Abcb5 MGI Mouse Gene Detail - MGI:1924956 - ATP-binding cassette, sub-family B member 5

Symbol

Abcb5
Name

ATP-binding cassette, sub-family B member 5
Synonyms

9230106F14Rik

Feature Type

protein coding gene
IDs

MGI:1924956
NCBI Gene: 77706
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr12:118831559-118930156 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 63.48 cM, cytoband F2
Mapping Data

2 experiments

SNPs within 2kb

2399 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924956	protein coding gene	Chr12:118831221-118930169 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020189	protein coding gene	Chr12:121868264-121967630 (-)
A/J	MGP_AJ_G0020145	protein coding gene	Chr12:117339408-117431364 (-)
AKR/J	MGP_AKRJ_G0020120	protein coding gene	Chr12:120913391-121020170 (-)
BALB/cJ	MGP_BALBcJ_G0020128	protein coding gene	Chr12:117788549-117889202 (-)
C3H/HeJ	MGP_C3HHeJ_G0019932	protein coding gene	Chr12:121205871-121307377 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020575	protein coding gene	Chr12:125651792-125769854 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018187	protein coding gene	Chr12:113719648-113814358 (-)
CAST/EiJ	MGP_CASTEiJ_G0019472	protein coding gene	Chr12:115083797-115189839 (-)
CBA/J	MGP_CBAJ_G0019899	protein coding gene	Chr12:130601459-130717551 (-)
DBA/2J	MGP_DBA2J_G0020016	protein coding gene	Chr12:116745625-116840420 (-)
FVB/NJ	MGP_FVBNJ_G0020001	protein coding gene	Chr12:115415311-115510438 (-)
LP/J	MGP_LPJ_G0020090	protein coding gene	Chr12:121883984-121985479 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020037	protein coding gene	Chr12:133860046-133963041 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020604	protein coding gene	Chr12:120099514-120209672 (-)
PWK/PhJ	MGP_PWKPhJ_G0019234	protein coding gene	Chr12:111520049-111619504 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019039	protein coding gene	Chr12:113074777-113172674 (-)
WSB/EiJ	MGP_WSBEiJ_G0019530	protein coding gene	Chr12:121068573-121183375 (-)

Human Ortholog

ABCB5, ATP binding cassette subfamily B member 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCB5, ATP binding cassette subfamily B member 5
Synonyms

ABCB5alpha, ABCB5beta, EST422562
Links

HGNC:46

NCBI Gene ID: 340273

neXtProt AC: NX_Q2M3G0

UniProt: Q2M3G0
Chr Location

7p21.1; chr7:20615667-20777038 (+) GRCh38

MGI Vertebrate Homology

Abcb5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABCB5
Gene Tree

Abcb5

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References

4 with disease annotations

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
68 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

9
Endonuclease-mediated

5
Spontaneous

1
Targeted

3
Genomic Mutations

1 involving Abcb5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

81 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities.

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All GO Annotations

17
GO References

8

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

801
Tissues

95
cDNA Data

3
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase abcb5

ZFIN abcb5

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All Sequences

39
RefSeq

6
UniProt

4
CCDS

CCDS49198.1

Ensembl

ENSMUSG00000072791 (Evidence)
NCBI Gene

77706

			Length	Strain/Species	Flank
genomic	ENSMUSG00000072791	Ensembl Gene Model \| MGI Sequence Detail	98598	C57BL/6J	± kb
transcript	ENSMUST00000035515	Ensembl \| MGI Sequence Detail	3876	Not Applicable
polypeptide	ENSMUSP00000046177	Ensembl \| MGI Sequence Detail	1255	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003550 ATP-binding cassette sub-family B member 5

(term hierarchy)
EC

7.6.2.2
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

B5X0E4 11 sites

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All nucleic 4

cDNA 3

Primer pair 1

Microarray probesets 2

Summaries

All 91

Developmental Gene Expression 2

Diseases 4

Gene Ontology 8

Phenotypes 68
Earliest

J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
Latest

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

TSS for Abcb5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr118152	Chr12:118930130-118930146 (-)	18 bp
Tssr118151	Chr12:118930125-118930128 (-)	29 bp
Tssr118150	Chr12:118888311-118888317 (-)	41,842 bp
Tssr118149	Chr12:118872658-118872661 (-)	57,496 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24