInc | C | integral component of plasma membrane |
| GO:0005902 | IEA:Ensembl | C | microvillus |
| GO:0005634 | IEA:Ensembl | C | nucleus |
| GO:0005886 | TAS:Reactome | C | plasma membrane |
| GO:0000502 | IEA:Ensembl | C | proteasome complex |
| GO:0008508 | TAS:ProtInc | F | bile acid:sodium symporter activity |
| GO:0015721 | TAS:Reactome | P | bile acid and bile salt transport |
| GO:0008206 | TAS:Reactome | P | bile acid metabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006810 | TAS:ProtInc | P | transport |
KEGG Pathway Links
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_11040 | Bile acid and bile salt metabolism |
| REACT_11042 | Recycling of bile acids and salts |
Domain Information
UniProt Annotations
Entry Information
Gene Name
solute carrier family 10 (sodium/bile acid cotransporter), member 2
Protein Entry
NTCP2_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Disease | Primary bile acid malabsorption (PBAM) [MIM |
| Function | Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism. |
| Similarity | Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. |
| Subcellular Location | Membrane; Multi-pass membrane protein. |
| Subunit | Monomer and homodimer. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002851 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4506973 | RefSeq | NP_000443 | 348 | ileal sodium/bile acid cotransporter |
Identical Sequences to LMP002851 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4506973 | GenBank | ADR82931.1 | 348 | solute carrier family 10 (sodium/bile acid cotransporter family), member 2, partial [synthetic construct] |
| GI:4506973 | GenBank | ADS13343.1 | 348 | Sequence 173 from patent US 7754856 |
| GI:4506973 | GenBank | AFO05914.1 | 348 | Sequence 552 from patent US 8216786 |
| GI:4506973 | GenBank | AGD01589.1 | 348 | Sequence 1112 from patent US 8338124 |
| GI:4506973 | GenBank | AHE02305.1 | 348 | Sequence 60659 from patent US 8586006 |
| GI:4506973 | GenBank | AIC49741.1 | 348 | SLC10A2, partial [synthetic construct] |
Related Sequences to LMP002851 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4506973 | GenBank | ACM84055.1 | 373 | Sequence 9553 from patent US 6812339 |
| GI:4506973 | RefSeq | XP_522716.2 | 348 | PREDICTED: ileal sodium/bile acid cotransporter [Pan troglodytes] |
| GI:4506973 | RefSeq | XP_003270211.1 | 348 | PREDICTED: ileal sodium/bile acid cotransporter [Nomascus leucogenys] |
| GI:4506973 | RefSeq | XP_003832114.1 | 348 | PREDICTED: ileal sodium/bile acid cotransporter [Pan paniscus] |
| GI:4506973 | RefSeq | XP_004054763.1 | 348 | PREDICTED: ileal sodium/bile acid cotransporter [Gorilla gorilla gorilla] |
| GI:4506973 | SwissProt | Q12908.2 | 348 | RecName: Full=Ileal sodium/bile acid cotransporter; AltName: Full=Apical sodium-dependent bile acid transporter; Short=ASBT; AltName: Full=Ileal Na(+)/bile acid cotransporter; AltName: Full=Ileal sodium-dependent bile acid transporter; Short=IBAT; Short=ISBT; AltName: Full=Na(+)-dependent ileal bile acid transporter; AltName: Full=Sodium/taurocholate cotransporting polypeptide, ileal; AltName: Full=Solute carrier family 10 member 2 [Homo sapiens] |