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

Homo sapiens

Also known as DFNB115; SLC62A2; SLC63A2

Gene ID: 124976 | Gene type: protein coding

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	Reference	Source
enables sphingolipid transporter activity	IDA IDA: Inferred from direct assay	21084291	GOA

Biological Process GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149004	SLF1081851	Inhibitor	98.11%	Unkown
HY-150254A	SLB1122168 formic	Inhibitor	99.91%	Unkown
HY-162655	SLF80821178		99.70%	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-RS13691	SPNS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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