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Cst6 Gene Detail
Summary
  • Symbol
    Cst6
  • Name
    cystatin E/M
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920970
    NCBI Gene: 73720
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:5394733-5399602 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 4.30 cM, cytoband A
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    198 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920970
 protein coding gene Chr19:5394733-5399602 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024699
 protein coding gene Chr19:2300958-2305827 (-)
A/J MGP_AJ_G0024665
 protein coding gene Chr19:2174159-2179028 (-)
AKR/J MGP_AKRJ_G0024638
 protein coding gene Chr19:2238377-2243246 (-)
BALB/cJ MGP_BALBcJ_G0024665
 protein coding gene Chr19:2173826-2178695 (-)
C3H/HeJ MGP_C3HHeJ_G0024433
 protein coding gene Chr19:2243835-2248704 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025112
 protein coding gene Chr19:2355499-2360368 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022542
 protein coding gene Chr19:2084527-2089411 (-)
CAST/EiJ MGP_CASTEiJ_G0023905
 protein coding gene Chr19:2274257-2279111 (-)
CBA/J MGP_CBAJ_G0024405
 protein coding gene Chr19:2463904-2468778 (-)
DBA/2J MGP_DBA2J_G0024532
 protein coding gene Chr19:2156343-2161217 (-)
FVB/NJ MGP_FVBNJ_G0024499
 protein coding gene Chr19:2163161-2168040 (-)
LP/J MGP_LPJ_G0024618
 protein coding gene Chr19:2282760-2287629 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024529
 protein coding gene Chr19:2317460-2322334 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025160
 protein coding gene Chr19:2239536-2244405 (-)
PWK/PhJ MGP_PWKPhJ_G0023651
 protein coding gene Chr19:2194634-2199521 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023456
 protein coding gene Chr19:2229422-2234331 (-)
WSB/EiJ MGP_WSBEiJ_G0023967
 protein coding gene Chr19:2256580-2261464 (-)



Homology
more
  • Human Ortholog
    CST6, cystatin E/M
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CST6, cystatin E/M
  • Synonyms
    ECTD15
  • Links
    NCBI Gene ID: 1474
    neXtProt AC: NX_Q15828
    UniProt: Q15828

  • Chr Location
    11q13.1; chr11:66012008-66013505 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cst6 mouse models; 1 with human CST6 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    33 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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 homozygous for a spontaneous mutation show a hyperplastic, hyperkeratotic epidermis, abnormally large mitochondria, absent lamellar granules, excessive epidermal and hair follicle cornification, increased transepidermal water loss and postnatal death, probably due to dehydration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    2
  • GO References
    2
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
    751
  • Tissues
    37
  • cDNA Data
    25
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 73720 NCBI Gene Model | MGI Sequence Detail 4870 C57BL/6J ±  kb
    transcript NM_028623 RefSeq | MGI Sequence Detail 3951 ZRU/MplStud  
    polypeptide NP_082899 RefSeq | MGI Sequence Detail 149 ZRU/MplStud  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • InterPro Domains
      IPR000010 Cystatin domain
      IPR046350 Cystatin superfamily
    Molecular
    Reagents
    less
    • All nucleic 26
      cDNA 25
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1194512, MGI:2147809
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 2
      Phenotypes 14
    • Earliest
      J:41426 Sundberg JP, et al., Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. Am J Pathol. 1997 Jul;151(1):293-310
    • 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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory