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CCDC28B (coiled-coil domain containing 28B)
Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79140
Gene nameGene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 28B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CCDC28B
SynonymsGene synonyms aliases
LTAP2B
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.2
SummarySummary of gene provided in NCBI Entrez Gene.
The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT2194840 hsa-miR-299-5p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16327777, 25416956
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA 21873635
GO:0005813 Component Centrosome IDA 16327777
GO:0060271 Process Cilium assembly IMP 23015189
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BUN5
Protein name Coiled-coil domain-containing protein 28B
Protein function Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate ass
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13270 DUF4061
86 → 184
Domain of unknown function (DUF4061)
 Family
Sequence 
MDDKKKKRSPKPCLAQPAQAPGTLRRVPVPTSHSGSLALGLPHLPSPKQRAKFKRVGKEK
CRPVLAGGGSGSAGTPLQHSFLTEVTDVYEMEGGLLNLLNDFHSGRLQAFGKECSFEQLE
HVREMQEKLARLHFSLDVCGEEEDDEEEEDGVTEGLPEEQKKTMADRNLDQLLSNLEDLS
NSIQKLHLAENAEPEEQSAA
Sequence length 200
Interactions View interactions
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Bardet-biedl syndrome Bardet-Biedl syndrome 1 (disorder) rs397704728, rs267606692, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059, rs587777804, rs104893678, rs104893679, rs104893680, rs104893681, rs587777806, rs587777807, rs119103286, rs587777808, rs201938124, rs137852856, rs587777810, rs137852857, rs137852858, rs587777811, rs606231137, rs119466001, rs119466002, rs587777812, rs587777824, rs121908174, rs121908175, rs121908176, rs121908177, rs121908178, rs121908179, rs138043021, rs587777825, rs587777826, rs121908180, rs121908181, rs281797258, rs74315396, rs74315397, rs587777827, rs74315399, rs137853154, rs281797259, rs137853156, rs587777828, rs1574339529, rs767221160, rs121908581, rs121908582, rs111033570, rs111033571, rs1588218453, rs121434632, rs113994189, rs113994192, rs28938468, rs113624356, rs121917777, rs587777829, rs587777830, rs113994195, rs113994196, rs113994178, rs113994190, rs113994191, rs137854887, rs587777836, rs587777837, rs148374859, rs387907136, rs193922710, rs193922711, rs431825171, rs386834044, rs386834046, rs386834047, rs386834050, rs201933838, rs386834051, rs386834149, rs386834152, rs386834153, rs62640570, rs386834159, rs199474722, rs137854907, rs151344630, rs179363897, rs62640580, rs62640582, rs62640574, rs62638179, rs281865187, rs281865188, rs62640578, rs515726134, rs515726135, rs515726136, rs587777546, rs587783009, rs587783010, rs587783016, rs587777846, rs587777847, rs672601379, rs727503781, rs727503818, rs727503853, rs786204444, rs786204701, rs768443448, rs770556842, rs786204705, rs786204575, rs786204573, rs786204671, rs756368560, rs749974697, rs786205636, rs786205855, rs370540673, rs794727006, rs797044632, rs794727070, rs766608755, rs370119681, rs758329611, rs770258677, rs376306240, rs797045946, rs797045948, rs797045706, rs863224529, rs863224530, rs762511626, rs863224534, rs863224782, rs761101213, rs863224522, rs869025207, rs869025208, rs869025204, rs869025205, rs869025209, rs869025211, rs869025210, rs869025206, rs863225187, rs771454167, rs575767207, rs756302731, rs780624853, rs863225182, rs863225189, rs863225183, rs727503855, rs863225186, rs758550675, rs768933093, rs756853299, rs878853352, rs371496675, rs878853360, rs377031435, rs878855095, rs200699377, rs746797123, rs886039875, rs751375244, rs775081992, rs886039799, rs886039801, rs886039798, rs758522600, rs886039805, rs886039802, rs886039800, rs886039797, rs780225183, rs886041464, rs760165634, rs886042359, rs886042360, rs886042729, rs201196733, rs773139166, rs886043841, rs886044106, rs886044668, rs770218590, rs752202089, rs1057515576, rs1057517193, rs764245266, rs1057516449, rs1057516507, rs1057517007, rs1057516451, rs376894444, rs1057516933, rs1057516502, rs1057516330, rs1057517332, rs1057516427, rs1057517143, rs746875134, rs1057516661, rs1057516371, rs1057516533, rs1057516901, rs775769424, rs773632109, rs1057516628, rs1057516754, rs375413604, rs1057516669, rs1057517031, rs773864735, rs759682922, rs1057517156, rs1057517206, rs1057516623, rs765561672, rs1057516998, rs1057516836, rs1057517184, rs1057516266, rs1057516753, rs774095109, rs1057516240, rs1057516701, rs1057516861, rs147030232, rs865870355, rs775043799, rs757641323, rs773386777, rs1057518822, rs1057519165, rs1057519027, rs775710800, rs1060499781, rs137962929, rs1060503690, rs1166022838, rs775950661