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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
  • Gene Overview
    MyGene.info: DSG1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20376729-20410196 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 11.32 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    134 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 Chr18:20376729-20412183 (.)
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
    8
  • Human Ortholog
    DSG1, desmoglein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1
  • Links
    NCBI Gene ID: 1828
    neXtProt AC: NX_Q02413
    UniProt: Q02413

  • Chr Location
    18q12.1; chr18:31318089-31359246 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    4 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.
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 death
cell differentiation
cell 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 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 29
      Developmental Gene Expression 7
      Gene Ontology 6
      Phenotypes 4
    • 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:238698 Kasparek P, et al., KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. PLoS Genet. 2017 Jan;13(1):e1006566

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory