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Spns2 Gene Detail
Summary
  • Symbol
    Spns2
  • Name
    spinster homolog 2
  • Synonyms
    MGC:37865
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384936
    NCBI Gene: 216892
Location & Maps
more
  • Sequence Map
    Chr11:72451638-72489904 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38267 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 44.31 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SPNS2, sphingolipid transporter 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SPNS2, sphingolipid transporter 2
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 124976
    neXtProt AC: NX_Q8IVW8

  • Chr Location
    17p13.2; chr17:4498834-4539933 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 6 alleles in 8 genetic backgrounds
    3 images
    23 phenotype references
Phenotype Overview

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
    10
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    8
  • Genomic Mutations
    2 involving Spns2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008085 VEGA Gene Model | MGI Sequence Detail 38267 C57BL/6J ±  kb
transcript OTTMUST00000018365 VEGA | MGI Sequence Detail 3241 Not Applicable  
polypeptide OTTMUSP00000008441 VEGA | MGI Sequence Detail 549 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    294 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015551 protein spinster homolog 2
  • InterPro Domains
    IPR011701 Major facilitator superfamily
    IPR020846 Major facilitator superfamily domain
Molecular
Reagents
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  • All nucleic 108
    cDNA 108

    Microarray probesets 2
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 23
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:228852 Chen J, et al., Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. PLoS Genet. 2014 Oct;10(10):e1004688

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory