Slc11a2 MGI Mouse Gene Detail - MGI:1345279 - solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

Symbol

Slc11a2
Name

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
Synonyms

DCT1, DMT1, microcytic anemia, viable anaemia, Nramp2, van

Feature Type

protein coding gene
IDs

MGI:1345279
NCBI Gene: 18174
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr15:100285779-100322090 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 56.29 cM
Mapping Data

11 experiments

SNPs within 2kb

360 from dbSNP Build 142
Strain Annotations

18
PCR

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1345279	protein coding gene	Chr15:100285779-100322953 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022350	protein coding gene	Chr15:102345447-102382342 (-)
A/J	MGP_AJ_G0022312	protein coding gene	Chr15:98311913-98349570 (-)
AKR/J	MGP_AKRJ_G0022288	protein coding gene	Chr15:101315575-101352432 (-)
BALB/cJ	MGP_BALBcJ_G0022316	protein coding gene	Chr15:98434141-98471398 (-)
C3H/HeJ	MGP_C3HHeJ_G0022086	protein coding gene	Chr15:101395491-101432385 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022764	protein coding gene	Chr15:106184796-106222135 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020289	protein coding gene	Chr15:94085834-94122828 (-)
CAST/EiJ	MGP_CASTEiJ_G0021611	protein coding gene	Chr15:102253208-102298907 (-)
CBA/J	MGP_CBAJ_G0022055	protein coding gene	Chr15:109831799-109868968 (-)
DBA/2J	MGP_DBA2J_G0022182	protein coding gene	Chr15:97679721-97716724 (-)
FVB/NJ	MGP_FVBNJ_G0022161	protein coding gene	Chr15:96694066-96730937 (-)
LP/J	MGP_LPJ_G0022253	protein coding gene	Chr15:102520389-102558607 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022182	protein coding gene	Chr15:113556499-113597732 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022778	protein coding gene	Chr15:101323787-101362775 (-)
PWK/PhJ	MGP_PWKPhJ_G0021350	protein coding gene	Chr15:97805602-97843221 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021182	protein coding gene	Chr15:101218074-101290508 (-)
WSB/EiJ	MGP_WSBEiJ_G0021661	protein coding gene	Chr15:101950806-101989170 (-)

Human Ortholog

SLC11A2, solute carrier family 11 member 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC11A2, solute carrier family 11 member 2
Synonyms

AHMIO1, DCT1, DMT1, NRAMP2
Links

HGNC:10908

NCBI Gene ID: 4891

neXtProt AC: NX_P49281

UniProt: P49281
Chr Location

12q13.12; chr12:50952263-51028886 (-) GRCh38

MGI Vertebrate Homology

Slc11a2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC11A2
Gene Tree

Slc11a2

Diseases

4 with human SLC11A2 associations

				Human Disease	Mouse Models
				amyotrophic lateral sclerosis IDs amyotrophic lateral sclerosis DOID:332 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 NCI:C34373 OMIM:PS105400 ORDO:803 UMLS_CUI:C0002736
				anemia IDs anemia DOID:2355 EFO:0004272 ICD10CM:D64.9 ICD9CM:285.9 MESH:D000740 NCI:C2869 UMLS_CUI:C0002871
				hypochromic anemia IDs hypochromic anemia DOID:11759 ICD10CM:D50 MESH:D000747 NCI:C34380 UMLS_CUI:C0002884
				Parkinson's disease IDs Parkinson's disease DOID:14330 ICD10CM:G20 ICD9CM:332 ICD9CM:332.0 KEGG:05012 MESH:D010300 NCI:C26845 OMIM:PS168600 ORDO:2828 UMLS_CUI:C0030567

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

References

1 with disease annotations

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Phenotype Summary

45 phenotypes from 3 alleles in 7 genetic backgrounds
6 phenotypes from multigenic genotypes
65 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

22
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

7
Radiation induced

2
Spontaneous

2
Targeted

4
Transgenic

3
Genomic Mutations

3 involving Slc11a2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a spontaneous mutation exhibit microcytic, hypochromic anemia associated with impaired intestinal iron absorption and erythroblast iron uptake. Mutants have reduced viability and fertility.

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All GO Annotations

128
GO References

28

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	non-membrane-bounded 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

726
Tissues

8
cDNA Data

14
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc11a2

ZFIN slc11a2

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All Sequences

93
RefSeq

22
UniProt

6
CCDS

CCDS37211.1, CCDS49733.1

Ensembl

ENSMUSG00000023030 (Evidence)
NCBI Gene

18174

			Length	Strain/Species	Flank
genomic	18174	NCBI Gene Model \| MGI Sequence Detail	36312	C57BL/6J	± kb
transcript	NM_001146161	RefSeq \| MGI Sequence Detail	4373	ZRU/MplStud
polypeptide	P49282	UniProt \| EBI \| MGI Sequence Detail	568	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000002993 natural resistance-associated macrophage protein 2

(term hierarchy)
InterPro Domains

IPR001046 NRAMP family

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All nucleic 19

cDNA 14

Primer pair 4

Other 1

Microarray probesets 6

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MGD-MRK-12247, MGD-MRK-15380, MGD-MRK-24100, MGI:103229, MGI:96993

Summaries

All 137

Developmental Gene Expression 10

Diseases 1

Gene Ontology 28

Phenotypes 65
Earliest

J:5167 Russell ES, et al., Characterization and genetic studies of microcytic anemia in house mouse. Blood. 1970 Jun;35(6):838-50
Latest

J:331974 Cao C, et al., Loss of the placental iron exporter ferroportin 1 causes embryonic demise in late-gestation mouse pregnancy. Development. 2022 Dec 1;149(23):dev201160

TSS for Slc11a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr136428	Chr15:100322979-100322986 (-)	-893 bp
Tssr136427	Chr15:100322931-100322956 (-)	-854 bp
Tssr136426	Chr15:100322089-100322100 (-)	-5 bp
Tssr136425	Chr15:100322050-100322054 (-)	38 bp
Tssr136424	Chr15:100320926-100320937 (-)	1,158 bp
Tssr136423	Chr15:100320872-100320920 (-)	1,194 bp
Tssr136422	Chr15:100315986-100315992 (-)	6,101 bp
Tssr136421	Chr15:100313671-100313682 (-)	8,413 bp
Tssr136420	Chr15:100313625-100313640 (-)	8,457 bp
Tssr136419	Chr15:100308040-100308048 (-)	14,046 bp
Tssr136418	Chr15:100301318-100301337 (-)	20,762 bp
Tssr136417	Chr15:100301289-100301309 (-)	20,791 bp
Tssr136416	Chr15:100301263-100301281 (-)	20,818 bp
Tssr136415	Chr15:100301215-100301225 (-)	20,870 bp
Tssr136414	Chr15:100301139-100301151 (-)	20,945 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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