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Aliases for TSPAN12 Gene

Aliases for TSPAN12 Gene

  • Tetraspanin 12 2 3 5
  • Transmembrane 4 Superfamily Member 12 2 3 4
  • Tetraspan NET-2 3 4
  • Tspan-12 3 4
  • TM4SF12 3 4
  • NET2 3 4
  • Tetraspanin-12 3
  • NET-2 3
  • EVR5 3

External Ids for TSPAN12 Gene

Previous HGNC Symbols for TSPAN12 Gene

  • TM4SF12

Previous GeneCards Identifiers for TSPAN12 Gene

  • GC07M120022
  • GC07M120214
  • GC07M120427
  • GC07M114790

Summaries for TSPAN12 Gene

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 Exudative Vitreoretinopathy 5 and Persistent Hyperplastic Primary Vitreous, Autosomal Recessive. GO annotations related to this gene include Wnt-activated receptor activity.

UniProtKB/Swiss-Prot for TSPAN12 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPAN12 Gene

Genomics for TSPAN12 Gene

Regulatory Elements for TSPAN12 Gene

Enhancers for TSPAN12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F120949 1.4 FANTOM5 ENCODE 36.9 -92.6 -92630 3.4 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 TSPAN12 ING3 RNA5SP240 GC07M120983
GH07F120856 1.1 ENCODE 29.4 +0.6 598 3.5 HDGF PKNOX1 WRNIP1 SIN3A YBX1 FEZF1 GLI4 DMAP1 ZNF48 ZNF2 TSPAN12 ENSG00000231295
GH07F120864 0.6 ENCODE 39.8 -6.5 -6486 1.4 PKNOX1 SMARCA4 MTA2 IKZF1 EBF1 ATF2 TSPAN12 ING3
GH07F120987 1.4 FANTOM5 ENCODE 14.5 -132.5 -132460 7.1 HDGF PKNOX1 ARNT WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS TSPAN12 ING3 CPED1 HMGN1P18
GH07F120829 0.4 ENCODE 48.5 +28.8 28798 0.9 MLLT1 YY1 TSPAN12 ENSG00000231295
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSPAN12 on UCSC Golden Path with GeneCards custom track

Promoters for TSPAN12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000633433 901 2600 HDGF PKNOX1 WRNIP1 SIN3A YBX1 FEZF1 GLI4 DMAP1 ZNF48 ZNF2

Genomic Location for TSPAN12 Gene

Chromosome:
7
Start:
120,787,320 bp from pter
End:
120,858,402 bp from pter
Size:
71,083 bases
Orientation:
Minus strand

Genomic View for TSPAN12 Gene

Genes around TSPAN12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN12 Gene

Proteins for TSPAN12 Gene

  • Protein details for TSPAN12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95859-TSN12_HUMAN
    Recommended name:
    Tetraspanin-12
    Protein Accession:
    O95859
    Secondary Accessions:
    • A4D0V8
    • B4DRG6
    • Q549U9
    • Q8N5Y0

    Protein attributes for TSPAN12 Gene

    Size:
    305 amino acids
    Molecular mass:
    35383 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for TSPAN12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSPAN12 Gene

Post-translational modifications for TSPAN12 Gene

  • 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-83.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TSPAN12 Gene

Domains & Families for TSPAN12 Gene

Gene Families for TSPAN12 Gene

Suggested Antigen Peptide Sequences for TSPAN12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95859

UniProtKB/Swiss-Prot:

TSN12_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN12: view

Function for TSPAN12 Gene

Molecular function for TSPAN12 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for TSPAN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042813 NOT Wnt-activated receptor activity ISS --
genes like me logo Genes that share ontologies with TSPAN12: view
genes like me logo Genes that share phenotypes with TSPAN12: view

Human Phenotype Ontology for TSPAN12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSPAN12 Gene

MGI Knock Outs for TSPAN12:

Animal Model Products

  • Taconic Biosciences Mouse Models for TSPAN12

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSPAN12 Gene

Localization for TSPAN12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN12 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSPAN12 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TSPAN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA,TAS 10719184
GO:0016021 integral component of membrane IEA,TAS 10719184
genes like me logo Genes that share ontologies with TSPAN12: view

Pathways & Interactions for TSPAN12 Gene

SuperPathways for TSPAN12 Gene

No Data Available

SIGNOR curated interactions for TSPAN12 Gene

Activates:

Gene Ontology (GO) - Biological Process for TSPAN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007166 cell surface receptor signaling pathway ISS --
GO:0010842 retina layer formation ISS --
GO:0045765 regulation of angiogenesis ISS --
genes like me logo Genes that share ontologies with TSPAN12: view

No data available for Pathways by source for TSPAN12 Gene

Transcripts for TSPAN12 Gene

Unigene Clusters for TSPAN12 Gene

Tetraspanin 12:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN12 Gene

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: - - - - -
SP6: - - - - -
SP7: - -
SP8: - - - -
SP9: - - - - - - - - - - - - -
SP10: -
SP11:
SP12:

Relevant External Links for TSPAN12 Gene

GeneLoc Exon Structure for
TSPAN12
ECgene alternative splicing isoforms for
TSPAN12

Expression for TSPAN12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSPAN12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSPAN12 Gene

This gene is overexpressed in Adrenal Gland (x6.0).

Protein differential expression in normal tissues from HIPED for TSPAN12 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TSPAN12 Gene



Protein tissue co-expression partners for TSPAN12 Gene

NURSA nuclear receptor signaling pathways regulating expression of TSPAN12 Gene:

TSPAN12

SOURCE GeneReport for Unigene cluster for TSPAN12 Gene:

Hs.16529
genes like me logo Genes that share expression patterns with TSPAN12: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TSPAN12 Gene

Orthologs for TSPAN12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSPAN12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSPAN12 34 35
  • 99.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TSPAN12 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSPAN12 34 35
  • 92.02 (n)
dog
(Canis familiaris)
Mammalia TSPAN12 34 35
  • 91.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TSPAN12 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tspan12 34 16 35
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Tspan12 34
  • 88.63 (n)
chicken
(Gallus gallus)
Aves TSPAN12 34 35
  • 84.26 (n)
lizard
(Anolis carolinensis)
Reptilia TSPAN12 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tspan12 34
  • 77.3 (n)
zebrafish
(Danio rerio)
Actinopterygii tspan12 34 35
  • 67.12 (n)
zgc63880 34
Species where no ortholog for TSPAN12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TSPAN12 Gene

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

Paralogs for TSPAN12 Gene

(3) SIMAP similar genes for TSPAN12 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for TSPAN12 Gene

genes like me logo Genes that share paralogs with TSPAN12: view

No data available for Paralogs for TSPAN12 Gene

Variants for TSPAN12 Gene

Sequence variations from dbSNP and Humsavar for TSPAN12 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs267607151 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310], Pathogenic 120,806,599(-) TCCCA(C/G)GATGT reference, missense
rs267607152 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310], Pathogenic 120,815,787(-) TTTGC(A/T)TGTCA intron-variant, upstream-variant-2KB, reference, missense
rs267607154 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310], Pathogenic 120,788,801(-) TCCTG(C/G)CCATG reference, missense
rs538591733 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310], Pathogenic 120,840,030(+) ACCTC(A/G/T)TTTCT reference, missense
rs587777283 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310], Pathogenic 120,810,518(+) ATCCA(C/T)AATTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TSPAN12 Gene

Variant ID Type Subtype PubMed ID
nsv1076946 CNV deletion 25765185
nsv5929 CNV deletion 18451855
nsv7405 OTHER inversion 18451855

Variation tolerance for TSPAN12 Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSPAN12 Gene

Human Gene Mutation Database (HGMD)
TSPAN12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPAN12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN12 Gene

Disorders for TSPAN12 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TSPAN12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
exudative vitreoretinopathy 5
  • vitreoretinopathy, exudative 5
norrie disease
  • atrophia bulborum hereditaria
persistent hyperplastic primary vitreous, autosomal recessive
  • retinal nonattachment, nonsyndromic congenital
exudative vitreoretinopathy
  • familial exudative vitreoretinopathy
tspan12-related familial exudative vitreoretinopathy, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TSN12_HUMAN
  • 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. {ECO:0000269 PubMed:20159111, ECO:0000269 PubMed:20159112, ECO:0000269 PubMed:22427576}. 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). {ECO:0000269 PubMed:22427576}.

Relevant External Links for TSPAN12

Genetic Association Database (GAD)
TSPAN12
Human Genome Epidemiology (HuGE) Navigator
TSPAN12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSPAN12
genes like me logo Genes that share disorders with TSPAN12: view

No data available for Genatlas for TSPAN12 Gene

Publications for TSPAN12 Gene

  1. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). (PMID: 22427576) Poulter J.A. … Toomes C. (Invest. Ophthalmol. Vis. Sci. 2012) 3 4 64
  2. 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. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
  3. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (PMID: 20159111) Nikopoulos K. … Collin R.W. (Am. J. Hum. Genet. 2010) 3 4 64
  4. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. (PMID: 20159112) Poulter J.A. … Toomes C. (Am. J. Hum. Genet. 2010) 3 4 64
  5. Tetraspanin12 regulates ADAM10-dependent cleavage of amyloid precursor protein. (PMID: 19587294) Xu D. … Hemler M.E. (FASEB J. 2009) 3 4 64

Products for TSPAN12 Gene

Sources for TSPAN12 Gene

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