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Defb47 Gene Detail
Summary
  • Symbol
    Defb47
  • Name
    defensin beta 47
  • Feature Type
    protein coding gene
  • IDs
    MGI:3644478
    NCBI Gene: 654465
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:63235526-63238609 bp, + strand
    From Ensembl 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
    190 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3644478
 protein coding gene Chr14:63229824-63238629 (+)
129S1/SvImJ ENSMUSG00200026630
 protein coding gene Chr14:51836315-51839382 (+)
A/J ENSMUSG00195029918
 protein coding gene Chr14:52017306-52020381 (+)
AKR/J ENSMUSG00220028472
 protein coding gene Chr14:51364719-51367791 (+)
BALB/cJ ENSMUSG00180032714
 protein coding gene Chr14:51639212-51642284 (+)
C3H/HeJ ENSMUSG00175032859
 protein coding gene Chr14:53372146-53375213 (+)
C57BL/6NJ ENSMUSG00215045712
 protein coding gene Chr14:51562787-51565870 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019396
 protein coding gene Chr14:54141503-54144345 (+)
CAST/EiJ ENSTCUG00005038395
 protein coding gene Chr14:53298718-53301774 (+)
CBA/J ENSMUSG00210032450
 protein coding gene Chr14:52005223-52008297 (+)
DBA/2J ENSMUSG00185031011
 protein coding gene Chr14:57169942-57173009 (+)
FVB/NJ ENSMUSG00205025529
 protein coding gene Chr14:51522731-51525808 (+)
JF1/MsJ ENSUMUG00000042590
 protein coding gene Chr14:68362254-68365311 (+)
LP/J ENSMUSG00230033283
 protein coding gene Chr14:69199518-69202585 (+)
NOD/ShiLtJ ENSMUSG00190029983
 protein coding gene Chr14:51799957-51803031 (+)
NZO/HlLtJ ENSMUSG00225045318
 protein coding gene Chr14:59542112-59545184 (+)
PWK/PhJ ENSLUMG00010045980
 protein coding gene Chr14:51248690-51251747 (+)
SPRET/EiJ ENSMSPG00010030183
 protein coding gene Chr14:54732207-54735259 (+)
WSB/EiJ ENSIUOG00005036016
 protein coding gene Chr14:51246194-51249269 (+)



Homology
more
  • Human Ortholog
    DEFB130A, defensin beta 130A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DEFB130A, defensin beta 130A
  • Synonyms
    DEFB130, DEFB130L, DEFB-30, DEFB30
  • Links
    NCBI Gene ID: 245940
    UniProt: P0DP74

  • Chr Location
    8p23.1
  • Human Ortholog
    DEFB130B, defensin beta 130B
  • Links
    NCBI Gene ID: 100133267
    UniProt: P0DP73

  • Chr Location
    8p23.1; chr8:12064389-12071747 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    11 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.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    2
  • Gene trapped
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Defb47
  • Find Mice (IMSR)
    8 strains or lines available
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    2
  • GO References
    2
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
    601
  • Tissues
    3
  • cDNA Data
    2
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000075573 Ensembl Gene Model | MGI Sequence Detail 3084 C57BL/6J ±  kb
transcript ENSMUST00000100492 Ensembl | MGI Sequence Detail 359 Not Applicable  
polypeptide ENSMUSP00000098061 Ensembl | MGI Sequence Detail 79 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    2 Sequences
  • GlyGen
    Q30KN1 1 site
Molecular
Reagents
less
  • All nucleic 2
    cDNA 2

    Microarray probesets 1
References
more
  • Summaries
    All 25
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 11
  • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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
09/01/2026
MGI 6.24 		The Jackson Laboratory