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Cby1 Gene Detail
Summary
  • Symbol
    Cby1
  • Name
    chibby family member 1, beta catenin antagonist
  • Synonyms
    1110014P06Rik, arb1, Pgea1, PGEA14
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920989
    NCBI Gene: 73739
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:79543437-79551861 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 37.84 cM, cytoband E2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    320 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920989
 protein coding gene Chr15:79543400-79551861 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022080
 protein coding gene Chr15:79956864-79967441 (+)
A/J MGP_AJ_G0022041
 protein coding gene Chr15:77188119-77196411 (+)
AKR/J MGP_AKRJ_G0022016
 protein coding gene Chr15:79346044-79356538 (+)
BALB/cJ MGP_BALBcJ_G0022047
 protein coding gene Chr15:77203750-77212168 (+)
C3H/HeJ MGP_C3HHeJ_G0021818
 protein coding gene Chr15:79336694-79345102 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022490
 protein coding gene Chr15:83096875-83106397 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020020
 protein coding gene Chr15:73663704-73672526 (+)
CAST/EiJ MGP_CASTEiJ_G0021339
 protein coding gene Chr15:80044569-80052966 (+)
CBA/J MGP_CBAJ_G0021783
 protein coding gene Chr15:85679872-85688633 (+)
DBA/2J MGP_DBA2J_G0021912
 protein coding gene Chr15:76675822-76684195 (+)
FVB/NJ MGP_FVBNJ_G0021890
 protein coding gene Chr15:75700843-75709739 (+)
LP/J MGP_LPJ_G0021980
 protein coding gene Chr15:80144071-80152476 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021910
 protein coding gene Chr15:90781215-90790605 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022504
 protein coding gene Chr15:79367263-79376249 (+)
PWK/PhJ MGP_PWKPhJ_G0021081
 protein coding gene Chr15:76686154-76694606 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020918
 protein coding gene Chr15:79167169-79177572 (+)
WSB/EiJ MGP_WSBEiJ_G0021391
 protein coding gene Chr15:79754250-79762628 (+)



Homology
more
  • Human Ortholog
    CBY1, chibby 1, beta catenin antagonist
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CBY1, chibby 1, beta catenin antagonist
  • Synonyms
    arb1, C22orf2, CBY, Chibby1, HS508I15A, PGEA1, PIGEA-14, PIGEA14
  • Links
    NCBI Gene ID: 25776
    neXtProt AC: NX_Q9Y3M2
    UniProt: Q9Y3M2

  • Chr Location
    22q13.1; chr22:38656636-38673854 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cby1 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 1 allele in 2 genetic backgrounds
    3 images
    36 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.
Most homozygous null mice are anemic and runted and die around weaning. Survivors develop sinusitis and otitis due to lack of mucociliary transport and a paucity of airway cilia. Adult lungs show enlarged alveoli, reduced proliferation, epithelial cell dysmorphology and reduced pulmonary function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    9
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
non-membrane-bounded 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
    722
  • Tissues
    7
  • cDNA Data
    42
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 73739 NCBI Gene Model | MGI Sequence Detail 8425 C57BL/6J ±  kb
    transcript NM_001418672 RefSeq | MGI Sequence Detail 1194 C57BL/6  
    polypeptide Q9D1C2 UniProt | EBI | MGI Sequence Detail 127 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 42
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 9
      Phenotypes 36
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:311537 Guo L, et al., DZIP1 regulates mammalian cardiac valve development through a Cby1-beta-catenin mechanism. Dev Dyn. 2021 Oct;250(10):1432-1449
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory