CCDC78 (coiled-coil domain containing 78)

Gene

• Entrez ID: 124093
• Gene name: Coiled-coil domain containing 78
• Gene symbol: CCDC78
• Synonyms (NCBI Gene): C16orf25, CNM4, JFP10, hsCCDC78
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148595483	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, synonymous variant, non coding transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs200865845	G>A	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT869851	hsa-miR-1202	CLIP-seq
MIRT869852	hsa-miR-3130-3p	CLIP-seq
MIRT869853	hsa-miR-3180-5p	CLIP-seq
MIRT869854	hsa-miR-3194-5p	CLIP-seq
MIRT869855	hsa-miR-331-3p	CLIP-seq
MIRT869856	hsa-miR-3943	CLIP-seq
MIRT869857	hsa-miR-3972	CLIP-seq
MIRT869858	hsa-miR-4286	CLIP-seq
MIRT869859	hsa-miR-4685-5p	CLIP-seq
MIRT869860	hsa-miR-4722-3p	CLIP-seq
MIRT869861	hsa-miR-615-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IMP	22818856
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IDA	24075808
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IDA	22818856
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0042383	Component	Sarcolemma	IDA	22818856
GO:0042383	Component	Sarcolemma	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	22818856
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0098535	Process	De novo centriole assembly involved in multi-ciliated epithelial cell differentiation	IDA	24075808
GO:0098536	Component	Deuterosome	IDA	24075808

Other IDs

• MIM: 614666
• HGNC: 14153
• e!Ensembl: ENSG00000162004

Protein

• UniProt ID: A2IDD5
• Protein name: Coiled-coil domain-containing protein 78 (hsCCDC78)
• Protein function: Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multicili
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14739	DUF4472	54 → 165	Domain of unknown function (DUF4472)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in skeletal muscle. {ECO:0000269|PubMed:22818856}.
• Sequence:

  MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQ
  ISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPR
  HPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQ
  QALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
  DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYH
  KRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLS
  SPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNF
  LSYRSTWTSTWAGTSTKS

• Sequence length: 438

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs62032517	RCV005924980
Adrenocortical carcinoma, hereditary	Benign	rs62032517	RCV005924981
CCDC78-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs766296563, rs752209523, rs138669350, rs2543994660, rs2040323309, rs776425669, rs79863898, rs145274257, rs1006891646, rs760280521, rs146067716, rs61998220, rs151206197, rs142170929, rs746756519, rs140761899, rs373278585, rs562625664, rs199497862, rs371386354	RCV003953942 RCV003936508 RCV003955415 RCV003400390 RCV003400144 RCV003979205 RCV003935361 RCV003915450 RCV003398578 RCV003945300 RCV003980006 RCV004745476 RCV003905760 RCV003945651 RCV003420257 RCV003945717 RCV003955511 RCV003938389 RCV004746116 RCV003943302
Centronuclear myopathy	Conflicting classifications of pathogenicity	rs751262117, rs200825023, rs142133229	RCV005356203 RCV005357605 RCV005367625
Cervical cancer	Benign; Likely benign	rs78103693, rs138669350	RCV005927856 RCV005895428
Cholangiocarcinoma	Benign	rs62032517	RCV005924984
Clear cell carcinoma of kidney	Benign; Likely benign	rs138669350	RCV005895429
Colon adenocarcinoma	Benign; Likely benign	rs138669350	RCV005895425
Congenital myopathy with internal nuclei and atypical cores	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs780209156, rs750889592, rs1406110108, rs749095737, rs2040740740, rs766553371, rs1432188387, rs1320283995, rs1482540009, rs775067488, rs2040615574, rs1438721597, rs144640928, rs749051279, rs1483977509, rs768794447, rs951170993, rs2151553309, rs1338935088, rs375138705, rs763959604, rs1035417733, rs777794522, rs1246634377, rs750616701, rs1180264424, rs117949611, rs563037365, rs2151551775, rs1158312264, rs528171965, rs1196046646, rs141141442, rs1211222717, rs376412009, rs1192759468, rs949623191, rs758288338, rs773923207, rs2040380247, rs1455517817, rs561702421, rs201042133, rs747763912, rs778705590, rs1455612703, rs1227878128, rs1355024482, rs1233846202, rs907003896, rs755948173, rs12599130, rs35843452, rs548208034, rs780967551, rs2040704923, rs892740041, rs369344548, rs8055909, rs142136104, rs2071950, rs77707419, rs61998209, rs148595483, rs747939934, rs747752625, rs776512977, rs1289274795, rs2151561882, rs1389255956, rs966308561, rs777956994, rs2151579428, rs1014643433, rs370899425, rs1180613590, rs1046402338, rs763586611, rs2151560388, rs767496331, rs761180576, rs144406163, rs371931071, rs2151564305, rs2040614811, rs751070375, rs893572894, rs781457535, rs2040612115, rs1021626011, rs147504073, rs751889492, rs750273057, rs1392358219, rs748438652, rs2040706093, rs1361254201, rs756781117, rs1555486210, rs1000549010, rs767319981, rs749614530, rs778741526, rs1418782154, rs773837439, rs779855089, rs768740042, rs754906673, rs2040580658, rs1203607617, rs767325446, rs759037918, rs767068294, rs770130604, rs1403494570, rs1688583528, rs1475409165, rs1395442564, rs371921917, rs893873268, rs758119082, rs1020697264, rs941301878, rs374903815, rs575159946, rs745530216, rs753155679, rs775362271, rs760813011, rs1396117099, rs776154471, rs78103693, rs1319236751, rs766085711, rs2151539558, rs1320389377, rs1391537464, rs2151537413, rs2040379831, rs140303460, rs1814238789, rs2151566358, rs747340016, rs374237828, rs1294551214, rs746844399, rs752406944, rs2151572538, rs1473631191, rs200002179, rs2151563812, rs746959349, rs1012692311, rs375444284, rs769940521, rs751454157, rs748680465, rs958395578, rs368223759, rs1312612578, rs12446058, rs750092405, rs1190142185, rs769964986, rs199988256, rs371958189, rs371640942, rs368628654, rs2151562636, rs894597785, rs375625161, rs906009986, rs1366295901, rs746266109, rs752141177, rs2151554557, rs753929100, rs372703744, rs774507863, rs2544000353, rs2543941341, rs2543989593, rs2040800013, rs920615844, rs1460693000, rs368670326, rs767