Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	146862
Gene name	Unc-45 myosin chaperone B
Gene symbol	UNC45B
Synonyms (NCBI Gene)	CMYA4CTRCT43MFM11SMUNC45UNC-45BUNC45
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

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

124

Show/Hide all (124)

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

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	ISS
GO:0005515	Function	Protein binding	IPI	25036637, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006457	Process	Protein folding	IBA
GO:0007517	Process	Muscle organ development	IEA
GO:0030018	Component	Z disc	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031672	Component	A band	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051879	Function	Hsp90 protein binding	IBA
GO:0051879	Function	Hsp90 protein binding	IEA

MIM	HGNC	e!Ensembl
611220	14304	ENSG00000141161

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 43	Pathogenic	rs370424081	RCV000167576	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 11	Pathogenic; Likely pathogenic	rs139715157, rs199583516, rs2092244236, rs775340790	RCV001291530 RCV001291532 RCV001291533 RCV001291534	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs139715157	RCV001034707	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UNC45B-related disorder	Pathogenic	rs139715157	RCV003396625	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR SUBCAPSULAR CATARACT	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cardiomyopathies	Cardiomyopathy	BEFREE	24367279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24549050		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 43	Cataract	UNIPROT_DG	24549050		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CATARACT 43	Cataract	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CATARACT 43	Cataract	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebrovascular accident	Stroke	BEFREE	29321955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset nuclear cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset posterior subcapsular cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	CTD_human_DG	17189627		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	31852522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	24549050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	24549050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25522406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

UNC45B (unc-45 myosin chaperone B)