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SFXN2 sideroflexin 2 [ Homo sapiens (human) ]

Gene ID: 118980, updated on 27-Nov-2024

Summary

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Official Symbol
SFXN2provided by HGNC
Official Full Name
sideroflexin 2provided by HGNC
Primary source
HGNC:HGNC:16086
See related
Ensembl:ENSG00000156398 MIM:615570; AllianceGenome:HGNC:16086
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLC56A2
Summary
Predicted to enable transmembrane transporter activity. Involved in mitochondrial transmembrane transport. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in kidney (RPKM 25.3), thyroid (RPKM 4.8) and 16 other tissues See more
Orthologs
mouse all
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Genomic context

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See SFXN2 in Genome Data Viewer
Location:
10q24.32
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102714636..102743492)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103600452..103629294)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104474393..104503249)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2769 Neighboring gene tripartite motif containing 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104428852-104429454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104429455-104430056 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:104430057-104430658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104433562-104434111 Neighboring gene ARF like GTPase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474219-104474795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474796-104475371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104488530-104489304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104489305-104490077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3949 Neighboring gene WW domain binding protein 1 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104534833-104535364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104535897-104536428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:104536429-104536960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104540708-104541208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104541209-104541709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3950 Neighboring gene RNA, U6 small nuclear 1231, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104575177-104575710 Neighboring gene CYP17A1 antisense RNA 1 Neighboring gene cytochrome P450 family 17 subfamily A member 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Regulation of mitochondrial iron homeostasis by sideroflexin 2. Mon EE, et al. J Physiol Sci, 2019 Mar. PMID 30570704, Free PMC Article
  2. Elevated SFXN2 limits mitochondrial autophagy and increases iron-mediated energy production to promote multiple myeloma cell proliferation. Chen Y, et al. Cell Death Dis, 2022 Sep 26. PMID 36163342, Free PMC Article
  3. Isolation and characterization of a novel human putative anemia-related gene homologous to mouse sideroflexin. Ye X, et al. Biochem Genet, 2003 Apr. PMID 12670026
  4. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Kory N, et al. Science, 2018 Nov 16. PMID 30442778, Free PMC Article
  5. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Simón-Sánchez J, et al. Nat Genet, 2009 Dec. PMID 19915575, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Elevated SFXN2 limits mitochondrial autophagy and increases iron-mediated energy production to promote multiple myeloma cell proliferation.
    Title: Elevated SFXN2 limits mitochondrial autophagy and increases iron-mediated energy production to promote multiple myeloma cell proliferation.
  2. SFXN2 functions in mitochondrial iron metabolism by regulating heme biosynthesis.
    Title: Regulation of mitochondrial iron homeostasis by sideroflexin 2.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. molecular cloning of SFXN2
    Title: Isolation and characterization of a novel human putative anemia-related gene homologous to mouse sideroflexin.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
EBI GWAS Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables monoatomic ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mitochondrial transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in serine import into mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sideroflexin-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001350989.2 → NP_001337918.1  sideroflexin-2

    Status: VALIDATED

    Source sequence(s)
    AL391121, BC022091, BP871592, BU169015, BX090573, BX350016
    Consensus CDS
    CCDS7539.1
    UniProtKB/Swiss-Prot
    Q5JSM6, Q96NB2
    Conserved Domains (1) summary
    pfam03820
    Location:15 → 322
    Mtc; Tricarboxylate carrier

  2. NM_178858.6 → NP_849189.1  sideroflexin-2

    See identical proteins and their annotated locations for NP_849189.1

    Status: VALIDATED

    Source sequence(s)
    AL391121, BC022091, BX090573, BX350016
    Consensus CDS
    CCDS7539.1
    UniProtKB/Swiss-Prot
    Q5JSM6, Q96NB2
    Related
    ENSP00000358909.4, ENST00000369893.10
    Conserved Domains (1) summary
    pfam03820
    Location:15 → 322
    Mtc; Tricarboxylate carrier

RNA

  1. NR_146992.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK055711, AL391121, BC022091, BX090573

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    102714636..102743492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424568.1 → XP_047280524.1  sideroflexin-2 isoform X2

  2. XM_011539261.3 → XP_011537563.1  sideroflexin-2 isoform X3

    Conserved Domains (1) summary
    pfam03820
    Location:24 → 331
    Mtc; Tricarboxylate carrier

  3. XM_047424569.1 → XP_047280525.1  sideroflexin-2 isoform X2

  4. XM_024447792.2 → XP_024303560.1  sideroflexin-2 isoform X1

    Conserved Domains (1) summary
    pfam03820
    Location:33 → 340
    Mtc; Tricarboxylate carrier

  5. XM_047424572.1 → XP_047280528.1  sideroflexin-2 isoform X5

  6. XM_047424574.1 → XP_047280530.1  sideroflexin-2 isoform X7

    UniProtKB/TrEMBL
    A0A0C4DGR6
    Related
    ENSP00000473325.1, ENST00000459894.6

  7. XM_047424570.1 → XP_047280526.1  sideroflexin-2 isoform X2

  8. XM_047424571.1 → XP_047280527.1  sideroflexin-2 isoform X4

    UniProtKB/Swiss-Prot
    Q5JSM6, Q96NB2

  9. XM_047424573.1 → XP_047280529.1  sideroflexin-2 isoform X6

RNA

  1. XR_007061941.1 RNA Sequence

  2. XR_007061942.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103600452..103629294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364730.1 → XP_054220705.1  sideroflexin-2 isoform X2

  2. XM_054364733.1 → XP_054220708.1  sideroflexin-2 isoform X3

  3. XM_054364731.1 → XP_054220706.1  sideroflexin-2 isoform X2

  4. XM_054364729.1 → XP_054220704.1  sideroflexin-2 isoform X1

  5. XM_054364735.1 → XP_054220710.1  sideroflexin-2 isoform X5

  6. XM_054364737.1 → XP_054220712.1  sideroflexin-2 isoform X7

    UniProtKB/TrEMBL
    A0A0C4DGR6

  7. XM_054364732.1 → XP_054220707.1  sideroflexin-2 isoform X2

  8. XM_054364734.1 → XP_054220709.1  sideroflexin-2 isoform X4

    UniProtKB/Swiss-Prot
    Q5JSM6, Q96NB2

  9. XM_054364736.1 → XP_054220711.1  sideroflexin-2 isoform X6

RNA

  1. XR_008488163.1 RNA Sequence

  2. XR_008488164.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96NB2.2 GenPept UniProtKB/Swiss-Prot:Q96NB2

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