Slc25a12 MGI Mouse Gene Detail - MGI:1926080 - solute carrier family 25 (mitochondrial carrier, Aralar), member 12

Slc25a12 Gene Detail

Symbol

Slc25a12
Name

solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Synonyms

B230107K20Rik

Feature Type

protein coding gene
IDs

MGI:1926080
NCBI Gene: 78830
Gene Overview

MyGene.info: SLC25A12

Sequence Map

Chr2:71271063-71367749 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

96687 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 42.38 cM
Mapping Data

2 experiments

Human Ortholog

SLC25A12, solute carrier family 25 member 12

Vertebrate Orthologs

8

Human Ortholog

SLC25A12, solute carrier family 25 member 12
Orthology source: HomoloGene, HGNC
Synonyms

AGC1, ARALAR, EIEE39
Links

HGNC:10982

NCBI Gene ID: 8604

neXtProt AC: NX_O75746

UniProt: O75746
Chr Location

2q31.1; chr2:171783405-171894306 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 48235
1 human;1 mouse;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 macaque, rhesus
HCOP

human homology predictions: SLC25A12
Gene Tree

Slc25a12

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
14 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

125
Chemically induced (other)

1
Gene trapped

122
Targeted

2
Genomic Mutations

1 involving Slc25a12
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

115 strains or lines available

Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels.

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All GO Annotations

23
GO References

9

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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

10
Tissues

6
cDNA Data

11
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc25a12

ZFIN slc25a12

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Slc25a12 interacts with 405 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

61
RefSeq

6
UniProt

2
CCDS

CCDS16113.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000013185	VEGA Gene Model \| MGI Sequence Detail	96687	C57BL/6J	± kb
transcript	OTTMUST00000031854	VEGA \| MGI Sequence Detail	6351	Not Applicable
polypeptide	OTTMUSP00000014191	VEGA \| MGI Sequence Detail	677	Not Applicable

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SNPs within 2kb

1219 from dbSNP Build 142

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UniProt

2 Sequences
Protein Ontology

PR:000015007 calcium-binding mitochondrial carrier protein Aralar1

(term hierarchy)
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR023395 Mitochondrial carrier domain

IPR002067 Mitochondrial carrier protein

IPR018108 Mitochondrial substrate/solute carrier

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All nucleic 13

cDNA 12

Primer pair 1

Microarray probesets 5

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MGI:2139062, MGI:2139433

Summaries

All 46

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 14
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:231959 Llorente-Folch I, et al., l-Lactate-Mediated Neuroprotection against Glutamate-Induced Excitotoxicity Requires ARALAR/AGC1. J Neurosci. 2016 Apr 20;36(16):4443-56

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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