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Defb48 Gene Detail
Summary
  • Symbol
    Defb48
  • Name
    defensin beta 48
  • Synonyms
    EG432867
  • Feature Type
    protein coding gene
  • IDs
    MGI:3646223
    NCBI Gene: 432867
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:63214974-63221959 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 33.23 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    248 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3646223
 protein coding gene Chr14:63214973-63221959 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021451
 protein coding gene Chr14:57452970-57462814 (-)
A/J MGP_AJ_G0021410
 protein coding gene Chr14:56162580-56169481 (-)
AKR/J MGP_AKRJ_G0021386
 protein coding gene Chr14:58170347-58177317 (-)
BALB/cJ MGP_BALBcJ_G0021416
 protein coding gene Chr14:56122063-56129504 (-)
C3H/HeJ MGP_C3HHeJ_G0021193
 protein coding gene Chr14:57789705-57797610 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021855
 protein coding gene Chr14:60200819-60210868 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019395
 protein coding gene Chr14:54121848-54128701 (-)
CAST/EiJ MGP_CASTEiJ_G0020710
 protein coding gene Chr14:54233196-54241362 (-)
CBA/J MGP_CBAJ_G0021160
 protein coding gene Chr14:61959566-61967515 (-)
DBA/2J MGP_DBA2J_G0021283
 protein coding gene Chr14:55822055-55829410 (-)
FVB/NJ MGP_FVBNJ_G0021262
 protein coding gene Chr14:55242907-55250365 (-)
LP/J MGP_LPJ_G0021358
 protein coding gene Chr14:58483902-58491287 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021291
 protein coding gene Chr14:61260749-61267711 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021878
 protein coding gene Chr14:57312033-57319913 (-)
PWK/PhJ MGP_PWKPhJ_G0020454
 protein coding gene Chr14:52509345-52516523 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020287
 protein coding gene Chr14:53293135-53301451 (-)
WSB/EiJ MGP_WSBEiJ_G0020763
 protein coding gene Chr14:57632363-57640282 (-)



Homology
more
  • Human Ortholog
    DEFB109B, defensin beta 109B
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DEFB109B, defensin beta 109B
  • Synonyms
    DEF109P1B, DEFB109, DEFB109P1B, HBD9
  • Links
    NCBI Gene ID: 641517
    UniProt: Q30KR1

  • Chr Location
    8p23.1; chr8:7309535-7320096 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotype references
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    3
  • Genomic Mutations
    1 involving Defb48
  • Find Mice (IMSR)
    4 strains or lines available
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    1
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

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
    706
  • cDNA Data
    5
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 432867 NCBI Gene Model | MGI Sequence Detail 6986 C57BL/6J ±  kb
transcript NM_001037751 RefSeq | MGI Sequence Detail 444 C57BL/6  
polypeptide NP_001032840 RefSeq | MGI Sequence Detail 87 C57BL/6  
For the selected sequence
Protein
Information
less
  • UniProt
    1 Sequence
  • InterPro Domains
    IPR001855 Beta defensin type
Molecular
Reagents
less
  • All nucleic 5
    cDNA 5

    Microarray probesets 1
References
more
  • Summaries
    All 17
    Gene Ontology 1
    Phenotypes 5
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:156769 Amid C, et al., Manual annotation and analysis of the defensin gene cluster in the C57BL/6J mouse reference genome. BMC Genomics. 2009;10:606
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
11/12/2024
MGI 6.24 		The Jackson Laboratory