SLC10A2

Protein identityUniProt · HPA

UniProt accession

Q12908

Gene

SLC10A2

Ensembl

ENSG00000125255

Chromosome

13

Canonical length

348 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters

Quaternary structure

Homodimer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>Q12908|SLC10A2
     1  MNDPNSCVDN ATVCSGASCV VPESNFNNIL SVVLSTVLTI LLALVMFSMG CNVEIKKFLG
    61  HIKRPWGICV GFLCQFGIMP LTGFILSVAF DILPLQAVVV LIIGCCPGGT ASNILAYWVD
   121  GDMDLSVSMT TCSTLLALGM MPLCLLIYTK MWVDSGSIVI PYDNIGTSLV SLVVPVSIGM
   181  FVNHKWPQKA KIILKIGSIA GAILIVLIAV VGGILYQSAW IIAPKLWIIG TIFPVAGYSL
   241  GFLLARIAGL PWYRCRTVAF ETGMQNTQLC STIVQLSFTP EELNVVFTFP LIYSIFQLAF
   301  AAIFLGFYVA YKKCHGKNKA EIPESKENGT EPESSFYKAN GGFQPDEK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC10A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

7

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

89 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC10A2.

Disease | AllUniProt

Conditions SLC10A2 is implicated in, by any mechanism.

• Bile acid malabsorption, primary, 1 (PBAM1) MIM:613291

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 418 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bile acid malabsorption, primary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.94

gnomAD pLI

0

gnomAD missense Z

-2.2

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bile acid and bile salt transport
• response to bacterium

Molecular functions

• bile acid:sodium symporter activity

Cellular components

• apical plasma membrane
• microvillus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Bile acid:sodium symporter/arsenical resistance protein Acr3
• Bile acid:sodium symporter
• Sodium/solute symporter superfamily
• Sodium Bile acid symporter family

KeywordsUniProt

• Glycoprotein
• Ion transport
• Lipid transport
• Membrane
• Phosphoprotein
• Sodium
• Sodium transport
• Symport
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC10A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLPTM1