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Spef2 Gene Detail
Summary
  • Symbol
    Spef2
  • Name
    sperm flagellar 2
  • Synonyms
    C230086A09Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443727
    NCBI Gene: 320277
  • Gene Overview
    MyGene.info: SPEF2
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:9578193-9748868 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 4.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    597 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443727
protein coding gene Chr15:9578193-9748868 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021717
protein coding gene Chr15:6676086-6858322 (-)
A/J MGP_AJ_G0021677
protein coding gene Chr15:6493864-6662752 (-)
AKR/J MGP_AKRJ_G0021655
protein coding gene Chr15:6643471-6835748 (-)
BALB/cJ MGP_BALBcJ_G0021684
protein coding gene Chr15:6405897-6581079 (-)
C3H/HeJ MGP_C3HHeJ_G0021460
protein coding gene Chr15:6592703-6770999 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022123
protein coding gene Chr15:6914195-7112074 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019660
protein coding gene Chr15:6001387-6164693 (-)
CAST/EiJ MGP_CASTEiJ_G0020976
protein coding gene Chr15:6663264-6849351 (-)
CBA/J MGP_CBAJ_G0021429
protein coding gene Chr15:7062417-7261821 (-)
DBA/2J MGP_DBA2J_G0021553
protein coding gene Chr15:6373949-6550220 (-)
FVB/NJ MGP_FVBNJ_G0021531
protein coding gene Chr15:6265515-6435703 (-)
LP/J MGP_LPJ_G0021621
protein coding gene Chr15:6592118-6776670 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021556
protein coding gene Chr15:7296338-7528078 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022146
protein coding gene Chr15:6621513-6806805 (-)
PWK/PhJ MGP_PWKPhJ_G0020719
protein coding gene Chr15:6512515-6697311 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020557
protein coding gene Chr15:6576105-6761742 (-)
WSB/EiJ MGP_WSBEiJ_G0021032
protein coding gene Chr15:6627760-6810380 (-)



Homology
more
  • Human Ortholog
    SPEF2, sperm flagellar 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SPEF2, sperm flagellar 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CT122, KPL2
  • Links
    NCBI Gene ID: 79925
    neXtProt AC: NX_Q9C093
    UniProt: Q9C093

  • Chr Location
    5p13.2; chr5:35617773-35814611 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 23371
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SPEF2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Spef2 mouse models

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 2 genetic backgrounds
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 320277 NCBI Gene Model | MGI Sequence Detail 170676 C57BL/6J ±  kb
transcript NM_001305042 RefSeq | MGI Sequence Detail 5565 C57BL/6  
polypeptide Q8C9J3 UniProt | EBI | MGI Sequence Detail 1724 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 12
References
more
  • Summaries
    All 23
    Diseases 1
    Gene Ontology 3
    Phenotypes 7
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:264497 Lehti MS, et al., Cilia-related protein SPEF2 regulates osteoblast differentiation. Sci Rep. 2018 Jan 16;8(1):859

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory