TSPAN12

Protein-coding gene in humans
TSPAN12
Identifiers
AliasesTSPAN12, EVR5, NET-2, NET2, TM4SF12, tetraspanin 12
External IDsOMIM: 613138 MGI: 1889818 HomoloGene: 8212 GeneCards: TSPAN12
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for TSPAN12
Genomic location for TSPAN12
Band7q31.31Start120,787,320 bp[1]
End120,858,402 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for TSPAN12
Genomic location for TSPAN12
Band6|6 A3.1Start21,771,394 bp[2]
End21,852,514 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • kidney tubule

  • secondary oocyte

  • right adrenal gland

  • right ventricle

  • lower lobe of lung

  • jejunal mucosa

  • glomerulus

  • metanephric glomerulus

  • left adrenal gland
Top expressed in
  • brown adipose tissue

  • parotid gland

  • submandibular gland

  • white adipose tissue

  • intercostal muscle

  • liver

  • adrenal gland

  • mucosa of urinary bladder

  • left lobe of liver

  • otic placode
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • Wnt-activated receptor activity
Cellular component
  • membrane
  • plasma membrane
  • integral component of membrane
  • integral component of plasma membrane
Biological process
  • angiogenesis
  • retina layer formation
  • regulation of angiogenesis
  • cell surface receptor signaling pathway
  • Wnt signaling pathway
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

23554

269831

Ensembl

ENSG00000106025

ENSMUSG00000029669

UniProt

O95859

Q8BKT6

RefSeq (mRNA)

NM_012338

NM_173007
NM_001363814

RefSeq (protein)

NP_036470

NP_766595
NP_001350743

Location (UCSC)Chr 7: 120.79 – 120.86 MbChr 6: 21.77 – 21.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tetraspanin-12 (Tspan-12) also known as tetraspan NET-2 (NET2) or transmembrane 4 superfamily member 12 (TM4SF12) is a tetraspanin protein that in humans is encoded by the TSPAN12 gene. Tetraspanin-12 is found in the membrane of a variety of cells. It has an unusually long C-terminal intracellular tail of approximately 60 amino acids.

Function

Its main binding partner is the ADAM10 protein,[5] a sheddase that interacts with a variety of adhesion molecules that are found on the cell membrane including L1-CAM, E-Cadherin, N-Cadherin and CD44.[6][7] It also binds to the MT1-MMP metalloprotease protein that is closely related to ADAM10 but has a minimal effect on promotion of expression and function.[8] TSPAN12 also seems to regulate vascular development, as shown by a study involving TSPAN12 knockout mice.[9] TSPAN12 is a significant contributor to primary and metastatic cancer and is responsible for protecting β-catenin from degradation.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106025 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029669 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Xu D, Sharma C, Hemler ME (November 2009). "Tetraspanin12 regulates ADAM10-dependent cleavage of amyloid precursor protein". FASEB J. 23 (11): 3674–81. doi:10.1096/fj.09-133462. PMC 2775005. PMID 19587294.
  6. ^ Lee SB, Schramme A, Doberstein K, Dummer R, Abdel-Bakky MS, Keller S, Altevogt P, Oh ST, Reichrath J, Oxmann D, Pfeilschifter J, Mihic-Probst D, Gutwein P (March 2010). "ADAM10 is upregulated in melanoma metastasis compared with primary melanoma". J. Invest. Dermatol. 130 (3): 763–73. doi:10.1038/jid.2009.335. PMID 19865098.
  7. ^ Anderegg U, Eichenberg T, Parthaune T, Haiduk C, Saalbach A, Milkova L, Ludwig A, Grosche J, Averbeck M, Gebhardt C, Voelcker V, Sleeman JP, Simon JC (June 2009). "ADAM10 is the constitutive functional sheddase of CD44 in human melanoma cells". J. Invest. Dermatol. 129 (6): 1471–82. doi:10.1038/jid.2008.323. PMID 18971959.
  8. ^ Lafleur MA, Xu D, Hemler ME (April 2009). "Tetraspanin proteins regulate membrane type-1 matrix metalloproteinase-dependent pericellular proteolysis". Mol. Biol. Cell. 20 (7): 2030–40. doi:10.1091/mbc.E08-11-1149. PMC 2663921. PMID 19211836.
  9. ^ Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W (October 2009). "TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling". Cell. 139 (2): 299–311. doi:10.1016/j.cell.2009.07.048. PMID 19837033. S2CID 2276711.
  10. ^ Knoblich K, Wang HX, Sharma C, Fletcher AL, Turley SJ, Hemler ME (April 2014). "Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation". Cell Mol Life Sci. 71 (7): 1305–14. doi:10.1007/s00018-013-1444-8. PMID 23955570. S2CID 16135992.

External links

  • GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
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ArrestinMembrane-spanning 4A
  • MS4A1
  • MS4A2
  • MS4A3
  • MS4A4A
  • MS4A4E
  • MS4A5
  • MS4A6A
  • MS4A6E
  • MS4A7
  • MS4A8B
  • MS4A9
  • MS4A10
  • MS4A12
  • MS4A13
  • MS4A14
  • MS4A15
  • MS4A18
MyelinPulmonary surfactantTetraspanin
Other/ungrouped
see also other cell membrane protein disorders


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