SPEF2
entrez
79925
canonical
uniprot
Q9C093
canonical
ensembl
ENSG00000152582
resolver
ensp
ENSP00000282469
resolver
ensp
ENSP00000348314
resolver
ensp
ENSP00000412125
resolver
ensp
ENSP00000696967
resolver
ensp
ENSP00000792623
resolver
genesymbol
SPEF2
resolver
genesymbol_syn
KIAA1770
resolver
genesymbol_syn
KPL2
resolver
hgnc
HGNC:26293
resolver
uniprot
A0A140VKD0
resolver
uniprot
Q2TAC9
resolver
uniprot
Q96LL6
resolver
uniprot
Q9H5C7
resolver
uniprot
Q9H5Q7
resolver
uniprot_entry
A0A140VKD0_HUMAN
resolver
uniprot_entry
SPEF2_HUMAN
resolver
uniprot_sec
Q2TAC9
resolver
uniprot_sec
Q96LL6
resolver
uniprot_sec
Q9H5C7
resolver
uniprot_sec
Q9H5Q7
resolver
amino_acid_sequence
MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEAEDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYREEQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAFHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGETMLSANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKGKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTVLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQDTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMDNSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPPMAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLNLGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENPLEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEEFPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLKHPFIQDLISNYSDYKFPDIKIILQRSEHVQGSDGERSPSRHTEEKK
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 43 (SPGF43) [MIM:618751]: An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella. {ECO:0000269|PubMed:31048344, ECO:0000269|PubMed:31151990, ECO:0000269|PubMed:31278745}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis (PubMed:31048344, PubMed:31151990, PubMed:31278745). Plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity). Required for normal beat frequency of tracheal epithelial cilia and oviduct cilia (By similarity). {ECO:0000250|UniProtKB:Q8C9J3, ECO:0000269|PubMed:31048344, ECO:0000269|PubMed:31151990, ECO:0000269|PubMed:31278745}.
uniprot
proteins
mass_dalton
209811
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19889948
uniprot
proteins
pubmed
31048344
uniprot
proteins
pubmed
31151990
uniprot
proteins
pubmed
31278745
uniprot
proteins
pubmed
31545650
uniprot
proteins
pubmed
31942643
uniprot
proteins
pubmed
38568462
uniprot
proteins
sequence_length
1822
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:31048344, ECO:0000269|PubMed:31151990, ECO:0000269|PubMed:31278745}. Cytoplasm, cytoskeleton, flagellum basal body {ECO:0000250|UniProtKB:Q8C9J3}. Cytoplasm {ECO:0000250|UniProtKB:Q8C9J3}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8C9J3}. Golgi apparatus {ECO:0000250|UniProtKB:Q8C9J3}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:31545650}. Note=Shows dynamic localization in developing spermatozoa (By similarity). Localizes to the manchette in step 10-12 elongating spermatids (By similarity). Detected in the basal body and neck area of step 13-14 spermatids (By similarity). Localizes to the midpiece of the sperm tail in step 15-16 spermatids (By similarity). During the epididymal transport of spermatozoa, expression in the sperm tail reduces and becomes concentrated at the distal part of the midpiece (By similarity). Detected in the Golgi apparatus of late spermatocytes and round spermatids (By similarity). Detected in the cytoplasm of Sertoli cells (By similarity). Detected in the axoneme of ciliated respiratory epithelial cells (PubMed:31545650). {ECO:0000250|UniProtKB:Q8C9J3, ECO:0000269|PubMed:31545650}.
uniprot
proteins