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Aliases for UNC45B Gene

Aliases for UNC45B Gene

  • Unc-45 Myosin Chaperone B 2 3 5
  • Cardiomyopathy Associated 4 2 3
  • UNC-45B 3 4
  • SMUNC45 3 4
  • CMYA4 3 4
  • UNC45 3 4
  • Unc-45 Homolog B (C. Elegans) 2
  • Protein Unc-45 Homolog B 3
  • Striated Muscle UNC45 3
  • Unc-45 Homolog B 3
  • CTRCT43 3

External Ids for UNC45B Gene

Previous HGNC Symbols for UNC45B Gene

  • CMYA4

Previous GeneCards Identifiers for UNC45B Gene

  • GC17P030500
  • GC17P033474
  • GC17P029659

Summaries for UNC45B Gene

Entrez Gene Summary for UNC45B Gene

  • 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 that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for UNC45B Gene

UNC45B (Unc-45 Myosin Chaperone B) is a Protein Coding gene. Diseases associated with UNC45B include Cataract 43 and Early-Onset Posterior Subcapsular Cataract. GO annotations related to this gene include binding and Hsp90 protein binding. An important paralog of this gene is UNC45A.

UniProtKB/Swiss-Prot for UNC45B Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC45B Gene

Genomics for UNC45B Gene

Regulatory Elements for UNC45B Gene

Enhancers for UNC45B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F035176 0.4 ENCODE 11.8 +29.8 29817 1.2 PBX2 NLE1 SLFN5 UNC45B SLFN12L SLFN13 RNU6-840P GC17M035176 GC17M035166
GH17F035185 0.5 FANTOM5 11.4 +38.2 38199 0.2 PKNOX1 MTA2 IKZF1 NBN EBF1 TBX21 SPI1 SLFN5 UNC45B NLE1 SLFN12L RFFL ENSG00000266981 GC17M035176
GH17F035187 0.9 Ensembl ENCODE 11.4 +41.1 41104 2.2 ZNF121 ZFHX2 ZNF680 RNF2 CEBPB EP300 SLFN5 UNC45B NLE1 SLFN12L ENSG00000266981 LOC100130114
GH17F035212 1.4 FANTOM5 Ensembl ENCODE 10.6 +67.3 67294 5.4 PKNOX1 ZNF133 ETV1 CEBPG GABPA OSR2 ZNF157 TRIM28 SPI1 SLFN5 NLE1 SLFN12L ENSG00000267321 UNC45B ZNF830 SLC35G3
GH17F035217 1.2 Ensembl ENCODE 10.4 +71.1 71113 2.2 CEBPB FOS NR2F2 SLFN5 UNC45B NLE1 SLFN12L SLC35G3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around UNC45B on UCSC Golden Path with GeneCards custom track

Promoters for UNC45B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001806608 603 400 ESRRA NFRKB GATA2 NCOR1 STAT2 NR2F6 STAT1 MTA2 NRF1 NR2F1

Genomic Location for UNC45B Gene

Chromosome:
17
Start:
35,147,798 bp from pter
End:
35,189,345 bp from pter
Size:
41,548 bases
Orientation:
Plus strand

Genomic View for UNC45B Gene

Genes around UNC45B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC45B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC45B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC45B Gene

Proteins for UNC45B Gene

  • Protein details for UNC45B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWX7-UN45B_HUMAN
    Recommended name:
    Protein unc-45 homolog B
    Protein Accession:
    Q8IWX7
    Secondary Accessions:
    • Q495Q8
    • Q495Q9

    Protein attributes for UNC45B Gene

    Size:
    931 amino acids
    Molecular mass:
    103733 Da
    Quaternary structure:
    • Interacts with HSP90 in an ATP-independent manner.

    Alternative splice isoforms for UNC45B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UNC45B Gene

Post-translational modifications for UNC45B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UNC45B Gene

No data available for DME Specific Peptides for UNC45B Gene

Domains & Families for UNC45B Gene

Suggested Antigen Peptide Sequences for UNC45B Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWX7

UniProtKB/Swiss-Prot:

UN45B_HUMAN :
  • Contains 3 ARM repeats.
Similarity:
  • Contains 3 ARM repeats.
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with UNC45B: view

No data available for Gene Families for UNC45B Gene

Function for UNC45B Gene

Molecular function for UNC45B Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for UNC45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25036637
GO:0051879 Hsp90 protein binding IEA --
genes like me logo Genes that share ontologies with UNC45B: view
genes like me logo Genes that share phenotypes with UNC45B: view

Human Phenotype Ontology for UNC45B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UNC45B Gene

Localization for UNC45B Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC45B Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UNC45B Gene COMPARTMENTS Subcellular localization image for UNC45B gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for UNC45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with UNC45B: view

