ENSG00000183605


Homo sapiens

Features
Gene ID: ENSG00000183605
  
Biological name :SFXN4
  
Synonyms : Q6P4A7 / SFXN4 / sideroflexin 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q26.11
Gene start: 119140767
Gene end: 119165667
  
Corresponding Affymetrix probe sets: 225143_at (Human Genome U133 Plus 2.0 Array)   229236_s_at (Human Genome U133 Plus 2.0 Array)   230637_at (Human Genome U133 Plus 2.0 Array)   231505_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358127
Ensembl peptide - ENSP00000414193
Ensembl peptide - ENSP00000347924
NCBI entrez gene - 119559     See in Manteia.
OMIM - 615564
RefSeq - XM_011539282
RefSeq - NM_213649
RefSeq - XM_005269525
RefSeq - XM_005269526
RefSeq - XM_005269527
RefSeq Peptide - NP_998814
swissprot - B1AMV8
swissprot - B1AMV7
swissprot - Q6P4A7
Ensembl - ENSG00000183605
  
Related genetic diseases (OMIM): 615578 - Combined oxidative phosphorylation deficiency 18, 615578
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
 sfxn4ENSDARG00000069832Danio rerio
 SFXN4ENSGALG00000009350Gallus gallus
 Sfxn4ENSMUSG00000063698Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SFXN5 / Q8TD22 / sideroflexin 5ENSG0000014404026
SFXN2 / Q96NB2 / sideroflexin 2ENSG0000015639821
SFXN3 / Q9BWM7 / sideroflexin 3ENSG0000010781920
SFXN1 / Q9H9B4 / sideroflexin 1ENSG0000016446620


Protein motifs (from Interpro)
Interpro ID Name
 IPR004686  Tricarboxylate/iron carrier
 IPR028825  Sideroflexin-4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0055072 iron ion homeostasis IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0015075 ion transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
No match


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:0000505 Impaired vision 
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 HP:0000750 Impaired language development 
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001310 Dysmetria 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001972 Macrocytic anemia 
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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