2. Gene
  3. UNC45B - unc-45 myosin chaperone B Gene

UNC45B - unc-45 myosin chaperone B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CMYA4; MFM11; UNC45; CTRCT43; SMUNC45; UNC-45B

Gene ID: 146862 | Gene type: protein coding

About UNC45B

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,147,817-35,189,345 (from NCBI)

This gene has 3 transcripts (splice variants), 218 orthologues, 18 paralogues and is associated with 6 phenotypes. Restricted expression toward heart (RPKM 36.4).

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 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]

UNC45B Products(4)

mRNA Protein Name
NM_001033576.2 NP_001028748.1 protein unc-45 homolog B isoform 2
NM_001267052.2 NP_001253981.1 protein unc-45 homolog B isoform 2
NM_001308281.1 NP_001295210.1 protein unc-45 homolog B isoform 3
NM_173167.3 NP_775259.1 protein unc-45 homolog B isoform 1

UNC45B Protein Structure

TPR_11

TPR_11: TPR repeat (6 - 73)

TPR_1

TPR_1: Tetratricopeptide repeat (78 - 110)

UNC45-central

UNC45-central: Myosin-binding striated muscle assembly central (273 - 489)

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  • 931 a.a.
Protein Preferred Names Protein Names

protein unc-45 homolog B

cardiomyopathy associated 4

Related Diseases

Diseases Alias
Cataract 43

CTRCT43

Cataract, Type 43
Myofibrillar Myopathy 11

MFM11

Myopathy, Congenital, With Eccentric Cores

Myopathy, Myofibrillar, 11
Early-Onset Posterior Subcapsular Cataract
Myopathy

Muscular Diseases

Myopathies
Early-Onset Nuclear Cataract
Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Inflammatory Bowel Disease 27

IBD27
Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy, Congenital, Due To Itga7 Deficiency

Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy With Itga7 Deficiency

Congenital Myopathy Due To Integrin Alpha-7 Deficiency

Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency

MDCI

Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Deafness, Autosomal Recessive 102

DFNB102

Autosomal Recessive Nonsyndromic Deafness 102

Autosomal Recessive Deafness 102

Deafness, Autosomal Recessive, 102

Deafness, Autosomal Recessive, Type 102
Nonaka Myopathy

Gne Myopathy

Hibm

Distal Myopathy With Rimmed Vacuoles

Hereditary Inclusion Body Myopathy

Ibm2

Inclusion Body Myopathy, Quadriceps-Sparing

Qsm

Dmrv

Distal Myopathy, Nonaka Type

Inclusion Body Myopathy 2

Inclusion Body Myopathy, Autosomal Recessive

NM

Nonaka Distal Myopathy

Myopathy, Distal, With Or Without Rimmed Vacuoles

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Ibm2, Formerly

Hibm2

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2, Autosomal Recessive

Myopathy, Distal, With Rimmed Vacuoles

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Inclusion Body, Type 2

Myopathy, Nonaka
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15469 UNC45B Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta UNC45B VGNC VGNC:78954
Felis catus UNC45B VGNC VGNC:66826
Bos taurus UNC45B VGNC VGNC:36668
Rattus norvegicus UNC45B RGD RGD:1305666
Canis familiaris UNC45B VGNC VGNC:48138
Mus musculus UNC45B MGD MGI:2443377