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Septin5 Gene Detail
Summary
  • Symbol
    Septin5
  • Name
    septin 5
  • Synonyms
    Cdcrel1, Pnutl1, Sept5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1195461
    NCBI Gene: 18951
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:18440561-18448688 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 11.53 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1195461
 protein coding gene Chr16:18439252-18448704 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022616
 protein coding gene Chr16:15864401-15874342 (-)
A/J MGP_AJ_G0022577
 protein coding gene Chr16:15073130-15081258 (-)
AKR/J MGP_AKRJ_G0022554
 protein coding gene Chr16:15673721-15681846 (-)
BALB/cJ MGP_BALBcJ_G0022582
 protein coding gene Chr16:15224692-15232817 (-)
C3H/HeJ MGP_C3HHeJ_G0022349
 protein coding gene Chr16:15829715-15837830 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023031
 protein coding gene Chr16:16152442-16160563 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020551
 protein coding gene Chr16:15108939-15117009 (-)
CAST/EiJ MGP_CASTEiJ_G0021876
 protein coding gene Chr16:15737388-15745539 (-)
CBA/J MGP_CBAJ_G0022318
 protein coding gene Chr16:16874379-16882488 (-)
DBA/2J MGP_DBA2J_G0022450
 protein coding gene Chr16:14988040-14996159 (-)
FVB/NJ MGP_FVBNJ_G0022425
 protein coding gene Chr16:15049080-15057189 (-)
LP/J MGP_LPJ_G0022517
 protein coding gene Chr16:15615877-15623990 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022447
 protein coding gene Chr16:16485839-16493952 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023042
 protein coding gene Chr16:15605305-15613410 (-)
PWK/PhJ MGP_PWKPhJ_G0021618
 protein coding gene Chr16:15260513-15268715 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021446
 protein coding gene Chr16:15558548-15566681 (-)
WSB/EiJ MGP_WSBEiJ_G0021922
 protein coding gene Chr16:15600561-15608687 (-)



Homology
more
  • Human Ortholog
    SEPTIN5, septin 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SEPTIN5, septin 5
  • Synonyms
    CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, SEPT5, Septin-5
  • Links
    NCBI Gene ID: 5413
    neXtProt AC: NX_Q99719
    UniProt: Q99719

  • Chr Location
    22q11.21; chr22:19714503-19724224 (+)  GRCh38
Human Diseases
less
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 5 genetic backgrounds
    4 phenotypes from multigenic genotypes
    140 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 disruptions in this gene show no gross phenotypic changes. Partial defects in synaptic transmission is reported for one allele, and platelet secretion and modest behavioral defects reported for a different allele.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    47
  • GO References
    14
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
    1343
  • Tissues
    228
  • cDNA Data
    12
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18951 NCBI Gene Model | MGI Sequence Detail 8128 C57BL/6J ±  kb
    transcript NM_213614 RefSeq | MGI Sequence Detail 2155 ZRU/MplStud  
    polypeptide Q9Z2Q6 UniProt | EBI | MGI Sequence Detail 369 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 22
      cDNA 16
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1298391, MGI:6368834
    References
    more
    • Summaries
      All 183
      Developmental Gene Expression 16
      Diseases 6
      Gene Ontology 14
      Phenotypes 140
    • Earliest
      J:43674 McKie JM, et al., A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. Hum Genet. 1997 Nov;101(1):6-12
    • Latest
      J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory