Protein:SLC11A2 |
Protein Summary |
 Gene summary |
| Gene name: SLC11A2 | ASpdb.0 ID: 4891 | Gene | Gene symbol | SLC11A2 | Gene ID | 4891 |
| Gene name | solute carrier family 11 member 2 |
| Synonyms | AHMIO1|DCT1|DMT1|NRAMP2 |
| Cytomap | 12q13.12 |
| Type of gene | protein-coding |
| Description | natural resistance-associated macrophage protein 2DMT-1NRAMP 2divalent cation transporter 1solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2solute carrier family 11 (proton-coupled divalent metal ion transporters), me |
| Modification date | 20240403 |
| UniProtAcc | P49281 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | SLC11A2 | GO:0005375 | copper ion transmembrane transporter activity | 12734107 |
| Gene | SLC11A2 | GO:0005384 | manganese ion transmembrane transporter activity | 17293870 |
| Gene | SLC11A2 | GO:0005634 | nucleus | 15880641 |
| Gene | SLC11A2 | GO:0005737 | cytoplasm | 11891802 |
| Gene | SLC11A2 | GO:0005739 | mitochondrion | - |
| Gene | SLC11A2 | GO:0005765 | lysosomal membrane | 10751401 |
| Gene | SLC11A2 | GO:0005769 | early endosome | 15880641|25491917 |
| Gene | SLC11A2 | GO:0005886 | plasma membrane | 25491917 |
| Gene | SLC11A2 | GO:0006825 | copper ion transport | 12734107 |
| Gene | SLC11A2 | GO:0006826 | iron ion transport | 12734107|17293870 |
| Gene | SLC11A2 | GO:0006828 | manganese ion transport | 17293870 |
| Gene | SLC11A2 | GO:0015086 | cadmium ion transmembrane transporter activity | 12662899 |
| Gene | SLC11A2 | GO:0015093 | ferrous iron transmembrane transporter activity | 12734107|17293870 |
| Gene | SLC11A2 | GO:0015094 | lead ion transmembrane transporter activity | 12127992 |
| Gene | SLC11A2 | GO:0015295 | solute:proton symporter activity | 17109629 |
| Gene | SLC11A2 | GO:0015692 | lead ion transport | 12127992 |
| Gene | SLC11A2 | GO:0016324 | apical plasma membrane | 15880641 |
| Gene | SLC11A2 | GO:0031410 | cytoplasmic vesicle | 15880641 |
| Gene | SLC11A2 | GO:0031902 | late endosome membrane | 10751401 |
| Gene | SLC11A2 | GO:0034755 | iron ion transmembrane transport | 17293870 |
| Gene | SLC11A2 | GO:0045177 | apical part of cell | 15880641 |
| Gene | SLC11A2 | GO:0045178 | basal part of cell | 15880641 |
| Gene | SLC11A2 | GO:0046870 | cadmium ion binding | 25326704 |
| Gene | SLC11A2 | GO:0046915 | transition metal ion transmembrane transporter activity | 25326704 |
| Gene | SLC11A2 | GO:0048471 | perinuclear region of cytoplasm | 10751401 |
| Gene | SLC11A2 | GO:0055037 | recycling endosome | 15880641 |
| Gene | SLC11A2 | GO:0070574 | cadmium ion transmembrane transport | 12662899|25326704 |
| Gene | SLC11A2 | GO:0070826 | paraferritin complex | 11842004 |
| Gene | SLC11A2 | GO:1903561 | extracellular vesicle | 27462458 |
AS Summary |
| Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| P49281-1 | P49281-1_5f0l_D.pdb | 5F0L | X-ray | 3.2 | D | 551 | 560 |
| ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| P49281 | SLC11A2 | P49281-1 | P49281-2 | 568 | 561 | 544 | 568 | Substitution | CHLGLTAQPELYLLNTMDADSLVSR | VSISKGLLTEEATRGYVK | 544 | 561 |
| P49281 | SLC11A2 | P49281-1 | P49281-3 | 568 | 590 | 1 | 1 | Substitution | M | MRKKQLKTEAAPHCELKSYSKNSATQVSTM | 1 | 30 |
| P49281 | SLC11A2 | P49281-1 | P49281-3 | 568 | 590 | 544 | 568 | Substitution | CHLGLTAQPELYLLNTMDADSLVSR | VSISKGLLTEEATRGYVK | 573 | 590 |
| P49281 | SLC11A2 | P49281-1 | P49281-4 | 568 | 597 | 1 | 1 | Substitution | M | MRKKQLKTEAAPHCELKSYSKNSATQVSTM | 1 | 30 |
| P49281 | SLC11A2 | P49281-1 | P49281-5 | 568 | 557 | 1 | 12 | Substitution | MVLGPEQKMSDD | MSTVDYLN | 1 | 8 |
| P49281 | SLC11A2 | P49281-1 | P49281-5 | 568 | 557 | 544 | 568 | Substitution | CHLGLTAQPELYLLNTMDADSLVSR | VSISKGLLTEEATRGYVK | 540 | 557 |
| Multiple sequence alignment of our canonical and alternatively spliced SLC11A2 |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of SLC11A2 |
| UniProt-id | ENSG | ENST | ENSP |
| P49281-1 | ENSG00000110911.17 | ENST00000546636.5 | ENSP00000449008.1 |
| P49281-1 | ENSG00000110911.17 | ENST00000547198.5 | ENSP00000446769.1 |
| P49281-1 | ENSG00000110911.17 | ENST00000644495.1 | ENSP00000494107.1 |
| P49281-2 | ENSG00000110911.17 | ENST00000262052.9 | ENSP00000262052.5 |
| P49281-2 | ENSG00000110911.17 | ENST00000541174.6 | ENSP00000444542.2 |
| P49281-3 | ENSG00000110911.17 | ENST00000394904.9 | ENSP00000378364.3 |
| P49281-4 | ENSG00000110911.17 | ENST00000547688.7 | ENSP00000449200.2 |
| P49281-5 | ENSG00000110911.17 | ENST00000545993.7 | ENSP00000442810.2 |
| UniProt-id | NM ID | NP ID |
| P49281-1 | NM_001174126.1 | NP_001167597.1 |
| P49281-1 | NM_001174127.1 | NP_001167598.1 |
| P49281-1 | XM_011538404.2 | XP_011536706.1 |
| P49281-1 | XM_011538405.2 | XP_011536707.1 |
| P49281-2 | NM_000617.2 | NP_000608.1 |
| P49281-2 | NM_001174128.1 | NP_001167599.1 |
| P49281-2 | NM_001174129.1 | NP_001167600.1 |
| P49281-3 | NM_001174125.1 | NP_001167596.1 |
| P49281-5 | NM_001174130.1 | NP_001167601.1 |
| Amino acid sequences of our canonical and alternatively spliced SLC11A2 |
| accession_id | Protein sequence |
| P49281-1 | MVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNI ESDLQSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQEVIGSAIAINLLSVGRI PLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMY LHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVVEVCTNTSSPHAGLFPKDNSTLAVDIYKGG VVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAIIPTLLVAVFQDVEHLTGMNDFLNVLQSLQL PFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVAYLGFVFYLGWQCLIALGMSFLDC |
| P49281-2 | MVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNI ESDLQSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQEVIGSAIAINLLSVGRI PLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMY LHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVVEVCTNTSSPHAGLFPKDNSTLAVDIYKGG VVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAIIPTLLVAVFQDVEHLTGMNDFLNVLQSLQL PFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVAYLGFVFYLGWQCLIALGMSFLDC |
| P49281-3 | MRKKQLKTEAAPHCELKSYSKNSATQVSTMVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEE YSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDLQSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWL MVELAIIGSDMQEVIGSAIAINLLSVGRIPLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMF VPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVV EVCTNTSSPHAGLFPKDNSTLAVDIYKGGVVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAII PTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVA |
| P49281-4 | MRKKQLKTEAAPHCELKSYSKNSATQVSTMVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEE YSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDLQSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWL MVELAIIGSDMQEVIGSAIAINLLSVGRIPLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMF VPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVV EVCTNTSSPHAGLFPKDNSTLAVDIYKGGVVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAII PTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVA |
| P49281-5 | MSTVDYLNSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDL QSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQEVIGSAIAINLLSVGRIPLWG GVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSA LVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVVEVCTNTSSPHAGLFPKDNSTLAVDIYKGGVVLG CYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAIIPTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFAL IPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVAYLGFVFYLGWQCLIALGMSFLDCGHTV |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| SLC11A2 (go to UniProt):P49281 |
| Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P49281 | Topological domain | 1 | 69 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=1;End=1 |
| P49281 | Topological domain | 1 | 69 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=1;End=1 |
| P49281 | Topological domain | 1 | 69 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=1;End=12 |
| P49281 | Topological domain | 528 | 568 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=544;End=568 |
| P49281 | Topological domain | 528 | 568 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=544;End=568 |
| P49281 | Topological domain | 528 | 568 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=544;End=568 |
| P49281 | Region | 1 | 40 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=1 |
| P49281 | Region | 1 | 40 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=1 |
| P49281 | Region | 1 | 40 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=12 |
| P49281 | Region | 555 | 559 | Note=Required for early endosome targeting;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12475959;Dbxref=PMID:12475959 | Type=Substitution;Start=544;End=568 |
| P49281 | Region | 555 | 559 | Note=Required for early endosome targeting;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12475959;Dbxref=PMID:12475959 | Type=Substitution;Start=544;End=568 |
| P49281 | Region | 555 | 559 | Note=Required for early endosome targeting;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12475959;Dbxref=PMID:12475959 | Type=Substitution;Start=544;End=568 |
Gene Isoform Structures and Expression Levels for SLC11A2 |
| Gene structures of our canonical and alternative spliced genes of SLC11A2 * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Expression levels of gene isoforms across GTEx. |
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| Expression levels of gene isoforms across TCGA. |
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Protein Structures |
| PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of P49281-1 |
| 3D view using mol* of P49281-2 |
| 3D view using mol* of P49281-3 |
| 3D view using mol* of P49281-4 |
| 3D view using mol* of P49281-5 |
pLDDT Score Distribution |
| pLDDT score distribution of the predicted protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of P49281-1 |
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| pLDDT distribution across the protein length of P49281-2 |
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| pLDDT distribution across the protein length of P49281-3 |
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| pLDDT distribution across the protein length of P49281-4 |
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| pLDDT distribution across the protein length of P49281-5 |
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Ramachandran Plot of Protein Structures |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of P49281-1 |
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| Ramachandran plot of P49281-2 |
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| Ramachandran plot of P49281-3 |
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| Ramachandran plot of P49281-5 |
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Potential Active Site Information |
| The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| P49281-1 | 1.008 | 125 | 1.066 | 367.353 | 0.711 | 0.635 | 0.75 | 0.519 | 0.784 | 0.662 | 1.46 | 92,95,98,99,103,247,248,250,251,252,254,255,257,25 8,322,323,324,325,327,345,346,351,352,353,354,355, 358,433,436,440,441,443,444,447,448,494,495,497,49 8 |
| P49281-2 | 1.063 | 84 | 1.197 | 209.573 | 0.653 | 0.612 | 0.776 | 2.534 | 0.097 | 26.009 | 30.021 | 455,458,477,478,481,482,484,485,488,489,492,518,51 9,522,523,526,527,529,530,533,535 |
| P49281-3 | 1.028 | 145 | 1.086 | 444.871 | 0.668 | 0.66 | 0.824 | 0.61 | 0.766 | 0.797 | 1.744 | 120,121,124,127,128,129,130,131,132,135,264,267,26 8,271,273,276,277,280,281,283,284,287,351,352,353, 354,380,381,382,383,469,470,472,473,477,523,526,52 7 |
| P49281-4 | 1.068 | 88 | 1.197 | 190.708 | 0.627 | 0.618 | 0.775 | 2.491 | 0.172 | 14.477 | 13.499 | 484,487,503,506,507,510,511,513,514,517,521,551,55 2,555,556,558,559,562,564 |
| P49281-5 | 1.037 | 146 | 1.102 | 456.19 | 0.67 | 0.662 | 0.827 | 0.832 | 0.722 | 1.152 | 1.518 | 87,88,91,94,95,96,97,98,99,102,231,234,235,238,240 ,242,243,244,247,248,250,251,254,315,318,319,320,3 21,347,348,349,350,432,436,437,439,440,444,489,490 ,491,493,494 |
Protein Structure and Feature Comparision |
| Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of P49281-1_P49281-1_5f0l_D.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P49281-1_5f0l_D_P49281-2.pdb |
| 3D view using mol* of P49281-1_5f0l_D_P49281-3.pdb |
| 3D view using mol* of P49281-1_5f0l_D_P49281-4.pdb |
| 3D view using mol* of P49281-1_5f0l_D_P49281-5.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P49281-1_P49281-2.pdb |
| 3D view using mol* of P49281-1_P49281-3.pdb |
| 3D view using mol* of P49281-1_P49281-4.pdb |
| 3D view using mol* of P49281-1_P49281-5.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/P49281-1_vs_P49281-2.png |
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| ./stats/secondary_structure/figure/P49281-1_vs_P49281-3.png |
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| ./stats/secondary_structure/figure/P49281-1_vs_P49281-4.png |
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| ./stats/secondary_structure/figure/P49281-1_vs_P49281-5.png |
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| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/P49281-1_vs_P49281-2.png |
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| ./stats/relative_asa/P49281-1_vs_P49281-3.png |
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| ./stats/relative_asa/P49281-1_vs_P49281-4.png |
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| ./stats/relative_asa/P49281-1_vs_P49281-5.png |
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Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to SLC11A2 |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
| P49281 | SLC11A2 | DB15598 | Ferric maltol | approved | substrate |
Related Diseases to SLC11A2 |
| Previous studies relating to the alternative splicing of SLC11A2 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| SLC11A2 | 9642100 | The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. | Nramp2 is a gene encoding a transmembrane protein that is important in metal transport, in particular iron. Mutations in nramp2 have been shown to be associated with microcytic anemia in mk/mk mice and defective iron transport in Belgrade rats. Nramp2 contains a classical iron responsive element in the 3' untranslated region that confers iron dependent mRNA stabilization. In this report, we describe a splice variant form of human nramp2 that has the carboxyl terminal 18 amino acids substituted with 25 novel amino acids and has a new 3' untranslated region lacking a classical iron-responsive element. This splice form of nramp2, nramp2 non-IRE, was found to be derived from splicing of an additional exon into the terminal coding exon. The nramp2 gene is comprised of 17 exons and spans more than 36 kb. It contains an additional 5' exon and intron (exon and intron 1) and an additional 3' exon (exon 17) and intron (intron 16) as compared to nramp1, a homologous gene. The additional exons and introns account for much of the difference in length between nramp2 (> 36 kb) and nramp1 (12 kb). The exon-intron borders of nramp2 exons 3-15 are homologous to nramp1 exons 2-14. The nramp2 5' regulatory region contains two CCAAT boxes but lacks a TATA box. The 5' regulatory region of nramp2 also contains five potential metal response elements (MRE's) that are similar to the MRE's found in the metallothionein-IIA gene, three potential SP1 binding sites and a single gamma-interferon regulatory element. Five single nucleotide mutations or polymorphisms were identified within the nramp2 gene. One of these, 1303C-->A, occurs in the coding region of nramp2 and results in an amino acid change from leucine to isolecine. A polymorphism, 1254T/C, also occurs in the coding region of nramp2 but does not cause an amino acid change. The other 3 polymorphisms are within introns (IVS2 + 11A/G, IVS4 + 44C/A, and IVS6 + 538G/Gdel). In addition, a polymorphic microsatellite TATATCTATATATC (TA)6-7 (CA)10-11 CCCCCTATA (TATC)3 (TCTG)5 TCCG (TCTA)6 was identified in intron 3. Analysis of cDNA derived by direct amplification of reversed transcribed RNA or cDNA clones isolated from a library provide evidence of skipping of exons 10 and 12 of nramp2. Deletion of either of these exons would result in a sequence that remains in frame yet would generate a protein that would lack transmembrane spanning region 7 or 8 respectively. The deletion of a single transmembrane domain would have severe topological consequences. The coding region of the nramp2 gene of hemochromatosis patients with or without mutations in the hemochromatosis gene, HFE, were examined and found to be normal. One hemochromatosis patient, with a normal HFE genotype, was heterozygous for the 1303C-->A mutation. Furthermore, in an examination of hemochromatosis patients with mutant HFE and normal HFE genes, we did not observe a linkage disequilibrium of either group with a particular nramp2 haplotype. These data suggest that mutations in nramp2 are not commonly associated with hemochromatosis. | D006432 | Hemochromatosis |
Clinically important variants in SLC11A2 |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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