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Klhl3 Gene Detail
Summary
  • Symbol
    Klhl3
  • Name
    kelch-like 3
  • Synonyms
    7530408C15Rik, EG627648
  • Feature Type
    protein coding gene
  • IDs
    MGI:2445185
    NCBI Gene: 100503085
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:58148042-58261406 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 13, 30.92 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1120 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2445185
protein coding gene Chr13:58148040-58271288 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020626
protein coding gene Chr13:57628304-57744318 (-)
A/J MGP_AJ_G0020580
protein coding gene Chr13:55486537-55595700 (-)
AKR/J MGP_AKRJ_G0020558
protein coding gene Chr13:57131251-57247958 (-)
BALB/cJ MGP_BALBcJ_G0020576
protein coding gene Chr13:55732704-55845869 (-)
C3H/HeJ MGP_C3HHeJ_G0020375
protein coding gene Chr13:56936694-57052959 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021010
protein coding gene Chr13:59392236-59509801 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018592
protein coding gene Chr13:53396216-53504282 (-)
CAST/EiJ MGP_CASTEiJ_G0019889
protein coding gene Chr13:57070873-57187776 (-)
CBA/J MGP_CBAJ_G0020335
protein coding gene Chr13:61643323-61755442 (-)
DBA/2J MGP_DBA2J_G0020458
protein coding gene Chr13:55028657-55137624 (-)
FVB/NJ MGP_FVBNJ_G0020437
protein coding gene Chr13:54511745-54623657 (-)
LP/J MGP_LPJ_G0020534
protein coding gene Chr13:57897643-58010814 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020466
protein coding gene Chr13:61014573-61125791 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021053
protein coding gene Chr13:56740896-56852834 (-)
PWK/PhJ MGP_PWKPhJ_G0019645
protein coding gene Chr13:55032704-55142684 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019472
protein coding gene Chr13:55652443-55765258 (-)
WSB/EiJ MGP_WSBEiJ_G0019951
protein coding gene Chr13:57124309-57242055 (-)



Homology
more
  • Human Ortholog
    KLHL3, kelch like family member 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KLHL3, kelch like family member 3
  • Synonyms
    PHA2D
  • Links
    NCBI Gene ID: 26249
    neXtProt AC: NX_Q9UH77
    UniProt: Q9UH77

  • Chr Location
    5q31.2; chr5:137617500-137736089 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Klhl3 mouse models; 1 with human KLHL3 associations

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 4 alleles in 4 genetic backgrounds
    20 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.
Mice carrying a point mutation display salt-sensitive hypertension, hyperkalemia and metabolic acidosis.
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000014164 Ensembl Gene Model | MGI Sequence Detail 113365 C57BL/6J ±  kb
    transcript ENSMUST00000160860 Ensembl | MGI Sequence Detail 7149 Not Applicable  
    polypeptide ENSMUSP00000123701 Ensembl | MGI Sequence Detail 587 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2145235, MGI:3711978
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 9
      Phenotypes 20
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:335611 Lin CM, et al., Generation and analysis of pseudohypoaldosteronism type II knock-in mice caused by a nonsense KLHL3 mutation in the Kelch domain. FASEB J. 2022 Jun;36(6):e22363

    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)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory