TSPAN7: Difference between revisions

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{{Infobox_gene}}
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'''Tetraspanin-7''' is a [[protein]] that in humans is encoded by the ''TSPAN7'' [[gene]].<ref name="pmid12070254">{{cite journal |vauthors=Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE | title = A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 | journal = J Med Genet | volume = 39 | issue = 6 | pages = 430–3 |date=Jun 2002 | pmid = 12070254 | pmc = 1735161 | doi =10.1136/jmg.39.6.430 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TSPAN7 tetraspanin 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7102| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Tetraspanin 7
| HGNCid = 11854
| Symbol = TSPAN7
| AltSymbols =; A15; CCG-B7; CD231; DXS1692E; MRX58; MXS1; TALLA-1; TM4SF2; TM4SF2b
| OMIM = 300096
| ECnumber = 
| Homologene = 20967
| MGIid = 1298407
| GeneAtlas_image1 = PBB_GE_TSPAN7_202242_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0006487 |text = protein amino acid N-linked glycosylation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7102
    | Hs_Ensembl = ENSG00000156298
    | Hs_RefseqProtein = NP_004606
    | Hs_RefseqmRNA = NM_004615
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 38305553
    | Hs_GenLoc_end = 38433118
    | Hs_Uniprot = P41732
    | Mm_EntrezGene = 21912
    | Mm_Ensembl = ENSMUSG00000058254
    | Mm_RefseqmRNA = NM_019634
    | Mm_RefseqProtein = NP_062608
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 9642075
    | Mm_GenLoc_end = 9753565
    | Mm_Uniprot = Q3UHG5
  }}
}}
'''Tetraspanin 7''', also known as '''TSPAN7''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TSPAN7 tetraspanin 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7102| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy.<ref name="entrez">{{cite web | title = Entrez Gene: TSPAN7 tetraspanin 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7102| accessdate = }}</ref>
| summary_text = 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. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with [[X-linked mental retardation]] and neuropsychiatric diseases such as [[Huntington's chorea]], [[fragile X syndrome]] and [[myotonic dystrophy]].<ref name="entrez"/> More recently, it has been identified as a key immune system target in type 1 diabetes.<ref name="Diabetes">{{cite journal|last1=McLaughlin|first1=KA|last2=Richardson|first2=CC|title=Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes|journal=Diabetes|date=16 March 2016|doi=10.2337/db15-1058|pmid=26953162|volume=65|pages=1690–8}}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Castellví-Bel S, Milà M |title=Genes responsible for nonspecific mental retardation. |journal=Mol. Genet. Metab. |volume=72 |issue= 2 |pages= 104-8 |year= 2001 |pmid= 11161835 |doi= 10.1006/mgme.2000.3128 }}
*{{cite journal  |vauthors=Castellví-Bel S, Milà M |title=Genes responsible for nonspecific mental retardation |journal=Mol. Genet. Metab. |volume=72 |issue= 2 |pages= 104–8 |year= 2001 |pmid= 11161835 |doi= 10.1006/mgme.2000.3128 }}
*{{cite journal  | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye. |journal=J. Cell. Sci. |volume=114 |issue= Pt 23 |pages= 4143-51 |year= 2002 |pmid= 11739647 |doi=  }}
*{{cite journal  | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye |journal=J. Cell Sci. |volume=114 |issue= Pt 23 |pages= 4143–51 |year= 2002 |pmid= 11739647 |doi=  }}
*{{cite journal | author=Takagi S, Fujikawa K, Imai T, ''et al.'' |title=Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily. |journal=Int. J. Cancer |volume=61 |issue= 5 |pages= 706-15 |year= 1995 |pmid= 7768645 |doi=  }}
*{{cite journal   |vauthors=Takagi S, Fujikawa K, Imai T, etal |title=Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily |journal=Int. J. Cancer |volume=61 |issue= 5 |pages= 706–15 |year= 1995 |pmid= 7768645 |doi=10.1002/ijc.2910610519 }}
*{{cite journal | author=Virtaneva KI, Emi N, Marken JS, ''et al.'' |title=Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins. |journal=Immunogenetics |volume=39 |issue= 5 |pages= 329-34 |year= 1994 |pmid= 8168850 |doi=  }}
*{{cite journal   |vauthors=Virtaneva KI, Emi N, Marken JS, etal |title=Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins |journal=Immunogenetics |volume=39 |issue= 5 |pages= 329–34 |year= 1994 |pmid= 8168850 |doi=10.1007/BF00189229 }}
*{{cite journal | author=Li SH, McInnis MG, Margolis RL, ''et al.'' |title=Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. |journal=Genomics |volume=16 |issue= 3 |pages= 572-9 |year= 1993 |pmid= 8325628 |doi= 10.1006/geno.1993.1232 }}
*{{cite journal   |vauthors=Li SH, McInnis MG, Margolis RL, etal |title=Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms |journal=Genomics |volume=16 |issue= 3 |pages= 572–9 |year= 1993 |pmid= 8325628 |doi= 10.1006/geno.1993.1232 }}
*{{cite journal | author=Emi N, Kitaori K, Seto M, ''et al.'' |title=Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily. |journal=Immunogenetics |volume=37 |issue= 3 |pages= 193-8 |year= 1993 |pmid= 8420826 |doi=  }}
*{{cite journal   |vauthors=Emi N, Kitaori K, Seto M, etal |title=Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily |journal=Immunogenetics |volume=37 |issue= 3 |pages= 193–8 |year= 1993 |pmid= 8420826 |doi=10.1007/BF00191884 }}
*{{cite journal | author=Serru V, Le Naour F, Billard M, ''et al.'' |title=Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions. |journal=Biochem. J. |volume=340 ( Pt 1) |issue=  |pages= 103-11 |year= 1999 |pmid= 10229664 |doi=  }}
*{{cite journal   |vauthors=Serru V, Le Naour F, Billard M, etal |title=Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions |journal=Biochem. J. |volume=340 |issue=  Pt 1|pages= 103–11 |year= 1999 |pmid= 10229664 |doi=10.1042/0264-6021:3400103  | pmc=1220227 }}
*{{cite journal | author=Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, ''et al.'' |title=Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region. |journal=Am. J. Med. Genet. |volume=86 |issue= 2 |pages= 102-6 |year= 1999 |pmid= 10449641 |doi=  }}
*{{cite journal   |vauthors=Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, etal |title=Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region |journal=Am. J. Med. Genet. |volume=86 |issue= 2 |pages= 102–6 |year= 1999 |pmid= 10449641 |doi=10.1002/(SICI)1096-8628(19990910)86:2<102::AID-AJMG2>3.0.CO;2-C }}
*{{cite journal | author=Hosokawa Y, Ueyama E, Morikawa Y, ''et al.'' |title=Molecular cloning of a cDNA encoding mouse A15, a member of the transmembrane 4 superfamily, and its preferential expression in brain neurons. |journal=Neurosci. Res. |volume=35 |issue= 4 |pages= 281-90 |year= 2000 |pmid= 10617319 |doi=  }}
*{{cite journal   |vauthors=Hosokawa Y, Ueyama E, Morikawa Y, etal |title=Molecular cloning of a cDNA encoding mouse A15, a member of the transmembrane 4 superfamily, and its preferential expression in brain neurons |journal=Neurosci. Res. |volume=35 |issue= 4 |pages= 281–90 |year= 2000 |pmid= 10617319 |doi=10.1016/S0168-0102(99)00093-0 }}
*{{cite journal | author=Zemni R, Bienvenu T, Vinet MC, ''et al.'' |title=A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. |journal=Nat. Genet. |volume=24 |issue= 2 |pages= 167-70 |year= 2000 |pmid= 10655063 |doi= 10.1038/72829 }}
*{{cite journal   |vauthors=Zemni R, Bienvenu T, Vinet MC, etal |title=A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation |journal=Nat. Genet. |volume=24 |issue= 2 |pages= 167–70 |year= 2000 |pmid= 10655063 |doi= 10.1038/72829 }}
*{{cite journal | author=Domínguez-Jiménez C, Yáñez-Mó M, Carreira A, ''et al.'' |title=Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II. |journal=FASEB J. |volume=15 |issue= 8 |pages= 1457-9 |year= 2001 |pmid= 11387256 |doi=  }}
*{{cite journal   |vauthors=Domínguez-Jiménez C, Yáñez-Mó M, Carreira A, etal |title=Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II |journal=FASEB J. |volume=15 |issue= 8 |pages= 1457–9 |year= 2001 |pmid= 11387256 |doi=  }}
*{{cite journal | author=Abidi FE, Holinski-Feder E, Rittinger O, ''et al.'' |title=A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. |journal=J. Med. Genet. |volume=39 |issue= 6 |pages= 430-3 |year= 2002 |pmid= 12070254 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281–9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
*{{cite journal  | author=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281-9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
*{{cite journal   |vauthors=Maranduba CM, Sá Moreira E, Müller Orabona G, etal |title=Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? |journal=Am. J. Med. Genet. A |volume=124 |issue= 4 |pages= 413–5 |year= 2004 |pmid= 14735593 |doi= 10.1002/ajmg.a.20401 }}
*{{cite journal | author=Maranduba CM, Sá Moreira E, Müller Orabona G, ''et al.'' |title=Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? |journal=Am. J. Med. Genet. A |volume=124 |issue= 4 |pages= 413-5 |year= 2004 |pmid= 14735593 |doi= 10.1002/ajmg.a.20401 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein–protein interactions by mass spectrometry |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}
*{{cite journal | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
*{{cite journal  |vauthors=McLaughlin KA, Richardson CC, Ravishankar A, etal |title=Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes |journal=Diabetes |volume= 65|issue= |pages=  1690–8|year= 2007 |pmid= 26953162 |doi= 10.2337/db15-1058  }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 21:04, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.[1][2]

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. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy.[2] More recently, it has been identified as a key immune system target in type 1 diabetes.[3]

References

  1. Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (Jun 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". J Med Genet. 39 (6): 430–3. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
  2. 2.0 2.1 "Entrez Gene: TSPAN7 tetraspanin 7".
  3. McLaughlin, KA; Richardson, CC (16 March 2016). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes. 65: 1690–8. doi:10.2337/db15-1058. PMID 26953162.

Further reading