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Ccdc28b coiled coil domain containing 28B [ Mus musculus (house mouse) ]

Gene ID: 66264, updated on 5-Mar-2024

Summary

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Official Symbol
Ccdc28bprovided by MGI
Official Full Name
coiled coil domain containing 28Bprovided by MGI
Primary source
MGI:MGI:1913514
See related
Ensembl:ENSMUSG00000028795 AllianceGenome:MGI:1913514
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110002E08Rik; 1810010N17Rik
Summary
Predicted to be involved in cilium assembly. Predicted to act upstream of or within cell projection organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in centrosome. Is expressed in central nervous system; foregut; ganglia; and olfactory epithelium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human CCDC28B (coiled-coil domain containing 28B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E18 (RPKM 38.8), cerebellum adult (RPKM 35.4) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Ccdc28b in Genome Data Viewer
Location:
4 D2.2; 4 63.26 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (129513067..129517820, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (129619274..129623908, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 234 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:129287304-129287568 Neighboring gene doublecortin domain containing 2b Neighboring gene STARR-positive B cell enhancer ABC_E10261 Neighboring gene IQ motif containing C Neighboring gene STARR-seq mESC enhancer starr_11504 Neighboring gene predicted gene, 34305 Neighboring gene taxilin alpha Neighboring gene STARR-positive B cell enhancer ABC_E1283 Neighboring gene karyopherin subunit alpha 6 Neighboring gene STARR-positive B cell enhancer ABC_E7992

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes. Fabregat M, et al. PLoS Genet, 2022 Jun. PMID 35653384, Free PMC Article
  2. The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. Cardenas-Rodriguez M, et al. Hum Mol Genet, 2013 Oct 15. PMID 23727834, Free PMC Article
  3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
  4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Findings implicate CCDC28B in the regulation of mTORC2, and uncover a novel function of SIN1 regulating cilia length that is likely independent of mTOR signaling.
    Title: The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 28B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_025455.2 → NP_079731.2  coiled-coil domain-containing protein 28B

    See identical proteins and their annotated locations for NP_079731.2

    Status: VALIDATED

    Source sequence(s)
    AK028262, BB848581, BQ031123
    Consensus CDS
    CCDS18700.1
    UniProtKB/Swiss-Prot
    A2ADZ9, Q8CEG5, Q8K132
    UniProtKB/TrEMBL
    Q9D1N8
    Related
    ENSMUSP00000030586.9, ENSMUST00000030586.15
    Conserved Domains (1) summary
    pfam13270
    Location:86 → 184
    DUF4061; Domain of unknown function (DUF4061)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    129513067..129517820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164307.1 → XP_036020200.1  coiled-coil domain-containing protein 28B isoform X2

    UniProtKB/Swiss-Prot
    A2ADZ9, Q8CEG5, Q8K132
    UniProtKB/TrEMBL
    Q9D1N8
    Conserved Domains (1) summary
    pfam13270
    Location:86 → 184
    DUF4061; Domain of unknown function (DUF4061)

  2. XM_030253696.2 → XP_030109556.1  coiled-coil domain-containing protein 28B isoform X1

    Conserved Domains (1) summary
    pfam13270
    Location:142 → 240
    DUF4061; Domain of unknown function (DUF4061)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CEG5.3 GenPept UniProtKB/Swiss-Prot:Q8CEG5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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