1. Gene
  2. SFXN5 - sideroflexin 5 Gene

SFXN5 - sideroflexin 5 Gene

Homo sapiens

Also known as BBG-TCC; SLC56A5

Gene ID: 94097 | Gene type: protein coding

About SFXN5

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:72,942,036-73,071,712 (from NCBI)

This gene has 22 transcripts (splice variants), 252 orthologues and 4 paralogues. Broad expression in brain (RPKM 13.0), liver (RPKM 3.8) and 20 other tissues.

Summary

Predicted to enable citrate transmembrane transporter activity. Predicted to be involved in citrate transport and mitochondrial transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

SFXN5 Products(20)

mRNA Protein Name
NM_001330400.2 NP_001317329.1 sideroflexin-5 isoform 1
NM_001330401.2 NP_001317330.1 sideroflexin-5 isoform 3
NM_001330402.2 NP_001317331.1 sideroflexin-5 isoform 4
NM_001330403.2 NP_001317332.1 sideroflexin-5 isoform 5 precursor
NM_001330404.2 NP_001317333.1 sideroflexin-5 isoform 6
NM_001330405.2 NP_001317334.1 sideroflexin-5 isoform 7 precursor
NM_001330406.2 NP_001317335.1 sideroflexin-5 isoform 8 precursor
NM_001330407.2 NP_001317336.1 sideroflexin-5 isoform 9
NM_001330408.2 NP_001317337.1 sideroflexin-5 isoform 10
NM_001330410.2 NP_001317339.1 sideroflexin-5 isoform 6
NM_001330411.2 NP_001317340.1 sideroflexin-5 isoform 11
NM_001330412.2 NP_001317341.1 sideroflexin-5 isoform 11
NM_001371737.1 NP_001358666.1 sideroflexin-5 isoform 12
NM_001371738.1 NP_001358667.1 sideroflexin-5 isoform 13
NM_001371739.1 NP_001358668.1 sideroflexin-5 isoform 14
NM_001371740.1 NP_001358669.1 sideroflexin-5 isoform 15
NM_001371741.1 NP_001358670.1 sideroflexin-5 isoform 16
NM_001371742.1 NP_001358671.1 sideroflexin-5 isoform 17
NM_001371743.1 NP_001358672.1 sideroflexin-5 isoform 18
NM_144579.3 NP_653180.1 sideroflexin-5 isoform 2
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
30442778 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SFXN5 Protein Structure

Mtc

Mtc: Tricarboxylate carrier (32 - 340)

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

sideroflexin-5

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

Parkinson Disease 21

PARK21

Parkinson'S Disease 21

Parkinson Disease, Type 21

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

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Felis catus SFXN5 VGNC VGNC:65073
Macaca mulatta SFXN5 VGNC VGNC:77243
Bos taurus SFXN5 VGNC VGNC:34534
Mus musculus SFXN5 MGD MGI:2137681
Rattus norvegicus SFXN5 RGD RGD:628706
Canis familiaris SFXN5 VGNC VGNC:46090