UNC45B (unc-45 myosin chaperone B)

Gene

• Entrez ID: 146862
• Gene name: Unc-45 myosin chaperone B
• Gene symbol: UNC45B
• Synonyms (NCBI Gene): CMYA4, CTRCT43, MFM11, SMUNC45, UNC-45B, UNC45
• Disease Acronyms (UniProt): CTRCT43, MFM11
• Chromosome: 17
• Chromosome location: 17q12
• Summary: This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs370424081	C>G,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042862	hsa-miR-324-3p	CLASH	23622248
MIRT621613	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT621614	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT621612	hsa-miR-5695	HITS-CLIP	23824327
MIRT621611	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT621610	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT621609	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621608	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT621607	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT621613	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT621614	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT621612	hsa-miR-5695	HITS-CLIP	23824327
MIRT621611	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT621610	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT621609	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621608	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT621607	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1475370	hsa-miR-122	CLIP-seq
MIRT1475371	hsa-miR-1243	CLIP-seq
MIRT1475372	hsa-miR-1302	CLIP-seq
MIRT1475373	hsa-miR-29a	CLIP-seq
MIRT1475374	hsa-miR-29b	CLIP-seq
MIRT1475375	hsa-miR-29c	CLIP-seq
MIRT1475376	hsa-miR-3074-5p	CLIP-seq
MIRT1475377	hsa-miR-3122	CLIP-seq
MIRT1475378	hsa-miR-3654	CLIP-seq
MIRT1475379	hsa-miR-370	CLIP-seq
MIRT1475380	hsa-miR-3913-5p	CLIP-seq
MIRT1475381	hsa-miR-3942-3p	CLIP-seq
MIRT1475382	hsa-miR-4298	CLIP-seq
MIRT1475383	hsa-miR-4645-3p	CLIP-seq
MIRT1475384	hsa-miR-494	CLIP-seq
MIRT1475385	hsa-miR-542-3p	CLIP-seq
MIRT1475386	hsa-miR-10a	CLIP-seq
MIRT1475387	hsa-miR-10b	CLIP-seq
MIRT1475388	hsa-miR-1285	CLIP-seq
MIRT1475389	hsa-miR-1915	CLIP-seq
MIRT1475376	hsa-miR-3074-5p	CLIP-seq
MIRT1475390	hsa-miR-3124-3p	CLIP-seq
MIRT1475391	hsa-miR-3144-5p	CLIP-seq
MIRT1475392	hsa-miR-3150a-3p	CLIP-seq
MIRT1475393	hsa-miR-3174	CLIP-seq
MIRT1475394	hsa-miR-3175	CLIP-seq
MIRT1475395	hsa-miR-3187-5p	CLIP-seq
MIRT1475396	hsa-miR-3191	CLIP-seq
MIRT1475397	hsa-miR-3675-5p	CLIP-seq
MIRT1475379	hsa-miR-370	CLIP-seq
MIRT1475398	hsa-miR-409-3p	CLIP-seq
MIRT1475399	hsa-miR-4283	CLIP-seq
MIRT1475400	hsa-miR-4325	CLIP-seq
MIRT1475401	hsa-miR-4463	CLIP-seq
MIRT1475402	hsa-miR-4489	CLIP-seq
MIRT1475403	hsa-miR-4494	CLIP-seq
MIRT1475404	hsa-miR-4645-5p	CLIP-seq
MIRT1475405	hsa-miR-4652-5p	CLIP-seq
MIRT1475406	hsa-miR-4667-5p	CLIP-seq
MIRT1475407	hsa-miR-4668-3p	CLIP-seq
MIRT1475408	hsa-miR-4673	CLIP-seq
MIRT1475409	hsa-miR-4684-5p	CLIP-seq
MIRT1475410	hsa-miR-4700-5p	CLIP-seq
MIRT1475411	hsa-miR-4712-3p	CLIP-seq
MIRT1475412	hsa-miR-4725-5p	CLIP-seq
MIRT1475413	hsa-miR-4726-3p	CLIP-seq
MIRT1475414	hsa-miR-4728-5p	CLIP-seq
MIRT1475415	hsa-miR-4731-5p	CLIP-seq
MIRT1475416	hsa-miR-4753-3p	CLIP-seq
MIRT1475417	hsa-miR-4786-5p	CLIP-seq
MIRT1475418	hsa-miR-4793-3p	CLIP-seq
MIRT1475384	hsa-miR-494	CLIP-seq
MIRT1475419	hsa-miR-504	CLIP-seq
MIRT1475420	hsa-miR-612	CLIP-seq
MIRT1475421	hsa-miR-616	CLIP-seq
MIRT1475422	hsa-miR-769-5p	CLIP-seq
MIRT1475423	hsa-miR-921	CLIP-seq
MIRT1475424	hsa-miR-939	CLIP-seq
MIRT1921324	hsa-miR-3149	CLIP-seq
MIRT1921325	hsa-miR-630	CLIP-seq
MIRT1921326	hsa-miR-664	CLIP-seq
MIRT2143248	hsa-miR-4310	CLIP-seq
MIRT2143249	hsa-miR-4762-3p	CLIP-seq
MIRT1475417	hsa-miR-4786-5p	CLIP-seq
MIRT1475421	hsa-miR-616	CLIP-seq
MIRT2462919	hsa-miR-2682	CLIP-seq
MIRT2462920	hsa-miR-3153	CLIP-seq
MIRT2462921	hsa-miR-34a	CLIP-seq
MIRT2462922	hsa-miR-34c-5p	CLIP-seq
MIRT2462923	hsa-miR-4261	CLIP-seq
MIRT2462924	hsa-miR-449a	CLIP-seq
MIRT2462925	hsa-miR-449b	CLIP-seq
MIRT2462926	hsa-miR-449c	CLIP-seq
MIRT2462927	hsa-miR-4678	CLIP-seq
MIRT2462928	hsa-miR-548m	CLIP-seq
MIRT2462929	hsa-miR-940	CLIP-seq
MIRT1475386	hsa-miR-10a	CLIP-seq
MIRT1475387	hsa-miR-10b	CLIP-seq
MIRT2466315	hsa-miR-339-5p	CLIP-seq
MIRT2466316	hsa-miR-3613-3p	CLIP-seq
MIRT2466317	hsa-miR-3667-5p	CLIP-seq
MIRT2466318	hsa-miR-371-5p	CLIP-seq
MIRT2466319	hsa-miR-371b-5p	CLIP-seq
MIRT2466320	hsa-miR-4421	CLIP-seq
MIRT1475412	hsa-miR-4725-5p	CLIP-seq
MIRT1475419	hsa-miR-504	CLIP-seq
MIRT1475386	hsa-miR-10a	CLIP-seq
MIRT1475387	hsa-miR-10b	CLIP-seq
MIRT2657215	hsa-miR-1283	CLIP-seq
MIRT2466315	hsa-miR-339-5p	CLIP-seq
MIRT2466316	hsa-miR-3613-3p	CLIP-seq
MIRT2466317	hsa-miR-3667-5p	CLIP-seq
MIRT2466318	hsa-miR-371-5p	CLIP-seq
MIRT2466319	hsa-miR-371b-5p	CLIP-seq
MIRT2657216	hsa-miR-4282	CLIP-seq
MIRT2466320	hsa-miR-4421	CLIP-seq
MIRT2657217	hsa-miR-451b	CLIP-seq
MIRT1475409	hsa-miR-4684-5p	CLIP-seq
MIRT2657218	hsa-miR-4696	CLIP-seq
MIRT1475412	hsa-miR-4725-5p	CLIP-seq
MIRT2657219	hsa-miR-4738-3p	CLIP-seq
MIRT1475417	hsa-miR-4786-5p	CLIP-seq
MIRT2657220	hsa-miR-4797-5p	CLIP-seq
MIRT1475419	hsa-miR-504	CLIP-seq
MIRT2657221	hsa-miR-593	CLIP-seq
MIRT1475422	hsa-miR-769-5p	CLIP-seq
MIRT2657219	hsa-miR-4738-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	ISS
GO:0005515	Function	Protein binding	IPI	25036637
GO:0005829	Component	Cytosol	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0051879	Function	Hsp90 protein binding	IBA	21873635
GO:0061077	Process	Chaperone-mediated protein folding	IBA	21873635

