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    Tspan12 tetraspanin 12 [ Mus musculus (house mouse) ]

    Gene ID: 269831, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tspan12provided by MGI
    Official Full Name
    tetraspanin 12provided by MGI
    Primary source
    MGI:MGI:1889818
    See related
    Ensembl:ENSMUSG00000029669 AllianceGenome:MGI:1889818
    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
    Tm4sf12; 9030619E17
    Summary
    Involved in cell surface receptor signaling pathway; regulation of angiogenesis; and retina layer formation. Acts upstream of or within Norrin signaling pathway and maintenance of blood-brain barrier. Located in plasma membrane. Is expressed in cerebral cortex ventricular layer and genitourinary system. Used to study exudative vitreoretinopathy. Human ortholog(s) of this gene implicated in exudative vitreoretinopathy 5. Orthologous to human TSPAN12 (tetraspanin 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver adult (RPKM 12.9), genital fat pad adult (RPKM 11.6) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tspan12 in Genome Data Viewer
    Location:
    6 A3.1; 6 8.73 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (21771390..21879557, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (21771391..21879596, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26373 Neighboring gene potassium voltage-gated channel, Shal-related family, member 2 Neighboring gene STARR-seq mESC enhancer starr_15300 Neighboring gene STARR-seq mESC enhancer starr_15301 Neighboring gene STARR-seq mESC enhancer starr_15302 Neighboring gene STARR-seq mESC enhancer starr_15303 Neighboring gene predicted gene, 30270 Neighboring gene STARR-positive B cell enhancer ABC_E676 Neighboring gene STARR-positive B cell enhancer ABC_E6418 Neighboring gene STARR-seq mESC enhancer starr_15304 Neighboring gene STARR-seq mESC enhancer starr_15305 Neighboring gene inhibitor of growth family, member 3 Neighboring gene STARR-seq mESC enhancer starr_15306 Neighboring gene cadherin-like and PC-esterase domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_15307 Neighboring gene 60S ribosomal protein L32 pseudogene

    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. Endothelial Cell-Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature. Zhang C, et al. Arterioscler Thromb Vasc Biol, 2018 Nov. PMID 30354230, Free PMC Article
    2. A Frizzled4-LRP5 agonist promotes blood-retina barrier function by inducing a Norrin-like transcriptional response. Zhang L, et al. iScience, 2023 Aug 18. PMID 37559903, Free PMC Article
    3. TSPAN12 promotes chemoresistance and proliferation of SCLC under the regulation of miR-495. Ye M, et al. Biochem Biophys Res Commun, 2017 Apr 29. PMID 28302484
    4. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Poulter JA, et al. Am J Hum Genet, 2010 Feb 12. PMID 20159112, Free PMC Article
    5. Dlg1 activates beta-catenin signaling to regulate retinal angiogenesis and the blood-retina and blood-brain barriers. Cho C, et al. Elife, 2019 May 8. PMID 31066677, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TSPAN12 functions in endothelial cells to promote vascular morphogenesis and blood-retinal barrier formation in developing mice and BRB maintenance in adult mice.
      Title: Endothelial Cell-Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature.
    2. TSPAN12 promotes chemoresistance and proliferation of small cell lung carcinoma under the regulation of miR-495.
      Title: TSPAN12 promotes chemoresistance and proliferation of SCLC under the regulation of miR-495.
    3. Data indicate that Norrin multimers and TSPAN12 cooperatively promote multimerization of FZD4 and its associated proteins to elicit physiological levels of signaling.
      Title: TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables Wnt receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Norrin signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within maintenance of blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retina layer formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetraspanin-12
    Names
    transmembrane 4 superfamily member 12

    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_001363814.1 → NP_001350743.1  tetraspanin-12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK050737, BC065152
      Consensus CDS
      CCDS90030.1
      Related
      ENSMUSP00000113384.2, ENSMUST00000120965.8
      Conserved Domains (1) summary
      pfam00335
      Location:10 → 199
      Tetraspannin; Tetraspanin family

    2. NM_001411747.1 → NP_001398676.1  tetraspanin-12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122421, AC163104
      UniProtKB/Swiss-Prot
      Q6P1C3, Q8BKT6, Q8BZU1

    3. NM_001411748.1 → NP_001398677.1  tetraspanin-12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122421, AC163104
      UniProtKB/Swiss-Prot
      Q6P1C3, Q8BKT6, Q8BZU1

    4. NM_001411749.1 → NP_001398678.1  tetraspanin-12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122421, AC163104
      UniProtKB/Swiss-Prot
      Q6P1C3, Q8BKT6, Q8BZU1

    5. NM_001411750.1 → NP_001398679.1  tetraspanin-12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122421, AC163104
      UniProtKB/Swiss-Prot
      Q6P1C3, Q8BKT6, Q8BZU1

    6. NM_001411751.1 → NP_001398680.1  tetraspanin-12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122421, AC163104

    7. NM_173007.4 → NP_766595.1  tetraspanin-12 isoform 1

      See identical proteins and their annotated locations for NP_766595.1

      Status: VALIDATED

      Source sequence(s)
      AC122421, AC163104
      Consensus CDS
      CCDS19935.1
      UniProtKB/Swiss-Prot
      Q6P1C3, Q8BKT6, Q8BZU1
      Related
      ENSMUSP00000031678.4, ENSMUST00000031678.10
      Conserved Domains (2) summary
      cd03157
      Location:116 → 218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:10 → 244
      Tetraspannin; Tetraspanin family

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      21771390..21879557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505091.4 → XP_006505154.1  tetraspanin-12 isoform X1

      See identical proteins and their annotated locations for XP_006505154.1

      UniProtKB/Swiss-Prot
      Q6P1C3, Q8BKT6, Q8BZU1
      Conserved Domains (2) summary
      cd03157
      Location:116 → 218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:10 → 244
      Tetraspannin; Tetraspanin family

    2. XM_036166195.1 → XP_036022088.1  tetraspanin-12 isoform X3

      Conserved Domains (2) summary
      cl02781
      Location:106 → 160
      tetraspanin_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL). Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans the ...
      pfam00335
      Location:10 → 186
      Tetraspannin; Tetraspanin family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BKT6.1 GenPept UniProtKB/Swiss-Prot:Q8BKT6

    Gene LinkOut

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

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