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Ky Gene Detail
Summary
  • Symbol
    Ky
  • Name
    kyphoscoliosis peptidase
  • Synonyms
    D9Mgc44e
  • Feature Type
    protein coding gene
  • IDs
    MGI:96709
    NCBI Gene: 16716
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:102382954-102423443 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 54.54 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    331 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96709
 protein coding gene Chr9:102382949-102423443 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035186
 protein coding gene Chr9:104069159-104110893 (+)
A/J MGP_AJ_G0035166
 protein coding gene Chr9:100331822-100372246 (+)
AKR/J MGP_AKRJ_G0035098
 protein coding gene Chr9:102806518-102847557 (+)
BALB/cJ MGP_BALBcJ_G0035159
 protein coding gene Chr9:100047905-100088317 (+)
C3H/HeJ MGP_C3HHeJ_G0034869
 protein coding gene Chr9:103214260-103254657 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035679
 protein coding gene Chr9:106980330-107021783 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032578
 protein coding gene Chr9:97928445-97968992 (+)
CAST/EiJ MGP_CASTEiJ_G0034181
 protein coding gene Chr9:103025620-103066476 (+)
CBA/J MGP_CBAJ_G0034838
 protein coding gene Chr9:110708673-110749634 (+)
DBA/2J MGP_DBA2J_G0034999
 protein coding gene Chr9:99834131-99875006 (+)
FVB/NJ MGP_FVBNJ_G0034947
 protein coding gene Chr9:98629942-98671252 (+)
LP/J MGP_LPJ_G0035075
 protein coding gene Chr9:104273381-104315221 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034986
 protein coding gene Chr9:112546535-112587257 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035701
 protein coding gene Chr9:103058887-103099338 (+)
PWK/PhJ MGP_PWKPhJ_G0033888
 protein coding gene Chr9:100070518-100111626 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033723
 protein coding gene Chr9:103092241-103133640 (+)
WSB/EiJ MGP_WSBEiJ_G0034301
 protein coding gene Chr9:102938188-102980706 (+)



Homology
more
  • Human Ortholog
    KY, kyphoscoliosis peptidase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KY, kyphoscoliosis peptidase
  • Synonyms
    MFM7
  • Links
    NCBI Gene ID: 339855
    neXtProt AC: NX_Q8NBH2
    UniProt: Q8NBH2

  • Chr Location
    3q22.2; chr3:134599923-134651636 (-)  GRCh38
  • MGI Vertebrate Homology
    Ky stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: KY
  • Gene Tree
    Ky
Human Diseases
more
  • Diseases
    1 with human KY associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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.
Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    5
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 16716 NCBI Gene Model | MGI Sequence Detail 40490 C57BL/6J ±  kb
    transcript NM_024291 RefSeq | MGI Sequence Detail 5514 ZRU/MplStud  
    polypeptide Q8C8H8 UniProt | EBI | MGI Sequence Detail 661 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 5
      cDNA 10
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11667, MGI:1330308
    References
    more
    • Summaries
      All 37
      Gene Ontology 5
      Phenotypes 13
    • Earliest
      J:5353 Dickinson AG, et al., Genetic kyphoscoliosis in mice. Lancet. 1973 May 26;1(813):1186
    • Latest
      J:263650 Jokl EJ, et al., Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy. Dis Model Mech. 2018 Jul 6;11(7):dmm033225
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory