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Aliases for TSPAN12 Gene

Aliases for TSPAN12 Gene

  • Tetraspanin 12 2 3
  • Transmembrane 4 Superfamily Member 12 2 3 4
  • NET2 3 4 6
  • Tetraspan NET-2 3 4
  • Tspan-12 3 4
  • TM4SF12 3 4
  • EVR5 3 6
  • Tetraspanin-12 3
  • NET-2 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 tspan12-related familial exudative vitreoretinopathy, autosomal dominant. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TSPAN12 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TSPAN12 Gene at MOPED

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

Other Protein References for TSPAN12 Gene

No data available for DME Specific Peptides for TSPAN12 Gene

Domains for TSPAN12 Gene

Gene Families for TSPAN12 Gene

HGNC:

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 :
  • O95859
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

Animal Model Products

CRISPR Products

miRNA for TSPAN12 Gene

miRTarBase miRNAs that target TSPAN12

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TSPAN12

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for TSPAN12 Gene COMPARTMENTS Subcellular localization image for TSPAN12 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TSPAN12 Gene

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

Pathways for TSPAN12 Gene

SuperPathways for TSPAN12 Gene

No Data Available

Interacting Proteins for TSPAN12 Gene

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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TSPAN12

Primer 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 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 (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TSPAN12 Gene

SOURCE GeneReport for Unigene cluster for TSPAN12 Gene Hs.16529

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

In Situ Assay 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 35
  • 99.56 (n)
  • 100 (a)
TSPAN12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSPAN12 35
  • 92.02 (n)
  • 98.03 (a)
TSPAN12 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSPAN12 35
  • 91.37 (n)
  • 98.36 (a)
TSPAN12 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tspan12 35
  • 89.51 (n)
  • 98.03 (a)
Tspan12 16
Tspan12 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSPAN12 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSPAN12 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tspan12 35
  • 88.63 (n)
  • 98.03 (a)
chicken
(Gallus gallus)
Aves TSPAN12 35
  • 84.26 (n)
  • 93.77 (a)
TSPAN12 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSPAN12 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tspan12 35
  • 77.3 (n)
  • 81.25 (a)
zebrafish
(Danio rerio)
Actinopterygii tspan12 35
  • 67.12 (n)
  • 70.03 (a)
tspan12 36
  • 69 (a)
OneToOne
zgc63880 35
Species with no ortholog for TSPAN12:
  • 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

Selected 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 MAF
rs41622 -- 120,788,553(+) GTCCA(A/G)TAAAA utr-variant-3-prime
rs41623 -- 120,788,745(+) GTCCC(A/C)GGCTC reference, synonymous-codon
rs41624 -- 120,795,584(+) GCTTA(C/T)GAAGA intron-variant
rs41625 -- 120,797,144(+) agagc(C/G)agatt intron-variant
rs41626 -- 120,797,553(+) TTCTG(C/T)CTCCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
nsv5929 CNV Loss 18451855

Relevant External Links for TSPAN12 Gene

HapMap Linkage Disequilibrium report
TSPAN12
Human Gene Mutation Database (HGMD)
TSPAN12

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

Disorders for TSPAN12 Gene

(1) OMIM Diseases for TSPAN12 Gene (613138)

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}.

(3) University of Copenhagen DISEASES for TSPAN12 Gene

Relevant External Links for TSPAN12

Genetic Association Database (GAD)
TSPAN12
Human Genome Epidemiology (HuGE) Navigator
TSPAN12
genes like me logo Genes that share disorders with TSPAN12: view

Publications for TSPAN12 Gene

  1. Sequence and expression of seven new tetraspans. (PMID: 10719184) Serru V. … Rubinstein E. (Biochim. Biophys. Acta 2000) 3 4
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  5. 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 48

Products for TSPAN12 Gene

  • antibodies-online peptides for TSPAN12
  • antibodies-online antibodies for TSPAN12
  • antibodies-online kits for TSPAN12

Sources for TSPAN12 Gene

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