SFXN4 (sideroflexin 4)

2014-11-01  

Identity

HGNC
LOCATION
10q26.11
LOCUSID
ALIAS
BCRM1,COXPD18,SLC56A4
FUSION GENES

Other Information

Locus ID:

NCBI: 119559
MIM: 615564
HGNC: 16088
Ensembl: ENSG00000183605

Variants:

dbSNP: 119559
ClinVar: 119559
TCGA: ENSG00000183605
COSMIC: SFXN4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183605ENST00000355697Q6P4A7
ENSG00000183605ENST00000369131B1AMV7
ENSG00000183605ENST00000419372B1AMV8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
241196842013Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.17
147564232003Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia.5
310598222019Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.0

Citation

Dessen P

SFXN4 (sideroflexin 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73176/sfxn4