849635, rs757368119, rs768495466, rs757981168, rs1232794676, rs781465668, rs375089115, rs2040385803, rs775569629, rs778504860, rs372671943, rs2544033129, rs766296563, rs769294244, rs1472515463, rs1353119618, rs2040642025, rs576534778, rs753521458, rs2544019597, rs763047897, rs369915510, rs145274257, rs1283771246, rs2543940100, rs1160618314, rs540376434, rs2543991980, rs1367009381, rs1447437433, rs749463945, rs1038375420, rs2543943975, rs745452287, rs2544059762, rs760048138, rs2544097380, rs368147684, rs2544013138, rs761306741, rs2544023341, rs2543998634, rs775011018, rs2544014243, rs751262117, rs2040630443, rs2544094070, rs752010401, rs1312171141, rs2040681213, rs1402105399, rs756036249, rs1315306679, rs765383192, rs1485479496, rs929618078, rs200893683, rs1229538224, rs868059787, rs532009000, rs199858384, rs776425669, rs759890639, rs2544054444, rs2543994055, rs765910412, rs138603318, rs540636951, rs752209523, rs2151558333, rs2543990378, rs527479144, rs767433826, rs959368886, rs199505710, rs374450678, rs4984921, rs200531006, rs200747487, rs12448311, rs373524109, rs12448312, rs138669350, rs191749939, rs1242459869, rs2040591165, rs776048823, rs2040323309, rs953639339, rs369153172, rs1165194214, rs2543933904, rs372605148, rs746753842, rs776636446, rs761094524, rs758399024, rs764179609, rs1160424827, rs1037367865, rs771813886, rs2040886987, rs755323760, rs757052847, rs2543992449, rs746377545, rs752590087, rs556100122, rs746174565, rs766842372, rs761119447, rs2544000959, rs2544005518, rs2151547880, rs2040372836, rs748114954, rs2040854837, rs775953299, rs56119795, rs2151566978, rs373278585, rs775934060, rs1216907943, rs2544031616, rs750365313, rs1454050882, rs1340557988, rs200446394, rs1391641251, rs2040817293, rs987374804, rs748887262, rs138151643, rs903501689, rs1311813877, rs768081009, rs150304459, rs746845893, rs137980462, rs758861885, rs779539462, rs1156280950, rs775450233, rs2040353234, rs964185752, rs754521089, rs1462660693, rs1239432508, rs201824741, rs1265035981, rs770164131, rs1338425673, rs749827376, rs765483630, rs1064794620, rs369081589, rs752077571, rs73489339, rs148276717, rs780197880, rs79863898, rs929692414, rs1006891646, rs201006875, rs760280521, rs771507948, rs145971446, rs200154277, rs144396385, rs201924732, rs745392382, rs146067716, rs140104512, rs369908634, rs61998220, rs147606575, rs150363147, rs753039480, rs200825023, rs370998388, rs750379614, rs371542042, rs1014754418, rs778696812, rs887921636, rs199893871, rs144643237, rs374749282, rs1374510953, rs560987339, rs151206197, rs765250833, rs186738044, rs142129985, rs142170929, rs142353908, rs749951287, rs375016420, rs181469519, rs142180051, rs1045075829, rs1567315670, rs771582682, rs764422260, rs371030168, rs143439721, rs1352546137, rs746792512, rs376513788, rs1037631909, rs762337009, rs374382609, rs1477528084, rs772096201, rs746756519, rs763349441, rs1031306587, rs148705181, rs140761899, rs1567323012, rs773310049, rs151049173, rs371760552, rs540243094, rs1328091861, rs759028646, rs1466789176, rs745710346, rs558878970, rs201503907, rs1248260858, rs374105211, rs1283039950, rs559942514, rs376047604, rs139766874, rs562625664, rs765213341, rs765738306, rs199497862, rs763378541, rs764805299, rs200859995, rs558680404, rs767497873, rs142133229, rs558615304, rs530313895, rs199585619, rs1596618143, rs1596618345, rs200865845, rs1296158476, rs371386354, rs199867890, rs2040614414, rs201634385, rs147899031, rs1246932109, rs1432121366, rs2040893951, rs2040894714, rs778608633, rs2040592043, rs2040592459, rs768251031, rs766279961, rs549450998, rs2040895994, rs754019798, rs145112523, rs2040863479, rs1450643801, rs1042253618, rs2040942356, rs764699064, rs2040618422, rs1160240030, rs1374522692, rs144624081, rs757617074	RCV001315056 RCV001327839 RCV001325691 RCV001327685 RCV001315414 RCV001316351 RCV001325211 RCV001335566 RCV001337643 RCV001349264 RCV001338793 RCV001348256 RCV001338305 RCV001349093 RCV001340817 RCV001372861 RCV001371451 RCV001367866 RCV001360747 RCV001366049 RCV001359517 RCV001366213 RCV001367726 RCV001363593 RCV001372489 RCV001371687 RCV001359920 RCV001398827 RCV001401064 RCV001399259 RCV001398505 RCV001418502 RCV001432701 RCV001426132 RCV001421576 RCV001434818 RCV001433786 RCV001454335 RCV001475023 RCV001471374 RCV001470689 RCV001455347 RCV001462694 RCV001477325 RCV001460367 RCV001452589 RCV001461013 RCV001472784 RCV001496902 RCV001480309 RCV001482110 RCV001502488 RCV001544413 RCV001544414 RCV001544415 RCV002074034 RCV002028666 RCV001943877 RCV001939900 RCV000547601 RCV000524601 RCV001516757 RCV000532147 RCV000546668 RCV001082148 RCV001902737 RCV002013528 RCV001893437 RCV001986571 RCV002019231 RCV001881344 RCV001991643 RCV001902849 RCV002034373 RCV001904477 RCV001953353 RCV001917491 RCV001950671 RCV001987511 RCV002002777 RCV001953898 RCV001889800 RCV002005007 RCV001947140 RCV002044540 RCV001914694 RCV001911147 RCV001929197 RCV002027451 RCV001886439 RCV001901239 RCV001990834 RCV001893529 RCV001866495 RCV001971713 RCV001971775 RCV002013916 RCV001880391 RCV001895716 RCV002032983 RCV001913328 RCV002005634 RCV002030153 RCV002036483 RCV001888927 RCV002026315 RCV002051304 RCV001890070 RCV001925411 RCV001930672 RCV002051003 RCV002049418 RCV001907079 RCV001992613 RCV002042129 RCV002017116 RCV001896225 RCV001914201 RCV002011839 RCV002021036 RCV002021056 RCV001986215 RCV001922247 RCV002011064 RCV002078310 RCV002101773 RCV002202256 RCV002116675 RCV002153916 RCV002150471 RCV002163306 RCV002159970 RCV002095546 RCV002108879 RCV002115708 RCV002169790 RCV002156606 RCV002098809 RCV002206826 RCV002096592 RCV002174700 RCV002169077 RCV002200181 RCV002091125 RCV002115335 RCV002186216 RCV002183735 RCV002183787 RCV002209137 RCV002079147 RCV002076254 RCV002099399 RCV002145399 RCV002214848 RCV002100408 RCV002188133 RCV002118711 RCV002136642 RCV002113490 RCV002099691 RCV002130351 RCV002178918 RCV002161392 RCV002086647 RCV002076935 RCV002127925 RCV002159640 RCV002186481 RCV002205901 RCV002108665 RCV002191838 RCV002194185 RCV002120651 RCV002144836 RCV002177790 RCV002185858 RCV002216229 RCV002142263 RCV002114428 RCV002072823 RCV002212578 RCV002184259 RCV002126778 RCV002139607 RCV002281667 RCV002299096 RCV002299877 RCV003063010 RCV003058370 RCV003061175 RCV003075638 RCV003091055 RCV003071916 RCV003078183 RCV002581896 RCV003084691 RCV003100526 RCV002632181 RCV002620526 RCV002616519 RCV002615151 RCV002603632 RCV002637232 RCV002637561 RCV002664061 RCV002623856 RCV002629267 RCV002644541 RCV003109070 RCV002587298 RCV002590073 RCV002604242 RCV002608509 RCV002597170 RCV002618782 RCV002626871 RCV002653533 RCV002675671 RCV002726168 RCV002705878 RCV002696206 RCV002685946 RCV002671864 RCV002690921 RCV002735279 RCV002735522 RCV002746062 RCV002800282 RCV002776368 RCV002770545 RCV002756135 RCV002791354 RCV002810223 RCV002833237 RCV002861362 RCV002835153 RCV002851308 RCV002861704 RCV002847804 RCV002866660 RCV002851976 RCV002866311 RCV002889639 RCV002908646 RCV002913841 RCV002885732 RCV002895298 RCV002886369 RCV002909203 RCV002914348 RCV002922587 RCV002933467 RCV002942309 RCV002922206 RCV002915037 RCV002921888 RCV002929100 RCV002958630 RCV002963188 RCV002958176 RCV002944004 RCV002970658 RCV003017896 RCV002995877 RCV002976690 RCV003015455 RCV003006061 RCV003026556 RCV003032301 RCV003052538 RCV003777940 RCV003144701 RCV003144702 RCV003144704 RCV000528329 RCV001393570 RCV001544416 RCV002057420 RCV000650521 RCV002057419 RCV002057418 RCV002057416 RCV002057417 RCV001087728 RCV003444382 RCV003647969 RCV005061325 RCV005631149 RCV005104366 RCV005100032 RCV003533903 RCV003533888 RCV003534184 