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Septin12 Gene Detail
Summary
  • Symbol
    Septin12
  • Name
    septin 12
  • Synonyms
    1700028G04Rik, 4933413B09Rik, Sept12, Septin12
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918339
    NCBI Gene: 71089
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:4804722-4815716 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 2.49 cM, cytoband A1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    364 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918339
 protein coding gene Chr16:4804722-4815716 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022479
 protein coding gene Chr16:1510106-1521039 (-)
A/J MGP_AJ_G0022441
 protein coding gene Chr16:1318380-1330553 (-)
AKR/J MGP_AKRJ_G0022418
 protein coding gene Chr16:1513434-1524345 (-)
BALB/cJ MGP_BALBcJ_G0022446
 protein coding gene Chr16:1474201-1485211 (-)
C3H/HeJ MGP_C3HHeJ_G0022213
 protein coding gene Chr16:1535672-1548635 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022895
 protein coding gene Chr16:1594325-1605307 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020416
 protein coding gene Chr16:1243412-1254094 (-)
CAST/EiJ MGP_CASTEiJ_G0021739
 protein coding gene Chr16:1539655-1552119 (-)
CBA/J MGP_CBAJ_G0022182
 protein coding gene Chr16:1692585-1706963 (-)
DBA/2J MGP_DBA2J_G0022313
 protein coding gene Chr16:1421853-1432752 (-)
FVB/NJ MGP_FVBNJ_G0022288
 protein coding gene Chr16:1416453-1427396 (-)
LP/J MGP_LPJ_G0022381
 protein coding gene Chr16:1498563-1509610 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022310
 protein coding gene Chr16:1530880-1541778 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022907
 protein coding gene Chr16:1489345-1500272 (-)
PWK/PhJ MGP_PWKPhJ_G0021479
 protein coding gene Chr16:1495452-1506782 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021310
 protein coding gene Chr16:1576798-1587799 (-)
WSB/EiJ MGP_WSBEiJ_G0021788
 protein coding gene Chr16:1504023-1514932 (-)



Homology
more
  • Human Ortholog
    SEPTIN12, septin 12
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SEPTIN12, septin 12
  • Synonyms
    SEPT12, SPGF10
  • Links
    NCBI Gene ID: 124404
    neXtProt AC: NX_Q8IYM1
    UniProt: Q8IYM1

  • Chr Location
    16p13.3; chr16:4777606-4791828 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SEPTIN12 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 3 alleles in 3 genetic backgrounds
    8 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.
Male chimeras heterozygous for a null allele are sterile due to severe spermatogenic defects. Males homozygous for a different null allele are sterile and show oligospermia, asthenospermia, abnormal sperm morphology, and impaired egg activation and fertilization after intracytoplasmic sperm injection, whereas heterozygous males are fertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    2
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
    709
  • Tissues
    3
  • cDNA Data
    7
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 71089 NCBI Gene Model | MGI Sequence Detail 10995 C57BL/6J ±  kb
    transcript NM_027669 RefSeq | MGI Sequence Detail 2576 C57BL/6  
    polypeptide NP_001360874 RefSeq | MGI Sequence Detail 357 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR016491 Septin
      IPR030379 Septin-type guanine nucleotide-binding (G) domain
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 7
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1922898, MGI:6368829
    References
    more
    • Summaries
      All 28
      Developmental Gene Expression 2
      Gene Ontology 2
      Phenotypes 8
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:324492 Chen H, et al., Homozygous Loss of Septin12, but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure. Front Cell Dev Biol. 2022;10:850052
    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
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory