TSR2 - TSR2 ribosome maturation factor Gene

Also Known as WGG1; DBA14; DT1P1A10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 90121

About TSR2

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:54,440,404-54,448,032 (from NCBI)

This gene has 1 transcript (splice variant), 190 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 38.9), kidney (RPKM 30.3) and 25 other tissues.

Summary

The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in Apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]

TSR2 Products (5)

mRNA Protein Name
NM_001346789.2 NP_001333718.1 pre-rRNA-processing protein TSR2 homolog isoform b
NM_001346790.2 NP_001333719.1 pre-rRNA-processing protein TSR2 homolog isoform c
NM_001346791.2 NP_001333720.1 pre-rRNA-processing protein TSR2 homolog isoform c
NM_001346792.2 NP_001333721.1 pre-rRNA-processing protein TSR2 homolog isoform c
NM_058163.3 NP_477511.1 pre-rRNA-processing protein TSR2 homolog isoform a
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSR2 Protein Structure

WGG

WGG: Pre-rRNA-processing protein TSR2 (12 - 92)

  • 0
  • 100
  • 191 a.a.
Protein Preferred Names Protein Names

pre-rRNA-processing protein TSR2 homolog

  • TSR2, 20S rRNA accumulation, homolog

TSR2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TSR2 Q969E8 CREB5 Homo sapiens Q02930-3 32296183
Intra
TSR2 Q969E8 CREB5 Homo sapiens Q02930-3 32296183
Intra
TSR2 Q969E8 KIF16B Homo sapiens Q96L93-6 32296183
Intra
TSR2 Q969E8 KIF16B Homo sapiens Q96L93-6 32296183
Intra
TSR2 Q969E8 KIF16B Homo sapiens Q96L93-6 32296183
Intra
TSR2 Q969E8 DISC1 Homo sapiens Q9NRI5-2 32296183
Intra
TSR2 Q969E8 DISC1 Homo sapiens Q9NRI5-2 32296183
Intra
TSR2 Q969E8 DISC1 Homo sapiens Q9NRI5-2 32296183
Intra
TSR2 Q969E8 SPATC1L Homo sapiens Q9H0A9-2 32296183
Intra
TSR2 Q969E8 SPATC1L Homo sapiens Q9H0A9-2 32296183
Intra
TSR2 Q969E8 SPATC1L Homo sapiens Q9H0A9-2 32296183
Intra
TSR2 Q969E8 CMIP Homo sapiens Q8IY22-3 32296183
Intra
TSR2 Q969E8 CMIP Homo sapiens Q8IY22-3 32296183
Intra
TSR2 Q969E8 PTRHD1 Homo sapiens Q6GMV3 32296183
Intra
TSR2 Q969E8 PTRHD1 Homo sapiens Q6GMV3 32296183
Intra
TSR2 Q969E8 DAPL1 Homo sapiens A0PJW8 32296183
Intra
TSR2 Q969E8 DAPL1 Homo sapiens A0PJW8 32296183
Intra
TSR2 Q969E8 CAMK2A Homo sapiens Q9UQM7 32296183
Intra
TSR2 Q969E8 CAMK2A Homo sapiens Q9UQM7 32296183
Intra
TSR2 Q969E8 CAMK2A Homo sapiens Q9UQM7 32296183
Intra
TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8-5 32296183
Intra
TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8-5 32296183
Intra
TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8-5 32296183
Intra
TSR2 Q969E8 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
TSR2 Q969E8 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
TSR2 Q969E8 ZNF474 Homo sapiens Q6S9Z5 32296183
Intra
TSR2 Q969E8 ZNF474 Homo sapiens Q6S9Z5 32296183
Intra
TSR2 Q969E8 GSC2 Homo sapiens O15499 32296183
Intra
TSR2 Q969E8 GSC2 Homo sapiens O15499 32296183
Intra
TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8 25416956
Intra
TSR2 Q969E8 LAMB2 Homo sapiens P55268 32296183
Intra
TSR2 Q969E8 LAMB2 Homo sapiens P55268 32296183
Intra
TSR2 Q969E8 MAP1LC3C Homo sapiens Q9BXW4 32296183
Intra
TSR2 Q969E8 MAP1LC3C Homo sapiens Q9BXW4 32296183
Intra
TSR2 Q969E8 MAP1LC3C Homo sapiens Q9BXW4 32296183
Intra
TSR2 Q969E8 PIAS2 Homo sapiens O75928 25416956
Intra
TSR2 Q969E8 PIAS2 Homo sapiens O75928-2 32296183
Intra
TSR2 Q969E8 PIAS2 Homo sapiens O75928-2 32296183
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 25416956
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 19060904
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 32296183
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 35271311
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 25416956
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 25416956
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 32296183
Intra
TSR2 Q969E8 RPS26 Homo sapiens P62854 19060904
Intra
TSR2 Q969E8 EXOSC3 Homo sapiens Q9NQT5 32296183
Intra
TSR2 Q969E8 EXOSC3 Homo sapiens Q9NQT5 32296183
Intra
TSR2 Q969E8 EXOSC3 Homo sapiens Q9NQT5 32296183
Intra
TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00 32296183
Intra
TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00 32296183
Intra
TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00 25416956
Intra
TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00 32296183
Intra
TSR2 Q969E8 ZNF620 Homo sapiens Q6ZNG0 32296183
Intra
TSR2 Q969E8 ZNF620 Homo sapiens Q6ZNG0 32296183
Intra
TSR2 Q969E8 RBM48 Homo sapiens Q5RL73 32296183
Intra
TSR2 Q969E8 RBM48 Homo sapiens Q5RL73 32296183
Intra
TSR2 Q969E8 GABARAP Homo sapiens O95166 32296183
Intra
TSR2 Q969E8 GABARAP Homo sapiens O95166 32296183
Intra
TSR2 Q969E8 GABARAPL2 Homo sapiens P60520 32296183
Intra
TSR2 Q969E8 GABARAPL2 Homo sapiens P60520 25416956
Intra
TSR2 Q969E8 GABARAPL2 Homo sapiens P60520 32296183
Intra
TSR2 Q969E8 GABARAPL2 Homo sapiens P60520 25416956
Intra
TSR2 Q969E8 GABARAPL2 Homo sapiens P60520 25416956
Intra
TSR2 Q969E8 GAS2L3 Homo sapiens Q86XJ1 32296183
Intra
TSR2 Q969E8 GAS2L3 Homo sapiens Q86XJ1 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
  • DBA14

  • Diamond-Blackfan Anemia 14, With Mandibulofacial Dysostosis

  • Anemia, Diamond-Blackfan, Type 14 With Mandibulofacial Dysostosis

Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
  • DBA15

  • Diamond Blackfan Anemia 15 With Mandibulofacial Dysostosis

  • Diamond-Blackfan Anemia 15, With Mandibulofacial Dysostosis

  • Diamond-Blackfan Anemia With Microtia And Cleft Palate

  • Anemia, Diamond Blackfan, Type 15 With Mandibulofacial Dysostosis

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

Aarskog-Scott Syndrome
  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome

Macrocytic Anemia
  • Anemia Macrocytic

  • Anemia, Macrocytic

  • Macrocytic Anaemia

Diamond-Blackfan Anemia 10
  • DBA10

  • Rps26-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 10

Olmsted Syndrome, X-Linked
  • OLMSX

  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked

  • Ppkmx

  • X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

  • X-Linked Olmsted Syndrome

  • Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked

Geleophysic Dysplasia 3
  • GPHYSD3

Nail Disorder, Nonsyndromic Congenital, 1
  • Nonsyndromic Congenital Nail Disorder 1

  • Twenty-Nail Dystrophy

  • Claw-Shaped Nails

  • Nail Disorder, Nonsyndromic Congenital, 10

  • Onycholysis

  • NDNC1

  • Onychauxis, Hyponychia, And Onycholysis

  • Nonsyndromic Congenital Nail Disorder 10

  • Idiopathic Trachyonychia

  • Twenty Nail Dystrophy

  • Ndnc10

  • Onychodystrophy Totalis, Isolated

  • Nail Disorder, Nonsyndromic Congenital, 10, Formerly

  • Ndnc10, Formerly

  • Autosomal Dominant Nail Dysplasia

  • Nail Disorder, Nonsyndromic Congenital 1

  • Onychodystrophy Totalis

  • Sandpaper Nails

  • Trachyonychia

  • Nail Disorder, Non-Syndromic Congenital, 1

  • Nail Disorder, Non-Syndromic Congenital, 10

  • Onychauxis Hyponychia And Onycholysis

  • Nail Disorder, Nonsyndromic Congenital, Type 10

  • Detachment Of Nail

  • Separation Of Nail Plate

Geleophysic Dysplasia 2
  • GPHYSD2

  • Geleophysic Dwarfism

  • Dysplasia, Geleophysic, Type 2

  • Geleophysic Dysplasia

Dysostosis
  • Dysostoses

Geleophysic Dysplasia 1
  • GPHYSD1

  • Geleophysic Dwarfism

  • Geleophysic Dysplasia

Severe Congenital Neutropenia 3
  • Kostmann Syndrome

  • Infantile Agranulocytosis

  • Kostmann Disease

  • Scn3

  • Severe Congenital Neutropenia Type 3

Shwachman-Diamond Syndrome 1
  • Shwachman-Diamond Syndrome

  • Shwachman Syndrome

  • Shwachman-Bodian-Diamond Syndrome

  • Sds

  • Pancreatic Insufficiency And Bone Marrow Dysfunction

  • Shwachman-Bodian Syndrome

  • SDS1

  • Lipomatosis Of Pancreas, Congenital

  • Congenital Lipomatosis Of Pancreas

  • Shwachman-Diamond Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia, Shwachman Type

  • Shwachman-Diamond-Oski Syndrome

Dyskeratosis Congenita
  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

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

Orthologs Information

Species Symbol Source ID
Mus musculus TSR2 MGD MGI:1916749
Canis familiaris TSR2 VGNC VGNC:47930
Rattus norvegicus TSR2 RGD RGD:1562416
Felis catus TSR2 VGNC VGNC:66642
Others TSR2 NCBI