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    SFXN2 sideroflexin 2 [ Homo sapiens (human) ]

    Gene ID: 118980, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 25.3), thyroid (RPKM 4.8) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001350989.2NP_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:15322
      Mtc; Tricarboxylate carrier
    2. NM_178858.6NP_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:15322
      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_047424568.1XP_047280524.1  sideroflexin-2 isoform X2

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

      Conserved Domains (1) summary
      pfam03820
      Location:24331
      Mtc; Tricarboxylate carrier
    3. XM_047424569.1XP_047280525.1  sideroflexin-2 isoform X2

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

      Conserved Domains (1) summary
      pfam03820
      Location:33340
      Mtc; Tricarboxylate carrier
    5. XM_047424572.1XP_047280528.1  sideroflexin-2 isoform X5

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

      UniProtKB/TrEMBL
      A0A0C4DGR6
      Related
      ENSP00000473325.1, ENST00000459894.6
    7. XM_047424570.1XP_047280526.1  sideroflexin-2 isoform X2

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

      UniProtKB/Swiss-Prot
      Q5JSM6, Q96NB2
    9. XM_047424573.1XP_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_054364730.1XP_054220705.1  sideroflexin-2 isoform X2

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

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

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

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

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

      UniProtKB/TrEMBL
      A0A0C4DGR6
    7. XM_054364732.1XP_054220707.1  sideroflexin-2 isoform X2

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

      UniProtKB/Swiss-Prot
      Q5JSM6, Q96NB2
    9. XM_054364736.1XP_054220711.1  sideroflexin-2 isoform X6

    RNA

    1. XR_008488163.1 RNA Sequence

    2. XR_008488164.1 RNA Sequence