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    TSPAN12 tetraspanin 12 [ Homo sapiens (human) ]

    Gene ID: 23554, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TSPAN12provided by HGNC
    Official Full Name
    tetraspanin 12provided by HGNC
    Primary source
    HGNC:HGNC:21641
    See related
    Ensembl:ENSG00000106025 MIM:613138; AllianceGenome:HGNC:21641
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVR5; NET2; NET-2; TM4SF12
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 32.8), adrenal (RPKM 28.5) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSPAN12 in Genome Data Viewer
    Location:
    7q31.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (120787320..120858335, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (122102649..122173766, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (120427374..120498198, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375477 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:119896333-119897012 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:119897013-119897691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26551 Neighboring gene potassium voltage-gated channel subfamily D member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26554 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:120142038-120142659 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:120161695-120162506 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:120162507-120163318 Neighboring gene RNA, U6 small nuclear 581, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr7:120422555-120423072 Neighboring gene Sharpr-MPRA regulatory region 15278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18572 Neighboring gene uncharacterized LOC124901733 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:120497141-120497360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18573 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:120508165-120508289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26555 Neighboring gene uncharacterized LOC124901734 Neighboring gene RNA, 5S ribosomal pseudogene 240 Neighboring gene inhibitor of growth family member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy. Ju Y, et al. Hum Genomics, 2024 Mar 1. PMID 38424652, Free PMC Article
    2. Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. Yang H, et al. Mol Vis, 2011 Apr 29. PMID 21552475, Free PMC Article
    3. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Poulter JA, et al. Invest Ophthalmol Vis Sci, 2012 May 14. PMID 22427576
    4. Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant. Savarese M, et al. Ophthalmic Genet, 2014 Sep. PMID 23834558
    5. Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation. Knoblich K, et al. Cell Mol Life Sci, 2014 Apr. PMID 23955570, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. METTL3-mediated m[6]A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I.
      Title: METTL3-mediated m(6)A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I.
    2. Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
      Title: Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
    3. Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
      Title: Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
    4. Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.
      Title: Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.
    5. Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.
      Title: Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.
    6. A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
      Title: A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
    7. TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas.
      Title: TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas.
    8. A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
      Title: A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
    9. A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
      Title: A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
    10. Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.
      Title: Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.
    Submit: New GeneRIF Correction See all GeneRIFs (49)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Exudative vitreoretinopathy 5
    MedGen: C2750079 OMIM: 613310 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    NOT enables Wnt receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Norrin signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in maintenance of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in retina layer formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-12
    Names
    tetraspan NET-2
    transmembrane 4 superfamily member 12
    tspan-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.

    Genomic

    1. NG_023203.1 RefSeqGene

      Range
      4980..75804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012338.4 → NP_036470.1  tetraspanin-12

      See identical proteins and their annotated locations for NP_036470.1

      Status: REVIEWED

      Source sequence(s)
      AC004456, AY358703, BF338835, BI964728
      Consensus CDS
      CCDS5777.1
      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0
      Related
      ENSP00000222747.3, ENST00000222747.8
      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_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      120787320..120858335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420096.1 → XP_047276052.1  tetraspanin-12 isoform X2

    2. XM_005250239.4 → XP_005250296.1  tetraspanin-12 isoform X1

      See identical proteins and their annotated locations for XP_005250296.1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0
      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

    3. XM_047420095.1 → XP_047276051.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0
      Related
      ENSP00000397699.1, ENST00000415871.5

    4. XM_047420097.1 → XP_047276053.1  tetraspanin-12 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      122102649..122173766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357720.1 → XP_054213695.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    2. XM_054357724.1 → XP_054213699.1  tetraspanin-12 isoform X2

    3. XM_054357716.1 → XP_054213691.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    4. XM_054357723.1 → XP_054213698.1  tetraspanin-12 isoform X2

    5. XM_054357719.1 → XP_054213694.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    6. XM_054357718.1 → XP_054213693.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    7. XM_054357717.1 → XP_054213692.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    8. XM_054357722.1 → XP_054213697.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    9. XM_054357721.1 → XP_054213696.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

    10. XM_054357725.1 → XP_054213700.1  tetraspanin-12 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95859.1 GenPept UniProtKB/Swiss-Prot:O95859

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