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Camsap3 Gene Detail
Summary
  • Symbol
    Camsap3
  • Name
    calmodulin regulated spectrin-associated protein family, member 3
  • Synonyms
    2310057J16Rik, Nezha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916947
    NCBI Gene: 69697
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:3587299-3609075 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 1.92 cM, cytoband A1.1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    128 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916947
protein coding gene Chr8:3587293-3609075 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033308
protein coding gene Chr8:527823-554129 (+)
A/J MGP_AJ_G0033291
protein coding gene Chr8:501979-524656 (+)
AKR/J MGP_AKRJ_G0033222
protein coding gene Chr8:528146-553178 (+)
BALB/cJ MGP_BALBcJ_G0033291
protein coding gene Chr8:527640-549438 (+)
C3H/HeJ MGP_C3HHeJ_G0033005
protein coding gene Chr8:534704-565500 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033801
protein coding gene Chr8:574695-596320 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030774
protein coding gene Chr8:451091-475129 (+)
CAST/EiJ MGP_CASTEiJ_G0032328
protein coding gene Chr8:536517-559597 (+)
CBA/J MGP_CBAJ_G0032978
protein coding gene Chr8:579570-610794 (+)
DBA/2J MGP_DBA2J_G0033132
protein coding gene Chr8:472117-495923 (+)
FVB/NJ MGP_FVBNJ_G0033079
protein coding gene Chr8:520153-544446 (+)
LP/J MGP_LPJ_G0033224
protein coding gene Chr8:516403-538543 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033114
protein coding gene Chr8:561285-590147 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033819
protein coding gene Chr8:521754-546640 (+)
PWK/PhJ MGP_PWKPhJ_G0032038
protein coding gene Chr8:498140-523545 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031882
protein coding gene Chr8:513574-536633 (+)
WSB/EiJ MGP_WSBEiJ_G0032441
protein coding gene Chr8:519038-541463 (+)



Homology
more
  • Human Ortholog
    CAMSAP3, calmodulin regulated spectrin associated protein family member 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CAMSAP3, calmodulin regulated spectrin associated protein family member 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KIAA1543, NEZHA, PPP1R80
  • Links
    NCBI Gene ID: 57662
    neXtProt AC: NX_Q9P1Y5
    UniProt: Q9P1Y5

  • Chr Location
    19p13.2; chr19:7595902-7618310 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 2 alleles in 2 genetic backgrounds
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69697 NCBI Gene Model | MGI Sequence Detail 21777 C57BL/6J ±  kb
    transcript NM_001347111 RefSeq | MGI Sequence Detail 4391 C57BL/6  
    polypeptide Q80VC9 UniProt | EBI | MGI Sequence Detail 1252 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 53

      Microarray probesets 3
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 1
      Gene Ontology 10
      Phenotypes 12
    • 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:266552 Pongrakhananon V, et al., Loss of CAMSAP3 promotes EMT via the modification of microtubule-Akt machinery. J Cell Sci. 2018 Oct 29;131(21)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    03/13/2019
    MGI 6.13
    The Jackson Laboratory