Pathways & Interactions for UNC45B Gene

SuperPathways for UNC45B Gene

No Data Available

Gene Ontology (GO) - Biological Process for UNC45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye ISS --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0030154 cell differentiation IEA --
GO:0061077 chaperone-mediated protein folding IEA --
genes like me logo Genes that share ontologies with UNC45B: view

No data available for Pathways by source and SIGNOR curated interactions for UNC45B Gene

Transcripts for UNC45B Gene

Unigene Clusters for UNC45B Gene

Unc-45 homolog B (C. elegans):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC45B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:

Relevant External Links for UNC45B Gene

GeneLoc Exon Structure for
UNC45B
ECgene alternative splicing isoforms for
UNC45B

Expression for UNC45B Gene

mRNA expression in normal human tissues for UNC45B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UNC45B Gene

This gene is overexpressed in Muscle - Skeletal (x21.6), Heart - Left Ventricle (x18.5), and Heart - Atrial Appendage (x10.1).

Protein differential expression in normal tissues from HIPED for UNC45B Gene

This gene is overexpressed in Fetal heart (49.0) and Heart (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UNC45B Gene



Protein tissue co-expression partners for UNC45B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UNC45B Gene:

UNC45B

SOURCE GeneReport for Unigene cluster for UNC45B Gene:

Hs.379636

mRNA Expression by UniProt/SwissProt for UNC45B Gene:

Q8IWX7-UN45B_HUMAN
Tissue specificity: Expressed in eye lens tissues.
genes like me logo Genes that share expression patterns with UNC45B: view

Primer Products

Orthologs for UNC45B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UNC45B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNC45B 34 35
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia UNC45B 34 35
  • 91.53 (n)
cow
(Bos Taurus)
Mammalia UNC45B 34 35
  • 89.99 (n)
mouse
(Mus musculus)
Mammalia Unc45b 34 16 35
  • 88.77 (n)
rat
(Rattus norvegicus)
Mammalia Unc45b 34
  • 87.83 (n)
oppossum
(Monodelphis domestica)
Mammalia UNC45B 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 44 (a)
ManyToMany
chicken
(Gallus gallus)
Aves UNC45B 34 35
  • 75.82 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 79 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia unc45b 34
  • 70.38 (n)
Str.11279 34
zebrafish
(Danio rerio)
Actinopterygii unc45b 34 35
  • 69.29 (n)
unc45r 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003727 34
  • 51.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-45 34 35
  • 49.16 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-45 34 35
  • 45.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM70 35
  • 14 (a)
ManyToMany
TOM71 35
  • 13 (a)
ManyToMany
Species where no ortholog for UNC45B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC45B Gene

ENSEMBL:
Gene Tree for UNC45B (if available)
TreeFam:
Gene Tree for UNC45B (if available)

Paralogs for UNC45B Gene

Paralogs for UNC45B Gene

(1) SIMAP similar genes for UNC45B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UNC45B: view

Variants for UNC45B Gene

Sequence variations from dbSNP and Humsavar for UNC45B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs370424081 Cataract 43 (CTRCT43) [MIM:616279], Pathogenic 35,183,460(+) ATGAC(C/T)GGCTG reference, missense
VAR_035870 A breast cancer sample
rs10853175 -- 35,166,217(+) GAGCC(G/T)TGAAT intron-variant
rs111228654 -- 35,184,939(+) TGCTT(C/T)CTGCT intron-variant
rs111348986 -- 35,181,925(+) TGGGC(A/G)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UNC45B Gene

Variant ID Type Subtype PubMed ID
dgv569e214 CNV gain 21293372
esv3892998 CNV loss 25118596
nsv2037 CNV deletion 18451855

Variation tolerance for UNC45B Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 80.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UNC45B Gene

Human Gene Mutation Database (HGMD)
UNC45B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC45B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC45B Gene

Disorders for UNC45B Gene

MalaCards: The human disease database

(4) MalaCards diseases for UNC45B Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UN45B_HUMAN
  • 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.

Relevant External Links for UNC45B

Genetic Association Database (GAD)
UNC45B
Human Genome Epidemiology (HuGE) Navigator
UNC45B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC45B
genes like me logo Genes that share disorders with UNC45B: view

No data available for Genatlas for UNC45B Gene

Publications for UNC45B Gene

  1. The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. (PMID: 24549050) Hansen L. … Pilgrim D. (Eur. J. Hum. Genet. 2014) 2 3 4 64
  2. UCS proteins: chaperones for myosin and co-chaperones for Hsp90. (PMID: 25487020) Ni W. … Odunuga O.O. (Subcell. Biochem. 2015) 2 3 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions. (PMID: 12356907) Price M.G. … Epstein H.F. (J. Cell Sci. 2002) 3 4 64

Products for UNC45B Gene

Sources for UNC45B Gene

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