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Cc2d1a Gene Detail
Summary
  • Symbol
    Cc2d1a
  • Name
    coiled-coil and C2 domain containing 1A
  • Synonyms
    Freud-1, MGC:27560, MGC:38983, Tape
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384831
    NCBI Gene: 212139
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:84859457-84874546 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 40.32 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    129 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384831
 protein coding gene Chr8:84859457-84874565 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033856
 protein coding gene Chr8:85003413-85020365 (-)
A/J MGP_AJ_G0033839
 protein coding gene Chr8:81674424-81690191 (-)
AKR/J MGP_AKRJ_G0033765
 protein coding gene Chr8:84088318-84103198 (-)
BALB/cJ MGP_BALBcJ_G0033832
 protein coding gene Chr8:81781615-81797689 (-)
C3H/HeJ MGP_C3HHeJ_G0033542
 protein coding gene Chr8:84699189-84715389 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034352
 protein coding gene Chr8:88273129-88289918 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031294
 protein coding gene Chr8:75473148-75489166 (-)
CAST/EiJ MGP_CASTEiJ_G0032872
 protein coding gene Chr8:84119343-84141214 (-)
CBA/J MGP_CBAJ_G0033518
 protein coding gene Chr8:91376887-91391949 (-)
DBA/2J MGP_DBA2J_G0033672
 protein coding gene Chr8:81313790-81329213 (-)
FVB/NJ MGP_FVBNJ_G0033619
 protein coding gene Chr8:80236493-80251465 (-)
LP/J MGP_LPJ_G0033763
 protein coding gene Chr8:85115689-85130811 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033661
 protein coding gene Chr8:93881762-93898227 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034369
 protein coding gene Chr8:84070270-84087010 (-)
PWK/PhJ MGP_PWKPhJ_G0032576
 protein coding gene Chr8:80539755-80554943 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032412
 protein coding gene Chr8:82876440-82892942 (-)
WSB/EiJ MGP_WSBEiJ_G0032985
 protein coding gene Chr8:84477606-84492592 (-)



Homology
more
  • Human Ortholog
    CC2D1A, coiled-coil and C2 domain containing 1A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CC2D1A, coiled-coil and C2 domain containing 1A
  • Synonyms
    Aki-1, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, TAPE
  • Links
    NCBI Gene ID: 54862
    neXtProt AC: NX_Q6P1N0
    UniProt: Q6P1N0

  • Chr Location
    19p13.12; chr19:13906201-13930879 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human CC2D1A 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
    23 phenotypes from 5 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    47 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 knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • 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
non-membrane-bounded 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
    717
  • Tissues
    11
  • cDNA Data
    48
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 212139 NCBI Gene Model | MGI Sequence Detail 15090 C57BL/6J ±  kb
    transcript NM_001381873 RefSeq | MGI Sequence Detail 3558 C57BL/6  
    polypeptide Q8K1A6 UniProt | EBI | MGI Sequence Detail 943 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 48

      Microarray probesets 3
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 47
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:319512 Dana H, et al., Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism. Neuromolecular Med. 2020 Jun;22(2):239-249
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory