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

Gene ID: 68642, updated on 16-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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