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Tspan12 tetraspanin 12 [ Mus musculus (house mouse) ]

Gene ID: 269831, updated on 9-May-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. Is integral component of plasma membrane. Is expressed in 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, Apr 2022]
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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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. 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
  3. 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
  4. 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
  5. Interplay of the Norrin and Wnt7a/Wnt7b signaling systems in blood-brain barrier and blood-retina barrier development and maintenance. Wang Y, et al. Proc Natl Acad Sci U S A, 2018 Dec 11. PMID 30478038, Free PMC Article

See all (23) 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 
acts_upstream_of_or_within 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
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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

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