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Kbtbd13 Gene Detail
Summary
  • Symbol
    Kbtbd13
  • Name
    kelch repeat and BTB (POZ) domain containing 13
  • Synonyms
    5430433E21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921742
    NCBI Gene: 74492
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr9:65295966-65298934 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 35.28 cM, cytoband D
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    24 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921742
 protein coding gene Chr9:65295965-65299000 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034956
 protein coding gene Chr9:65118907-65121875 (-)
A/J MGP_AJ_G0034936
 protein coding gene Chr9:62924795-62927763 (-)
AKR/J MGP_AKRJ_G0034866
 protein coding gene Chr9:64413541-64416509 (-)
BALB/cJ MGP_BALBcJ_G0034929
 protein coding gene Chr9:62648833-62651801 (-)
C3H/HeJ MGP_C3HHeJ_G0034639
 protein coding gene Chr9:64945691-64948659 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035448
 protein coding gene Chr9:66900454-66903422 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032359
 protein coding gene Chr9:62573603-62576567 (-)
CAST/EiJ MGP_CASTEiJ_G0033960
 protein coding gene Chr9:65131165-65134136 (-)
CBA/J MGP_CBAJ_G0034610
 protein coding gene Chr9:69232270-69235238 (-)
DBA/2J MGP_DBA2J_G0034769
 protein coding gene Chr9:62695764-62698732 (-)
FVB/NJ MGP_FVBNJ_G0034711
 protein coding gene Chr9:62018421-62021389 (-)
LP/J MGP_LPJ_G0034852
 protein coding gene Chr9:65399305-65402273 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034753
 protein coding gene Chr9:70457808-70460776 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035470
 protein coding gene Chr9:64514538-64517506 (-)
PWK/PhJ MGP_PWKPhJ_G0033664
 protein coding gene Chr9:62899328-62902298 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033498
 protein coding gene Chr9:64799803-64802753 (-)
WSB/EiJ MGP_WSBEiJ_G0034073
 protein coding gene Chr9:64415487-64418455 (-)



Homology
more
  • Human Ortholog
    KBTBD13, kelch repeat and BTB domain containing 13
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KBTBD13, kelch repeat and BTB domain containing 13
  • Synonyms
    HCG1645727, NEM6
  • Links
    NCBI Gene ID: 390594
    neXtProt AC: NX_C9JR72
    UniProt: C9JR72

  • Chr Location
    15q22.31; chr15:65076746-65079948 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kbtbd13 mouse models; 1 with human KBTBD13 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 1 genetic background
    5 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.
Homozygosity for a specific point mutation increases muscle weight and slows muscle relaxation kinetics.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    4
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
    706
  • cDNA Data
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000054978 Ensembl Gene Model | MGI Sequence Detail 2969 C57BL/6J ±  kb
    transcript ENSMUST00000068307 Ensembl | MGI Sequence Detail 2969 Not Applicable  
    polypeptide ENSMUSP00000136872 Ensembl | MGI Sequence Detail 458 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 3
    References
    more
    • Summaries
      All 27
      Diseases 1
      Gene Ontology 4
      Phenotypes 5
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:295442 de Winter JM, et al., KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020 Feb 3;130(2):754-767
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory