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    Tmem50b transmembrane protein 50B [ Mus musculus (house mouse) ]

    Gene ID: 77975, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tmem50bprovided by MGI
    Official Full Name
    transmembrane protein 50Bprovided by MGI
    Primary source
    MGI:MGI:1925225
    See related
    Ensembl:ENSMUSG00000022964 AllianceGenome:MGI:1925225
    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
    B230114J08Rik
    Summary
    Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway. Predicted to be located in endoplasmic reticulum. Is expressed in several structures, including alimentary system; bone; brain; ganglia; and sensory organ. Orthologous to human TMEM50B (transmembrane protein 50B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 45.7), cerebellum adult (RPKM 39.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem50b in Genome Data Viewer
    Location:
    16 C3.3; 16 53.11 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (91371390..91394573, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (91574508..91597680, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:91541844-91542045 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:91545797-91546039 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:91546296-91546449 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_41480 Neighboring gene interferon gamma receptor 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:91588013-91588235 Neighboring gene STARR-positive B cell enhancer ABC_E3173 Neighboring gene STARR-positive B cell enhancer mm9_chr16:91619128-91619428 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28 Neighboring gene phosphoribosylglycinamide formyltransferase Neighboring gene STARR-positive B cell enhancer ABC_E3174

    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. Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain. Moldrich RX, et al. Neuroscience, 2008 Jul 17. PMID 18541381
    2. Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages. Dietrich JE, et al. EMBO Rep, 2015 Aug. PMID 26142281, Free PMC Article
    3. A gene expression map of human chromosome 21 orthologues in the mouse. Gitton Y, et al. Nature, 2002 Dec 5. PMID 12466855
    4. Human chromosome 21 gene expression atlas in the mouse. Reymond A, et al. Nature, 2002 Dec 5. PMID 12466854
    5. Characterization of the piRNA complex from rat testes. Lau NC, et al. Science, 2006 Jul 21. PMID 16778019

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tmem50b is a developmentally-regulated intracellular ER and Golgi apparatus membrane protein that may prove important for correct brain development through functions associated with precursor cells and glia.
      Title: Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain.
    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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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in late endosome to vacuole transport via multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 50B

    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_001419295.1 → NP_001406224.1  transmembrane protein 50B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC159199
      UniProtKB/Swiss-Prot
      Q3UZ98, Q8N7M9, Q9D1X9

    2. NM_001419296.1 → NP_001406225.1  transmembrane protein 50B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC159199
      UniProtKB/Swiss-Prot
      Q3UZ98, Q8N7M9, Q9D1X9

    3. NM_001419297.1 → NP_001406226.1  transmembrane protein 50B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC159199
      UniProtKB/Swiss-Prot
      Q3UZ98, Q8N7M9, Q9D1X9

    4. NM_001419298.1 → NP_001406227.1  transmembrane protein 50B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC159199
      UniProtKB/Swiss-Prot
      Q3UZ98, Q8N7M9, Q9D1X9

    5. NM_001419306.1 → NP_001406235.1  transmembrane protein 50B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC159199

    6. NM_001419309.1 → NP_001406238.1  transmembrane protein 50B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC159199

    7. NM_030018.4 → NP_084294.1  transmembrane protein 50B isoform 1

      See identical proteins and their annotated locations for NP_084294.1

      Status: VALIDATED

      Source sequence(s)
      AC159199
      Consensus CDS
      CCDS28328.1
      UniProtKB/Swiss-Prot
      Q3UZ98, Q8N7M9, Q9D1X9
      Related
      ENSMUSP00000023686.9, ENSMUST00000023686.15
      Conserved Domains (1) summary
      pfam05255
      Location:9 → 157
      UPF0220; Uncharacterized protein family (UPF0220)

    RNA

    1. NR_185057.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159199

    2. NR_185058.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159199

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      91371390..91394573 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D1X9.1 GenPept UniProtKB/Swiss-Prot:Q9D1X9

    Gene LinkOut

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

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