Other IDs

• MIM: 611220
• HGNC: 14304
• e!Ensembl: ENSG00000141161

Protein

• UniProt ID: Q8IWX7
• Protein name: Protein unc-45 homolog B (Unc-45B) (SMUNC45)
• Protein function: Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development. {ECO:0000250|UniProtKB:Q6DGE9, EC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11701	UNC45-central	298 → 489	Myosin-binding striated muscle assembly central	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in eye lens tissues. Expressed in muscle (at protein level) (PubMed:33217308). {ECO:0000269|PubMed:24549050, ECO:0000269|PubMed:33217308}.
• Sequence:

  MAEVEAVQLKEEGNRHFQLQDYKAATNSYSQALKLTKDKALLATLYRNRAACGLKTESYV
  QAASDASRAIDINSSDIKALYRRCQALEHLGKLDQAFKDVQRCATLEPRNQNFQEMLRRL
  NTSIQEKLRVQFSTDSRVQKMFEILLDENSEADKREKAANNLIVLGREEAGAEKIFQNNG
  VALLLQLLDTKKPELVLAAVRTLSGMCSGHQARATVILHAVRIDRICSLMAVENEEMSLA
  VCNLLQAIIDSLSGEDKREHRGKEEALVLDTKKDLKQITSHLLDMLVSKKVSGQGRDQAL
  NLLNKNVPRKDLAIHDNSRTIYVVDNGLRKILKVVGQVPDLPSCLPLTDNTRMLASILIN
  KLYDDLRCDPERDHFRKICEEYITGKFDPQDMDKNLNAIQTVSGILQGPFDLGNQLLGLK
  GVMEMMVALCGSERETDQLVAVEALIHASTKLSRATFIITNGVSLLKQIYKTTKNEKIKI
  RTLVGLCKLGSAGGTDYGLRQFAEGSTEKLAKQCRKWLCNMSIDTRTRRWAVEGLAYLTL
  DADVKDDFVQDVPALQAMFELAKAGTSDKTILYSVATTLVNCTNSYDVKEVIPELVQLAK
  FSKQHVPEEHPKDKKDFIDMRVKRLLKAGVISALACMVKADSAILTDQTKELLARVFLAL
  CDNPKDRGTIVAQGGGKALIPLALEGTDVGKVKAAHALAKIAAVSNPDIAFPGERVYEVV
  RPLVRLLDTQRDGLQNYEALLGLTNLSGRSDKLRQKIFKERALPDIENYMFENHDQLRQA
  ATECMCNMVLHKEVQERFLADGNDRLKLVVLLCGEDDDKVQNAAAGALAMLTAAHKKLCL
  KMTQVTTQWLEILQRLCLHDQLSVQHRGLVIAYNLLAADAELAKKLVESELLEILTVVGK
  QEPDEKKAEVVQTARECLIKCMDYGFIKPVS

• Sequence length: 931

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cataract	Nuclear cataract, Nuclear non-senile cataract, CATARACT 43, Early-onset posterior subcapsular cataract, Early-onset nuclear 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	24549050

Unknown
Disease term	Disease name	Evidence	References	Source
Myofibrillar myopathy	myofibrillar myopathy 11			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Myotonia Congenita	Associate	31852522
Schizophrenia	Associate	25522406