, rs1060500996, rs367882912, rs1060503692, rs749017489, rs766087213, rs1064796315, rs1555202695, rs763762899, rs777464278, rs1555220638, rs1553794304, rs1578522416, rs780059308, rs1555202801, rs1553529427, rs1473611414, rs1553941312, rs752762669, rs898539189, rs1555202645, rs762668200, rs756632517, rs965522059, rs1555049194, rs1302879683, rs1555212271, rs1555220625, rs200818935, rs1553930514, rs1381368546, rs747388658, rs759376012, rs766670248, rs1555534964, rs1555202697, rs1286714661, rs1272411609, rs1555202584, rs567573386, rs1452465499, rs747685252, rs1555523398, rs1555213204, rs1555202538, rs1555197766, rs1555202806, rs1555801973, rs1460517643, rs1555047786, rs1555802009, rs1221499782, rs771266705, rs781174906, rs1170451277, rs1555225566, rs772757329, rs1553933472, rs991365297, rs1269565757, rs1555047409, rs200116631, rs776645403, rs757609119, rs770891152, rs751361090, rs753338844, rs1397714772, rs769588983, rs1553941255, rs1553941258, rs1553941279, rs1553941369, rs1195341481, rs1284876635, rs1553941540, rs1444062882, rs756061536, rs1173504533, rs1553941391, rs766741204, rs1553941433, rs745448288, rs770872200, rs1553941304, rs1553941404, rs1553941580, rs751753112, rs1555046748, rs771517209, rs748523268, rs1555050394, rs1014835928, rs1555049933, rs1182864166, rs1313590454, rs1555046611, rs1555049893, rs1555050268, rs1555050404, rs1555202546, rs1555202562, rs769028262, rs1389599028, rs1555202654, rs1555202731, rs1306821707, rs1353098253, rs183771956, rs1555202572, rs1555202583, rs759185809, rs1555202614, rs1555202636, rs758732081, rs1555202740, rs1310735399, rs1555202599, rs1555202642, rs1555202681, rs1278460471, rs1555202607, rs760642305, rs753604828, rs1555202656, rs1555202657, rs1156913215, rs574032499, rs1555202698, rs1555202737, rs760693838, rs202228478, rs1555520256, rs1555521379, rs777234811, rs1555522893, rs1273181642, rs1367927635, rs1555524593, rs1166717771, rs745951028, rs201063733, rs778090540, rs1555522000, rs544773389, rs773862084, rs1555520142, rs1555520220, rs762047808, rs1555521501, rs1555522252, rs764164384, rs1047075022, rs779690256, rs773417074, rs1555523964, rs750506474, rs1488635637, rs1555599412, rs1555521489, rs878962682, rs746171104, rs1555523584, rs375170572, rs1477098739, rs1559122157, rs1565289799, rs1565809409, rs1054138918, rs1466289570, rs1800908907, rs746478265, rs1563049863, rs1560638613, rs1564218190, rs1565809597, rs772170760, rs1565809867, rs750258633, rs1272140892, rs1559121920, rs1339432710, rs138011813, rs1562686929, rs1562917450, rs1565287512, rs1160669210, rs1486200900, rs1565291081, rs1340165752, rs1565809995, rs781421232, rs1565810301, rs1465437164, rs1567412639, rs1567427651, rs767373822, rs1568662687, rs1306231185, rs1568666460, rs780659194, rs1569077441, rs753884599, rs1559126736, rs1226386838, rs1472488128, rs1565835538, rs1565286223, rs763299856, rs1565286202, rs1390963789, rs1560658189, rs772917364, rs1565287921, rs1565809478, rs1567576202, rs1578489760, rs1470030897, rs1229015450, rs767481770, rs1356713858, rs1368647604, rs770084716, rs1559122277, rs561598805, rs1592726020, rs776004321, rs762276925, rs777420525, rs1578491070, rs1578491135, rs745656125, rs1294402003, rs587783017, rs778030031, rs754728136, rs749331348, rs1339975972, rs1468942944, rs760415289, rs1290241933, rs372822977, rs1597016660, rs1578537379, rs1587357327, rs751922029, rs775928735, rs768385647, rs1326810030, rs200113494, rs747266069, rs1490351829, rs1590772920, rs1592491950, rs1039146791, rs1597012997, rs1578577361, rs375548374, rs763473957, rs767822498, rs1578564877, rs1590762360, rs1592784618, rs1595935759, rs2037751886, rs1856758582, rs1951757988, rs1951767864, rs2065331681, rs1592492255, rs45502896, rs745497072, rs1221464366, rs773622064, rs2037752645, rs1354476372, rs772544112, rs1683644662, rs1394015094, rs767005321, rs398124253, rs35904234, rs778850233, rs138744839, rs778431173, rs1951758601, rs1951767589, rs553291328, rs2033254449, rs781310385, rs1364945778, rs761907569, rs1033594764, rs1186821575, rs1199538371, rs1363846772, rs777218224, rs903778224, rs1726566546, rs2039659434, rs761969357, rs1419924139, rs1363498219, rs762782183, rs974173261, rs1560708847, rs1856790811, rs2033937635, rs748471942, rs762633090, rs774490795, rs2065896039, rs759131391, rs1560664459, rs1856202628, rs1856699646, rs752197734, rs1295000119, rs2034232539, rs750073051, rs763559949 23015189
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Unknown
Disease name Disease term dbSNP ID References
Astigmatism Astigmatism
Atresia of vagina Atresia of vagina
Ciliopathies Ciliopathies 23015189
High palate Byzanthine arch palate

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