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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC11A2 Gene

protein-coding GIFtS: 64
GCID: GC12M051375

solute carrier family 11 (proton-coupled divalent metal...

(Previous symbol: NRAMP2)

Explore 41 diseases affiliated with
SLC11A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 2¹ ²		DMT-1² ³
NRAMP2¹ ² ³ ⁵		NRAMP 2² ³
DCT1¹ ² ³		Natural Resistance-Associated Macrophage Protein 2²
DMT1¹ ² ³		Divalent Metal Transporter 1³
Divalent Cation Transporter 1² ³

External Ids:	HGNC: 10908¹	Entrez Gene: 4891²	Ensembl: ENSG00000110911⁷	OMIM: 600523⁵	UniProtKB: P49281³

Export aliases for SLC11A2 gene to outside databases

Previous GC identifers: GC12M051596 GC12M051458 GC12M051090 GC12M049659 GC12M049661 GC12M048405

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC11A2:

This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent

metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia

with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript

variants encoding different isoforms have been found for this gene.(provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281

Function: Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel,

vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified

endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and

tissue iron distribution

Gene Wiki entry for SLC11A2 (DMT1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC11A2 gene promoter:
p53 NCX/Ncx IRF-7A RelA NF-kappaB1 NF-kappaB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC11A2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC11A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC11A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13

SLC11A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC11A2 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M051375: view genomic region (about GC identifiers)

Start:	51,373,184 bp from pter	End:	51,422,349 bp from pter
Size:	49,166 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281 (See protein sequence)

Recommended Name: Natural resistance-associated macrophage protein 2

Size: 568 amino acids; 62266 Da

Subunit: Forms a complex with NDFIP1 and NEDD4L, in cortical neurons, in response to iron and colbalt exposure; this

interaction leads to ubiquitination by NEDD4L and proteasome-dependent degradation. Interacts with NDFIP2

Subcellular location: Endosome membrane; Multi-pass membrane protein

Miscellaneous: NRAMP2-mediated iron uptake is markedly stimulated by nifedipine in a concentration-dependent manner

Sequence caution: Sequence=AAH02592.1; Type=Erroneous initiation; Sequence=BAA34374.1; Type=Erroneous gene model

prediction;

Secondary accessions: B3KT08 B4DK84 F5H741 O43288 O60932 O94801 Q498Z5 Q8IUD7 Q96J35

Alternative splicing: 5 isoforms: P49281-1 P49281-2 P49281-3 P49281-4 P49281-5 (No experimental confirmation available. Ref.6 (BAG59096/BAH14878) sequences are in conflict in position: 6:Y->S)

Explore the universe of human proteins at neXtProt for SLC11A2: NX_P49281

Post-translational modifications:

Ubiquitinated by WWP2 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49281

SLC11A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_000608.1 NP_001167596.1 NP_001167597.1 NP_001167598.1 NP_001167599.1 NP_001167600.1 NP_001167601.1

ENSEMBL proteins:

ENSP00000450227 ENSP00000262051 ENSP00000449008 ENSP00000446769 ENSP00000262052

ENSP00000449200 ENSP00000444542 ENSP00000442810 ENSP00000446914 ENSP00000446653

ENSP00000450389 ENSP00000447482 ENSP00000446984 ENSP00000447102 ENSP00000447334

ENSP00000449209 ENSP00000448501 ENSP00000448273 ENSP00000378364

Reactome Protein details: P49281
Human Recombinant Protein Products:

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	Uscn Proteins for SLC11A2

Gene Ontology (GO): 5/24 cellular component terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18419598
GO:0005737	cytoplasm	IDA	11891802
GO:0005764	lysosome	IDA	12475959
GO:0005765	lysosomal membrane	IDA	10751401
GO:0005768	endosome	--	--

SLC11A2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC11A2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC11A2 for domains About GeneDecksing

1 InterPro domain/family:

IPR001046 Nat-R-assoc-macro_Nramp

Graphical View of Domain Structure for InterPro Entry P49281

ProtoNet protein and cluster: P49281

1 Blocks protein family: IPB001046 Natural resistance-associated macrophage protein signature

UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281

Similarity: Belongs to the NRAMP family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281

Function: Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel,

vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified

endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and

tissue iron distribution

Biophysicochemical properties: pH dependence: Optimum pH is 5.5-6.5 for Fe(2+) uptake;

Genatlas biochemistry entry for SLC11A2:

solute carrier family 11,member A2,proton-coupled divalent metal ion transporter family,natural resistance associated

macrophage protein 2,61.5kDa,ubiquitously expressed

miRNA Products:		miRTarBase miRNAs that target SLC11A2: hsa-let-7d (MIRT004505)

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		hsa-miR-345 hsa-miR-642a hsa-miR-15a hsa-miR-3921 hsa-miR-424 hsa-miR-149 hsa-miR-4330 hsa-miR-508-5p

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC11A2

Gene Ontology (GO): 5/24 molecular function terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	--	--
GO:0005375	copper ion transmembrane transporter activity	IDA	12734107
GO:0005381	iron ion transmembrane transporter activity	--	--
GO:0005384	manganese ion transmembrane transporter activity	IDA	17293870
GO:0005385	NOT zinc ion transmembrane transporter activity	IDA	17109629

SLC11A2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for SLC11A2:

Synthetic lethal with Ras

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-out Slc11a2^tm1Nca for SLC11A2
12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Slc11a2):

cardiovascular system	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging	nervous system	other
renal/urinary system	reproductive system

SLC11A2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SLC-mediated transmembrane transport

	SLC-mediated transmembrane transport	1.00			Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	0.38
	Transmembrane transport of small molecules	0.50

iron metabolism in placenta

iron metabolism in placenta

1.00

HIF-2-alpha transcription factor network

HIF-2-alpha transcription factor network

1.00

Mineral absorption

Mineral absorption

1.00

Lysosome

Lysosome

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for SLC11A2

	iron metabolism in placenta
	HIF-2-alpha transcription factor network

5 Reactome Pathways for SLC11A2

	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
	Iron uptake and transport
	Metal ion SLC transporters

2 Kegg Pathways (Kegg details for SLC11A2):

	Lysosome
	Mineral absorption

SLC11A2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC11A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/19 Interacting proteins for SLC11A2 (P49281³ ENSP00000262052⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NDFIP1	Q9BT67³, ENSP00000253814⁴	I2D: score=1 STRING: ENSP00000253814
NDFIP2	Q9NV92³, ENSP00000218652⁴	I2D: score=1 STRING: ENSP00000218652
PARK2	O60260³, ENSP00000355865⁴	I2D: score=1 STRING: ENSP00000355865
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
NEDD4	P46934³, ENSP00000345530⁴	I2D: score=1 STRING: ENSP00000345530

About this table

Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000041	transition metal ion transport	--	--
GO:0001666	response to hypoxia	IEP	18419598
GO:0003032	NOT detection of oxygen	IEP	18419598
GO:0006778	porphyrin-containing compound metabolic process	--	--
GO:0006779	porphyrin-containing compound biosynthetic process	--	--

SLC11A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC11A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC11A2

1 HMDB Compound for SLC11A2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Iron	Armco iron (see all 19)	7439-89-6	--

10/18 Novoseek chemical compound relationships for SLC11A2 gene (see all 18) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iron	87.6	734	12876064 (8), 12209011 (7), 10984552 (6), 11159549 (6) (see all 99)
fe2+	63.3	7	17002471 (1), 12818360 (1), 12196176 (1), 10049947 (1) (see all 6)
fe3+	55.6	6	11842004 (2), 17002471 (1), 12196176 (1)
copper	47.5	23	12734107 (4), 11842003 (2), 12220667 (2), 12973678 (1) (see all 10)
manganese	45.8	9	18565586 (2), 12818360 (1), 10911382 (1), 12547224 (1)
zinc	44.1	33	19306086 (2), 19083439 (2), 14594790 (1), 15173386 (1) (see all 10)
cadmium	38.5	27	11439223 (6), 15105261 (4), 11502556 (4), 12388109 (3) (see all 7)
5-aminolevulinic acid	25.4	5	12139757 (2), 17513696 (1)
ascorbic acid	23.8	8	18815723 (6), 15631519 (1)
citrate	20.5	3	18830567 (1)

Search CenterWatch for drugs/clinical trials and news about SLC11A2 / NRAM2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC11A2 gene (7 alternative transcripts):

NM_000617.2 NM_001174125.1 NM_001174126.1 NM_001174127.1 NM_001174128.1 NM_001174129.1 NM_001174130.1

Unigene Cluster for SLC11A2:

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

Hs.505545 [show with all ESTs]

Unigene Representative Sequence: NM_001174129

18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):

ENST00000551215 ENST00000262051(uc001rxd.4 uc001rxf.3 uc001rxe.4 uc001rxc.4)

ENST00000546636 ENST00000547198 ENST00000262052(uc010smx.2 uc001rxh.2 uc010smy.2 uc001rxj.2 uc001rxi.3)

ENST00000550782(uc001rxg.2) ENST00000547688 ENST00000541174 ENST00000545993

ENST00000546743 ENST00000548554 ENST00000551231 ENST00000550061 ENST00000547510

ENST00000546488 ENST00000547579 ENST00000550714 ENST00000547732

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Additional cDNA sequence:

AB004857.1 AB062284.1 AF046997.1 AF064484.1 AJ493662.1 AK094735.1 AK128640.1 AK296445.1

AK315987.1 AK316507.1 BC002592.2 BC100014.1 L37347.1 NR_033421.1 NR_033422.1

24/29 DOTS entries (see all 29):

DT.118360 DT.100654084 DT.99948246 DT.100654083 DT.121195985 DT.97817021 DT.121195972 DT.87046940

DT.100654081 DT.100772271 DT.441627 DT.91651870 DT.121195983 DT.85104369 DT.95075038 DT.85104370

DT.95170359 DT.95170367 DT.95233153 DT.100646845 DT.121195920 DT.121195994 DT.92442155 DT.95343485

24/324 AceView cDNA sequences (see all 324):

CR604434 AA573417 BM982721 CR619274 AL118581 BU166334 BQ717683 AU143680

R23902 AW440345 BE382611 BE468159 NM_000617 AU104216 BF923304 AI361930

F19017 BQ957704 AU132952 BM473572 CD370812 Z39474 AK094735 BC002592

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for SLC11A2 (see all 14) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	^	9a	·	9b	^	10	^	11a	·	11b	^	12a	·	12b	^	13	^	14a	·
SP1:													-						-		-		-		-																-
SP2:													-						-		-		-		-								-		-						-
SP3:							-		-		-		-						-		-		-		-																-
SP4:													-						-		-		-		-																-
SP5:																			-		-		-		-																-

ExUns:	14b	^	15a	·	15b	^	16a	·	16b	^	17	^	18	^	19	^	20a	·	20b	·	20c	·	20d	^	21a	·	21b	·	21c	^	22
SP1:			-				-												-		-		-
SP2:			-				-														-		-
SP3:			-				-
SP4:			-				-
SP5:			-				-

ECgene alternative splicing isoforms for SLC11A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC11A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATAATTGT

About this image
See SLC11A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC11A2

SOURCE GeneReport for Unigene cluster: Hs.505545

UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281

Tissue specificity: Ubiquitously expressed. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in

spleen, thymus and pancreas. Isoform 3 and isoform 4 are abundantly expressed in duodenum and kidney

SABiosciences Custom PCR Arrays for SLC11A2

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the last universal common ancestor (LUCA).

Orthologs for SLC11A2 gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc11a2^{1 , 5}	solute carrier family 11 (proton-coupled divalent metal more^{1, 5}	88.03(n)¹ 92.08(a)¹		15 (56.29 cM)⁵ 18174¹ NM_008732.2¹ NP_032758.2¹ 100387898⁵
lizard (Anolis carolinensis)	Reptilia	SLC11A2⁶	--	76(a)	1 ↔ 1	2(67306983-67344267)
zebrafish (Danio rerio)	Actinopterygii	slc11a2²	solute carrier family 11 (proton-coupled divalent metal more	75.96(n)		280654 AF529267.1
fruit fly (Drosophila melanogaster)	Insecta	Mvl^{1 , 3}	Malvolio¹	64(a)³ 61.77(n)¹ 62.24(a)¹		42490¹ NM_206529.2¹ NP_996251.2¹
worm (Caenorhabditis elegans)	Secernentea	smf-1^{1 , 3}	Protein SMF-1¹	60(a) (best of 2)³ 58.4(n)¹ 58.96(a)¹		X(6755063-6758306)³ 180939¹ NM_001029621.3¹ NP_001024792.2¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SMF1(YOL122C)⁴ SMF2¹	Divalent metal ion transporter with a broad specificity more⁴ Smf2p¹	43.62(n)¹ 32.91(a)¹		15(91419-89692)⁴ 856447¹ NP_011917.1¹ 854027⁴ NP_014519.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	NRAMP2¹	metal transporter Nramp2	55.89(n) 52.8(a)		841127 NM_103618.2 NP_175157.1
rice (Oryza sativa)	Liliopsida	Os03g0208500¹	hypothetical protein	55.86(n) 54.11(a)		4332012 NM_001055865.1 NP_001049330.1
E. coli (Escherichia coli)	Gamma proteobacteria	mntH⁶	manganese/divalent cation transporter	29(a)	possible ortholog	Chromosome(2509490-2510728)

ENSEMBL Gene Tree for SLC11A2 (if available)
TreeFam Gene Tree for SLC11A2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC11A2 gene

SLC11A1²

4 SIMAP similar genes for SLC11A2 using alignment to 12 protein entries: NRAM2_HUMAN (see all proteins):

NSRP1 SLC11A1 HECW1 NRAMP1

SLC11A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77801666^1,2	C,F,	--	48406538(+)	`AATGGG/CAATAG`	3	--	ut3¹ int¹		1	EA	120
rs12831023^1,2	H	--	48407556(+)	`CCCAGA/TTGGCA`	5	Q H	mis¹		4	NS EA	420
rs113774484^1,2	C,	--	48408292(+)	`AGGCAG/TGAGAA`	3	--	int¹		1	WA	2
rs112232141^1,2		--	48408445(+)	`GCCTGC/TAATCC`	3	--	int¹		1	CSA	2
rs113187747^1,2	C,F,	--	48408926(+)	`TAGGCG/ATGTGC`	3	--	int¹		3	WA CSA	122
rs73297963^1,2	C,	--	48409282(+)	`AATGTG/AAATAA`	3	--	int¹		2	WA	120
rs76109520^1,2	F,	--	48410014(+)	`TGTGAA/GGACAG`	3	--	int¹		1	WA	118
rs73297966^1,2	C,F,	--	48410061(+)	`AACTAG/CTGGGC`	3	--	int¹		3	WA CSA	122
rs2630363^1,2	H	--	48410370(-)	`TTTTAG/CCCTAT`	3	--	int¹		4	NS EA	420
rs11834310^1,2	C,F,H,	--	48410544(+)	`GTTGGC/TAACTT`	3	--	int¹		9	NS EA NA WA	546

HapMap Linkage Disequilibrium report for SLC11A2 (51373184 - 51422349 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC11A2
1 CNV: 47982
Human Gene Mutation Database (HGMD): SLC11A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SLC11A2 for disorders           About GeneDecksing

OMIM gene information: 600523
OMIM disorders: 206100
UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281

