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    Tmem107 transmembrane protein 107 [ Mus musculus (house mouse) ]

    Gene ID: 66910, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tmem107provided by MGI
    Official Full Name
    transmembrane protein 107provided by MGI
    Primary source
    MGI:MGI:1914160
    See related
    Ensembl:ENSMUSG00000020895 AllianceGenome:MGI:1914160
    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
    1110004B13Rik; 2810049P21Rik
    Summary
    Involved in several processes, including embryonic digit morphogenesis; non-motile cilium assembly; and protein localization to ciliary transition zone. Acts upstream of or within several processes, including craniofacial suture morphogenesis; detection of nodal flow; and roof of mouth development. Located in ciliary transition zone. Is expressed in brain ventricle and choroid plexus; nasal cavity epithelium; node; and pharynx. Human ortholog(s) of this gene implicated in Meckel syndrome 13 and orofaciodigital syndrome XVI. Orthologous to human TMEM107 (transmembrane protein 107). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 30.6), ovary adult (RPKM 12.8) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem107 in Genome Data Viewer
    Location:
    11 B3; 11 42.35 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (68961635..68964119)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (69070809..69073293)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5238 Neighboring gene nuclear encoded tRNA serine 3 (anticodon GCT) Neighboring gene nuclear encoded tRNA trytophan 6 (anticodon CCA) Neighboring gene STARR-positive B cell enhancer ABC_E590 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:68887007-68887116 Neighboring gene small nucleolar RNA, C/D box 118 Neighboring gene vesicle-associated membrane protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E7003

    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. TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. Shylo NA, et al. Hum Mutat, 2016 Feb. PMID 26518474
    2. Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development. Cela P, et al. J Dent Res, 2018 Jan. PMID 28954202, Free PMC Article
    3. Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice. Shylo NA, et al. Dev Biol, 2020 Apr 15. PMID 31887266, Free PMC Article
    4. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Christopher KJ, et al. Dev Biol, 2012 Aug 15. PMID 22698544, Free PMC Article
    5. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Lambacher NJ, et al. Nat Cell Biol, 2016 Jan. PMID 26595381, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice.
      Title: Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice.
    2. multiple roles in craniofacial development
      Title: Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.
    3. TMEM107 Is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome mice.
      Title: TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
    4. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
      Title: TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
    5. Data show that Transmembrane protein 107 (Tmem107) is required for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with Gli2 and Gli3 to pattern ventral and intermediate neuronal cell types.
      Title: Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.
    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

    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
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within craniofacial suture morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within detection of nodal flow IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural tube patterning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MKS complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary transition zone 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 107

    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_025838.2 → NP_080114.1  transmembrane protein 107 isoform 1

      See identical proteins and their annotated locations for NP_080114.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an internal segment in the 3' region, as compared to variant 2. The resulting isoform (1) is shorter and has a different C-terminus, as compared to isoform 2.
      Source sequence(s)
      AA217716, AK003403, CO044635
      Consensus CDS
      CCDS24879.1
      UniProtKB/Swiss-Prot
      B2RPS9, Q5SUQ6, Q9CPV0, Q9CZ71
      Related
      ENSMUSP00000075363.6, ENSMUST00000075980.12
      Conserved Domains (1) summary
      pfam14995
      Location:7 → 129
      TMEM107; Transmembrane protein

    2. NM_028336.3 → NP_082612.2  transmembrane protein 107 isoform 2

      See identical proteins and their annotated locations for NP_082612.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AA217716, AI835650, AK003403, AK012938
      Consensus CDS
      CCDS24880.1
      UniProtKB/Swiss-Prot
      Q9CPV0
      Related
      ENSMUSP00000091624.5, ENSMUST00000094081.5
      Conserved Domains (1) summary
      pfam14995
      Location:7 → 117
      TMEM107; Transmembrane 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_000077.7 Reference GRCm39 C57BL/6J

      Range
      68961635..68964119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CPV0.1 GenPept UniProtKB/Swiss-Prot:Q9CPV0

    Gene LinkOut

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

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