SPEF2

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

SPEF2
Identifiers
Aliases	SPEF2, CT122, KPL2, sperm flagellar 2, SPGF43
External IDs	OMIM: 610172; MGI: 2443727; HomoloGene: 23371; GeneCards: SPEF2; OMA:SPEF2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p13.2 Start 35,617,844 bp[1] End 35,814,611 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 A1 Start 9,578,279 bp[2] End 9,748,954 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell mucosa of paranasal sinus sperm canal of the cervix Achilles tendon olfactory zone of nasal mucosa body of uterus caput epididymis sural nerve Top expressed in olfactory epithelium spermatid spermatocyte seminiferous tubule embryo embryo Epithelium of choroid plexus granulocyte vestibular labyrinth right lung More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse 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
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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]