1. Gene
  2. SFXN2 - sideroflexin 2 Gene

SFXN2 - sideroflexin 2 Gene

Homo sapiens

Also known as SLC56A2

Gene ID: 118980 | Gene type: protein coding

About SFXN2

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,714,636-102,743,492 (from NCBI)

This gene has 13 transcripts (splice variants), 205 orthologues and 4 paralogues. Broad expression in kidney (RPKM 25.3), thyroid (RPKM 4.8) and 16 other tissues.

Summary

Predicted to enable serine transmembrane transporter activity. Involved in mitochondrial transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

SFXN2 Products(2)

mRNA Protein Name
NM_001350989.2 NP_001337918.1 sideroflexin-2
NM_178858.6 NP_849189.1 sideroflexin-2

SFXN2 Protein Structure

Mtc

Mtc: Tricarboxylate carrier (15 - 322)

  • 0
  • 100
  • 200
  • 300
  • 322 a.a.
Protein Preferred Names Protein Names

sideroflexin-2

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 18

Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome

COXPD18

Combined Oxidative Phosphorylation Deficiency, Type 18

Combined Oxidative Phosphorylation Deficiency 7

COXPD7

Combined Oxidative Phosphorylation Defect Type 7

Severe C12orf65-Related Combined Oxidative Phosphorylation Defect

Severe C12orf65-Related Coxpd

Combined Oxidative Phosphorylation Deficiency, Type 7

Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10

Cardiomyopathy And Cataract

Cataract And Cardiomyopathy

MTDPS10

Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

Senger Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SFXN2 MGD MGI:2137678
Bos taurus SFXN2 VGNC VGNC:34531
Rattus norvegicus SFXN2 RGD RGD:1306131
Felis catus SFXN2 VGNC VGNC:65070
Canis familiaris SFXN2 VGNC VGNC:46088