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Klhl40 Gene Detail
Summary
  • Symbol
    Klhl40
  • Name
    kelch-like 40
  • Synonyms
    2310024D23Rik, Kbtbd5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919580
    NCBI Gene: 72330
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:121606673-121612884 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 72.61 cM, cytoband F4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    232 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919580
 protein coding gene Chr9:121606673-121612885 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035449
 protein coding gene Chr9:124733678-124744198 (+)
A/J MGP_AJ_G0035430
 protein coding gene Chr9:119983736-119989870 (+)
AKR/J MGP_AKRJ_G0035363
 protein coding gene Chr9:123181935-123188288 (+)
BALB/cJ MGP_BALBcJ_G0035426
 protein coding gene Chr9:119891974-119898210 (+)
C3H/HeJ MGP_C3HHeJ_G0035133
 protein coding gene Chr9:123640982-123647276 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035949
 protein coding gene Chr9:128151633-128157939 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032831
 protein coding gene Chr9:117146574-117152868 (+)
CAST/EiJ MGP_CASTEiJ_G0034438
 protein coding gene Chr9:123676069-123682203 (+)
CBA/J MGP_CBAJ_G0035101
 protein coding gene Chr9:132840125-132846380 (+)
DBA/2J MGP_DBA2J_G0035260
 protein coding gene Chr9:119426775-119433050 (+)
FVB/NJ MGP_FVBNJ_G0035207
 protein coding gene Chr9:118345547-118352134 (+)
LP/J MGP_LPJ_G0035339
 protein coding gene Chr9:125075995-125082318 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035248
 protein coding gene Chr9:133782043-133788316 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035968
 protein coding gene Chr9:123624156-123630361 (+)
PWK/PhJ MGP_PWKPhJ_G0034142
 protein coding gene Chr9:119886709-119893152 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033979
 protein coding gene Chr9:123735416-123750778 (+)
WSB/EiJ MGP_WSBEiJ_G0034558
 protein coding gene Chr9:123474149-123480413 (+)



Homology
more
  • Human Ortholog
    KLHL40, kelch like family member 40
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KLHL40, kelch like family member 40
  • Synonyms
    KBTBD5, NEM8, SRYP, SYRP
  • Links
    NCBI Gene ID: 131377
    neXtProt AC: NX_Q2TBA0
    UniProt: Q2TBA0

  • Chr Location
    3p22.1; chr3:42685537-42692544 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Klhl40 mouse models; 1 with human KLHL40 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
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    3 images
    9 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.
Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • 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
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
    909
  • Tissues
    68
  • cDNA Data
    18
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074001 Ensembl Gene Model | MGI Sequence Detail 6212 C57BL/6J ±  kb
    transcript ENSMUST00000098272 Ensembl | MGI Sequence Detail 2370 Not Applicable  
    polypeptide ENSMUSP00000095873 Ensembl | MGI Sequence Detail 621 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 20
      Primer pair 3
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 4
      Phenotypes 9
    • 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: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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory