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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:9578279-9748954 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 4.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4137 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443727
 protein coding gene Chr15:9578279-9748954 (-)
129S1/SvImJ ENSMUSG00200032999
 protein coding gene Chr15:6558571-6729161 (-)
A/J ENSMUSG00195009796
 protein coding gene Chr15:6456252-6633392 (-)
AKR/J ENSMUSG00220022212
 protein coding gene Chr15:6394057-6565745 (-)
BALB/cJ ENSMUSG00180034585
 protein coding gene Chr15:6468329-6639033 (-)
C3H/HeJ ENSMUSG00175031465
 protein coding gene Chr15:6625688-6796356 (-)
C57BL/6NJ ENSMUSG00215018246
 protein coding gene Chr15:6505976-6676672 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019660
 protein coding gene Chr15:6001387-6164693 (-)
CAST/EiJ ENSTCUG00005024144
 protein coding gene Chr15:6574234-6746265 (-)
CBA/J ENSMUSG00210025154
 protein coding gene Chr15:6610734-6781374 (-)
DBA/2J ENSMUSG00185030990
 protein coding gene Chr15:6567727-6738392 (-)
FVB/NJ ENSMUSG00205022191
 protein coding gene Chr15:6447871-6625014 (-)
JF1/MsJ ENSUMUG00000031406
 protein coding gene Chr15:6662418-6840602 (-)
LP/J ENSMUSG00230014708
 protein coding gene Chr15:10051592-10222167 (-)
NOD/ShiLtJ ENSMUSG00190009693
 protein coding gene Chr15:6527016-6697626 (-)
NZO/HlLtJ ENSMUSG00225023997
 protein coding gene Chr15:10288065-10465177 (-)
PWK/PhJ ENSLUMG00010033833
 protein coding gene Chr15:6714088-6885934 (-)
SPRET/EiJ ENSMSPG00010029935
 protein coding gene Chr15:6702515-6873707 (-)
WSB/EiJ ENSIUOG00005028794
 protein coding gene Chr15:6518049-6689726 (-)



Homology
more
  • Human Ortholog
    SPEF2, sperm flagellar and cilia associated 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPEF2, sperm flagellar and cilia associated 2
  • Synonyms
    CT122, KPL2, SPGF43
  • Links
    NCBI Gene ID: 79925
    UniProt: Q9C093

  • Chr Location
    5p13.2; chr5:35617844-35814611 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spef2 mouse models; 1 with human SPEF2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    18 phenotypes from 1 allele in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    10 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.
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
    38
  • GO References
    10
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.
Expression
less
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
    597
  • cDNA Data
    7
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 36
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 10
      Phenotypes 10
    • 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:377759 Liu S, et al., Foxn3 is required to suppress aberrant ciliogenesis in nonphotoreceptor retinal neurons. Proc Natl Acad Sci U S A. 2025 Jul 22;122(29):e2500871122
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/15/2026
    MGI 6.29     		The Jackson Laboratory