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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
  • Gene Overview
    MyGene.info: KLHL3
Location & Maps
more
  • Sequence Map
    Chr13:58004221-58113592 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      109372 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 30.92 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    KLHL3, kelch like family member 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    KLHL3, kelch like family member 3
    Orthology source: HomoloGene
  • Synonyms
    PHA2D
  • Links
    NCBI Gene ID: 26249
    neXtProt AC: NX_Q9UH77

  • Chr Location
    5q31; chr5:137617500-137736090 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Pseudohypoaldosteronism, Type Iid; PHA2D   OMIM: 614495 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
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    10 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
    8
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Targeted
    5
  • Genomic Mutations
    1 involving Klhl3
  • Incidental Mutations
Mice carrying a point mutation display salt-sensitive hypertension, hyperkalemia and metabolic acidosis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034604 VEGA Gene Model | MGI Sequence Detail 109372 C57BL/6J ±  kb
transcript OTTMUST00000087800 VEGA | MGI Sequence Detail 3156 Not Applicable  
polypeptide OTTMUSP00000047810 VEGA | MGI Sequence Detail 601 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1180 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 4
Other
Accession IDs
less
MGI:2145235, MGI:3711978
References
more
  • Summaries
    All 28
    Diseases 1
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:214330 Susa K, et al., Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice. Hum Mol Genet. 2014 Oct 1;23(19):5052-60

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
07/19/2016
MGI 6.04
The Jackson Laboratory