Human Gene SFXN2 (uc001kwb.2) Description and Page Index
  Description: Homo sapiens sideroflexin 2 (SFXN2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr10:104,474,298-104,498,946 Size: 24,649 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr10:104,486,394-104,497,519 Size: 11,126 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,474,298-104,498,946)mRNA (may differ from genome)Protein (322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: SFXN2_HUMAN
DESCRIPTION: RecName: Full=Sideroflexin-2;
FUNCTION: Potential iron transporter.
SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the sideroflexin family.
SEQUENCE CAUTION: Sequence=BAB70993.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SFXN2
CDC HuGE Published Literature: SFXN2
Positive Disease Associations: Parkinson's disease
Related Studies:
  1. Parkinson's disease
    Simon-Sanchez ,et al. 2009, Genome-wide association study reveals genetic risk underlying Parkinson's disease, Nature genetics 2009 41- 12 : 1308-12. [PubMed 19915575]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.48 RPKM in Kidney - Cortex
Total median expression: 68.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.40166-0.436 Picture PostScript Text
3' UTR -458.001427-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004686 - Mtc

Pfam Domains:
PF03820 - Tricarboxylate carrier

ModBase Predicted Comparative 3D Structure on Q96NB2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015075 ion transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0034220 ion transmembrane transport
GO:0055072 iron ion homeostasis
GO:0055085 transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  BC022091 - Homo sapiens sideroflexin 2, mRNA (cDNA clone MGC:4567 IMAGE:3029622), complete cds.
JD395040 - Sequence 376064 from Patent EP1572962.
JD484998 - Sequence 466022 from Patent EP1572962.
AF462052 - Homo sapiens sideroflexin (SFXN) mRNA, complete cds.
JD123658 - Sequence 104682 from Patent EP1572962.
AK308246 - Homo sapiens cDNA, FLJ98194.
AK055711 - Homo sapiens cDNA FLJ31149 fis, clone IMR322001491, moderately similar to Rattus norvegicus tricarboxylate carrier-like protein mRNA.
JD287000 - Sequence 268024 from Patent EP1572962.
DQ896103 - Synthetic construct Homo sapiens clone IMAGE:100010563; FLH190333.01L; RZPDo839H0265D sideroflexin 2 (SFXN2) gene, encodes complete protein.
DQ892856 - Synthetic construct clone IMAGE:100005486; FLH190337.01X; RZPDo839H0275D sideroflexin 2 (SFXN2) gene, encodes complete protein.
KJ895340 - Synthetic construct Homo sapiens clone ccsbBroadEn_04734 SFXN2 gene, encodes complete protein.
JD547835 - Sequence 528859 from Patent EP1572962.
JD287274 - Sequence 268298 from Patent EP1572962.
JD039400 - Sequence 20424 from Patent EP1572962.
JD261456 - Sequence 242480 from Patent EP1572962.
JD439089 - Sequence 420113 from Patent EP1572962.
JD338605 - Sequence 319629 from Patent EP1572962.
JD241710 - Sequence 222734 from Patent EP1572962.
JD207873 - Sequence 188897 from Patent EP1572962.
JD207872 - Sequence 188896 from Patent EP1572962.
JD556688 - Sequence 537712 from Patent EP1572962.
JD523873 - Sequence 504897 from Patent EP1572962.
JD485258 - Sequence 466282 from Patent EP1572962.
JD202942 - Sequence 183966 from Patent EP1572962.
JD463677 - Sequence 444701 from Patent EP1572962.
JD152192 - Sequence 133216 from Patent EP1572962.
JD407511 - Sequence 388535 from Patent EP1572962.
JD212904 - Sequence 193928 from Patent EP1572962.
JD466374 - Sequence 447398 from Patent EP1572962.
JD243624 - Sequence 224648 from Patent EP1572962.
JD204785 - Sequence 185809 from Patent EP1572962.
JD331546 - Sequence 312570 from Patent EP1572962.
JD515547 - Sequence 496571 from Patent EP1572962.
JD514203 - Sequence 495227 from Patent EP1572962.
JD070749 - Sequence 51773 from Patent EP1572962.
JD132924 - Sequence 113948 from Patent EP1572962.
JD419040 - Sequence 400064 from Patent EP1572962.
JD419041 - Sequence 400065 from Patent EP1572962.
JD475685 - Sequence 456709 from Patent EP1572962.
JD143912 - Sequence 124936 from Patent EP1572962.
JD349772 - Sequence 330796 from Patent EP1572962.
JD349738 - Sequence 330762 from Patent EP1572962.
JD509606 - Sequence 490630 from Patent EP1572962.
JD075236 - Sequence 56260 from Patent EP1572962.
JD082034 - Sequence 63058 from Patent EP1572962.
JD319815 - Sequence 300839 from Patent EP1572962.
JD126549 - Sequence 107573 from Patent EP1572962.
JD229273 - Sequence 210297 from Patent EP1572962.
JD325918 - Sequence 306942 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_178858, NP_849189, Q96NB2, SFXN2_HUMAN
UCSC ID: uc001kwb.2
RefSeq Accession: NM_178858
Protein: Q96NB2 (aka SFXN2_HUMAN or SFX2_HUMAN)
CCDS: CCDS7539.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_178858.4
exon count: 12CDS single in 3' UTR: no RNA size: 2562
ORF size: 969CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2131.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.