Abca12 MGI Mouse Gene Detail - MGI:2676312 - ATP-binding cassette, sub-family A member 12

Symbol

Abca12
Name

ATP-binding cassette, sub-family A member 12
Synonyms

4832428G11Rik, 4833417A11Rik

Feature Type

protein coding gene
IDs

MGI:2676312
NCBI Gene: 74591
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr1:71282249-71454069 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 35.81 cM
Mapping Data

4 experiments

SNPs within 2kb

4444 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2676312	protein coding gene	Chr1:71281435-71454069 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016125	protein coding gene	Chr1:71661876-71841824 (-)
A/J	MGP_AJ_G0016108	protein coding gene	Chr1:69129576-69300933 (-)
AKR/J	MGP_AKRJ_G0016065	protein coding gene	Chr1:71117517-71295639 (-)
BALB/cJ	MGP_BALBcJ_G0016063	protein coding gene	Chr1:69258011-69429801 (-)
C3H/HeJ	MGP_C3HHeJ_G0015894	protein coding gene	Chr1:71442371-71617807 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016516	protein coding gene	Chr1:74413759-74595806 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014237	protein coding gene	Chr1:64844377-65015076 (-)
CAST/EiJ	MGP_CASTEiJ_G0015478	protein coding gene	Chr1:70683863-70858885 (-)
CBA/J	MGP_CBAJ_G0015867	protein coding gene	Chr1:76900670-77083389 (-)
DBA/2J	MGP_DBA2J_G0015968	protein coding gene	Chr1:68530216-68697707 (-)
FVB/NJ	MGP_FVBNJ_G0015971	protein coding gene	Chr1:67706042-67878552 (-)
LP/J	MGP_LPJ_G0016040	protein coding gene	Chr1:72729163-72909251 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015991	protein coding gene	Chr1:80423017-80602770 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016563	protein coding gene	Chr1:71098381-71277404 (-)
PWK/PhJ	MGP_PWKPhJ_G0015265	protein coding gene	Chr1:67958569-68125616 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015044	protein coding gene	Chr1:70512070-70686941 (-)
WSB/EiJ	MGP_WSBEiJ_G0015540	protein coding gene	Chr1:70921395-71098410 (-)

Human Ortholog

ABCA12, ATP binding cassette subfamily A member 12

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCA12, ATP binding cassette subfamily A member 12
Synonyms

ARCI4A, ARCI4B, ICR2B, LI2
Links

HGNC:14637

NCBI Gene ID: 26154

neXtProt AC: NX_Q86UK0

UniProt: Q86UK0
Chr Location

2q35; chr2:214931542-215138626 (-) GRCh38

MGI Vertebrate Homology

Abca12 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABCA12
Gene Tree

Abca12

Diseases

1 with Abca12 mouse models; 3 with human ABCA12 associations

Human Disease

Mouse Models

autosomal recessive congenital ichthyosis 4B

IDs

View 4 models

autosomal recessive congenital ichthyosis 1

IDs

autosomal recessive congenital ichthyosis 4A

IDs

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

Mutations/Alleles

4 with disease annotations

References

4 with disease annotations

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Phenotype Summary

47 phenotypes from 5 alleles in 6 genetic backgrounds
4 images
25 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

15
Chemically induced (ENU)

3
Chemically induced (other)

1
Endonuclease-mediated

4
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving Abca12
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

131 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.

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All GO Annotations

73
GO References

18

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

825
Tissues

112
cDNA Data

10
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN abca12

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All Sequences

42
RefSeq

3
UniProt

5
CCDS

CCDS48286.1

Ensembl

ENSMUSG00000050296 (Evidence)
NCBI Gene

74591

			Length	Strain/Species	Flank
genomic	74591	NCBI Gene Model \| MGI Sequence Detail	171821	C57BL/6J	± kb
transcript	NM_175210	RefSeq \| MGI Sequence Detail	8323	C57BL/6
polypeptide	E9Q876	UniProt \| EBI \| MGI Sequence Detail	2595	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000003539 glucosylceramide transporter ABCA12

(term hierarchy)
EC

7.6.2.1
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR013525 ABC-2 type transporter, transmembrane 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

E9Q876 39 sites

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All nucleic 17

cDNA 12

Primer pair 5

Microarray probesets 2

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MGI:1921841, MGI:3036275

Summaries

All 57

Developmental Gene Expression 9

Diseases 4

Gene Ontology 18

Phenotypes 25
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:353738 Ford NC, et al., Hair follicles modulate skin barrier function. Cell Rep. 2024 Jul 23;43(7):114347

TSS for Abca12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr12100	Chr1:71454089-71454100 (-)	-26 bp
Tssr12099	Chr1:71454081-71454086 (-)	-15 bp
Tssr12098	Chr1:71454040-71454074 (-)	12 bp
Tssr12097	Chr1:71453999-71454031 (-)	54 bp
Tssr12096	Chr1:71453977-71453988 (-)	86 bp
Tssr12095	Chr1:71453962-71453974 (-)	101 bp
Tssr12094	Chr1:71346666-71346675 (-)	107,398 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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