TEX14 (testis expressed 14, intercellular bridge forming factor)

Gene

• Entrez ID: 56155
• Gene name: Testis expressed 14, intercellular bridge forming factor
• Gene symbol: TEX14
• Synonyms: CT113, SPGF23, SgK307
• Chromosome: 17
• Chromosome location: 17q22
• Summary: The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35551271	G>C	Likely-pathogenic, benign	5 prime UTR variant, missense variant, coding sequence variant
rs147575609	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs761592042	C>A,T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1555568575	CCGGTGGCTTG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1419170	hsa-miR-3688-5p	CLIP-seq
MIRT1419171	hsa-miR-4474-3p	CLIP-seq
MIRT1419172	hsa-miR-4796-5p	CLIP-seq
MIRT1419173	hsa-miR-885-3p	CLIP-seq
MIRT1419174	hsa-miR-1197	CLIP-seq
MIRT1419175	hsa-miR-3136-5p	CLIP-seq
MIRT1419176	hsa-miR-345	CLIP-seq
MIRT1419177	hsa-miR-3609	CLIP-seq
MIRT1419178	hsa-miR-3672	CLIP-seq
MIRT1419179	hsa-miR-371-5p	CLIP-seq
MIRT1419180	hsa-miR-3942-3p	CLIP-seq
MIRT1419181	hsa-miR-4436a	CLIP-seq
MIRT1419182	hsa-miR-4439	CLIP-seq
MIRT1419183	hsa-miR-4513	CLIP-seq
MIRT1419184	hsa-miR-510	CLIP-seq
MIRT1419185	hsa-miR-520g	CLIP-seq
MIRT1419186	hsa-miR-520h	CLIP-seq
MIRT1419187	hsa-miR-548ah	CLIP-seq
MIRT1419188	hsa-miR-600	CLIP-seq
MIRT1419189	hsa-miR-888	CLIP-seq
MIRT1419177	hsa-miR-3609	CLIP-seq
MIRT1419170	hsa-miR-3688-5p	CLIP-seq
MIRT1419171	hsa-miR-4474-3p	CLIP-seq
MIRT1419185	hsa-miR-520g	CLIP-seq
MIRT1419186	hsa-miR-520h	CLIP-seq
MIRT1419187	hsa-miR-548ah	CLIP-seq
MIRT1419173	hsa-miR-885-3p	CLIP-seq
MIRT2461319	hsa-miR-1253	CLIP-seq
MIRT2461320	hsa-miR-28-5p	CLIP-seq
MIRT2461321	hsa-miR-3139	CLIP-seq
MIRT2461322	hsa-miR-4311	CLIP-seq
MIRT2461323	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	IBA	21873635
GO:0000776	Component	Kinetochore	ISS
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	20176808, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint	IBA	21873635
GO:0007094	Process	Mitotic spindle assembly checkpoint	ISS
GO:0007140	Process	Male meiotic nuclear division	IBA	21873635
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IBA	21873635
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	ISS
GO:0019901	Function	Protein kinase binding	IPI	22405274
GO:0030496	Component	Midbody	IBA	21873635
GO:0030496	Component	Midbody	ISS
GO:0032091	Process	Negative regulation of protein binding	IEA
GO:0032466	Process	Negative regulation of cytokinesis	IEA
GO:0043063	Process	Intercellular bridge organization	IBA	21873635
GO:0043063	Process	Intercellular bridge organization	ISS
GO:0045171	Component	Intercellular bridge	IBA	21873635
GO:0045171	Component	Intercellular bridge	ISS
GO:0051301	Process	Cell division	IEA
GO:0051306	Process	Mitotic sister chromatid separation	IBA	21873635
GO:0051306	Process	Mitotic sister chromatid separation	ISS
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 605792
• HGNC: 11737
• e!Ensembl: ENSG00000121101

