Abcb11 MGI Mouse Gene Detail - MGI:1351619 - ATP-binding cassette, sub-family B member 11

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Abcb11 Gene Detail

Symbol

Abcb11
Name

ATP-binding cassette, sub-family B member 11
Synonyms

ABC16, Bsep, Lith1, PFIC2, PGY4, sister of P-glycoprotein

Feature Type

protein coding gene
IDs

MGI:1351619
NCBI Gene: 27413
Alliance

gene page
Transcription Start Sites

3 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr2:69068626-69172958 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 39.69 cM
Mapping Data

10 experiments

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SNPs within 2kb

3279 from dbSNP Build 142
Strain Annotations

18
PCR

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1351619	protein coding gene	Chr2:69068626-69172960 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025797	protein coding gene	Chr2:69175014-69296645 (-)
A/J	MGP_AJ_G0025774	protein coding gene	Chr2:66514726-66626839 (-)
AKR/J	MGP_AKRJ_G0025743	protein coding gene	Chr2:68312934-68424278 (-)
BALB/cJ	MGP_BALBcJ_G0025769	protein coding gene	Chr2:66692858-66792715 (-)
C3H/HeJ	MGP_C3HHeJ_G0025529	protein coding gene	Chr2:68544216-68655588 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026216	protein coding gene	Chr2:71276197-71388128 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023619	protein coding gene	Chr2:63753376-63850734 (-)
CAST/EiJ	MGP_CASTEiJ_G0024993	protein coding gene	Chr2:68641788-68760019 (-)
CBA/J	MGP_CBAJ_G0025509	protein coding gene	Chr2:73876806-73996314 (-)
DBA/2J	MGP_DBA2J_G0025640	protein coding gene	Chr2:66156692-66266675 (-)
FVB/NJ	MGP_FVBNJ_G0025603	protein coding gene	Chr2:65533471-65637732 (-)
LP/J	MGP_LPJ_G0025729	protein coding gene	Chr2:69036698-69145367 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025632	protein coding gene	Chr2:75932013-76067922 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026273	protein coding gene	Chr2:68392120-68508725 (-)
PWK/PhJ	MGP_PWKPhJ_G0024734	protein coding gene	Chr2:65987359-66095356 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024541	protein coding gene	Chr2:68628967-68734615 (-)
WSB/EiJ	MGP_WSBEiJ_G0025061	protein coding gene	Chr2:68820341-68936692 (-)

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Human Ortholog

ABCB11, ATP binding cassette subfamily B member 11

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCB11, ATP binding cassette subfamily B member 11
Synonyms

ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
Links

HGNC:42

NCBI Gene ID: 8647

neXtProt AC: NX_O95342

UniProt: O95342
Chr Location

2q31.1; chr2:168915390-169031324 (-) GRCh38

MGI Vertebrate Homology

Abcb11 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ABCB11
Gene Tree

Abcb11

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Diseases

4 with human ABCB11 associations

				Human Disease	Mouse Models
				benign recurrent intrahepatic cholestasis 2 IDs benign recurrent intrahepatic cholestasis 2 DOID:0070232 MESH:C535934 OMIM:605479 ORDO:99961
				intrahepatic cholestasis IDs intrahepatic cholestasis DOID:1852 MESH:D002780 NCI:C84400 ORDO:284385 UMLS_CUI:C0008372
				liver cirrhosis IDs liver cirrhosis DOID:5082 EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 UMLS_CUI:C0023890
				progressive familial intrahepatic cholestasis 2 IDs progressive familial intrahepatic cholestasis 2 DOID:0070222 MESH:C535934 OMIM:601847 ORDO:79304 UMLS_CUI:C3489789

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

26 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
1 images
32 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

5
Transgenic

3
Genomic Mutations

1 involving Abcb11
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

95 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis.

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All GO Annotations

97
GO References

19

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

815
Tissues

99
cDNA Data

13
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase abcb11.2

ZFIN abcb11a, abcb11b

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All Sequences

42
RefSeq

6
UniProt

2
CCDS

CCDS16090.1

Ensembl

ENSMUSG00000027048 (Evidence)
NCBI Gene

27413

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000027048	Ensembl Gene Model \| MGI Sequence Detail	104333	C57BL/6J	± kb
	transcript	ENSMUST00000102710	Ensembl \| MGI Sequence Detail	4893	Not Applicable
	polypeptide	ENSMUSP00000099771	Ensembl \| MGI Sequence Detail	1321	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003549 bile salt export pump

(term hierarchy)
EC

7.6.2.-
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR003439 ABC transporter-like, ATP-binding domain

IPR017871 ABC transporter-like, conserved site

IPR011527 ABC transporter type 1, transmembrane domain

IPR036640 ABC transporter type 1, transmembrane domain superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR039421 Type 1 protein exporter
GlyGen

Q9QY30 4 sites

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All nucleic 19

Genomic 2

cDNA 13

Primer pair 4

Microarray probesets 3

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MGI:1341119

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Summaries

All 85

Developmental Gene Expression 4

Gene Ontology 19

Phenotypes 32
Earliest

J:54870 Lammert F, et al., Genetic mapping of Hepatocanalicular transporters establishes sister-p-glycoprotein (spgp) as a candidate for the major gallstone gene (Lith1). Hepatology. 1997;26:358A (Abstr.)
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Abcb11:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr24427	Chr2:69172948-69172968 (-)	0 bp
Tssr24426	Chr2:69172922-69172936 (-)	29 bp
Tssr24425	Chr2:69172902-69172914 (-)	50 bp

Abcb11 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Lith1	Chr2, 47.93 cM	Chr2:45347635-145312647	J:104062	Lith1 is a previously identified gallstone susceptibility QTL mapping to 41 cM on mouse Chromosome 2. Abcb11 at 38.4 cM colocalizes with Lith1 and is overexpressed in the gallstone-susceptible inbred strain C57/L compared to the gallstone-resistant inbred strain AKR/J. Authors evaluated animals carrying the Tg(RP23-291P1)1Flp transgene on an FVB/NJ genetic background to determine if Abcb11 overexpression accelerates gallstone formation. Male transgenic and FVB/NJ control animals were fed a lithogenic diet for up to 7 days. On the CHOW diet, Tg(RP23-291P1)1Flp transgenic animals and FVB/NJ controls did not develop cholesterol crsytals or gallstones. However, gallbladder bile from transgenic animals was significantly more hydrophobic compared to FVB/NJwild type controls. On day 4 of the lithogenic diet, 100% of transgenic animals exhibited bile cholesterol crystals and 25% had gallstones compared to 43% and 0%, respectively, of FVB/NJ controls. On day 7 of the lithogenic diet, 80% of transgenic animals had gallstones compared to 41% of FVB/NJ controls. These results support the hypothesis that overexpression of Abcb11 is responsible for the gallstone-susceptible effect of Lith1.
Lith1	Chr2, 47.93 cM	Chr2:45347635-145312647	J:88544	Abcb11, a candidate gene for Lith1 on mouse Chromosome 2, was examined in this study. Sequencing of Abcb11 failed to detect polymorphisms in the gene coding region between gallstone susceptible strain C57L/J and gallstone resistant strain AKR/J. Northernand Western blot analysis detected 3-fold increased mRNA and protein expression in C57L/J compared to AKR/J. However, Abcb11 transport function was decreased 9-fold in C57L/J compared to AKR/J. In addition, Abcb11-null mice display lithogenic bile. These results support the candidacy of Abcb11 as a candidate gene for Lith1.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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