RCV003534093 RCV003534162 RCV003534110 RCV003534136 RCV003534035 RCV003534132 RCV003534200 RCV003531479 RCV003531512 RCV003534247 RCV003534283 RCV003531503 RCV003531433 RCV003531711 RCV003531576 RCV003531633 RCV003531725 RCV003531726 RCV003531593 RCV003531680 RCV003531860 RCV003531731 RCV003532446 RCV003532530 RCV003532464 RCV003532460 RCV003532483 RCV003532474 RCV003648151 RCV003647288 RCV003647549 RCV003647553 RCV003647583 RCV003647674 RCV003647720 RCV003647682 RCV003647604 RCV003647725 RCV003648426 RCV003648421 RCV003648505 RCV003648626 RCV003648744 RCV003648777 RCV003648800 RCV003648959 RCV003648970 RCV003648890 RCV003648980 RCV003648996 RCV003649046 RCV003649102 RCV003649063 RCV003815833 RCV003828726 RCV003822073 RCV003839399 RCV003832245 RCV003832251 RCV003842122 RCV003866286 RCV003874321 RCV003871026 RCV003879526 RCV003882667 RCV005103070 RCV001352422 RCV001039806 RCV002525846 RCV001851289 RCV000540447 RCV000525943 RCV000553200 RCV000650520 RCV000650516 RCV000556794 RCV000559318 RCV000810312 RCV000030738 RCV000552979 RCV000546211 RCV000538424 RCV000554592 RCV000546865 RCV000537404 RCV000544640 RCV000534408 RCV000531451 RCV000539840 RCV000550251 RCV000557026 RCV000555177 RCV000531252 RCV000539087 RCV000540665 RCV000548973 RCV000537626 RCV000560662 RCV000545983 RCV000528538 RCV000531922 RCV000553817 RCV000550838 RCV000819152 RCV000650523 RCV000650514 RCV000650518 RCV000650524 RCV000650510 RCV000650511 RCV000650512 RCV001402783 RCV000650515 RCV000650526 RCV000650525 RCV000650513 RCV000650527 RCV000650522 RCV000650517 RCV000685832 RCV000693303 RCV000707602 RCV000698790 RCV000694693 RCV000689727 RCV000698737 RCV000706133 RCV000697866 RCV000704328 RCV000687540 RCV000703586 RCV000687527 RCV001236471 RCV000688262 RCV000692451 RCV000705672 RCV000705959 RCV000688442 RCV000704367 RCV000691241 RCV000697879 RCV000699489 RCV000695091 RCV000784919 RCV000802178 RCV000812632 RCV000808315 RCV000806322 RCV000807288 RCV000818845 RCV000797191 RCV000823711 RCV000801250 RCV000797788 RCV000793888 RCV000813173 RCV000820853 RCV000819542 RCV000808667 RCV000801135 RCV000823046 RCV000872428 RCV000873902 RCV000876910 RCV000878237 RCV001472332 RCV000877408 RCV002064814 RCV000873697 RCV000954567 RCV001459063 RCV001464412 RCV001399260 RCV001455141 RCV001429192 RCV000914903 RCV001447090 RCV001489718 RCV000935467 RCV001414521 RCV000982324 RCV000985186 RCV001213564 RCV001052282 RCV001053277 RCV001048191 RCV001035086 RCV001038657 RCV001041507 RCV001058477 RCV001035560 RCV001045260 RCV001053196 RCV001061852 RCV001224264 RCV001217799 RCV001220662 RCV001219049 RCV001220181 RCV001217433 RCV001216846 RCV001215189 RCV001220939 RCV001222672 RCV001205134 RCV001208077 RCV001211433 RCV001225859 RCV001232820 RCV001241686 RCV001247026 RCV001243274 RCV001299393 RCV001297422 RCV001301168 RCV001294904 RCV001308353 RCV001298343 RCV001309624
Familial cancer of breast	Benign; Likely benign	rs138669350	RCV005895424
Gastric cancer	Benign; Likely benign	rs138669350	RCV005895430
Lung cancer	Benign; Likely benign	rs138669350, rs201006875	RCV005895433 RCV005896935
Malignant tumor of urinary bladder	Benign; Likely benign	rs138669350	RCV005895426
Melanoma	Benign; Likely benign	rs138669350	RCV005895432
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs138669350, rs73489339	RCV005895427 RCV005899838
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs62032517, rs201006875	RCV005924982 RCV005896934
Sarcoma	Benign	rs78103693	RCV005927857
Thymoma	Benign; Likely benign	rs62032517, rs73489339	RCV005924983 RCV005899839
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs138669350	RCV005895431

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Associate	31612869
Myopathies Structural Congenital	Associate	39273074
Neoplastic Syndromes Hereditary	Associate	39273074