Protein

• UniProt ID: Q8IWB6
• Protein name: Inactive serine/threonine-protein kinase TEX14 (Protein kinase-like protein SgK307) (Sugen kinase 307) (Testis-expressed sequence 14) (Testis-expressed sequence 14 protein)
• Protein function: Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are requ
• PDB: 3WUT, 3WUU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	27 → 119	Ankyrin repeats (3 copies)	Repeat
  PF07714	PK_Tyr_Ser-Thr	263 → 509	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MSRAVRLPVPCPVQLGTLRNDSLEAQLHEYVKQGNYVKVKKILKKGIYVDAVNSLGQTAL
  FVAALLGLRKFVDVLVDYGSDPNHRCFDGSTPVHAAAFSGNQWILSKLLDAGGDLRLHDE
  RGQNPKTWALTAGKERSTQIVEFMQRCASHMQAIIQGFSYDLLKKIDSPQRLVYSPSWCG
  GLVQGNPNGSPNRLLKAGVISAQNIYSFGFGKAMPWFQFYLTGATQMAYLGSLPVIGEKE
  VIQADDEPTFSFFSGPYMVMTNLVWNGSRVTVKELNLPTHPHCSRLRLADLLIAEQEHSS
  KLRHPYLLQLMAVCLSQDLEKTRLVYERITIGTLFSVLHERRSQFPVLHMEVIVHLLLQI
  SDALRYLHFQGFIHRSLSSYAVHIISPGEARLTNLEYMLESEDRGVQRDLTRVPLPTQLY
  NWAAPEVILQKAATVKSDIYSFSMIMQEILTDDIPWKGLDGSVVKKAVVSGNYLEADVRL
  PKPYYDIVKSGIHVKQKDRTMNLQDIRYILKNDLKDFTGAQRTQPTESPRVQRYGLHPDV
  NVYLGLTSEHPRETPDMEIIELKEMGSQPHSPRVHSLFTEGTLDPQAPDPCLMARETQNQ
  DAPCPAPFMAEEASSPSTGQPSLCSFEINEIYSGCLILEDDIEEPPGAASSLEADGPNQV
  DELKSMEEELDKMEREACCFGSEDESSSKAETEYSFDDWDWQNGSLSSLSLPESTREAKS
  NLNNMSTTEEYLISKCVLDLKIMQTIMHENDDRLRNIEQILDEVEMKQKEQEERMSLWAT
  SREFTNAYKLPLAVGPPSLNYIPPVLQLSGGQKPDTSGNYPTLPRFPRMLPTLCDPGKQN
  TDEQFQCTQGAKDSLETSRIQNTSSQGRPRESTAQAKATQFNSALFTLSSHRQGPSASPS
  CHWDSTRMSVEPVSSEIYNAESRNKDDGKVHLKWKMEVKEMAKKAATGQLTVPPWHPQSS
  LTLESEAENEPDALLQPPIRSPENTDWQRVIEYHRENDEPRGNGKFDKTGNNDCDSDQHG
  RQPRLGSFTSIRHPSPRQKEQPEHSEAFQASSDTLVAVEKSYSHQSMQSTCSPESSEDIT
  DEFLTPDGEYFYSSTAQENLALETSSPIEEDFEGIQGAFAQPQVSGEEKFQMRKILGKNA
  EILPRSQFQPVRSTEDEQEETSKESPKELKEKDISLTDIQDLSSISYEPDSSFKEASCKT
  PKINHAPTSVSTPLSPGSVSSAASQYKDCLESITFQVKTEFASCWNSQEFIQTLSDDFIS
  VRERAKKLDSLLTSSETPPSRLTGLKRLSSFIGAGSPSLVKACDSSPPHATQRRSLPKVE
  AFSQHHIDELPPPSQELLDDIELLKQQQGSSTVLHENTASDGGGTANDQRHLEEQETDSK
  KEDSSMLLSKETEDLGEDTERAHSTLDEDLERWLQPPEESVELQDLPKGSERETNIKDQK
  VGEEKRKREDSITPERRKSEGVLGTSEEDELKSCFWKRLGWSESSRIIVLDQSDLSD

• Sequence length: 1497

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30054458
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Male infertility	Male infertility with azoospermia or oligozoospermia due to single gene mutation	rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Obstructive azoospermia	Obstructive azoospermia	rs121909016, rs121908805, rs144055758, rs397508761
Spermatogenic failure	SPERMATOGENIC FAILURE 23	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs121918346, rs778145751, rs387906690, rs201095702, rs371195126, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs587777427, rs587777432, rs864309485, rs797045116, rs774225566, rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025, rs757326350, rs1131692234, rs1131692250, rs1131692251, rs779490893, rs373911488, rs768831533, rs1131692266, rs376788209, rs780798708, rs1555568575, rs1555472691, rs368728266, rs746049858, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824, rs1554359685, rs1554359569, rs1554492164, rs1554491783, rs763654373, rs1553482689, rs116298211, rs766707325, rs144567652, rs768006618, rs1555365959, rs1555363275, rs577163578, rs765353898, rs777263062, rs140352254, rs1567621034, rs759646845, rs376903331, rs1559024613, rs1559034750, rs773975635, rs1559025141, rs1161498711, rs751680143, rs1567790522, rs777214459, rs772371753, rs759127010, rs764048407, rs1355278372, rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487, rs761592042, rs759727960, rs1031011371, rs1598595659, rs767723684, rs1598525781, rs1269179049, rs756973049, rs1574628422, rs1457312523, rs1589391313, rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268, rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760, rs769554360, rs147597066, rs753831132, rs377712900, rs1677697539, rs2083311058

Unknown
Disease name	Disease term	dbSNP ID	References
Testicular germ cell tumor	Testicular Germ Cell Tumor		23666239