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Dsg1b Gene Detail
Summary
  • Symbol
    Dsg1b
  • Name
    desmoglein 1 beta
  • Synonyms
    Dsg5
  • Feature Type
    protein coding gene
  • IDs
    MGI:2664357
    NCBI Gene: 225256
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20509786-20543253 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.32 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    133 from dbSNP Build 142
  • Strain Annotations
    8
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2664357
 protein coding gene Chr18:20509786-20545240 (+)
129S1/SvImJ no annotation
A/J no annotation
AKR/J MGP_AKRJ_G0024110
 protein coding gene Chr18:18014140-18056780 (+)
BALB/cJ MGP_BALBcJ_G0024141
 protein coding gene Chr18:17326522-17426474 (+)
C3H/HeJ MGP_C3HHeJ_G0023909
 protein coding gene Chr18:17744784-17894462 (+)
C57BL/6NJ no annotation
CAROLI/EiJ MGP_CAROLIEiJ_G0022024
 protein coding gene Chr18:16458362-16495436 (+)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J MGP_DBA2J_G0024009
 protein coding gene Chr18:17060490-17093761 (+)
FVB/NJ MGP_FVBNJ_G0023974
 protein coding gene Chr18:16989117-17026062 (+)
LP/J no annotation
NOD/ShiLtJ MGP_NODShiLtJ_G0024003
 protein coding gene Chr18:20114583-20215364 (+)
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    DSG1, desmoglein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DSG1, desmoglein 1
  • Synonyms
    CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1
  • Links
    NCBI Gene ID: 1828
    neXtProt AC: NX_Q02413
    UniProt: Q02413

  • Chr Location
    18q12.1; chr18:31318160-31359246 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DSG1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    6 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    7
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
    729
  • Tissues
    17
  • cDNA Data
    3
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000061928 Ensembl Gene Model | MGI Sequence Detail 33468 C57BL/6J ±  kb
    transcript ENSMUST00000076737 Ensembl | MGI Sequence Detail 3965 Not Applicable  
    polypeptide ENSMUSP00000076026 Ensembl | MGI Sequence Detail 1060 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 4
      cDNA 3
      Primer pair 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 9
      Gene Ontology 7
      Phenotypes 6
    • Earliest
      J:83058 Ciani L, et al., Mice Lacking the Giant Protocadherin mFAT1 Exhibit Renal Slit Junction Abnormalities and a Partially Penetrant Cyclopia and Anophthalmia Phenotype. Mol Cell Biol. 2003 May;23(10):3575-82
    • Latest
      J:332406 Hegazy M, et al., Epidermal stratification requires retromer-mediated desmoglein-1 recycling. Dev Cell. 2022 Dec 19;57(24):2683-2698.e8
    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
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory