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SFXN2 sideroflexin 2 [ Homo sapiens (human) ]

Gene ID: 118980, updated on 6-Nov-2022

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 serine transmembrane transporter activity. Involved in mitochondrial transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 25.3), thyroid (RPKM 4.8) and 16 other tissues See more
Orthologs
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Genomic context

See SFXN2 in Genome Data Viewer
Location:
10q24.32
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102714636..102743492)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103600452..103629294)
105.20220307 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 tripartite motif containing 8 Neighboring gene ADP ribosylation factor like GTPase 3 Neighboring gene WW domain binding protein 1 like Neighboring gene RNA, U6 small nuclear 1231, pseudogene 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

Homology

Gene Ontology Provided by GOA

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

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_001350989.2NP_001337918.1  sideroflexin-2

    Status: VALIDATED

    Source sequence(s)
    AL391121, BC022091, BP871592, BU169015, BX090573, BX350016
    Consensus CDS
    CCDS7539.1
    UniProtKB/Swiss-Prot
    Q5JSM6
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
  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)