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D6Wsu163e DNA segment, Chr 6, Wayne State University 163, expressed [ Mus musculus (house mouse) ]

Gene ID: 28040, updated on 5-Mar-2024

Summary

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Official Symbol
D6Wsu163eprovided by MGI
Official Full Name
DNA segment, Chr 6, Wayne State University 163, expressedprovided by MGI
Primary source
MGI:MGI:107893
See related
Ensembl:ENSMUSG00000030347 AllianceGenome:MGI:107893
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
C12orf4
Summary
Predicted to be involved in regulation of mast cell degranulation. Predicted to be active in cytoplasm. Is expressed in extraembryonic component. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human C12orf4 (chromosome 12 open reading frame 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 7.4), placenta adult (RPKM 6.8) and 25 other tissues See more
Orthologs
human all
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Genomic context

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Location:
6 F3; 6 61.92 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (126916938..126952667)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (126939966..126975704)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene dual-specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene RAD51 associated protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E688 Neighboring gene STARR-positive B cell enhancer ABC_E6491 Neighboring gene metaxin 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8131 Neighboring gene predicted gene 43124 Neighboring gene STARR-seq mESC enhancer starr_17402 Neighboring gene fibroblast growth factor 6

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. Interaction of Sox2 with RNA binding proteins in mouse embryonic stem cells. Samudyata, et al. Exp Cell Res, 2019 Aug 1. PMID 31077711, Free PMC Article
  2. Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Ko MS, et al. Hum Mol Genet, 1998 Nov. PMID 9811942
  3. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
  4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
  5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in regulation of mast cell degranulation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of mast cell degranulation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
protein C12orf4 homolog

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_001410642.1 → NP_001397571.1  protein C12orf4 homolog isoform a

    Status: VALIDATED

    Source sequence(s)
    AC165085
    UniProtKB/Swiss-Prot
    Q3UVK4, Q91YN0

  2. NM_001410643.1 → NP_001397572.1  protein C12orf4 homolog isoform b

    Status: VALIDATED

    Source sequence(s)
    AC165085

  3. NM_001410644.1 → NP_001397573.1  protein C12orf4 homolog isoform b

    Status: VALIDATED

    Source sequence(s)
    AC165085

  4. NM_138594.4 → NP_613060.1  protein C12orf4 homolog isoform a

    See identical proteins and their annotated locations for NP_613060.1

    Status: VALIDATED

    Source sequence(s)
    AC165085
    Consensus CDS
    CCDS20560.1
    UniProtKB/Swiss-Prot
    Q3UVK4, Q91YN0
    Related
    ENSMUSP00000032497.4, ENSMUST00000032497.7
    Conserved Domains (1) summary
    pfam10154
    Location:41 → 546
    DUF2362; Uncharacterized conserved protein (DUF2362)

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_000072.7 Reference GRCm39 C57BL/6J

    Range
    126916938..126952667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91YN0.1 GenPept UniProtKB/Swiss-Prot:Q91YN0

Gene LinkOut

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

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