Abcg5 MGI Mouse Gene Detail - MGI:1351659 - ATP binding cassette subfamily G member 5

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Abcg5 Gene Detail

Symbol

Abcg5
Name

ATP binding cassette subfamily G member 5
Synonyms

cmp, Sterolin-1, tac, trac

Feature Type

protein coding gene
IDs

MGI:1351659
NCBI Gene: 27409
Alliance

gene page
Transcription Start Sites

4 TSS
Candidate for QTL

5 QTL

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Sequence Map

Chr17:84965662-84990439 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 55.02 cM
Mapping Data

8 experiments

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SNPs within 2kb

301 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1351659	protein coding gene	Chr17:84965602-84990439 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024081	protein coding gene	Chr17:87835898-87863923 (-)
A/J	MGP_AJ_G0024040	protein coding gene	Chr17:85046982-85071702 (-)
AKR/J	MGP_AKRJ_G0024009	protein coding gene	Chr17:86437203-86464078 (-)
BALB/cJ	MGP_BALBcJ_G0024041	protein coding gene	Chr17:84897979-84923030 (-)
C3H/HeJ	MGP_C3HHeJ_G0023806	protein coding gene	Chr17:87283992-87308649 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024486	protein coding gene	Chr17:90951431-90976891 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021925	protein coding gene	Chr17:80252603-80276514 (-)
CAST/EiJ	MGP_CASTEiJ_G0023285	protein coding gene	Chr17:88073910-88104901 (-)
CBA/J	MGP_CBAJ_G0023780	protein coding gene	Chr17:94701786-94733325 (-)
DBA/2J	MGP_DBA2J_G0023908	protein coding gene	Chr17:83527691-83552439 (-)
FVB/NJ	MGP_FVBNJ_G0023874	protein coding gene	Chr17:83010290-83036829 (-)
LP/J	MGP_LPJ_G0023992	protein coding gene	Chr17:88600103-88626335 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023902	protein coding gene	Chr17:94783352-94809285 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024531	protein coding gene	Chr17:86922746-86953731 (-)
PWK/PhJ	MGP_PWKPhJ_G0023030	protein coding gene	Chr17:83100649-83127583 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022841	protein coding gene	Chr17:83735304-83760943 (-)
WSB/EiJ	MGP_WSBEiJ_G0023351	protein coding gene	Chr17:87794325-87819341 (-)

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Human Ortholog

ABCG5, ATP binding cassette subfamily G member 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCG5, ATP binding cassette subfamily G member 5
Synonyms

STSL, STSL2
Links

HGNC:13886

NCBI Gene ID: 64240

neXtProt AC: NX_Q9H222

UniProt: Q9H222
Chr Location

2p21; chr2:43806211-43839231 (-) GRCh38

MGI Vertebrate Homology

Abcg5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABCG5
Gene Tree

Abcg5

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Diseases

2 with human ABCG5 associations

				Human Disease	Mouse Models
				arteriosclerosis IDs arteriosclerosis DOID:2349 ICD10CM:I70 MESH:D001161 NCI:C34398 UMLS_CUI:C0003850
				sitosterolemia IDs sitosterolemia DOID:0090019 MESH:C537345 NCI:C125694 OMIM:210250 ORDO:2882 UMLS_CUI:C0342907

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

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Phenotype Summary

45 phenotypes from 2 alleles in 3 genetic backgrounds
12 phenotypes from multigenic genotypes
31 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

9
Endonuclease-mediated

3
Spontaneous

1
Targeted

5
Genomic Mutations

1 involving Abcg5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death.

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All GO Annotations

44
GO References

11

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	non-membrane-bounded 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

845
Tissues

100
cDNA Data

17
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase abcg5

ZFIN abcg5

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All Sequences

40
RefSeq

2
UniProt

3
CCDS

CCDS29001.1

Ensembl

ENSMUSG00000040505 (Evidence)
NCBI Gene

27409

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000040505	Ensembl Gene Model \| MGI Sequence Detail	24778	C57BL/6J	± kb
	transcript	ENSMUST00000066175	Ensembl \| MGI Sequence Detail	2351	Not Applicable
	polypeptide	ENSMUSP00000069495	Ensembl \| MGI Sequence Detail	652	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003572 ATP-binding cassette sub-family G member 5

(term hierarchy)
EC

7.6.2.-
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR013525 ABC-2 type transporter, transmembrane domain

IPR043926 ABC transporter family G domain

IPR003439 ABC transporter-like, ATP-binding domain

IPR017871 ABC transporter-like, conserved site

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 18

cDNA 17

Primer pair 1

Microarray probesets 3

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MGI:2147047, MGI:2156894

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Summaries

All 82

Developmental Gene Expression 4

Gene Ontology 11

Phenotypes 31
Earliest

J:72524 Lu K, et al., Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001 Aug;69(2):278-90
Latest

