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Cwc27 Gene Detail
Summary
  • Symbol
    Cwc27
  • Name
    CWC27 spliceosome-associated protein
  • Synonyms
    3110009E13Rik, NY-CO-10, Sdccag10
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914535
    NCBI Gene: 67285
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:104631322-104816969 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 56.64 cM, cytoband D1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    795 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914535
protein coding gene Chr13:104631140-104817142 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020909
protein coding gene Chr13:106741328-106930688 (-)
A/J MGP_AJ_G0020860
protein coding gene Chr13:102589814-102774268 (-)
AKR/J MGP_AKRJ_G0020835
protein coding gene Chr13:105708773-105895362 (-)
BALB/cJ MGP_BALBcJ_G0020860
protein coding gene Chr13:103304852-103479410 (-)
C3H/HeJ MGP_C3HHeJ_G0020649
protein coding gene Chr13:105454375-105643191 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021294
protein coding gene Chr13:109960969-110150970 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018864
protein coding gene Chr13:98185421-98357947 (-)
CAST/EiJ MGP_CASTEiJ_G0020168
protein coding gene Chr13:104948831-105140253 (-)
CBA/J MGP_CBAJ_G0020611
protein coding gene Chr13:114213998-114415565 (-)
DBA/2J MGP_DBA2J_G0020735
protein coding gene Chr13:102354855-102531777 (-)
FVB/NJ MGP_FVBNJ_G0020717
protein coding gene Chr13:101049974-101229236 (-)
LP/J MGP_LPJ_G0020809
protein coding gene Chr13:106773267-106961726 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020745
protein coding gene Chr13:114479859-114675485 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021333
protein coding gene Chr13:105185641-105368395 (-)
PWK/PhJ MGP_PWKPhJ_G0019921
protein coding gene Chr13:101096521-101267214 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019743
protein coding gene Chr13:101395323-101578984 (-)
WSB/EiJ MGP_WSBEiJ_G0020226
protein coding gene Chr13:105658066-105844893 (-)



Homology
more
  • Human Ortholog
    CWC27, CWC27 spliceosome associated protein homolog
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CWC27, CWC27 spliceosome associated protein homolog
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NY-CO-10, RPSKA, SDCCAG10, SDCCAG-10
  • Links
    NCBI Gene ID: 10283
    neXtProt AC: NX_Q6UX04
    UniProt: Q6UX04

  • Chr Location
    5q12.3; chr5:64768918-65018763 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 21192
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CWC27
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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.
Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities.
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67285 NCBI Gene Model | MGI Sequence Detail 185648 C57BL/6J ±  kb
    transcript NM_001360094 RefSeq | MGI Sequence Detail 2080 C57BL/6  
    polypeptide Q3TKY6 UniProt | EBI | MGI Sequence Detail 469 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000014557 peptidyl-prolyl cis-trans isomerase CWC27
    • EC
    • InterPro Domains
      IPR029000 Cyclophilin-like domain superfamily
      IPR024936 Cyclophilin-type peptidyl-prolyl cis-trans isomerase
      IPR020892 Cyclophilin-type peptidyl-prolyl cis-trans isomerase, conserved site
      IPR002130 Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 27

      Microarray probesets 2
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 15
    • 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:240676 Xu M, et al., Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 06;100(4):592-604

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    03/13/2019
    MGI 6.13
    The Jackson Laboratory