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Ccdc47 Gene Detail
Summary
  • Symbol
    Ccdc47
  • Name
    coiled-coil domain containing 47
  • Synonyms
    2610204L23Rik, asp4, calumin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914413
    NCBI Gene: 67163
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:106090086-106107349 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 68.89 cM, cytoband E1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    460 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914413
 protein coding gene Chr11:106088234-106107349 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019297
 protein coding gene Chr11:109479048-109499718 (-)
A/J MGP_AJ_G0019265
 protein coding gene Chr11:104824267-104843658 (-)
AKR/J MGP_AKRJ_G0019234
 protein coding gene Chr11:107948824-107970870 (-)
BALB/cJ MGP_BALBcJ_G0019239
 protein coding gene Chr11:105224456-105244384 (-)
C3H/HeJ MGP_C3HHeJ_G0019048
 protein coding gene Chr11:108236953-108260251 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019689
 protein coding gene Chr11:112833375-112855337 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017313
 protein coding gene Chr11:102101838-102121822 (-)
CAST/EiJ MGP_CASTEiJ_G0018601
 protein coding gene Chr11:109295067-109314903 (-)
CBA/J MGP_CBAJ_G0019017
 protein coding gene Chr11:117527697-117550595 (-)
DBA/2J MGP_DBA2J_G0019129
 protein coding gene Chr11:104291866-104311449 (-)
FVB/NJ MGP_FVBNJ_G0019120
 protein coding gene Chr11:103793201-103812868 (-)
LP/J MGP_LPJ_G0019199
 protein coding gene Chr11:109925250-109944287 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019150
 protein coding gene Chr11:116815777-116837109 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019726
 protein coding gene Chr11:108441792-108462050 (-)
PWK/PhJ MGP_PWKPhJ_G0018366
 protein coding gene Chr11:105387432-105407361 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018157
 protein coding gene Chr11:108205181-108224192 (-)
WSB/EiJ MGP_WSBEiJ_G0018652
 protein coding gene Chr11:108403248-108424657 (-)



Homology
more
  • Human Ortholog
    CCDC47, coiled-coil domain containing 47
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCDC47, coiled-coil domain containing 47
  • Synonyms
    GK001, MSTP041, THNS
  • Links
    NCBI Gene ID: 57003
    neXtProt AC: NX_Q96A33
    UniProt: Q96A33

  • Chr Location
    17q23.3; chr17:63745255-63776351 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 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
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.
More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    8
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
    760
  • Tissues
    17
  • cDNA Data
    177
  • Literature Summary
    3
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 67163 NCBI Gene Model | MGI Sequence Detail 17264 C57BL/6J ±  kb
transcript NM_026009 RefSeq | MGI Sequence Detail 3270 C57BL/6  
polypeptide Q9D024 UniProt | EBI | MGI Sequence Detail 483 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 179
    cDNA 178
    Primer pair 1

    Microarray probesets 5
References
more
  • Summaries
    All 38
    Developmental Gene Expression 3
    Gene Ontology 8
    Phenotypes 10
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
  • Latest
    J:215393 Yamamoto S, et al., Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity. Dev Biol. 2014 Sep 1;393(1):33-43
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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory