SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPNS2provided by HGNC
Official Full Name: SPNS lysolipid transporter 2, sphingosine-1-phosphateprovided by HGNC
Primary source: HGNC:HGNC:26992
See related: Ensembl:ENSG00000183018 MIM:612584; AllianceGenome:HGNC:26992
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: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4498881..4539035)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4388772..4428933)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4402176..4442330)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spinster homolog 2 reduces malignancies of glioblastoma via PTEN/PI3K/AKT pathway.
Title: Spinster homolog 2 reduces malignancies of glioblastoma via PTEN/PI3K/AKT pathway.
Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis.
Title: Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis.
Structural and functional insights into Spns2-mediated transport of sphingosine-1-phosphate.
Title: Structural and functional insights into Spns2-mediated transport of sphingosine-1-phosphate.
Iron Deficiency Increases Phosphorylation of SP1 to Upregulate SPNS2 Expression in Hepatocellular Carcinoma.
Title: Iron Deficiency Increases Phosphorylation of SP1 to Upregulate SPNS2 Expression in Hepatocellular Carcinoma.
Long non-coding RNA HOXA-AS3 facilitates the malignancy in colorectal cancer by miR-4319/SPNS2 axis.
Title: Long non-coding RNA HOXA-AS3 facilitates the malignancy in colorectal cancer by miR-4319/SPNS2 axis.
Prognostic Significance of Cytoplasmic SPNS2 Expression in Patients with Oral Squamous Cell Carcinoma.
Title: Prognostic Significance of Cytoplasmic SPNS2 Expression in Patients with Oral Squamous Cell Carcinoma.
SPNS2 promotes the malignancy of colorectal cancer cells via regulating Akt and ERK pathway.
Title: SPNS2 promotes the malignancy of colorectal cancer cells via regulating Akt and ERK pathway.
A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree.
Title: Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
Spinster 2 (SPNS2) was shown to act as a mediator of intracellular sphingosine-1-phosphate (S1P) release and play an important role in the regulation of S1P [Review].
Title: Biological function of SPNS2: From zebrafish to human.
our data demonstrate that Spns2 and S1P have a crucial effect on proximal tubular epithelial cells by regulating an inflammatory process and a subsequent fibrotic reaction, and also by influencing other tubular transporters that are involved in the pathophysiology of inflammatory and fibrotic kidney diseases.
Title: Downregulation of the S1P Transporter Spinster Homology Protein 2 (Spns2) Exerts an Anti-Fibrotic and Anti-Inflammatory Effect in Human Renal Proximal Tubular Epithelial Cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

Associated conditions

Description	Tests
Hearing loss, autosomal recessive 115 MedGen: C5193108 OMIM: 618457 GeneReviews: Not available	Compare labs

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sphingolipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor 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	IBA Inferred from Biological aspect of Ancestor 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 T cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of eye pigmentation	IEA Inferred from Electronic Annotation more info
involved_in regulation of humoral immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in sphingolipid biosynthetic process	TAS Traceable Author Statement more info
involved_in sphingosine-1-phosphate receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingosine-1-phosphate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity 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
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sphingosine-1-phosphate transporter SPNS2

Names: SPNS sphingolipid transporter 2; protein spinster homolog 2; solute carrier family 63 member 2; 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)

NM_001124758.3 → NP_001118230.1 sphingosine-1-phosphate transporter SPNS2

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

B9A1T3, Q8IVW8

Related

ENSP00000333292.3, ENST00000329078.8

Conserved Domains (2) summary

cd06174
Location:106 → 486

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:108 → 469

MFS_1; Major Facilitator Superfamily