Camsap3 MGI Mouse Gene Detail - MGI:1916947 - calmodulin regulated spectrin-associated protein family, member 3

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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
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:3637293-3659075 bp, + strand
    From Ensembl annotation of GRCm39
  • 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
    458 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 Chr8:3637237-3659075 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CAMSAP3, calmodulin regulated spectrin associated protein family member 3
  • Synonyms
    KIAA1543, NEZHA, PPP1R80
  • Links
    NCBI Gene ID: 57662
    UniProt: Q9P1Y5

  • Chr Location
    19p13.2; chr19:7595863-7618304 (+) GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    49 phenotypes from 2 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    18 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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.
Homozygous null mice show variable vascular, liver, nervous system, rib and eye defects. Homozygotes for an allele disrupting microtubule binding show partial lethality, small body size, abnormal microtubule alignment in polarized epithelial cells, and multiple axon formation in hippocampal neurons.
Gene Ontology
(GO)
Classifications
less
  • 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 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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    6
  • Comparison Matrix
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000044433 Ensembl Gene Model | MGI Sequence Detail 21783 C57BL/6J ± kb
    transcript ENSMUST00000207432 Ensembl | MGI Sequence Detail 3865 Not Applicable
    polypeptide ENSMUSP00000146896 Ensembl | MGI Sequence Detail 1279 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 53

      Microarray probesets 3
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 6
      Gene Ontology 16
      Phenotypes 18
    • 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:360974 Bayam E, et al., Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome. EMBO Mol Med. 2025 Jan;17(1):129-168
    TSS for Camsap3:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr76059 Chr8:3637445-3637487 (+) 173 bp
    Tssr76060 Chr8:3637610-3637637 (+) 331 bp
    Tssr76061 Chr8:3637640-3637687 (+) 371 bp
    Tssr76062 Chr8:3637697-3637711 (+) 411 bp
    Tssr76063 Chr8:3637784-3637802 (+) 500 bp
    Tssr76064 Chr8:3646520-3646524 (+) 9,229 bp
    Tssr76065 Chr8:3648315-3648325 (+) 11,027 bp
    Tssr76066 Chr8:3648339-3648349 (+) 11,051 bp
    Tssr76067 Chr8:3648354-3648369 (+) 11,069 bp
    Tssr76068 Chr8:3648371-3648401 (+) 11,093 bp
    Tssr76069 Chr8:3648443-3648454 (+) 11,156 bp
    Tssr76070 Chr8:3648593-3648614 (+) 11,311 bp
    Tssr76071 Chr8:3648642-3648671 (+) 11,364 bp
    Tssr76072 Chr8:3649521-3649571 (+) 12,253 bp
    Tssr76073 Chr8:3650651-3650683 (+) 13,374 bp
    Tssr76074 Chr8:3653364-3653406 (+) 16,092 bp
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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