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Septin9 Gene Detail
Summary
  • Symbol
    Septin9
  • Name
    septin 9
  • Synonyms
    Msf, MSF1, PNUTL4, Sept9, Sint1, SL3-3 integration site 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858222
    NCBI Gene: 53860
  • Alliance
    gene page
  • Transcription Start Sites
    38 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:117090487-117253151 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 82.61 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    5050 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858222
 protein coding gene Chr11:117090487-117253151 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019446
 protein coding gene Chr11:121408468-121594644 (+)
A/J MGP_AJ_G0019414
 protein coding gene Chr11:116042648-116212045 (+)
AKR/J MGP_AKRJ_G0019384
 protein coding gene Chr11:119581227-119757064 (+)
BALB/cJ MGP_BALBcJ_G0019389
 protein coding gene Chr11:116421755-116591361 (+)
C3H/HeJ MGP_C3HHeJ_G0019195
 protein coding gene Chr11:119860279-120036914 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019838
 protein coding gene Chr11:125128960-125315782 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017463
 protein coding gene Chr11:113068808-113230397 (+)
CAST/EiJ MGP_CASTEiJ_G0018749
 protein coding gene Chr11:121286253-121458258 (+)
CBA/J MGP_CBAJ_G0019166
 protein coding gene Chr11:130018746-130224084 (+)
DBA/2J MGP_DBA2J_G0019278
 protein coding gene Chr11:115450288-115617087 (+)
FVB/NJ MGP_FVBNJ_G0019270
 protein coding gene Chr11:115060409-115229013 (+)
LP/J MGP_LPJ_G0019348
 protein coding gene Chr11:121747330-121932446 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019303
 protein coding gene Chr11:129064273-129243615 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019877
 protein coding gene Chr11:120224659-120400479 (+)
PWK/PhJ MGP_PWKPhJ_G0018514
 protein coding gene Chr11:116794805-116975126 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018307
 protein coding gene Chr11:119945639-120129342 (+)
WSB/EiJ MGP_WSBEiJ_G0018801
 protein coding gene Chr11:120178226-120359113 (+)



Homology
more
  • Human Ortholog
    SEPTIN9, septin 9
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SEPTIN9, septin 9
  • Synonyms
    AF17q25, MSF, MSF1, NAPB, PNUTL4, SEPT9, SeptD1, SINT1
  • Links
    NCBI Gene ID: 10801
    neXtProt AC: NX_Q9UHD8
    UniProt: Q9UHD8

  • Chr Location
    17q25.3; chr17:77280569-77500596 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SEPTIN9 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 3 alleles in 4 genetic backgrounds
    17 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 a targeted allele exhibit embryonic lethality around E10 with generalized apoptotic degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    6
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
    818
  • Tissues
    51
  • cDNA Data
    11
  • Literature Summary
    7
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 53860 NCBI Gene Model | MGI Sequence Detail 162665 C57BL/6J ±  kb
transcript NM_001113487 RefSeq | MGI Sequence Detail 3796 ZRU/MplStud  
polypeptide Q80UG5 UniProt | EBI | MGI Sequence Detail 583 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000014661 septin-9
    (term hierarchy)
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR016491 Septin
    IPR030379 Septin-type guanine nucleotide-binding (G) domain
    IPR005225 Small GTP-binding protein domain
  • GlyGen
    Q80UG5 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (3 sites)
Molecular
Reagents
less
  • All nucleic 19
    Genomic 1
    cDNA 11
    Primer pair 3
    Other 4

    Microarray probesets 3
Other
Accession IDs
less
MGI:6368840
References
more
  • Summaries
    All 48
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 17
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
  • Latest
    J:339068 Martens AK, et al., Targeted inactivation of the Septin2 and Septin9 genes in myelinating Schwann cells of mice. Cytoskeleton (Hoboken). 2022 Nov 15;
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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory