Abca2 MGI Mouse Gene Detail - MGI:99606 - ATP-binding cassette, sub-family A member 2

Symbol

Abca2
Name

ATP-binding cassette, sub-family A member 2
Synonyms

Abc2, D2H0S1474E, mKIAA1062

Feature Type

protein coding gene
IDs

MGI:99606
NCBI Gene: 11305
Alliance

genome feature page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:25318715-25338552 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 17.25 cM, cytoband A2-B
Mapping Data

6 experiments

SNPs within 2kb

470 from dbSNP Build 142
Strain Annotations

19
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_99606	protein coding gene	Chr2:25318611-25338556 (+)
129S1/SvImJ	ENSMUSG00200050116	protein coding gene	Chr2:22302869-22322706 (+)
A/J	ENSMUSG00195040851	protein coding gene	Chr2:22392995-22412887 (+)
AKR/J	ENSMUSG00220051669	protein coding gene	Chr2:22510826-22530718 (+)
BALB/cJ	ENSMUSG00180053507	protein coding gene	Chr2:22404511-22424348 (+)
C3H/HeJ	ENSMUSG00175051832	protein coding gene	Chr2:22368658-22388495 (+)
C57BL/6NJ	ENSMUSG00215045970	protein coding gene	Chr2:22427403-22447240 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023274	protein coding gene	Chr2:21324317-21344458 (+)
CAST/EiJ	ENSTCUG00005050685	protein coding gene	Chr2:22153124-22173019 (+)
CBA/J	ENSMUSG00210016356	protein coding gene	Chr2:22407658-22427495 (+)
DBA/2J	ENSMUSG00185050726	protein coding gene	Chr2:22307199-22327091 (+)
FVB/NJ	ENSMUSG00205041861	protein coding gene	Chr2:22161493-22181330 (+)
JF1/MsJ	ENSUMUG00000055923	protein coding gene	Chr2:22222327-22242196 (+)
LP/J	ENSMUSG00230035723	protein coding gene	Chr2:24238865-24258702 (+)
NOD/ShiLtJ	ENSMUSG00190039940	protein coding gene	Chr2:22398068-22417960 (+)
NZO/HlLtJ	ENSMUSG00225009339	protein coding gene	Chr2:31989268-32009105 (+)
PWK/PhJ	ENSLUMG00010045214	protein coding gene	Chr2:22319830-22339691 (+)
SPRET/EiJ	ENSMSPG00010032187	protein coding gene	Chr2:23006827-23026723 (+)
WSB/EiJ	ENSIUOG00005051008	protein coding gene	Chr2:22265324-22285201 (+)

Human Ortholog

ABCA2, ATP binding cassette subfamily A member 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCA2, ATP binding cassette subfamily A member 2
Synonyms

ABC2, IDPOGSA
Links

HGNC:32

NCBI Gene ID: 20

UniProt: Q9BZC7
Chr Location

9q34.3; chr9:137007234-137028922 (-) GRCh38

MGI Vertebrate Homology

Abca2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABCA2
Gene Tree

Abca2

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Phenotype Summary

20 phenotypes from 3 alleles in 3 genetic backgrounds
11 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	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

7
Endonuclease-mediated

3
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

76 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,

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All GO Annotations

69
GO References

13

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

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

779
Tissues

155
cDNA Data

113
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase abca2

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All Sequences

68
RefSeq

24
UniProt

5
CCDS

CCDS15773.1

Ensembl

ENSMUSG00000026944 (Evidence)
NCBI Gene

11305

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026944	Ensembl Gene Model \| MGI Sequence Detail	19838	C57BL/6J	± kb
transcript	ENSMUST00000102919	Ensembl \| MGI Sequence Detail	8033	Not Applicable
polypeptide	ENSMUSP00000099983	Ensembl \| MGI Sequence Detail	2433	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000003540 ATP-binding cassette sub-family A member 2

(term hierarchy)
EC

7.6.2.-
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR013525 ABC-2 type transporter, transmembrane domain

IPR056264 ABCA1-4-like, C-terminal R2 regulatory domain

IPR026082 ABC transporter A

IPR003439 ABC transporter-like, ATP-binding domain

IPR017871 ABC transporter-like, conserved site

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

P41234 26 sites, 12 N-linked glycans (12 sites), 1 O-linked glycan (1 site)

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All nucleic 117

cDNA 115

Primer pair 1

Other 1

Antibodies 2

Microarray probesets 3

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MGD-MRK-16391, MGD-MRK-5803, MGI:2138926

Summaries

All 58

Developmental Gene Expression 5

Gene Ontology 13

Phenotypes 11
Earliest

J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
Latest

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

TSS for Abca2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr16716	Chr2:25318578-25318588 (+)	-132 bp
Tssr16717	Chr2:25318603-25318617 (+)	-105 bp
Tssr16718	Chr2:25318656-25318698 (+)	-38 bp
Tssr16719	Chr2:25318711-25318727 (+)	4 bp
Tssr16720	Chr2:25318729-25318742 (+)	21 bp
Tssr431	Chr2:25319398-25319408 (+)	688 bp
Tssr16721	Chr2:25321250-25321266 (+)	2,543 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)
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