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    Tmem237 transmembrane protein 237 [ Mus musculus (house mouse) ]

    Gene ID: 381259, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tmem237provided by MGI
    Official Full Name
    transmembrane protein 237provided by MGI
    Primary source
    MGI:MGI:2138365
    See related
    Ensembl:ENSMUSG00000038079 AllianceGenome:MGI:2138365
    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
    Gm972; Als2cr4
    Summary
    Involved in cilium assembly and regulation of Wnt signaling pathway. Located in cone photoreceptor outer segment; photoreceptor connecting cilium; and rod photoreceptor outer segment. Is expressed in alimentary system; diaphragm; gallbladder; lower urinary tract; and reproductive system. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 14. Orthologous to human TMEM237 (transmembrane protein 237). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 13.3), CNS E18 (RPKM 7.8) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem237 in Genome Data Viewer
    Location:
    1 C1.3; 1 29.2 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (59139743..59159567, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (59100584..59120422, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene STARR-seq mESC enhancer starr_01029 Neighboring gene predicted gene 29018 Neighboring gene predicted gene, 25502 Neighboring gene STARR-seq mESC enhancer starr_01030 Neighboring gene membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:59219938-59220121 Neighboring gene predicted gene, 19125 Neighboring gene alsin Rho guanine nucleotide exchange factor Neighboring gene STARR-positive B cell enhancer ABC_E1993

    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 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. HIF-1α-activated TMEM237 promotes hepatocellular carcinoma progression via the NPHP1/Pyk2/ERK pathway. Chen T, et al. Cell Mol Life Sci, 2023 Apr 11. PMID 37041420, Free PMC Article
    2. Deciphering the structure and function of Als2cr4 in the mouse retina. Zuniga FI, et al. Invest Ophthalmol Vis Sci, 2010 Sep. PMID 20375344, Free PMC Article
    3. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Huang L, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152675, Free PMC Article
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (20) 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)
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    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
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    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 regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    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 ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cone photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in rod photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 237
    Names
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog

    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_001033449.2 → NP_001028621.1  transmembrane protein 237 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC133162
      Consensus CDS
      CCDS14983.1
      UniProtKB/Swiss-Prot
      Q3V0J1
      Related
      ENSMUSP00000092522.4, ENSMUST00000094917.10
      Conserved Domains (1) summary
      pfam15383
      Location:148 → 391
      TMEM237; Transmembrane protein 237

    2. NM_001037812.3 → NP_001032901.1  transmembrane protein 237 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK167733, BM899705
      Consensus CDS
      CCDS14984.1
      UniProtKB/Swiss-Prot
      Q3V0J1
      Related
      ENSMUSP00000084745.5, ENSMUST00000087475.11
      Conserved Domains (1) summary
      pfam15383
      Location:138 → 381
      TMEM237; Transmembrane protein 237

    3. NM_001361413.1 → NP_001348342.1  transmembrane protein 237 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK133112, BM899705, BY097381
      Consensus CDS
      CCDS87834.1
      UniProtKB/Swiss-Prot
      B2RVK7, Q3TIS2, Q3V0J1
      Related
      ENSMUSP00000139823.2, ENSMUST00000186794.7
      Conserved Domains (1) summary
      pfam15383
      Location:162 → 405
      TMEM237; Transmembrane protein 237

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      59139743..59159567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496096.5 → XP_006496159.1  transmembrane protein 237 isoform X1

      Conserved Domains (1) summary
      pfam15383
      Location:141 → 384
      TMEM237; Transmembrane protein 237

    2. XM_006496097.5 → XP_006496160.1  transmembrane protein 237 isoform X2

      Conserved Domains (1) summary
      pfam15383
      Location:133 → 376
      TMEM237; Transmembrane protein 237
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V0J1.1 GenPept UniProtKB/Swiss-Prot:Q3V0J1

    Gene LinkOut

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

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