J:312902 Ge H, et al., Phytosterol accumulation results in ventricular arrhythmia, impaired cardiac function and death in mice. Sci Rep. 2021 Aug 31;11(1):17449

TSS for Abcg5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr149692	Chr17:84990360-84990372 (-)	73 bp
Tssr149691	Chr17:84990313-84990342 (-)	111 bp
Tssr149690	Chr17:84990299-84990310 (-)	134 bp
Tssr149689	Chr17:84984390-84984393 (-)	6,047 bp

Abcg5 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Hdl4	Chr17, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Hdl4 (32.3 cM) on mouse Chromosome 17 as identified by ExQuest are Gnmt, Lrg1, and Sepx1 (10 cM). For QTL Insq5 (56.7 cM), potential candidate gene Abcg5 (54.5 cM) was identified. For QTL Obq4 (4 cM) and Wta4 (17 cM), potential candidate genes Plg (7.3 cM), Acat2 (7.55 cM), Acat3 (7.55 cM), Hagh (11 cM), Igfals, Decr2, Clps (17.1 cM), Tff1 (17 cM), Tff2 (17 cM), Tff3 (17 cM), and Apom were identified. Tff3 exhibits almost undetectable levels of transcription in the liver of Tally Ho animals compared C57BL/6J.
Insq5	Chr17, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Hdl4 (32.3 cM) on mouse Chromosome 17 as identified by ExQuest are Gnmt, Lrg1, and Sepx1 (10 cM). For QTL Insq5 (56.7 cM), potential candidate gene Abcg5 (54.5 cM) was identified. For QTL Obq4 (4 cM) and Wta4 (17 cM), potential candidate genes Plg (7.3 cM), Acat2 (7.55 cM), Acat3 (7.55 cM), Hagh (11 cM), Igfals, Decr2, Clps (17.1 cM), Tff1 (17 cM), Tff2 (17 cM), Tff3 (17 cM), and Apom were identified. Tff3 exhibits almost undetectable levels of transcription in the liver of Tally Ho animals compared C57BL/6J.
Lith9	Chr17, 60.67 cM	Chr17:84965662-84990439	J:97424	An initial genome scan was performed with 186 (PERA/EiJ x DBA/2J) F2 animals using 98 SSLP markers at a resolution of 17.1 cM. Parental strain PERA/EiJ is resistant to gallstone formation after 8 weeks on a high fat diet where as parental strain DBA/2J is susceptible. Animals were fed a high fat diet starting at 6-8 weeks of age. After candidate loci were identified an addition set of 93 F2 animals were genotyped at selected regions. This dataset was combined with a previous PERA/EiJ x I/LnJ dataset for additional analysis. The Chr 17 QTL, Lith9, did not exceed the threshold for suggestive QTL in the PERA/EiJ x DBA/2J cross but acheived a LOD score of 5.8 at 52cM in the combined data analysis. Abcg5 (54.5 cM)and Abcg8 (54.5 cM) on mouse Chromosome 17have been proposed as candidate genes for Lith9. Expression analysis showed higher levels of Abcg5 and Abcg8 mRNA in PERA/EiJ animals compared to DBA/2J and I/LnJ. As expected Abcg5 and Abcg8 mRNA levels didnot differ between DBA/2J and I/LnJ.
Obq4	Chr17, 4.92 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Hdl4 (32.3 cM) on mouse Chromosome 17 as identified by ExQuest are Gnmt, Lrg1, and Sepx1 (10 cM). For QTL Insq5 (56.7 cM), potential candidate gene Abcg5 (54.5 cM) was identified. For QTL Obq4 (4 cM) and Wta4 (17 cM), potential candidate genes Plg (7.3 cM), Acat2 (7.55 cM), Acat3 (7.55 cM), Hagh (11 cM), Igfals, Decr2, Clps (17.1 cM), Tff1 (17 cM), Tff2 (17 cM), Tff3 (17 cM), and Apom were identified. Tff3 exhibits almost undetectable levels of transcription in the liver of Tally Ho animals compared C57BL/6J.
Wta4	Chr17, 17.98 cM	Chr17:33819721-33819843	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Hdl4 (32.3 cM) on mouse Chromosome 17 as identified by ExQuest are Gnmt, Lrg1, and Sepx1 (10 cM). For QTL Insq5 (56.7 cM), potential candidate gene Abcg5 (54.5 cM) was identified. For QTL Obq4 (4 cM) and Wta4 (17 cM), potential candidate genes Plg (7.3 cM), Acat2 (7.55 cM), Acat3 (7.55 cM), Hagh (11 cM), Igfals, Decr2, Clps (17.1 cM), Tff1 (17 cM), Tff2 (17 cM), Tff3 (17 cM), and Apom were identified. Tff3 exhibits almost undetectable levels of transcription in the liver of Tally Ho animals compared C57BL/6J.

*cM position of peak correlated region/marker

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