Abca8b MGI Mouse Gene Detail - MGI:1351668 - ATP-binding cassette, sub-family A (ABC1), member 8b

Symbol

Abca8b
Name

ATP-binding cassette, sub-family A (ABC1), member 8b
Synonyms

Abca8

Feature Type

protein coding gene
IDs

MGI:1351668
NCBI Gene: 27404
Gene Overview

MyGene.info: ABCA8
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:109932568-109995840 bp, - strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 72.88 cM
Mapping Data

5 experiments

SNPs within 2kb

103 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1351668	protein coding gene	Chr11:109932190-109995845 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019340	protein coding gene	Chr11:113520097-113590246 (-)
A/J	MGP_AJ_G0019308	protein coding gene	Chr11:108623514-108687306 (-)
AKR/J	MGP_AKRJ_G0019277	protein coding gene	Chr11:111876996-111945360 (-)
BALB/cJ	MGP_BALBcJ_G0019282	protein coding gene	Chr11:109044215-109111769 (-)
C3H/HeJ	MGP_C3HHeJ_G0019091	protein coding gene	Chr11:112165063-112232600 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019732	protein coding gene	Chr11:116948294-117023072 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017355	protein coding gene	Chr11:105819926-105881652 (-)
CAST/EiJ	MGP_CASTEiJ_G0018644	protein coding gene	Chr11:113319198-113397208 (-)
CBA/J	MGP_CBAJ_G0019060	protein coding gene	Chr11:121789439-121857081 (-)
DBA/2J	MGP_DBA2J_G0019172	protein coding gene	Chr11:108085888-108152681 (-)
FVB/NJ	MGP_FVBNJ_G0019163	protein coding gene	Chr11:107571028-107634602 (-)
LP/J	MGP_LPJ_G0019242	protein coding gene	Chr11:113934065-114004982 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019194	protein coding gene	Chr11:120908704-120980264 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019769	protein coding gene	Chr11:112432969-112502940 (-)
PWK/PhJ	MGP_PWKPhJ_G0018409	protein coding gene	Chr11:109255792-109322400 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018201	protein coding gene	Chr11:112250856-112314485 (-)
WSB/EiJ	MGP_WSBEiJ_G0018696	protein coding gene	Chr11:112361598-112430103 (-)

Human Ortholog

ABCA8, ATP binding cassette subfamily A member 8

Vertebrate Orthologs

10

Human Ortholog

ABCA8, ATP binding cassette subfamily A member 8
Orthology source: HomoloGene, HGNC
Links

HGNC:38

NCBI Gene ID: 10351

neXtProt AC: NX_O94911

UniProt: O94911
Chr Location

17q24.2; chr17:68867285-68955426 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 56029
1 human;1 mouse;1 rat;1 chimpanzee;1 dog;2 chicken;2 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: ABCA8
Gene Tree

Abca8b

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
8 phenotype references

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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

77 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased circulating HDL cholesterol levels on a high-cholesterol diet compared with wild-type mice.

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All GO Annotations

16
GO References

5

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	synapse	vacuole

Click cells to view annotations.

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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

118
Tissues

111
cDNA Data

14
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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Abca8b interacts with 342 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

49
RefSeq

14
UniProt

2
CCDS

CCDS25587.1
UniGene

341004

Ensembl

ENSMUSG00000020620 (Evidence)
NCBI Gene

27404

			Length	Strain/Species	Flank
genomic	27404	NCBI Gene Model \| MGI Sequence Detail	63273	C57BL/6J	± kb
transcript	NM_013851	RefSeq \| MGI Sequence Detail	7407	C57BL/6
polypeptide	Q8K440	UniProt \| EBI \| MGI Sequence Detail	1620	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003546 ATP-binding cassette sub-family A member 8

(term hierarchy)
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR026082 ABC transporter A

IPR017871 ABC transporter, conserved site

IPR003439 ABC transporter-like

IPR020846 Major facilitator superfamily domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 15

cDNA 14

Primer pair 1

Microarray probesets 4

Summaries

All 36

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 8
Earliest

J:60841 Schriml LM, et al., Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus. Genomics. 2000 Feb 15;64(1):24-31
Latest

J:269226 Trigueros-Motos L, et al., ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels. Arterioscler Thromb Vasc Biol. 2017 Nov;37(11):2147-2155

TSS for Abca8b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr111589	Chr11:109995775-109995800 (-)	52 bp
Tssr111588	Chr11:109995747-109995762 (-)	85 bp
Tssr111587	Chr11:109995658-109995681 (-)	170 bp
Tssr111586	Chr11:109995641-109995653 (-)	193 bp

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)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 08/13/2019 MGI 6.14