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Ccdc88c Gene Detail
Summary
  • Symbol
    Ccdc88c
  • Name
    coiled-coil domain containing 88C
  • Synonyms
    0610010D24Rik, Daple
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915589
    NCBI Gene: 68339
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:100877782-100995315 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 51.11 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3530 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915589
 protein coding gene Chr12:100877778-100995610 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020022
 protein coding gene Chr12:102402914-102525438 (-)
A/J MGP_AJ_G0019977
 protein coding gene Chr12:98545780-98661965 (-)
AKR/J MGP_AKRJ_G0019953
 protein coding gene Chr12:101238739-101358450 (-)
BALB/cJ MGP_BALBcJ_G0019963
 protein coding gene Chr12:98898956-99018647 (-)
C3H/HeJ MGP_C3HHeJ_G0019765
 protein coding gene Chr12:101771145-101890813 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020412
 protein coding gene Chr12:105573193-105694578 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018026
 protein coding gene Chr12:95526356-95646872 (-)
CAST/EiJ MGP_CASTEiJ_G0019311
 protein coding gene Chr12:96881993-97013903 (-)
CBA/J MGP_CBAJ_G0019737
 protein coding gene Chr12:109478421-109608050 (-)
DBA/2J MGP_DBA2J_G0019848
 protein coding gene Chr12:97998211-98115736 (-)
FVB/NJ MGP_FVBNJ_G0019837
 protein coding gene Chr12:96718068-96833786 (-)
LP/J MGP_LPJ_G0019924
 protein coding gene Chr12:102257663-102374923 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019879
 protein coding gene Chr12:113058235-113181828 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020441
 protein coding gene Chr12:100809701-100934485 (-)
PWK/PhJ MGP_PWKPhJ_G0019075
 protein coding gene Chr12:92638753-92760379 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018871
 protein coding gene Chr12:94996729-95117293 (-)
WSB/EiJ MGP_WSBEiJ_G0019365
 protein coding gene Chr12:101677394-101799504 (-)



Homology
more
  • Human Ortholog
    CCDC88C, coiled-coil domain containing 88C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCDC88C, coiled-coil domain containing 88C
  • Synonyms
    DAPLE, HKRP2, HYC1, KIAA1509, SCA40
  • Links
    NCBI Gene ID: 440193
    neXtProt AC: NX_Q9P219
    UniProt: Q9P219

  • Chr Location
    14q32.11-q32.12
Human Diseases
more
  • Diseases
    2 with human CCDC88C associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 3 alleles in 3 genetic backgrounds
    20 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 null allele exhibit lack of coordinated cilia orientation and movement on the left ventricle wall. Homozygous knockout also leads to delayed wound healing and postnatal weight loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    41
  • GO References
    7
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
    902
  • Tissues
    59
  • cDNA Data
    77
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021182 Ensembl Gene Model | MGI Sequence Detail 117534 C57BL/6J ±  kb
    transcript ENSMUST00000085096 Ensembl | MGI Sequence Detail 6313 Not Applicable  
    polypeptide ENSMUSP00000082177 Ensembl | MGI Sequence Detail 2016 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 82
      Genomic 2
      cDNA 77
      Primer pair 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2144972, MGI:2145023
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 10
      Gene Ontology 7
      Phenotypes 20
    • 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:330604 Akturk A, et al., RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells. Sci Adv. 2022 Oct 21;8(42):eabq2826
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory