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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:102505750-102546239 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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 Chr9:102505750-102546247 (+)
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
    7
  • Human Ortholog
    KY, kyphoscoliosis peptidase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MFM7
  • Links
    NCBI Gene ID: 339855
    neXtProt AC: NX_Q8NBH2
    UniProt: Q8NBH2

  • Chr Location
    3q22.2; chr3:134599923-134656053 (-)  GRCh38.p7

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
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  • Phenotype Summary
    23 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000035606 Ensembl Gene Model | MGI Sequence Detail 40490 C57BL/6J ±  kb
transcript ENSMUST00000039390 Ensembl | MGI Sequence Detail 5837 Not Applicable  
polypeptide ENSMUSP00000036032 Ensembl | 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 32
    Gene Ontology 3
    Phenotypes 10
  • 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)

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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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory