SPEF2 (sperm flagellar 2)

Gene

• Entrez ID: 79925
• Gene name: Sperm flagellar 2
• Gene symbol: SPEF2
• Synonyms (NCBI Gene): CT122, KPL2, SPGF43
• Disease Acronyms (UniProt): SPGF43
• Chromosome: 5
• Chromosome location: 5p13.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1391102782	C>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1383679	hsa-miR-4255	CLIP-seq
MIRT1383680	hsa-miR-4276	CLIP-seq
MIRT1383681	hsa-miR-4325	CLIP-seq
MIRT1383682	hsa-miR-450b-5p	CLIP-seq
MIRT1383683	hsa-miR-507	CLIP-seq
MIRT1383684	hsa-miR-557	CLIP-seq
MIRT2114832	hsa-miR-4445	CLIP-seq
MIRT2114833	hsa-miR-4477b	CLIP-seq
MIRT2114834	hsa-miR-500a	CLIP-seq
MIRT2114835	hsa-miR-554	CLIP-seq
MIRT2114836	hsa-miR-587	CLIP-seq
MIRT2114837	hsa-miR-885-5p	CLIP-seq
MIRT2631103	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002177	Component	Manchette	IBA	21873635
GO:0002177	Component	Manchette	ISS
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	ISS
GO:0003674	Function	Molecular_function	ND
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0007283	Process	Spermatogenesis	ISS
GO:0007288	Process	Sperm axoneme assembly	IBA	21873635
GO:0007288	Process	Sperm axoneme assembly	IMP	31048344, 31151990
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0036126	Component	Sperm flagellum	IDA	31048344, 31151990, 31278745
GO:0048705	Process	Skeletal system morphogenesis	ISS
GO:0048854	Process	Brain morphogenesis	ISS
GO:0060541	Process	Respiratory system development	ISS
GO:0097225	Component	Sperm midpiece	IBA	21873635
GO:0097225	Component	Sperm midpiece	ISS

Other IDs

• MIM: 610172
• HGNC: 26293
• e!Ensembl: ENSG00000152582

Protein

• UniProt ID: Q9C093
• Protein name: Sperm flagellar protein 2 (Protein KPL2)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06294	CH_2	5 → 102	CH-like domain in sperm protein	Domain
  PF00406	ADK	671 → 764		Domain

• Sequence:

  MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKL
  NNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTM
  QRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLER
  FQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKE
  AEDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEED
  AFAREQREKRRRKLLMDQLIAHEAQEEAYREEQLINRLMRQSQQERRIAVQLMHVRHEKE
  VLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQA
  RYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKT
  LPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLA
  EKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQA
  FHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGETMLSA
  NADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIPDVLLVDIIVNAINEIPVNQ
  DCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDF
  VILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGF
  LDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEK
  KAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGK
  GKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVP
  EEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTVLAYLYEIRTSFQEFLKRPDHKQDF
  VAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWL
  QDTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKD
  NSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMDNSLENVESNFEADEKLVMDTWQQA
  SLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSP
  PMAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLED
  LVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARYHIETSTKIQNELYLSQEDFFINGN
  IKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTL
  NLGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQK
  FKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENPLEPLPFNRQEHLIEFFFRLFADYE
  KDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAE
  EFPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRF
  ASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLKHPFIQDLISNYSDYKFPDIKIILQ
  RSEHVQGSDGERSPSRHTEEKK

• Sequence length: 1822

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Ciliary dyskinesia	Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia	rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450, rs121908854, rs121908855, rs1554294478, rs79967166, rs121908853, rs1580543863, rs62642057, rs62638634, rs137852549, rs606231180, rs606231181, rs387907021, rs397515392, rs397515393, rs387907092, rs387907093, rs387907151, rs387907152, rs397515395, rs587776910, rs145457535, rs368260932, rs147718607, rs606231238, rs606231239, rs201133219, rs606231240, rs672601333, rs751785066, rs397514561, rs397515413, rs397515414, rs397515424, rs141945265, rs397515425, rs200321595, rs312262868, rs587776997, rs142371860, rs373501414, rs397515540, rs397515541, rs397515563, rs587778819, rs587778820, rs587778821, rs587778822, rs138815960, rs587777043, rs587777044, rs397515460, rs587777045, rs200913791, rs397515461, rs587777047, rs587777048, rs587777049, rs138320978, rs587777058, rs587777059, rs151107532, rs397518455, rs397518456, rs397515340, rs397515488, rs397515621, rs397515622, rs397518458, rs201740530, rs886037653, rs863223325, rs143740376, rs398122401, rs869320683, rs398122960, rs369037463, rs398123336, rs281865301, rs62635001, rs62635002, rs62653029, rs281865304, rs281865296, rs62635010, rs62635009, rs62635011, rs62635013, rs62650215, rs62638627, rs62638626, rs62638639, rs62638642, rs281865297, rs62650216, rs62638652, rs62638655, rs62640586, rs62640588, rs62640592, rs281865295, rs587777199, rs587777498, rs587777499, rs587777500, rs587777501, rs587777502, rs587777503, rs587777635, rs587777780, rs727502975, rs727502971, rs727504802, rs727502977, rs727504815, rs727503394, rs730882261, rs780175755, rs769054713, rs374909386, rs796052117, rs796052118, rs875989825, rs796052119, rs797045086, rs797045085, rs797044945, rs397515341, rs544674332, rs771663107, rs797045152, rs797045151, rs777031813, rs142800871, rs760123202, rs145742175, rs202094637, rs863224531, rs756235547, rs863224503, rs769458738, rs863224504, rs754867753, rs863224519, rs771214648, rs748688175, rs755553133, rs566755911, rs779506456, rs748618094, rs148891849, rs864622512, rs762664261, rs1060501460, rs753614861, rs72657316, rs200693106, rs876657683, rs876657637, rs752924362, rs750708201, rs878855279, rs773801386, rs878855280, rs571919972, rs755407407, rs775946081, rs755596256, rs878854458, rs878854457, rs762081081, rs144711161, rs878854441, rs72657321, rs757013900, rs878854444, rs878854445, rs878854446, rs72657393, rs878854435, rs878854436, rs1554294459, rs878855036, rs878854968, rs769284314, rs200669099, rs878855078, rs878855041, rs878855042, rs879253744, rs201213030, rs771920114, rs868755574, rs754776389, rs775700619, rs886037888, rs886037889, rs886039500, rs886039340, rs769346541, rs886041376, rs753101269, rs886042735, rs886044152, rs201943194, rs886044302, rs775696136, rs78484669, rs773498002, rs138890576, rs577069249, rs587621539, rs200901816, rs1060501456, rs773711154, rs752925056, rs1554020233, rs1060501464, rs769691189, rs767019228, rs1060501461, rs1060501467, rs1060501455, rs1060501459, rs1060501457, rs1060501466, rs1060501458, rs775051461, rs1060501454, rs781469274, rs759059925, rs766256391, rs1060503056, rs1060503063, rs1060503388, rs371374918, rs1060503107, rs144405450, rs752479330, rs1060503041, rs774903187, rs1060503104, rs763569711, rs1060503495, rs1060503515, rs752795172, rs1060501178, rs372572996, rs902156961, rs1060502829, rs1060503433, rs1060502202, rs200708870, rs775299709, rs370706991, rs141581673, rs774081599, rs757536895, rs756430359, rs770143722, rs1064792947, rs1060501861, rs1060500990, rs1060502831, rs372166228, rs1060501181, rs1060500123, rs772219642, rs1064795496, rs1064794014, rs575017579, rs1555354198, rs779490893, rs1555961832, rs1555961852, rs1555964133, rs768986129, rs1355068287, rs751845138, rs745800344, rs1553800956, rs1210953680, rs1007345781, rs1553805885, rs1553803540, rs1553804209, rs1553804640, rs746049858, rs1554049087, rs1554058577, rs1474945018, rs1554074565, rs753397685, rs754698253, rs1554033855, rs1353723750, rs763440781, rs367877988, rs747900131, rs749082955, rs1554062097, rs1554090622, rs1554090927, rs767716511, rs1554017211, rs753130398, rs745918507