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SPNS2 sphingolipid transporter 2 [ Homo sapiens (human) ]

Gene ID: 124976, updated on 8-Jul-2021

Summary

Official Symbol
SPNS2provided by HGNC
Official Full Name
sphingolipid transporter 2provided by HGNC
Primary source
HGNC:HGNC:26992
See related
Ensembl:ENSG00000183018 MIM:612584
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB115; SLC62A2; SLC63A2
Summary
The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in esophagus (RPKM 28.9), kidney (RPKM 26.3) and 23 other tissues See more
Orthologs
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Genomic context

See SPNS2 in Genome Data Viewer
Location:
17p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4498881..4539035)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4402176..4442330)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sphingolipid transporter 3 (putative) Neighboring gene SPNS2 antisense RNA 1 Neighboring gene MYB binding protein 1a Neighboring gene gamma-glutamyltransferase 6 Neighboring gene thioredoxin pseudogene 4

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sphingolipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables sphingolipid transporter activity TAS
Traceable Author Statement
more info
 
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in bone development IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lymph node development IEA
Inferred from Electronic Annotation
more info
 
involved_in lymphocyte migration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of eye pigmentation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of humoral immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in sphingosine-1-phosphate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein spinster homolog 2
Names
SPNS sphingolipid transporter 2
spinster homolog 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_001124758.3NP_001118230.1  protein spinster homolog 2

    See identical proteins and their annotated locations for NP_001118230.1

    Status: REVIEWED

    Source sequence(s)
    AC118754, BC041772, HY309474
    Consensus CDS
    CCDS42237.1
    UniProtKB/Swiss-Prot
    Q8IVW8
    Related
    ENSP00000333292.3, ENST00000329078.8
    Conserved Domains (2) summary
    cd06174
    Location:106486
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:108469
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    4498881..4539035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450574.1XP_024306342.1  protein spinster homolog 2 isoform X1

    Conserved Domains (1) summary
    cd06174
    Location:106486
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
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