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

    Gene ID: 68642, updated on 27-Apr-2024

    Summary

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    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
    human all
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    Genomic context

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    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

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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. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Garcia-Gonzalo FR, et al. Nat Genet, 2011 Jul 3. PMID 21725307, Free PMC Article
    2. The human (PEDB) and mouse (mPEDB) Prostate Expression Databases. Nelson PS, et al. Nucleic Acids Res, 2002 Jan 1. PMID 11752298, Free PMC Article
    3. 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
    4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis.
      Title: TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    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
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cilium 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
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 216
    Names
    thymus atrophy-related protein

    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_001277860.1 → NP_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:18 → 121
      Transmemb_17; Predicted membrane protein

    2. NM_001277861.1 → NP_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:1 → 67
      Transmemb_17; Predicted membrane protein

    3. NM_026798.3 → NP_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:1 → 67
      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_006527318.4 → XP_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:18 → 121
      Transmemb_17; Predicted membrane protein

    2. XM_006527319.5 → XP_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:1 → 67
      Transmemb_17; Predicted membrane protein

    RNA

    1. XR_386505.5 RNA Sequence

    2. XR_386504.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQC4.2 GenPept UniProtKB/Swiss-Prot:Q9CQC4

    Gene LinkOut

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

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