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  2. EXOSC2 - exosome component 2 Gene

EXOSC2 - exosome component 2 Gene

Homo sapiens

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

Gene ID: 23404 | Gene type: protein coding

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 Reference
Intra EXOSC2 Q13868 ZNF408 Homo sapiens Q9H9D4
Y2H
15231747
Intra EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3
Anti Tag CoIP
26496610
Intra EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3
Anti Tag CoIP
33961781
Intra EXOSC2 Q13868 EXOSC4 Homo sapiens Q9NPD3
Density Sedimentation
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
Anti Tag CoIP
33961781
Intra EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024
Anti Tag CoIP
26496610
Intra EXOSC2 Q13868 EXOSC7 Homo sapiens Q15024
Y2H
12419256
Intra EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5
Anti Tag CoIP
21255825
Intra EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5
Anti Tag CoIP
33961781
Intra EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5
Anti Tag CoIP
26496610
Intra EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5
TAP
11719186
Intra EXOSC2 Q13868 EXOSC3 Homo sapiens Q9NQT5
Density Sedimentation
17545563
Intra EXOSC2 Q13868 MPHOSPH6 Homo sapiens Q99547
Anti Bait CoIP
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
Anti Tag CoIP
20531389
Cross: Cross-species interaction Intra: Intraspecies interaction

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