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Sept5 Gene Detail
Summary
  • Symbol
    Sept5
  • Name
    septin 5
  • Synonyms
    Cdcrel1, Pnutl1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1195461
    NCBI Gene: 18951
  • Gene Overview
    MyGene.info: SEPT5
Location & Maps
more
  • Sequence Map
    Chr16:18621811-18629938 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8128 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.53 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    SEPT5, septin 5
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SEPT5, septin 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDCREL, CDCREL1, CDCREL-1, H5, HCDCREL-1, PNUTL1
  • Links
    NCBI Gene ID: 5413
    neXtProt AC: NX_Q99719

  • Chr Location
    22q11.21; chr22:19714464-19723322 (+)  GRCh38.p2

Human Diseases
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  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 5 genetic backgrounds
    18 phenotypes from multigenic genotypes
    54 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.
  • All Mutations and Alleles
    13
  • Targeted
    11
  • Transgenic
    2
  • Genomic Mutations
    7 involving Sept5
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 18951 NCBI Gene Model | MGI Sequence Detail 8128 C57BL/6J ±  kb
transcript NM_213614 RefSeq | MGI Sequence Detail 2155 C57BL/6  
polypeptide Q9Z2Q6 UniProt | EBI | MGI Sequence Detail 369 Not Applicable  
For the selected sequence
Protein
Information
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Molecular
Reagents
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  • All nucleic 37
    Genomic 22
    cDNA 13
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGI:1298391
References
more
  • Summaries
    All 54
    Developmental Gene Expression 13
    Diseases 12
    Gene Ontology 7
    Phenotypes 54
  • 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:235630 Paronett EM, et al., Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation. Cereb Cortex. 2015 Oct;25(10):3977-93

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory