ENSG00000110911


Homo sapiens

Features
Gene ID: ENSG00000110911
  
Biological name :SLC11A2
  
Synonyms : P49281 / SLC11A2 / solute carrier family 11 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.12
Gene start: 50979401
Gene end: 51028566
  
Corresponding Affymetrix probe sets: 203123_s_at (Human Genome U133 Plus 2.0 Array)   203124_s_at (Human Genome U133 Plus 2.0 Array)   203125_x_at (Human Genome U133 Plus 2.0 Array)   210047_at (Human Genome U133 Plus 2.0 Array)   237106_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494744
Ensembl peptide - ENSP00000494696
Ensembl peptide - ENSP00000496105
Ensembl peptide - ENSP00000262051
Ensembl peptide - ENSP00000262052
Ensembl peptide - ENSP00000378364
Ensembl peptide - ENSP00000442810
Ensembl peptide - ENSP00000444542
Ensembl peptide - ENSP00000446653
Ensembl peptide - ENSP00000446769
Ensembl peptide - ENSP00000446914
Ensembl peptide - ENSP00000446984
Ensembl peptide - ENSP00000447102
Ensembl peptide - ENSP00000447482
Ensembl peptide - ENSP00000448273
Ensembl peptide - ENSP00000448501
Ensembl peptide - ENSP00000449008
Ensembl peptide - ENSP00000449200
Ensembl peptide - ENSP00000449209
Ensembl peptide - ENSP00000450227
Ensembl peptide - ENSP00000450389
Ensembl peptide - ENSP00000493633
Ensembl peptide - ENSP00000494001
Ensembl peptide - ENSP00000494107
Ensembl peptide - ENSP00000494619
NCBI entrez gene - 4891     See in Manteia.
OMIM - 600523
RefSeq - NM_001174130
RefSeq - NM_000617
RefSeq - NM_001174125
RefSeq - NM_001174126
RefSeq - NM_001174127
RefSeq - NM_001174128
RefSeq - NM_001174129
RefSeq - XM_005268911
RefSeq - XM_005268912
RefSeq - XM_011538404
RefSeq - XM_011538405
RefSeq - XM_017019355
RefSeq - XM_017019356
RefSeq Peptide - NP_001167600
RefSeq Peptide - NP_001167601
RefSeq Peptide - NP_000608
RefSeq Peptide - NP_001167596
RefSeq Peptide - NP_001167597
RefSeq Peptide - NP_001167598
RefSeq Peptide - NP_001167599
swissprot - F8VRL7
swissprot - F8VWB0
swissprot - F8W154
swissprot - F8W1C0
swissprot - F8W1D8
swissprot - F8W1F2
swissprot - P49281
swissprot - A0A0X8GKR4
swissprot - F8W1P7
swissprot - H0YIV3
swissprot - F8VR36
Ensembl - ENSG00000110911
  
Related genetic diseases (OMIM): 206100 - Anemia, hypochromic microcytic, with iron overload 1, 206100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc11a2ENSDARG00000024295Danio rerio
 P49282ENSMUSG00000023030Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P49279 / SLC11A1 / solute carrier family 11 member 1ENSG0000001828058


Protein motifs (from Interpro)
Interpro ID Name
 IPR001046  NRAMP family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006778 porphyrin-containing compound metabolic process IEA
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006824 cobalt ion transport IEA
 biological_processGO:0006825 copper ion transport IDA
 biological_processGO:0006826 iron ion transport IEA
 biological_processGO:0006828 manganese ion transport IDA
 biological_processGO:0006879 cellular iron ion homeostasis TAS
 biological_processGO:0007611 learning or memory IEA
 biological_processGO:0010039 response to iron ion IEP
 biological_processGO:0015684 ferrous iron transport IDA
 biological_processGO:0015692 lead ion transport IDA
 biological_processGO:0030001 metal ion transport IEA
 biological_processGO:0035434 copper ion transmembrane transport IEA
 biological_processGO:0048813 dendrite morphogenesis IEA
 biological_processGO:0048821 erythrocyte development IEA
 biological_processGO:0055072 iron ion homeostasis IEA
 biological_processGO:0060586 multicellular organismal iron ion homeostasis IMP
 biological_processGO:0070574 cadmium ion transmembrane transport IDA
 biological_processGO:0070627 ferrous iron import NAS
 biological_processGO:0071421 manganese ion transmembrane transport IEA
 biological_processGO:1902600 proton transmembrane transport IEA
 biological_processGO:1903874 ferrous iron transmembrane transport IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005765 lysosomal membrane IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005773 vacuole IMP
 cellular_componentGO:0005886 plasma membrane IMP
 cellular_componentGO:0005887 integral component of plasma membrane IMP
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0031526 brush border membrane ISS
 cellular_componentGO:0031902 late endosome membrane IDA
 cellular_componentGO:0045177 apical part of cell IDA
 cellular_componentGO:0045178 basal part of cell IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0055037 recycling endosome IDA
 cellular_componentGO:0070826 paraferritin complex IDA
 cellular_componentGO:1903561 extracellular vesicle IDA
 molecular_functionGO:0005375 copper ion transmembrane transporter activity IDA
 molecular_functionGO:0005381 iron ion transmembrane transporter activity TAS
 molecular_functionGO:0005384 manganese ion transmembrane transporter activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015078 proton transmembrane transporter activity IEA
 molecular_functionGO:0015086 cadmium ion transmembrane transporter activity IDA
 molecular_functionGO:0015087 cobalt ion transmembrane transporter activity IEA
 molecular_functionGO:0015093 ferrous iron transmembrane transporter activity IMP
 molecular_functionGO:0015094 lead ion transmembrane transporter activity IDA
 molecular_functionGO:0015295 solute:proton symporter activity IDA
 molecular_functionGO:0046870 cadmium ion binding IDA
 molecular_functionGO:0046873 metal ion transmembrane transporter activity IEA
 molecular_functionGO:0046915 transition metal ion transmembrane transporter activity IDA


Pathways (from Reactome)
Pathway description
Metal ion SLC transporters
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
Iron uptake and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001392 Abnormality of the liver 
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 HP:0001903 Anemia 
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 HP:0001939 Metabolism abnormality 
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 HP:0025066 Decreased mean corpuscular volume "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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