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    Tmem216 transmembrane protein 216 [ Mus musculus (house mouse) ]

    Gene ID: 68642, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tmem216provided by MGI
    Official Full Name
    transmembrane protein 216provided by MGI
    Primary source
    MGI:MGI:1920020
    See related
    Ensembl:ENSMUSG00000024667 AllianceGenome:MGI:1920020
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110017C22Rik; 2810441K11Rik; 4921533J23Rik; A930021F15Rik
    Summary
    This gene encodes a transmembrane protein which is involved in regulation of signaling and trafficking of associated proteins. In humans, mutations in this gene are associated with ciliopathies including Joubert, Meckel and related syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 13.3), whole brain E14.5 (RPKM 12.9) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Tmem216 in Genome Data Viewer
    Location:
    19 A; 19 6.6 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (10516690..10533663, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (10539326..10556297, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene stabilizer of axonemal microtubules 4 Neighboring gene succinate dehydrogenase complex assembly factor 2 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene STARR-positive B cell enhancer ABC_E9455 Neighboring gene transmembrane protein 138 Neighboring gene cytochrome b561 family, member A3 Neighboring gene triokinase, FMN cyclase Neighboring gene STARR-positive B cell enhancer ABC_E5687 Neighboring gene damage specific DNA binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in cilium assembly PubMed 
    involved_in cilium assembly  
    involved_in cilium assembly  
    involved_in non-motile cilium assembly  
    Component Evidence Code Pubs
    part_of MKS complex PubMed 
    is_active_in ciliary transition zone  
    located_in ciliary transition zone PubMed 
    located_in cilium  
    located_in cilium  
    located_in cytoplasm  
    located_in cytoskeleton  
    located_in membrane  

    General protein information

    Preferred Names
    transmembrane protein 216
    Names
    thymus atrophy-related protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001277860.1NP_001264789.1  transmembrane protein 216 isoform 1

      See identical proteins and their annotated locations for NP_001264789.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC125093, AK013286, BX633507, DV063021
      Consensus CDS
      CCDS70934.1
      UniProtKB/Swiss-Prot
      D3YUA1, Q9CQC4
      Related
      ENSMUSP00000115319.2, ENSMUST00000154383.2
      Conserved Domains (1) summary
      pfam09799
      Location:18121
      Transmemb_17; Predicted membrane protein
    2. NM_001277861.1NP_001264790.1  transmembrane protein 216 isoform 2

      See identical proteins and their annotated locations for NP_001264790.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      BC052053, BX633507, BY127975, DV063021
      Consensus CDS
      CCDS37913.1
      UniProtKB/Swiss-Prot
      Q9CQC4
      Related
      ENSMUSP00000059878.3, ENSMUST00000059582.9
      Conserved Domains (1) summary
      pfam09799
      Location:167
      Transmemb_17; Predicted membrane protein
    3. NM_026798.3NP_081074.1  transmembrane protein 216 isoform 2

      See identical proteins and their annotated locations for NP_081074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK003740, BX633507, BY704000
      Consensus CDS
      CCDS37913.1
      UniProtKB/Swiss-Prot
      Q9CQC4
      Related
      ENSMUSP00000025569.3, ENSMUST00000025569.9
      Conserved Domains (1) summary
      pfam09799
      Location:167
      Transmemb_17; Predicted membrane protein

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      10516690..10533663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527318.4XP_006527381.1  transmembrane protein 216 isoform X1

      See identical proteins and their annotated locations for XP_006527381.1

      UniProtKB/Swiss-Prot
      D3YUA1, Q9CQC4
      Conserved Domains (1) summary
      pfam09799
      Location:18121
      Transmemb_17; Predicted membrane protein
    2. XM_006527319.5XP_006527382.1  transmembrane protein 216 isoform X2

      See identical proteins and their annotated locations for XP_006527382.1

      UniProtKB/Swiss-Prot
      Q9CQC4
      Conserved Domains (1) summary
      pfam09799
      Location:167
      Transmemb_17; Predicted membrane protein

    RNA

    1. XR_386505.5 RNA Sequence

    2. XR_386504.4 RNA Sequence

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