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    Tmem231 transmembrane protein 231 [ Mus musculus (house mouse) ]

    Gene ID: 234740, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmem231provided by MGI
    Official Full Name
    transmembrane protein 231provided by MGI
    Primary source
    MGI:MGI:2685024
    See related
    Ensembl:ENSMUSG00000031951 AllianceGenome:MGI:2685024
    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
    Gm178; 4932417I16Rik
    Summary
    Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic digit morphogenesis; in utero embryonic development; and neuroepithelial cell differentiation. Located in ciliary membrane and ciliary transition zone. Part of MKS complex. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 20 and Meckel syndrome. Orthologous to human TMEM231 (transmembrane protein 231). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 7.4), ovary adult (RPKM 5.8) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem231 in Genome Data Viewer
    Location:
    8 E1; 8 58.15 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (112638639..112660445, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (111912007..111933813, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 170 Neighboring gene STARR-positive B cell enhancer ABC_E5043 Neighboring gene STARR-seq mESC enhancer starr_22724 Neighboring gene STARR-seq mESC enhancer starr_22725 Neighboring gene carbohydrate sulfotransferase 5 Neighboring gene predicted gene, 36531 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:114464460-114464569 Neighboring gene STARR-seq mESC enhancer starr_22729 Neighboring gene GABA type A receptor associated protein like 2 Neighboring gene adenosine deaminase, tRNA-specific 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:114500469-114500652 Neighboring gene STARR-positive B cell enhancer ABC_E6687

    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. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. Roberson EC, et al. J Cell Biol, 2015 Apr 13. PMID 25869670, Free PMC Article
    2. Ciliary Hedgehog signaling regulates cell survival to build the facial midline. Abrams SR, et al. Elife, 2021 Oct 21. PMID 34672258, Free PMC Article
    3. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Chih B, et al. Nat Cell Biol, 2011 Dec 18. PMID 22179047
    4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    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 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuroepithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 231

    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_001033321.2 → NP_001028493.1  transmembrane protein 231 isoform 1

      See identical proteins and their annotated locations for NP_001028493.1

      Status: VALIDATED

      Source sequence(s)
      AU254458, BC100402, BY031259
      Consensus CDS
      CCDS52676.1
      UniProtKB/Swiss-Prot
      Q3U284, Q497S7
      Related
      ENSMUSP00000034429.8, ENSMUST00000034429.9
      Conserved Domains (1) summary
      pfam10149
      Location:1 → 301
      TM231; Transmembrane protein 231

    2. NM_001357348.1 → NP_001344277.1  transmembrane protein 231 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK030046, AU254458, BY031259
      Conserved Domains (1) summary
      pfam10149
      Location:19 → 217
      TM231; Transmembrane protein 231

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      112638639..112660445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248362.3 → XP_011246664.1  transmembrane protein 231 isoform X1

      See identical proteins and their annotated locations for XP_011246664.1

      Conserved Domains (1) summary
      pfam10149
      Location:19 → 217
      TM231; Transmembrane protein 231

    2. XM_011248363.4 → XP_011246665.1  transmembrane protein 231 isoform X2

      Conserved Domains (1) summary
      pfam10149
      Location:2 → 199
      TM231; Transmembrane protein 231
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U284.1 GenPept UniProtKB/Swiss-Prot:Q3U284

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