Slc25a4 MGI Mouse Gene Detail - MGI:1353495 - solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4

Symbol

Slc25a4
Name

solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
Synonyms

adenine nucleotide translocase-1, Ant1

Feature Type

protein coding gene
IDs

MGI:1353495
NCBI Gene: 11739
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr8:46660205-46664099 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 26.22 cM
Mapping Data

13 experiments

SNPs within 2kb

164 from dbSNP Build 142
Strain Annotations

18
PCR

3
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353495	protein coding gene	Chr8:46659834-46664321 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0033586	protein coding gene	Chr8:45302685-45307172 (-)
A/J	MGP_AJ_G0033568	protein coding gene	Chr8:43541852-43546339 (-)
AKR/J	MGP_AKRJ_G0033493	protein coding gene	Chr8:44826605-44831092 (-)
BALB/cJ	MGP_BALBcJ_G0033565	protein coding gene	Chr8:43726965-43731452 (-)
C3H/HeJ	MGP_C3HHeJ_G0033274	protein coding gene	Chr8:45362973-45367460 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0034081	protein coding gene	Chr8:47005541-47010028 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031030	protein coding gene	Chr8:39815228-39819867 (-)
CAST/EiJ	MGP_CASTEiJ_G0032600	protein coding gene	Chr8:44802718-44807031 (-)
CBA/J	MGP_CBAJ_G0033253	protein coding gene	Chr8:48910377-48914864 (-)
DBA/2J	MGP_DBA2J_G0033406	protein coding gene	Chr8:43355506-43359993 (-)
FVB/NJ	MGP_FVBNJ_G0033347	protein coding gene	Chr8:42847310-42851797 (-)
LP/J	MGP_LPJ_G0033494	protein coding gene	Chr8:45306589-45311076 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033392	protein coding gene	Chr8:48976531-48981018 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034099	protein coding gene	Chr8:44990894-44995381 (-)
PWK/PhJ	MGP_PWKPhJ_G0032308	protein coding gene	Chr8:42881208-42885724 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0032144	protein coding gene	Chr8:44147838-44152336 (-)
WSB/EiJ	MGP_WSBEiJ_G0032716	protein coding gene	Chr8:45246605-45251090 (-)

Human Ortholog

SLC25A4, solute carrier family 25 member 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC25A4, solute carrier family 25 member 4
Synonyms

AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1
Links

HGNC:10990

NCBI Gene ID: 291

neXtProt AC: NX_P12235

UniProt: P12235
Chr Location

4q35.1; chr4:185143266-185150382 (+) GRCh38

MGI Vertebrate Homology

Slc25a4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC25A4
Gene Tree

Slc25a4

Diseases

7 with human SLC25A4 associations

				Human Disease	Mouse Models
				autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 IDs autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 DOID:0111517 OMIM:609283
				chronic progressive external ophthalmoplegia IDs chronic progressive external ophthalmoplegia DOID:12558 ICD10CM:H49.4 ICD9CM:378.72 MESH:D017246 OMIM:PS157640 UMLS_CUI:C0162674
				dilated cardiomyopathy 1H IDs dilated cardiomyopathy 1H DOID:0110429 ICD10CM:I42.0 OMIM:604288
				hypertrophic cardiomyopathy IDs hypertrophic cardiomyopathy DOID:11984 DOID:11986 ICD9CM:425.1 ICD9CM:425.11 KEGG:05410 MESH:D002312 NCI:C34449 ORDO:217569 UMLS_CUI:C0007194
				mitochondrial DNA depletion syndrome 12a IDs mitochondrial DNA depletion syndrome 12a DOID:0080130 NCI:C129977 OMIM:617184
				mitochondrial DNA depletion syndrome 12b IDs mitochondrial DNA depletion syndrome 12b DOID:0080335 NCI:C129977 OMIM:615418 ORDO:1369
				mitochondrial myopathy IDs mitochondrial myopathy DOID:699 MESH:D017240 NCI:C101328 OMIM:251900 UMLS_CUI:C0162670

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

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Phenotype Summary

16 phenotypes from 3 alleles in 3 genetic backgrounds
1 phenotype from multigenic genotypes
27 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

12
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

8
Genomic Mutations

1 involving Slc25a4
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice exhibit a defect in mitochondrial energy metabolism and develop mitochondrial myopathy and hypertrophic cardiomyopathy, metabolic acidosis, and a severe exercise intolerance.

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All GO Annotations

40
GO References

15

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

708
Tissues

2
cDNA Data

526
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SLC25A4

Xenbase slc25a4

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All Sequences

48
RefSeq

3
UniProt

2
CCDS

CCDS40333.1

Ensembl

ENSMUSG00000031633 (Evidence)
NCBI Gene

11739

			Length	Strain/Species	Flank
genomic	11739	NCBI Gene Model \| MGI Sequence Detail	3895	C57BL/6J	± kb
transcript	NM_007450	RefSeq \| MGI Sequence Detail	1332	ZRU/MplStud
polypeptide	P48962	UniProt \| EBI \| MGI Sequence Detail	298	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000015032 ADP/ATP translocase 1

(term hierarchy)
InterPro Domains

IPR002113 ADP/ATP carrier protein, eukaryotic type

IPR023395 Mitochondrial carrier domain superfamily

IPR002067 Mitochondrial carrier protein

IPR018108 Mitochondrial substrate/solute carrier
GlyGen

P48962 3 sites, 1 O-linked glycan (3 sites)

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All nucleic 536

Genomic 2

cDNA 527

Primer pair 6

Other 1

Microarray probesets 6

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MGD-MRK-16246, MGI:2142690, MGI:99472

Summaries

All 91

Developmental Gene Expression 8

Gene Ontology 15

Phenotypes 27
Earliest

J:41737 Cozens AL, et al., DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J Mol Biol. 1989 20;206(2):261-80
Latest

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

TSS for Slc25a4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr81200	Chr8:46664057-46664073 (-)	34 bp
Tssr81199	Chr8:46663430-46663441 (-)	663 bp
Tssr81198	Chr8:46662276-46662295 (-)	1,813 bp
Tssr81197	Chr8:46662175-46662194 (-)	1,914 bp
Tssr81196	Chr8:46662093-46662159 (-)	1,973 bp
Tssr81195	Chr8:46661554-46661580 (-)	2,532 bp
Tssr81194	Chr8:46661475-46661506 (-)	2,608 bp
Tssr81193	Chr8:46660631-46660663 (-)	3,452 bp
Tssr81192	Chr8:46660590-46660610 (-)	3,499 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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