Defects in SLC11A2 are a cause of hypochromic microcytic anemia (HCMA) [MIM:206100]. The disease is

characterized by an abnormal hemoglobin content in the erythrocytes which are reduced in size. It may be hereditary or

acquired. Mutations in SLC11A2 are associated with progressive liver iron overload and normal to moderately elevated

serum ferritin levels

20/41 diseases for SLC11A2 (see all 41): About MalaCards

hypochromic microcytic anemia microcytic anemia iron overload hypochromic microcytic anemia with iron overload

hfe-associated hereditary hemochromatosis anemia iron deficiency anemia restless legs syndrome

hemochromatosis amyotrophic lateral sclerosis friedreich ataxia lateral sclerosis

hemosiderosis inflammatory bowel disease hepatitis c thalassemia

parkinson's disease nephropathy celiac disease hepatocellular carcinoma

2 diseases from the University of Copenhagen DISEASES database for SLC11A2:

Hemochromatosis Anemia

10/20 Novoseek disease relationships for SLC11A2 gene (see all 20) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
microcytic anemia	86.8	20	16584902 (3), 16023393 (2), 17116712 (2), 16160008 (2) (see all 10)
hereditary hemochromatosis	84.8	14	12547214 (5), 11042033 (1), 14530973 (1), 16759552 (1) (see all 8)
iron overload	81.3	36	11159549 (4), 16584902 (3), 14618243 (2), 15459009 (2) (see all 18)
anemia, hypochromic microcytic	79.4	12	18154916 (2), 15459009 (1), 18596229 (1), 17215883 (1) (see all 7)
hemochromatosis	78	21	11042033 (3), 9642100 (3), 11159549 (2), 9915882 (1) (see all 13)
iron deficiency	77.7	27	11313311 (3), 12547214 (2), 15054143 (2), 14618243 (1) (see all 18)
iron deficiency anemia	59.9	2	12547214 (1), 11897618 (1)
anemia	44.5	11	10548553 (1), 16790587 (1), 17109629 (1), 10594973 (1) (see all 8)
thalassemia	25.6	1	18596229 (1)
parkinson disease	13.1	2	19011085 (1)

Genetic Association Database (GAD): SLC11A2
Human Genome Epidemiology (HuGE) Navigator: SLC11A2 (9 documents)

Export disorders for SLC11A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC11A2 gene, integrated from 9 sources (see all 264):
(articles sorted by number of sources associating them with SLC11A2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of a second human NRAMP gene on chromosome 12q13. (PubMed id 7613023)^{1, 2, 3, 9} Vidal S.... Gros P. (1995)
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. (PubMed id 9642100)^{1, 2, 9} Lee P.L.... Beutler E. (1998)
Divalent metal transporter 1 (DMT1) regulation by Ndf ip1 prevents metal toxicity in human neurons. (PubMed id 19706893)^{1, 2, 9} Howitt J....Tan S.S. (2009)
Functional properties of multiple isoforms of human divalent metal- ion transporter 1 (DMT1). (PubMed id 17109629)^{1, 2, 9} Mackenzie B.... Hediger M.A. (2007)
SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa. (PubMed id 15636493)^{1, 4, 9} Hoal E.G....Van Helden P.D. (2004)
Previously uncharacterized isoforms of divalent metal transporter (DMT)-1: implications for regulation and cellular function. (PubMed id 12209011)^{1, 2, 9} Hubert N. and Hentze M.W. (2002)
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. (PubMed id 15459009)^{1, 2, 9} Mims M.P.... Prchal J.T. (2005)
Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease. (PubMed id 15644277)^{1, 4, 9} Jamieson S.E....Blackwell J.M. (2005)
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (PubMed id 16439678)^{1, 2, 9} Beaumont C....Tchernia G. (2006)
Regulation of the divalent metal ion transporter DMT1 and iron homeostasis by a ubiquitin-dependent mechanism involving Ndfips and WWP2. (PubMed id 18776082)^{1, 2} Foot N.J....Kumar S. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4891	HGNC: 10908	AceView: SLC11A2	Ensembl:ENSG00000110911	euGenes: HUgn4891
ECgene: SLC11A2	Kegg: 4891	H-InvDB: SLC11A2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC11A2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC11A2 gene
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Patent Information for SLC11A2 gene:
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GeneCards and IP:
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Cirrhosis
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Diabetic Nephropathies
iron deficiency
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SLC11A2 Gene

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