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TSPAN12 Gene

protein-coding   GIFtS: 53
GCID: GC07M120427

Tetraspanin 12

(Previous name: transmembrane 4 superfamily member 12)
(Previous symbol: TM4SF12)
  See TSPAN12-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tetraspanin 121 2     EVR52 5
Transmembrane 4 Superfamily Member 121 2 3     NET-22
TM4SF121 2 3     tetraspanin-122
NET22 3 5     tspan-122
Tetraspan NET-22 3     Tspan-123

External Ids:    HGNC: 216411   Entrez Gene: 235542   Ensembl: ENSG000001060257   OMIM: 6131385   UniProtKB: O958593   

Export aliases for TSPAN12 gene to outside databases

Previous GC identifers: GC07M120022 GC07M120214 GC07M114790


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TSPAN12 Gene:
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)

GeneCards Summary for TSPAN12 Gene:
TSPAN12 (tetraspanin 12) is a protein-coding gene. Diseases associated with TSPAN12 include familial exudative vitreoretinopathy, autosomal dominant, and exudative vitreoretinopathy 5. GO annotations related to this gene include Wnt-activated receptor activity.

UniProtKB/Swiss-Prot: TSN12_HUMAN, O95859
Function: Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization
by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization
and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate
LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of
FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a
Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a
regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity
of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TSPAN12 gene promoter:
         HFH-3   Pax-6   FOXD3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   HNF-1A   GATA-1   FOXI1   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTSPAN12 promoter sequence
   Search Chromatin IP Primers for TSPAN12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TSPAN12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.31   Ensembl cytogenetic band:  7q31.31   HGNC cytogenetic band: 7q31.31

TSPAN12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSPAN12 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M120427:  view genomic region     (about GC identifiers)

Start:
120,427,374 bp from pter      End:
120,498,456 bp from pter
Size:
71,083 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 119,822,450-119,893,269     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TSN12_HUMAN, O95859 (See protein sequence)
Recommended Name: Tetraspanin-12  
Size: 305 amino acids; 35383 Da
Subunit: Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By similarity). Interacts
(when palmitoylated) with ADAM10. Interacts with MMP14/MT1-MMP
Secondary accessions: A4D0V8 B4DRG6 Q549U9 Q8N5Y0
Alternative splicing: 2 isoforms:  O95859-1   O95859-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSPAN12: NX_O95859

Explore proteomics data for TSPAN12 at MOPED

Post-translational modifications: 

  • Palmitoylated; required for interaction with ADAM10. The precise position of palmitoylated residues is unclear and
    occurs either on Cys-9, Cys-12 and/or Cys-831
  • Modification sites at neXtProt

  • See TSPAN12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036470.1  
    ENSEMBL proteins: 
     ENSP00000222747   ENSP00000397411   ENSP00000397699   ENSP00000411158   ENSP00000399059  
     ENSP00000404942   ENSP00000388819  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TSPAN: Tetraspanins

    4 InterPro protein domains:
     IPR018499 Tetraspanin/Peripherin
     IPR000301 Tetraspanin
     IPR008952 Tetraspanin_EC2
     IPR018503 Tetraspanin_CS

    Graphical View of Domain Structure for InterPro Entry O95859

    ProtoNet protein and cluster: O95859

    1 Blocks protein domain: IPB000301 Transmembrane four family signature

    UniProtKB/Swiss-Prot: TSN12_HUMAN, O95859
    Similarity: Belongs to the tetraspanin (TM4SF) family


    Find genes that share domains with TSPAN12           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TSN12_HUMAN, O95859
    Function: Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization
    by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization
    and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate
    LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of
    FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a
    Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a
    regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity
    of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042813NOT Wnt-activated receptor activity ISS--
         
    Find genes that share ontologies with TSPAN12           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tspan12):
     cardiovascular system  hearing/vestibular/ear  vision/eye 

    Find genes that share phenotypes with TSPAN12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tspan12tm1Lex for TSPAN12

       genOway: Develop your customized and physiologically relevant rodent model for TSPAN12

    miRNA
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    miRTarBase miRNAs that target TSPAN12:
    hsa-mir-196a-5p (MIRT026095), hsa-mir-26b-5p (MIRT029887), hsa-mir-101-3p (MIRT027371)

