Spns2 MGI Mouse Gene Detail - MGI:2384936 - SPNS lysolipid transporter 2, sphingosine-1-phosphate

Symbol

Spns2
Name

SPNS lysolipid transporter 2, sphingosine-1-phosphate
Synonyms

MGC:37865

Feature Type

protein coding gene
IDs

MGI:2384936
NCBI Gene: 216892
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:72342464-72380730 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 44.31 cM
Mapping Data

1 experiment

SNPs within 2kb

836 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384936	protein coding gene	Chr11:72342464-72380797 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018641	protein coding gene	Chr11:73075217-73113491 (-)
A/J	MGP_AJ_G0018609	protein coding gene	Chr11:70343600-70382467 (-)
AKR/J	MGP_AKRJ_G0018578	protein coding gene	Chr11:72495641-72533904 (-)
BALB/cJ	MGP_BALBcJ_G0018581	protein coding gene	Chr11:70647031-70685291 (-)
C3H/HeJ	MGP_C3HHeJ_G0018394	protein coding gene	Chr11:72455090-72495245 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019032	protein coding gene	Chr11:75294887-75333156 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016675	protein coding gene	Chr11:67177260-67215909 (-)
CAST/EiJ	MGP_CASTEiJ_G0017949	protein coding gene	Chr11:72818581-72856785 (-)
CBA/J	MGP_CBAJ_G0018366	protein coding gene	Chr11:78640905-78679167 (-)
DBA/2J	MGP_DBA2J_G0018475	protein coding gene	Chr11:69980875-70019044 (-)
FVB/NJ	MGP_FVBNJ_G0018466	protein coding gene	Chr11:69522897-69562318 (-)
LP/J	MGP_LPJ_G0018546	protein coding gene	Chr11:73587839-73626101 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018489	protein coding gene	Chr11:79183543-79226711 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019074	protein coding gene	Chr11:72683119-72721425 (-)
PWK/PhJ	MGP_PWKPhJ_G0017722	protein coding gene	Chr11:70604519-70642816 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017512	protein coding gene	Chr11:72397377-72435322 (-)
WSB/EiJ	MGP_WSBEiJ_G0018003	protein coding gene	Chr11:72433402-72473106 (-)

Human Ortholog

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

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

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

DFNB115, SLC62A2, SLC63A2
Links

HGNC:26992

NCBI Gene ID: 124976

neXtProt AC: NX_Q8IVW8

UniProt: Q8IVW8
Chr Location

17p13.2; chr17:4498881-4539035 (+) GRCh38

MGI Vertebrate Homology

Spns2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SPNS2
Gene Tree

Spns2

Diseases

1 with human SPNS2 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 115 IDs autosomal recessive nonsyndromic deafness 115 DOID:0111643 OMIM:618457

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

74 phenotypes from 6 alleles in 8 genetic backgrounds
3 images
41 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

14
Chemically induced (other)

1
Endonuclease-mediated

4
Targeted

9
Genomic Mutations

2 involving Spns2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit symblepharon and impaired egress of T and B cells from the thymus and bone marrow, respectively. Mice homozygous for a different knock-out allele exhibit abnormal immune system, abnormal eye morphology and absent pinna reflex.

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All GO Annotations

33
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

815
Tissues

22
cDNA Data

109
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase spns2

ZFIN spns2

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All Sequences

48
RefSeq

13
UniProt

3
CCDS

CCDS48841.1

Ensembl

ENSMUSG00000040447 (Evidence)
NCBI Gene

216892

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040447	Ensembl Gene Model \| MGI Sequence Detail	38267	C57BL/6J	± kb
transcript	ENSMUST00000045303	Ensembl \| MGI Sequence Detail	3241	Not Applicable
polypeptide	ENSMUSP00000044418	Ensembl \| MGI Sequence Detail	549	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000015551 sphingosine-1-phosphate transporter SPNS2

(term hierarchy)
InterPro Domains

IPR011701 Major facilitator superfamily

IPR020846 Major facilitator superfamily domain

IPR036259 MFS transporter superfamily

IPR044770 Protein spinster-like

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All nucleic 110

cDNA 109

Primer pair 1

Microarray probesets 2

Summaries

All 67

Developmental Gene Expression 3

Gene Ontology 13

Phenotypes 41
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Spns2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr109091	Chr11:72380779-72380805 (-)	-62 bp
Tssr109090	Chr11:72365868-72365896 (-)	14,848 bp
Tssr109089	Chr11:72365834-72365858 (-)	14,884 bp
Tssr109088	Chr11:72345265-72345300 (-)	35,447 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/05/2024 MGI 6.24