SPEF2: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''Sperm flagellar protein 2''' is a [[protein]] that in humans is encoded by the ''SPEF2'' [[gene]].<ref name="pmid11214970">{{cite journal | vauthors = Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 7 | issue = 6 | pages = 347–55 | date = December 2000 | pmid = 11214970 | pmc =  | doi = 10.1093/dnares/7.6.347 }}</ref><ref name="pmid16549801">{{cite journal | vauthors = Sironen A, Thomsen B, Andersson M, Ahola V, Vilkki J | title = An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 13 | pages = 5006–11 | date = March 2006 | pmid = 16549801 | pmc = 1458785 | doi = 10.1073/pnas.0506318103 }}</ref><ref name="pmid17610085">{{cite journal | vauthors = Sironen A, Vilkki J, Bendixen C, Thomsen B | title = Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene | journal = Molecular Genetics and Genomics | volume = 278 | issue = 4 | pages = 385–91 | date = October 2007 | pmid = 17610085 | pmc =  | doi = 10.1007/s00438-007-0256-7 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FLJ23577 KPL2 protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79925| accessdate = }}</ref>
'''Sperm flagellar protein 2''' is a [[protein]] that in humans is encoded by the ''SPEF2'' [[gene]].<ref name="pmid11214970">{{cite journal | vauthors = Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 7 | issue = 6 | pages = 347–55 | date = December 2000 | pmid = 11214970 | pmc =  | doi = 10.1093/dnares/7.6.347 }}</ref><ref name="pmid16549801">{{cite journal | vauthors = Sironen A, Thomsen B, Andersson M, Ahola V, Vilkki J | title = An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 13 | pages = 5006–11 | date = March 2006 | pmid = 16549801 | pmc = 1458785 | doi = 10.1073/pnas.0506318103 | url = https://pure.au.dk/ws/files/304964/picrender }}</ref><ref name="pmid17610085">{{cite journal | vauthors = Sironen A, Vilkki J, Bendixen C, Thomsen B | title = Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene | journal = Molecular Genetics and Genomics | volume = 278 | issue = 4 | pages = 385–91 | date = October 2007 | pmid = 17610085 | pmc =  | doi = 10.1007/s00438-007-0256-7 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FLJ23577 KPL2 protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79925| accessdate = }}</ref>


SPEF2 plays an important role in [[spermatogenesis]] and flagellar assembly.<ref name="pmid21715716">{{cite journal | vauthors = Sironen A, Kotaja N, Mulhern H, Wyatt TA, Sisson JH, Pavlik JA, Miiluniemi M, Fleming MD, Lee L | title = Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia | journal = Biology of Reproduction | volume = 85 | issue = 4 | pages = 690–701 | date = October 2011 | pmid = 21715716 | pmc = 3184289 | doi = 10.1095/biolreprod.111.091132 }}</ref> SPEF2 is expressed in all ciliated cells and is required for [[cilia]] function.<ref name=pmid21715716 /><ref name="Sironen_2010" />  Sperm contain cilia, and a [[mutation]] in the SPEF2 gene can cause [[male infertility]] due to immobile [[sperm]].<ref name=pmid21715716 /><ref name="Sironen_2010">{{cite journal | vauthors = Sironen A, Hansen J, Thomsen B, Andersson M, Vilkki J, Toppari J, Kotaja N | title = Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein | journal = Biology of Reproduction | volume = 82 | issue = 3 | pages = 580–90 | date = March 2010 | pmid = 19889948 | doi = 10.1095/biolreprod.108.074971 }}</ref> In a pig animal model, a SPEF2 mutation affects the sperm tail development.<ref name="Sironen_2010" /> And a loss of function mutation in SPEF2 in mice causes the big giant head phenotype.<ref name=pmid21715716 /> SPEF2 [[mRNA]] and protein products are localized in germ and [[sertoli]] cells.<ref name="Sironen_2010" />  Within these cells, SPEF2 is localized in the [[golgi complex]], manchette, [[basal body]] and mid piece of the sperm tail.<ref name="Sironen_2010" />  SPEF2 has been shown to interact with the intracellular transport protein [[IFT20]] in the testis.<ref name="Sironen_2010" />
SPEF2 plays an important role in [[spermatogenesis]] and flagellar assembly.<ref name="pmid21715716">{{cite journal | vauthors = Sironen A, Kotaja N, Mulhern H, Wyatt TA, Sisson JH, Pavlik JA, Miiluniemi M, Fleming MD, Lee L | title = Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia | journal = Biology of Reproduction | volume = 85 | issue = 4 | pages = 690–701 | date = October 2011 | pmid = 21715716 | pmc = 3184289 | doi = 10.1095/biolreprod.111.091132 }}</ref> SPEF2 is expressed in all ciliated cells and is required for [[cilia]] function.<ref name=pmid21715716 /><ref name="Sironen_2010" />  Sperm contain cilia, and a [[mutation]] in the SPEF2 gene can cause [[male infertility]] due to immobile [[sperm]].<ref name=pmid21715716 /><ref name="Sironen_2010">{{cite journal | vauthors = Sironen A, Hansen J, Thomsen B, Andersson M, Vilkki J, Toppari J, Kotaja N | title = Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein | journal = Biology of Reproduction | volume = 82 | issue = 3 | pages = 580–90 | date = March 2010 | pmid = 19889948 | doi = 10.1095/biolreprod.108.074971 }}</ref> In a pig animal model, a SPEF2 mutation affects the sperm tail development.<ref name="Sironen_2010" /> And a loss of function mutation in SPEF2 in mice causes the big giant head phenotype.<ref name=pmid21715716 /> SPEF2 [[mRNA]] and protein products are localized in germ and [[sertoli]] cells.<ref name="Sironen_2010" />  Within these cells, SPEF2 is localized in the [[golgi complex]], manchette, [[basal body]] and mid piece of the sperm tail.<ref name="Sironen_2010" />  SPEF2 has been shown to interact with the intracellular transport protein [[IFT20]] in the testis.<ref name="Sironen_2010" />

Latest revision as of 15:30, 4 November 2018

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

n/a

n/a

RefSeq (protein)

n/a

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

Sperm flagellar protein 2 is a protein that in humans is encoded by the SPEF2 gene.[1][2][3][4]

SPEF2 plays an important role in spermatogenesis and flagellar assembly.[5] SPEF2 is expressed in all ciliated cells and is required for cilia function.[5][6] Sperm contain cilia, and a mutation in the SPEF2 gene can cause male infertility due to immobile sperm.[5][6] In a pig animal model, a SPEF2 mutation affects the sperm tail development.[6] And a loss of function mutation in SPEF2 in mice causes the big giant head phenotype.[5] SPEF2 mRNA and protein products are localized in germ and sertoli cells.[6] Within these cells, SPEF2 is localized in the golgi complex, manchette, basal body and mid piece of the sperm tail.[6] SPEF2 has been shown to interact with the intracellular transport protein IFT20 in the testis.[6]

References

  1. Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O (December 2000). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (6): 347–55. doi:10.1093/dnares/7.6.347. PMID 11214970.
  2. Sironen A, Thomsen B, Andersson M, Ahola V, Vilkki J (March 2006). "An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig". Proceedings of the National Academy of Sciences of the United States of America. 103 (13): 5006–11. doi:10.1073/pnas.0506318103. PMC 1458785. PMID 16549801.
  3. Sironen A, Vilkki J, Bendixen C, Thomsen B (October 2007). "Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene". Molecular Genetics and Genomics. 278 (4): 385–91. doi:10.1007/s00438-007-0256-7. PMID 17610085.
  4. "Entrez Gene: FLJ23577 KPL2 protein".
  5. 5.0 5.1 5.2 5.3 Sironen A, Kotaja N, Mulhern H, Wyatt TA, Sisson JH, Pavlik JA, Miiluniemi M, Fleming MD, Lee L (October 2011). "Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia". Biology of Reproduction. 85 (4): 690–701. doi:10.1095/biolreprod.111.091132. PMC 3184289. PMID 21715716.
  6. 6.0 6.1 6.2 6.3 6.4 6.5 Sironen A, Hansen J, Thomsen B, Andersson M, Vilkki J, Toppari J, Kotaja N (March 2010). "Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein". Biology of Reproduction. 82 (3): 580–90. doi:10.1095/biolreprod.108.074971. PMID 19889948.

Further reading