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Ccdc30 Gene Detail
Summary
  • Symbol
    Ccdc30
  • Name
    coiled-coil domain containing 30
  • Synonyms
    1700001O02Rik, 1700041C02Rik, 1700111D19Rik, 4930445I03Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920582
    NCBI Gene: 73332
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:119179665-119272718 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 55.35 cM, cytoband D1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    670 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920582
 protein coding gene Chr4:119179663-119272718 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028697
 protein coding gene Chr4:120512925-120612989 (-)
A/J MGP_AJ_G0028657
 protein coding gene Chr4:115778422-115873148 (-)
AKR/J MGP_AKRJ_G0028610
 protein coding gene Chr4:118287127-118392153 (-)
BALB/cJ MGP_BALBcJ_G0028680
 protein coding gene Chr4:116402397-116497866 (-)
C3H/HeJ MGP_C3HHeJ_G0028395
 protein coding gene Chr4:119856290-119954003 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029121
 protein coding gene Chr4:125087394-125187760 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026398
 protein coding gene Chr4:109880587-109968176 (-)
CAST/EiJ MGP_CASTEiJ_G0027826
 protein coding gene Chr4:117182703-117276028 (-)
CBA/J MGP_CBAJ_G0028362
 protein coding gene Chr4:128473274-128577488 (-)
DBA/2J MGP_DBA2J_G0028509
 protein coding gene Chr4:116369736-116463436 (-)
FVB/NJ MGP_FVBNJ_G0028475
 protein coding gene Chr4:114888983-114983330 (-)
LP/J MGP_LPJ_G0028609
 protein coding gene Chr4:120630175-120728922 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028503
 protein coding gene Chr4:133334667-133445730 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029158
 protein coding gene Chr4:119364880-119463317 (-)
PWK/PhJ MGP_PWKPhJ_G0027549
 protein coding gene Chr4:113292760-113384968 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027375
 protein coding gene Chr4:115785148-115879104 (-)
WSB/EiJ MGP_WSBEiJ_G0027906
 protein coding gene Chr4:119370089-119466184 (-)



Homology
more
  • Human Ortholog
    CCDC30, coiled-coil domain containing 30
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCDC30, coiled-coil domain containing 30
  • Synonyms
    PFD6L, PFDN6L
  • Links
    NCBI Gene ID: 728621
    neXtProt AC: NX_Q5VVM6
    UniProt: Q5VVM6

  • Chr Location
    1p34.2; chr1:42456107-42657190 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    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.
Gene Ontology
(GO)
Classifications
less
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
Cellular Component

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
    718
  • Tissues
    2
  • cDNA Data
    18
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 73332 NCBI Gene Model | MGI Sequence Detail 93054 C57BL/6J ±  kb
transcript NM_029286 RefSeq | MGI Sequence Detail 3482 C57BL/6  
polypeptide Q8BVF4 UniProt | EBI | MGI Sequence Detail 654 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 19
    cDNA 18
    Primer pair 1

    Microarray probesets 9
Other
Accession IDs
less
MGI:1921234, MGI:1921544, MGI:1922685
References
more
  • Summaries
    All 35
    Developmental Gene Expression 1
    Phenotypes 14
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
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
04/16/2024
MGI 6.23 		The Jackson Laboratory