, rs1273352530, rs1354919632, rs368644722, rs1161303371, rs1283070426, rs755136231, rs1443540935, rs548521732, rs989235687, rs776686983, rs1554101045, rs116128702, rs1554132747, rs376576474, rs775136764, rs1034327724, rs902750903, rs750528020, rs753496815, rs771781357, rs1261703349, rs765025514, rs1554309352, rs1286036654, rs72657333, rs1554269295, rs373844629, rs767595964, rs1554293484, rs775720394, rs1212535211, rs1162526607, rs769637393, rs1554312483, rs1164659091, rs1275718084, rs202236144, rs972753865, rs147811057, rs1554248794, rs1554248887, rs950490534, rs1554291973, rs1275662909, rs1229952265, rs1554255966, rs1465404366, rs1409069267, rs1555174708, rs777108430, rs1555328022, rs1555328130, rs1555328047, rs758650222, rs1555526915, rs746242380, rs1555519999, rs762843285, rs758109864, rs1555614910, rs751191119, rs756868374, rs773796940, rs1555875358, rs556286752, rs1186608353, rs1555723797, rs745465871, rs773208371, rs745993158, rs1554082275, rs1555961677, rs1349668884, rs751610886, rs376496894, rs1554292398, rs1555327917, rs375053470, rs981267400, rs1555721837, rs769795916, rs1462578042, rs146412095, rs1553804220, rs1415346246, rs1553805740, rs1553804100, rs1275367324, rs886059965, rs1554081658, rs754982008, rs1554035330, rs1554050517, rs1554072027, rs756032160, rs77377082, rs79185772, rs775866092, rs1304504006, rs1193586811, rs1554082872, rs768881056, rs1554019966, rs1554247978, rs774393276, rs1554248617, rs766707325, rs756868889, rs1554249521, rs1437893220, rs770372463, rs749731714, rs1233811324, rs1554281038, rs757784023, rs551275210, rs750603177, rs769220870, rs1380083184, rs1554282583, rs763900107, rs769224534, rs747121305, rs1554822213, rs1555328087, rs1555327928, rs1233603821, rs745495583, rs1555527001, rs897911822, rs780116486, rs1421531868, rs746361802, rs1555968248, rs144037391, rs1305797678, rs1555071691, rs561237622, rs767760877, rs754773453, rs1555069023, rs372118787, rs774493427, rs1569237206, rs1560079213, rs1560086701, rs1560092440, rs1370489117, rs1561097225, rs914675446, rs748171209, rs1188507108, rs1561487416, rs1561073938, rs769691641, rs1561215953, rs1175877764, rs146087064, rs1561532139, rs574586008, rs1561117442, rs1444391928, rs145974361, rs1561836628, rs376903331, rs769929539, rs1436804091, rs1285431486, rs180897552, rs1562590250, rs1562684798, rs374107286, rs1562521048, rs1175443221, rs1563815206, rs753580394, rs1560090006, rs1560092160, rs778577109, rs1561122898, rs745885469, rs1561477725, rs757801770, rs1561524235, rs771956532, rs1391084505, rs769267893, rs1297857806, rs751920647, rs755782051, rs756616538, rs767713588, rs1297261096, rs768447289, rs374718437, rs1484826593, rs1561241156, rs769544175, rs565076112, rs1158185476, rs776176679, rs1562782355, rs1223799853, rs776791493, rs368248592, rs753649614, rs148810969, rs1346603171, rs371595543, rs1418585908, rs1567818236, rs761851970, rs748869874, rs766394527, rs753915759, rs1159887305, rs770403610, rs1240172375, rs764011276, rs770946088, rs764551914, rs1480671731, rs1568667609, rs1568709952, rs747233125, rs750658321, rs543369426, rs1569122408, rs1561449604, rs750649191, rs1564805053, rs1564805039, rs372959912, rs1564800859, rs577714887, rs766482965, rs1267599270, rs763238622, rs143007518, rs1567808990, rs969193071, rs867177356, rs1569162748, rs1561476089, rs377691013, rs1309805676, rs1569237077, rs1327282449, rs767308949, rs139416233, rs1567819753, rs1448501611, rs748600370, rs1601943268, rs750136163, rs1576941580, rs1256848235, rs747980515, rs1245822059, rs760742856, rs1579881985, rs762673561, rs1579942226, rs1579942510, rs1579980919, rs1580072662, rs369683202, rs1580150353, rs764948792, rs760595654, rs1580180757, rs1580203399, rs560398270, rs1309660408, rs981622980, rs1580363231, rs1580457416, rs767779749, rs116524991, rs1580543538, rs1580578744, rs1221785647, rs1252973555, rs1580809557, rs778780449, rs1164037667, rs1580853061, rs1580412021, rs1398588555, rs1561121987, rs753041231, rs748664881, rs1400425886, rs760122351, rs757935663, rs149070832, rs747123680, rs1582373132, rs1554149875, rs559143773, rs1583508118, rs949492765, rs1583567611, rs373946181, rs1237605731, rs756115857, rs1583806864, rs761855200, rs759332741, rs1489856215, rs201507046, rs1583517442, rs770251775, rs1586586381, rs369669370, rs1588663203, rs776979382, rs1003676784, rs1594608287, rs1489377964, rs1598330492, rs1598342751, rs755004291, rs1278589861, rs1277185772, rs763874734, rs753105954, rs373312648, rs369312501, rs1580179985, rs1580411207, rs1580465796, rs1579894454, rs1580143916, rs1582865345, rs200115379, rs372080325, rs1583570354, rs1583647043, rs72657354, rs767624733, rs1587089935, rs1587067513, rs1587091911, rs746849797, rs1598278059, rs1580731750, rs368110732, rs1597843267, rs1598348312, rs1217845018, rs1598372830, rs1598372841, rs1598372878, rs1598372791, rs1580402818, rs752527657, rs1601917999, rs1601922202, rs1601961064, rs1601982532, rs759302236, rs1597643228, rs1598293348, rs1601918140, rs745839898, rs1555961440, rs1601920423, rs907856232, rs281865302, rs1601972255, rs1601931052, rs1745570250, rs149368374, rs1601943325, rs1253689023, rs1575588483, rs1575215909, rs766982731, rs782603932, rs201244916, rs781864891, rs372955658, rs758482424, rs1601920532, rs1601924055, rs1601982474, rs1663812465, rs757823891, rs771057685, rs1711717951, rs1743041017, rs1744302993, rs1744309029, rs1744699899, rs1750171365, rs1750339039, rs1751962280, rs1752478598, rs1561215326, rs1264701182, rs1754234425, rs1465499923, rs1762460445, rs1762470883, rs148139814, rs760081822, rs1772369775, rs189080233, rs1778379197, rs1291689114, rs1176911729, rs769899297, rs1745583820, rs757303224, rs762267064, rs1416631904, rs749372718, rs72655998, rs756850884, rs765778415, rs1479385947, rs72658823, rs1162823375, rs370565524, rs746849639, rs973819096, rs1818211696, rs979934112, rs772133192, rs2051792816, rs2053367000, rs1567876609, rs2038617610, rs2085791151, rs770306950, rs2067876063, rs1468349011, rs1815572053, rs1268770869, rs1360420006, rs1772232595, rs774855011, rs1785786687, rs1788083949, rs2051550027, rs2037540861, rs753831132, rs937290981, rs766759197, rs1336208372, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067140471, rs2067144007, rs2067146007, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067172824, rs2067174697, rs1233849070, rs2067182354, rs2067182636, rs2067184023, rs2067187127, rs2067187618, rs2067188031, rs2067191335, rs2067193056, rs2067194648, rs2067406342, rs2067451355, rs2067700774, rs2067878321, rs2067878443, rs1718119792, rs1704217868, rs1704650728, rs1273109738, rs1768634470, rs1769225531, rs1298746949, rs1784195520, rs1788086604, rs1789346276, rs2058179740, rs2038565518, rs781949585, rs2038760864, rs1718195095, rs1783569129, rs1739374011, rs2082305577, rs2067148119, rs2067166789, rs2067172385, rs2067179633, rs2067200470, rs2067498092, rs771953930	31545650
Kartagener syndrome	Kartagener Syndrome, Polynesian Bronchiectasis	rs397515339, rs267607227, rs137853191, rs397515363, rs606231164, rs79833450, rs606231165, rs387907021, rs147718607, rs397515563, rs138815960, rs587777047, rs138320978, rs587777059, rs151107532, rs201740530, rs869320683, rs587777780, rs587778819, rs397515341, rs544674332, rs771663107, rs760123202, rs876657683, rs769284314, rs200669099, rs1060503515, rs773208371, rs745993158, rs1554082275, rs751920647, rs368248592	31545650
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	21244703
Non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder	rs753307279

Unknown
Disease term	Disease name	Evidence	References	Source
Spermatogenic Failure	spermatogenic failure 43			GenCC
Non-Syndromic Male Infertility Due To Sperm Motility Disorder	non-syndromic male infertility due to sperm motility disorder			GenCC
Eczema	Eczema			GWAS
Hypothyroidism	Hypothyroidism			GWAS
Asthma	Asthma			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Biliary Cholangitis	Biliary Cholangitis			GWAS
Crohn Disease	Crohn Disease			GWAS
Psoriasis	Psoriasis			GWAS
Dermatitis	Dermatitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Asthenozoospermia	Associate	34755699
Ciliary Motility Disorders	Associate	38568462
Immunologic Deficiency Syndromes	Associate	36742411
Infertility	Associate	38568462
Infertility Male	Associate	38568462
Lymphoma	Associate	37801226
Macular Degeneration	Associate	32246154
Nasopharyngeal Carcinoma	Associate	31770211
Neoplasms	Associate	35500227
Pancreatitis	Associate	28574850
Thrombosis	Associate	28574850