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

Gene ID: 77975, updated on 21-Apr-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, Apr 2022]
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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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 (25) 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 apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in 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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