SPNS2 - SPNS lysolipid transporter 2, sphingosine-1-phosphate Gene

Also Known as DFNB115; SLC62A2; SLC63A2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 124976

About SPNS2

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,498,881-4,539,035 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in esophagus (RPKM 28.9), kidney (RPKM 26.3) and 23 other tissues.

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]

SPNS2 Products (1)

mRNA Protein Name
NM_001124758.3 NP_001118230.1 sphingosine-1-phosphate transporter SPNS2

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables sphingolipid transporter activity IDA
IDA: Inferred from direct assay
21084291 GOA
Biological Process GO Annotation Evidence References Source
involved in lipid transport IDA
IDA: Inferred from direct assay
21084291 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPNS2 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (109 - 470)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 549 a.a.
Protein Preferred Names Protein Names

sphingosine-1-phosphate transporter SPNS2

protein spinster homolog 2

  • SPNS sphingolipid transporter 2

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 115

  • DFNB115

  • Autosomal Recessive Nonsyndromic Deafness 115

  • Autosomal Recessive Deafness 115

  • Deafness, Autosomal Recessive, 115
Sensorineural Hearing Loss

  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency
Ichthyosis

  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (15)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-149004 SLF1081851 Inhibitor 98.02% Unkown
HY-162655 SLF80821178 Inhibitor 99.70% Unkown
HY-150254A SLB1122168 formic Inhibitor 99.91% Unkown
HY-150254 SLB1122168 Inhibitor / Unkown
HY-149004A SLF1081851 TFA Inhibitor / Unkown
HY-149004B SLF1081851 hydrochloride / Unkown
HY-156408 Spns2-IN-1 Inhibitor / Unkown
HY-162655A SLF80821178 hydrochloride Inhibitor / Unkown
HY-162996 Spns2-IN-2 Inhibitor / Unkown
HY-176500 Spns2-IN-3 Inhibitor / Unkown
HY-182375 (R)-SLB1122168 free base Inhibitor / Unkown
HY-182375A SLB1122168 free base Inhibitor / Unkown
HY-RS13691 SPNS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19483 Spns2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25976 Spns2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SPNS2 VGNC VGNC:78003
Felis catus SPNS2 VGNC VGNC:65642
Bos taurus SPNS2 VGNC VGNC:108134
Rattus norvegicus SPNS2 RGD RGD:2303312
Mus musculus SPNS2 MGD MGI:2384936
Others SPNS2 NCBI