    Block miRNA regulation of human, mouse, rat TSPAN12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TSPAN12 (see all 28):
    hsa-miR-140-5p hsa-miR-607 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-539 hsa-miR-144 hsa-miR-499-5p hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidTSPAN12 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TSN12_HUMAN, O95859: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane ISS--
    GO:0016020membrane TAS10719184
    GO:0016021integral component of membrane TAS10719184

    Find genes that share ontologies with TSPAN12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TSPAN12
    Interactions:

        Search GeneGlobe Interaction Network for TSPAN12

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for TSPAN12 (O958593 ENSP000002227474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDPQ006043, ENSP000003673014I2D: score=1 STRING: ENSP00000367301
    FZD4Q9ULV13I2D: score=1 
    --ENSP000003115814STRING: ENSP00000311581
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0007166cell surface receptor signaling pathway ISS--
    GO:0010842retina layer formation ISS--
    GO:0045765regulation of angiogenesis ISS--

    Find genes that share ontologies with TSPAN12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TSPAN12 (TSN12)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TSPAN12 gene: 
    NM_012338.3  

    Unigene Cluster for TSPAN12:

    Tetraspanin 12
    Hs.16529  [show with all ESTs]
    Unigene Representative Sequence: NM_012338
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222747(uc010lkj.3 uc003vjk.3) ENST00000450414 ENST00000415871
    ENST00000441017 ENST00000433758 ENST00000424710 ENST00000430985
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TSPAN12 (see all 28):
    hsa-miR-140-5p hsa-miR-607 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-539 hsa-miR-144 hsa-miR-499-5p hsa-miR-4325
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    Additional mRNA sequence: 

    AF124522.1 AK299247.1 AK307161.1 AK312239.1 AY358703.1 BC031265.1 

    9 DOTS entries:

    DT.112725  DT.110079  DT.121107354  DT.121107378  DT.121107384  DT.121107361  DT.100028639  DT.121107371 
    DT.99956040 

    Selected AceView cDNA sequences (see all 98):

    AI262216 BQ012582 AA227446 AW303290 BU688134 CD678290 AA570707 AI283160 
    BM760080 BF446201 BF338835 AI056699 BG644291 AI810992 AA227513 BM723162 
    AI337043 AI686122 AY358703 BM712366 BF002783 AI050958 NM_012338 CD656678 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN12 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15
    SP1:                                      -     -     -     -           -                             -                 -                                       
    SP2:                                                        -           -                             -                 -                                       
    SP3:                    -                 -     -     -     -           -                                                                                       
    SP4:                                      -     -     -     -           -                                                                                       
    SP5:                                      -     -     -     -           -                                                                                       


    ECgene alternative splicing isoforms for TSPAN12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TSPAN12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACAATTTA
    TSPAN12 Expression
    About this image


    TSPAN12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Oligodendrocyte progenitor cells
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Spinal Cord (Nervous System)
             Oligodendrocyte progenitor cells
     
     Oligodendrocytes (Nervous System)
             Oligodendrocyte progenitor cells
    TSPAN12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TSPAN12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.16529
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSPAN12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TSPAN12 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tspan121 , 5 tetraspanin 121, 5 89.51(n)1
    98.03(a)1
      6 (8.73 cM)5
    2698311  NM_173007.31  NP_766595.11 
     217713955 
    chicken
    (Gallus gallus)
    Aves TSPAN121 tetraspanin 12 84.26(n)
    93.77(a)
      417763  NM_001007849.1  NP_001007850.1 
    lizard
    (Anolis carolinensis)
    Reptilia TSPAN126
    tetraspanin 12
    84(a)
    1 ↔ 1
    5(63344124-63439387)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tspan121 tetraspanin 12 77.3(n)
    81.25(a)
      100487941  XM_004912985.1  XP_004913042.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638802 similar to transmembrane 4 superfamily member 12 77.46(n)   394127  BC054563.1 


    ENSEMBL Gene Tree for TSPAN12 (if available)
    TreeFam Gene Tree for TSPAN12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TSPAN12 gene
    3 SIMAP similar genes for TSPAN12 using alignment to 6 protein entries:     TSN12_HUMAN (see all proteins):
    BTCC-1    CD9    TSPAN4

    Find genes that share paralogs with TSPAN12           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TSPAN12
    PGOHUM00000244153


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TSPAN12 (see all 1197)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0635764
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0635762 L H mis40--------
    VAR_0689014
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0689012 L P mis40--------
    VAR_0635784
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0635782 M R mis40--------
    VAR_0688994
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0688992 T M mis40--------
    VAR_0689004
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0689002 Y C mis40--------
    VAR_0635774
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0635772 G R mis40--------
    VAR_0635794
    Vitreoretinopathy, exudative 5 (EVR5)4--see VAR_0635792 A P mis40--------
    rs30679391,2
    C--114844869(+) TATTAAGTTTA/-
            
    TTTTT
    1 -- cds11Minor allele frequency- -:0.00NA 2
    rs788119121,2
    C--119831210(+) AAAAAA/TTGTAT 1 -- int10--------
    rs670613681,2
    C--119875645(+) CACAA-/GGTTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for TSPAN12 (120427374 - 120498456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TSPAN12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5929CNV Loss18451855
    nsv7405OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): TSPAN12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TSPAN12
    DNA2.0 Custom Variant and Variant Library Synthesis for TSPAN12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613138   
    OMIM disorders: 613310  
    UniProtKB/Swiss-Prot: TSN12_HUMAN, O95859
  • Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]: A disorder of the retinal vasculature characterized
    by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may
    lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial
    avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by
    scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same
    family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is
    an arc of avascular retina in the extreme temporal periphery. Note=The disease is caused by mutations affecting
    the gene represented in this entry. TSPAN12 dominant and recessive mutations have been identified in patients
    with exudative vitreoretinopathy. Patients with mutations in both alleles of TSPAN12 have severe exudative
    vitreoretinopathy or retinal dysplasia. These mutations appear to result in a milder phenotype in heterozygous
    mutation carriers (PubMed:22427576)

  • 5 diseases for TSPAN12:    
    About MalaCards
    familial exudative vitreoretinopathy, autosomal dominant    exudative vitreoretinopathy 5    tspan12-related familial exudative vitreoretinopathy, autosomal dominant    exudative vitreoretinopathy
    coats disease

    3 diseases from the University of Copenhagen DISEASES database for TSPAN12:
    Exudative vitreoretinopathy     Coats disease     Retinopathy of prematurity

    Find genes that share disorders with TSPAN12           About GenesLikeMe

    Genetic Association Database (GAD): TSPAN12
    Human Genome Epidemiology (HuGE) Navigator: TSPAN12 (2 documents)

    Export disorders for TSPAN12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TSPAN12 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with TSPAN12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). (PubMed id 22427576)1, 2 Poulter J.A.... Toomes C. (Invest. Ophthalmol. Vis. Sci. 2012)
    2. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. (PubMed id 20159112)1, 2 Poulter J.A.... Toomes C. (Am. J. Hum. Genet. 2010)
    3. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (PubMed id 20159111)1, 2 Nikopoulos K.... Collin R.W. (Am. J. Hum. Genet. 2010)
    4. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1, 4 Maestrini E....Monaco A.P. (Mol. Psychiatry 2010)
    5. Tetraspanin12 regulates ADAM10-dependent cleavage of amyloid precursor protein. (PubMed id 19587294)1, 2 Xu D.... Hemler M.E. (FASEB J. 2009)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Sequence and expression of seven new tetraspans. (PubMed id 10719184)1, 2 Serru V.... Rubinstein E. (Biochim. Biophys. Acta 2000)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23554 HGNC: 21641 AceView: TM4SF12 Ensembl:ENSG00000106025 euGenes: HUgn23554
    ECgene: TSPAN12 H-InvDB: TSPAN12

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TSPAN12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TSPAN12 gene:
    Search GeneIP for patents involving TSPAN12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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