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USP6 - ubiquitin specific peptidase 6 Gene

Also Known as HRP1; TRE2; TRE17; Tre-2; TRESMCR; USP6-short

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9098

About USP6

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,116,032-5,174,991 (from NCBI)

This gene has 6 transcripts (splice variants), 226 orthologues, 71 paralogues and is associated with 93 phenotypes. Biased expression in testis (RPKM 9.4), ovary (RPKM 2.5) and 9 other tissues.

Summary

Enables thiol-dependent Deubiquitinase. Involved in protein deubiquitination and regulation of vesicle-mediated transport. Located in plasma membrane and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022]

USP6 Products (2)

mRNA	Protein	Name
NM_001304284.2	NP_001291213.1	ubiquitin carboxyl-terminal hydrolase 6
NM_004505.4	NP_004496.2	ubiquitin carboxyl-terminal hydrolase 6

USP6 Protein Structure

RabGAP-TBC

UCH

0
300
600
900
1200
1406 a.a.

Protein Preferred Names	Protein Names
ubiquitin carboxyl-terminal hydrolase 6	TBC1D3 and USP32 fusion

Related Diseases

Diseases	Alias
Pseudosarcomatous Fibromatosis	Nodular Fasciitis Pseudosarcomatous Fasciitis Fasciitis - Nodular Fasciitis Nodular
Fasciitis
Myositis Ossificans	Myisitis Ossificans Ossification - Muscle
Telangiectatic Osteogenic Sarcoma	Telangiectatic Osteosarcoma
Fibroosseous Pseudotumor Of Digits	Fibroosseous Digital Pseudotumor Fibroosseous Pseudotumor Of The Digits
Intravascular Fasciitis	Intravascular Pseudosarcomatous Fasciitis
Ischemic Fasciitis	Atypical Decubital Fibroplasia
Proliferative Fasciitis
Cherubism	CRBM Familial Benign Giant-Cell Tumor Of The Jaw Familial Fibrous Dysplasia Of Jaw Familial Multilocular Cystic Disease Of The Jaws
Fibroma
Deafness, Autosomal Dominant 65	DFNA65 Autosomal Dominant Nonsyndromic Deafness 65 Autosomal Dominant Deafness 65 Deafness, Autosomal Dominant, 65 Deafness, Autosomal Dominant, Type 65
Deafness, Autosomal Recessive 86	DFNB86 Autosomal Recessive Nonsyndromic Deafness 86 Autosomal Recessive Deafness 86 Deafness, Autosomal Recessive, 86 Deafness, Nonsyndromic, Autosomal Recessive, Type 86
Conventional Osteosarcoma	Intracortical Osteosarcoma Conventional Central Osteosarcoma Intracortical Osteogenic Sarcoma Medullary Osteosarcoma
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome	Door Syndrome Doors Syndrome Digitorenocerebral Syndrome Autosomal Recessive Deafness-Onychodystrophy Syndrome Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome DOORS Drc Syndrome Eronen Syndrome Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Brachydactyly Due To Absence Of Distal Phalanges Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome Deafness, Congenital Onychodystrophy, Recessive Form Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Developmental And Epileptic Encephalopathy 16	DEE16 Epileptic Encephalopathy, Early Infantile, 16 Eiee16 Developmental And Epileptic Encephalopathy, 16 Early Infantile Epileptic Encephalopathy 16 Progressive Myoclonic Epilepsy With Dystonia Pmed Progressive Myoclonus Epilepsy With Dystonia Encephalopathy, Epileptic, Early Infantile, Type 16
Ossifying Fibroma	Peripheral Ossifying Fibroma Fibro-Osteoma Fibroma Ossifying Fibroma, Ossifying
Periosteal Osteogenic Sarcoma	Periosteal Osteosarcoma Parosteal Osteosarcoma
Giant Cell Reparative Granuloma	Central Giant Cell Granuloma Central Giant Cell Reparative Granuloma Of Jaw Central Giant Cell Granuloma Granuloma, Giant Cell Granuloma, Giant Cell Reparative Giant Cell Lesion Of Small Bones Giant Cell Granuloma, Nos
Bone Benign Neoplasm
Trigonitis	Bladder Trigonitis Pseudomembranous Trigonitis
Osteoblastoma
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Oculoectodermal Syndrome	Aplasia Cutis Congenita With Epibulbar Dermoids Toriello-Lacassie-Droste Syndrome Oculoectodermal Syndrome, Somatic OES Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome Oculo-Ectodermal Syndrome Toriello Lacassie Droste Syndrome
Bone Giant Cell Tumor	Giant Cell Tumor Of Bone Osteoclastoma Gct Of Bone Bone Giant Cell Tumour Giant Cell Myeloma Giant Cell Neoplasm Of Bone Giant Cell Tumour Of Bone
Bone Osteosarcoma	Osteosarcoma Of Bone Primary Osteosarcoma Of Bone
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Tenosynovial Giant Cell Tumor	Fibrous Histiocytoma Of Tendon Sheath Giant Cell Tumor Of Tendon Sheath Giant Cell Tumor Of Tenosynovium Giant Cell Tumour Of Tendon Sheath Giant Cell Tumour Of Tenosynovium Tenosynovial Giant Cell Tumour Diffuse-Type Gct Diffuse-Type Giant Cell Tumor Pigmented Villonodular Synovitis Tgct Tsgct
Bone Epithelioid Hemangioma	Bone Hemangioma Hemangioma Of Bone Osseous Epithelioid Hemangioma Osseous Hemangioma
Myofibroma	Lipoleiomyoma Uterine Fibroids Solitary Myofibromatosis Myolipoma
Benign Giant Cell Tumor	Giant Cell Tumors
Clear Cell Chondrosarcoma	Chondrosarcoma, Clear Cell
Peripheral Osteosarcoma	Surface Osteosarcoma Bone Surface Osteosarcoma

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15566	USP6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15567	USP6NL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20616	Usp6nl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27124	Usp6nl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown