GeneBe

UNC45B

unc-45 myosin chaperone B, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 17:35147817-35189345

Previous symbols: [ "CMYA4" ]

Links

ENSG00000141161 ∙ NCBI:146862 ∙ OMIM:611220 ∙ HGNC:14304 ∙ Uniprot:Q8IWX7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • early-onset nuclear cataract (Supportive), mode of inheritance: AD
  • early-onset posterior subcapsular cataract (Supportive), mode of inheritance: AD
  • myofibrillar myopathy 11 (Moderate), mode of inheritance: AR
  • cataract 43 (Strong), mode of inheritance: AD
  • cataract 43 (Limited), mode of inheritance: Unknown
  • myofibrillar myopathy 11 (Strong), mode of inheritance: AR
  • myofibrillar myopathy 11 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Myofibrillar myopathy 11ADCardiovascularAmong other findings, the condition can involve arrhthymias and cardiomyopathy, and awareness may allow surveillance and early management of these sequelaeCardiovascular; Musculoskeletal; Ophthalmologic24549050; 31852522; 33217308

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UNC45B gene.

  • Inborn_genetic_diseases (155 variants)
  • not_provided (140 variants)
  • UNC45B-related_disorder (26 variants)
  • Myofibrillar_myopathy_11 (13 variants)
  • Cataract_43 (7 variants)
  • Dilated_cardiomyopathy_1A (2 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
  • not_specified (1 variants)
  • Myopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC45B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001267052.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
32
clinvar
9
clinvar
 42
missense
3
clinvar
2
clinvar
183
clinvar
13
clinvar
4
clinvar
 205
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
0
Total 3 2 185 45 13

Highest pathogenic variant AF is 0.00012011186

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UNC45Bprotein_codingprotein_codingENST00000268876 1941529
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.91e-150.8531256670811257480.000322
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4045695431.050.00003206048
Missense in Polyphen156154.621.00891654
Synonymous0.6072132250.9480.00001331887
Loss of Function2.043044.80.6700.00000257496

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004580.000458
Ashkenazi Jewish0.00009920.0000992
East Asian0.00005470.0000544
Finnish0.0004630.000462
European (Non-Finnish)0.0003460.000343
Middle Eastern0.00005470.0000544
South Asian0.0005320.000523
Other0.0006600.000652

dbNSFP

Source: dbNSFP

Function
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, ECO:0000250|UniProtKB:Q8CGY6}.;
Disease
DISEASE: Cataract 43 (CTRCT43) [MIM:616279]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269|PubMed:24549050}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.109

Intolerance Scores

loftool
0.840
rvis_EVS
0.3
rvis_percentile_EVS
71.68

Haploinsufficiency Scores

pHI
0.218
hipred
Y
hipred_score
0.672
ghis
0.517

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
1.00

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Unc45b
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
unc45b
Affected structure
lens fiber cell
Phenotype tag
abnormal
Phenotype quality
disorganized

Gene ontology

Biological process
lens development in camera-type eye;muscle organ development;cell differentiation;chaperone-mediated protein folding
Cellular component
cytosol
Molecular function
protein binding;Hsp90 protein binding