EXOSC2 - exosome component 2 Gene

Also Known as p7; RRP4; SHRF; Rrp4p; hRrp4p

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23404

About EXOSC2

Cytogenetic location: 9q34.12 Genomic coordinates (GRCh38): 9:130,693,760-130,704,894 (from NCBI)

This gene has 34 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 5.3), ovary (RPKM 5.1) and 25 other tissues.

Summary

Predicted to enable RNA binding activity. Involved in positive regulation of cell growth. Located in cytoplasm; nucleolus; and nucleoplasm. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

EXOSC2 Products (3)

mRNA Protein Name
NM_001282708.1 NP_001269637.1 exosome complex component RRP4 isoform 2
NM_001282709.1 NP_001269638.1 exosome complex component RRP4 isoform 3
NM_014285.7 NP_055100.2 exosome complex component RRP4 isoform 1

EXOSC2 Protein Structure

ECR1_N

ECR1_N: Exosome complex exonuclease RRP4 N-terminal region (26 - 64)

  • 0
  • 100
  • 200
  • 293 a.a.
Protein Preferred Names Protein Names

exosome complex component RRP4

  • exosome complex exonuclease RRP4

EXOSC2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EXOSC2 Q13868 ZNF408 Homo sapiens Q9H9D4
Y2H
15231747
Intra
EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3 26496610
Intra
EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3 33961781
Intra
EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3 17545563
Intra
EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3
TAP
11719186
Intra
EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3
Y2H
12419256
Intra
EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024
TAP
11719186
Intra
EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024
Y2H
15231747
Intra
EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024 33961781
Intra
EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024 26496610
Intra
EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024
Y2H
12419256
Intra
EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5 21255825
Intra
EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5 33961781
Intra
EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5 26496610
Intra
EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5
TAP
11719186
Intra
EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5 17545563
Intra
EXOSC2 Q13868 MPHOSPH6 Homo sapiens Q99547 16396833
Intra
EXOSC2 Q13868 MPHOSPH6 Homo sapiens Q99547
GMS
16396833
Intra
EXOSC2 Q13868 MPHOSPH6 Homo sapiens Q99547
TAP
11719186
Intra
EXOSC2 Q13868 DIS3L Homo sapiens Q8TF46-1 20531389
Cross: Cross-species interaction Intra: Intraspecies interaction

EXOSC2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82141 RRP4 Antibody (YA1886) WB Human, Mouse, Rat
HY-P82141A RRP4 Antibody (YA1886)(PBS only) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
  • Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome

  • SHRF

  • Retinitis Pigmentosa-Deafness-Premature Aging-Short Stature-Facial Dysmorphism Syndrome

Pontocerebellar Hypoplasia, Type 1b
  • Pontocerebellar Hypoplasia Type 1b

  • PCH1B

  • Pontocerebellar Hypoplasia 1b

  • Hypoplasia, Pontocerebellar, Type 1b

Pontocerebellar Hypoplasia, Type 1c
  • PCH1C

  • Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia

  • Pontocerebellar Hypoplasia Type 1c

  • Pontocerebellar Hypoplasia 1c

  • Doid:0112334

  • Hypoplasia, Pontocerebellar, Type 1c

Trichohepatoenteric Syndrome 1
  • Trichohepatoenteric Syndrome

  • Syndromic Diarrhea

  • Tricho-Hepato-Enteric Syndrome

  • Sd/The

  • Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

  • THES1

  • Phenotypic Diarrhea

  • Thes

  • Phenotypic Diarrhea Of Infancy

  • Diarrhea, Syndromic

  • Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

  • Intractable Diarrhea With Phenotypic Anomalies

  • Syndromatic Diarrhea

  • Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Pontocerebellar Hypoplasia, Type 1d
  • PCH1D

  • Pontocerebellar Hypoplasia Type 1d

  • Pontocerebellar Hypoplasia 1d

  • Doid:0112323

  • Hypoplasia, Pontocerebellar, Type 1d

Trichohepatoenteric Syndrome 2
  • THES2

Telangiectatic Osteogenic Sarcoma
  • Telangiectatic Osteosarcoma

Pontocerebellar Hypoplasia, Type 1e
  • Pontocerebellar Hypoplasia Type 1

  • PCH1E

  • Norman Disease

  • Pch1

  • Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

  • Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

  • Pontocerebellar Hypoplasia Type 1e

  • Pontocerebellar Hypoplasia 1e

  • Doid:0112322

  • Doid:0112330

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
  • Pharc Syndrome

  • PHARC

  • Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

  • Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

  • Peripheral Neuropathy, Fiskerstrand Type

  • Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract

Brachydactyly
Pontocerebellar Hypoplasia
  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

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
Felis catus EXOSC2 VGNC VGNC:62007
Canis familiaris EXOSC2 VGNC VGNC:40523
Mus musculus EXOSC2 MGD MGI:2385133
Bos taurus EXOSC2 VGNC VGNC:28657
Macaca mulatta EXOSC2 VGNC VGNC:72287
Rattus norvegicus EXOSC2 RGD RGD:1306573
Others EXOSC2 NCBI