SPEF2

Last updated
SPEF2
Identifiers
Aliases SPEF2 , CT122, KPL2, sperm flagellar 2, SPGF43
External IDs OMIM: 610172; MGI: 2443727; HomoloGene: 23371; GeneCards: SPEF2; OMA:SPEF2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

79925

320277

Ensembl

ENSG00000152582

ENSMUSG00000072663

UniProt

Q9C093

Q8C9J3

RefSeq (mRNA)

NM_024867
NM_144722

NM_177123
NM_001305042
NM_001305044

RefSeq (protein)

NP_079143
NP_653323

NP_001291971
NP_001291973
NP_796097

Location (UCSC) Chr 5: 35.62 – 35.81 Mb Chr 15: 9.58 – 9.75 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sperm flagellar protein 2 is a protein that in humans is encoded by the SPEF2 gene. [5] [6] [7] [8]

SPEF2 plays an important role in spermatogenesis and flagellar assembly. [9] SPEF2 is expressed in all ciliated cells and is required for cilia function. [9] [10] Sperm contain cilia, and a mutation in the SPEF2 gene can cause male infertility due to immobile sperm. [9] [10] In a pig animal model, a SPEF2 mutation affects the sperm tail development. [10] And a loss of function mutation in SPEF2 in mice causes the big giant head phenotype. [9] SPEF2 mRNA and protein products are localized in germ and sertoli cells. [10] Within these cells, SPEF2 is localized in the golgi complex, manchette, basal body and mid piece of the sperm tail. [10] SPEF2 has been shown to interact with the intracellular transport protein IFT20 in the testis. [10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000152582 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000072663 – 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. ↑ 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): 347–355. doi: 10.1093/dnares/7.6.347 . PMID   11214970.
  6. ↑ 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): 5006–5011. Bibcode:2006PNAS..103.5006S. doi: 10.1073/pnas.0506318103 . PMC   1458785 . PMID   16549801.
  7. ↑ 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): 385–391. doi:10.1007/s00438-007-0256-7. PMID   17610085. S2CID   6950948.
  8. ↑ "Entrez Gene: FLJ23577 KPL2 protein".
  9. 1 2 3 4 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.
  10. 1 2 3 4 5 6 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): 580–590. doi: 10.1095/biolreprod.108.074971 . PMID   19889948.

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