Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6555
Gene name	Solute carrier family 10 member 2
Gene symbol	SLC10A2
Synonyms (NCBI Gene)	ASBTIBATISBTNTCP2PBAMPBAM1
Chromosome	13
Chromosome location	13q33.1
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

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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
rs141524545	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150970825	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190734512	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199553519	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments
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
MIRT1351626	hsa-miR-2355-3p	CLIP-seq
MIRT1351627	hsa-miR-3064-5p	CLIP-seq
MIRT1351628	hsa-miR-3133	CLIP-seq
MIRT1351629	hsa-miR-3151	CLIP-seq
MIRT1351630	hsa-miR-338-5p	CLIP-seq
MIRT1351631	hsa-miR-345	CLIP-seq
MIRT1351632	hsa-miR-3652	CLIP-seq
MIRT1351633	hsa-miR-4256	CLIP-seq
MIRT1351634	hsa-miR-4430	CLIP-seq
MIRT1351635	hsa-miR-4456	CLIP-seq
MIRT1351636	hsa-miR-4505	CLIP-seq
MIRT1351637	hsa-miR-4642	CLIP-seq
MIRT1351638	hsa-miR-4645-5p	CLIP-seq
MIRT1351639	hsa-miR-4646-3p	CLIP-seq
MIRT1351640	hsa-miR-4660	CLIP-seq
MIRT1351641	hsa-miR-4673	CLIP-seq
MIRT1351642	hsa-miR-4720-5p	CLIP-seq
MIRT1351643	hsa-miR-4799-3p	CLIP-seq
MIRT1351644	hsa-miR-5047	CLIP-seq
MIRT1351645	hsa-miR-541	CLIP-seq
MIRT1351646	hsa-miR-654-5p	CLIP-seq
MIRT1351622	hsa-miR-1237	CLIP-seq
MIRT1351624	hsa-miR-138	CLIP-seq
MIRT1351627	hsa-miR-3064-5p	CLIP-seq
MIRT1351629	hsa-miR-3151	CLIP-seq
MIRT1351631	hsa-miR-345	CLIP-seq
MIRT1351632	hsa-miR-3652	CLIP-seq
MIRT1351633	hsa-miR-4256	CLIP-seq
MIRT1351634	hsa-miR-4430	CLIP-seq
MIRT1351635	hsa-miR-4456	CLIP-seq
MIRT1351636	hsa-miR-4505	CLIP-seq
MIRT1351645	hsa-miR-541	CLIP-seq
MIRT1351646	hsa-miR-654-5p	CLIP-seq
MIRT1351621	hsa-miR-1184	CLIP-seq
MIRT1351623	hsa-miR-1301	CLIP-seq
MIRT1351626	hsa-miR-2355-3p	CLIP-seq
MIRT1351637	hsa-miR-4642	CLIP-seq
MIRT1351639	hsa-miR-4646-3p	CLIP-seq
MIRT1351640	hsa-miR-4660	CLIP-seq
MIRT1351642	hsa-miR-4720-5p	CLIP-seq
MIRT1351643	hsa-miR-4799-3p	CLIP-seq
MIRT1351644	hsa-miR-5047	CLIP-seq
MIRT2328392	hsa-miR-3120-3p	CLIP-seq
MIRT2328393	hsa-miR-3163	CLIP-seq
MIRT2328394	hsa-miR-323b-3p	CLIP-seq
MIRT2328395	hsa-miR-4310	CLIP-seq
MIRT2328396	hsa-miR-494	CLIP-seq
MIRT2328397	hsa-miR-600	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
FOS	Repression	12454857
NR3C1	Unknown	14684580
NR5A2	Unknown	12456679

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005886	Component	Plasma membrane	TAS	7592981, 9109432
GO:0005902	Component	Microvillus	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0008508	Function	Bile acid:sodium symporter activity	IBA
GO:0008508	Function	Bile acid:sodium symporter activity	TAS	9109432
GO:0009617	Process	Response to bacterium	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015721	Process	Bile acid and bile salt transport	IBA
GO:0015721	Process	Bile acid and bile salt transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
601295	10906	ENSG00000125255

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

	KEGG		Reactome
	Bile secretion		Recycling of bile acids and salts

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bile acid malabsorption, primary, 1	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs868711152, rs201206937, rs781456338, rs279940, rs8000956, rs143238545, rs1054582484, rs370438426, rs141838179, rs72547505, rs61966074, rs143297386, rs199553519, rs201133082, rs201341384, rs71640247 View all (1 more)	RCV001332468 RCV001332467 RCV005860385 RCV001807609 RCV001807610 RCV005397164 RCV002283682 RCV002283842 RCV005636745 RCV003984832 RCV000763872 RCV002491219 RCV000763873 RCV005392338 RCV002485943 RCV001332466
Cervical cancer	Uncertain significance	rs200511829	RCV005926456
SLC10A2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs200735895, rs145541774, rs141838179, rs763561405, rs766114543, rs138811603, rs771764484, rs199679714, rs1220309971, rs188025424, rs150703535, rs199940758, rs200023797, rs982174246, rs2501814126 View all (38 more)	RCV004750813 RCV004750827 RCV004750833 RCV003918931 RCV004750828 RCV003410114 RCV003973715 RCV003898904 RCV003898514 RCV003943512 RCV003418622 RCV003926591 RCV003898621 RCV004750794 RCV003412054 RCV003402728 RCV003414152 RCV003422494 RCV003919274 RCV003919353 RCV003896748 RCV003896845 RCV003982662 RCV003892238 RCV003893815 RCV003913948 RCV003944213 RCV003942193 RCV003897574 RCV003927926 RCV003945410 RCV003915727 RCV003980099 RCV003905547 RCV004751619 RCV003945427 RCV003980106 RCV004751620 RCV003962724 RCV003935625 RCV003945445 RCV003953295 RCV003928218 RCV004751683 RCV003892619 RCV003965514 RCV003965521 RCV003892629 RCV003947945 RCV004751688 RCV003955476 RCV003953406 RCV003953461

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Colorectal Neoplasms	Associate	32564470, 36890467
Crohn Disease	Inhibit	14684580
Diarrhea	Associate	25239307, 34192422
Esophagitis	Inhibit	23687410
Gallstones	Inhibit	16237211
Gallstones	Associate	19823678
Growth Disorders	Associate	34192422
Hyperlipoproteinemia Type IV	Associate	10974045
Hypertriglyceridemia	Associate	10974045, 29642873
Immunologic Deficiency Syndromes	Associate	34192422
Inflammation	Associate	15304498, 37315771
Inflammatory Bowel Diseases	Associate	19487253
Intrahepatic Cholestasis of Pregnancy	Associate	34638773
Liver Cirrhosis Biliary	Associate	30735608
Lung Neoplasms	Associate	29642873
Metaplasia	Associate	22016432
Neoplasms	Associate	18644122
Netherton Syndrome	Associate	16150853
Pruritus	Associate	30735608
Retinal Dysplasia	Inhibit	19174784
Stomach Neoplasms	Associate	38228846

SLC10A2 (solute carrier family 10 member 2)