1. Gene
  2. EXOSC7 - exosome component 7 Gene

EXOSC7 - exosome component 7 Gene

Homo sapiens

Also known as p8; EAP1; RRP42; Rrp42p; hRrp42p

Gene ID: 23016 | Gene type: protein coding

About EXOSC7

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:44,976,244-45,012,668 (from NCBI)

This gene has 11 transcripts (splice variants), 204 orthologues and 2 paralogues. Ubiquitous expression in adrenal (RPKM 11.2), skin (RPKM 10.6) and 25 other tissues.

Summary

Predicted to enable 3'-5'-exoribonuclease activity and RNA binding activity. Predicted to be involved in RNA metabolic process. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

EXOSC7 Products(1)

mRNA Protein Name
NM_015004.4 NP_055819.2 exosome complex component RRP42

EXOSC7 Protein Structure

RNase_PH

RNase_PH: 3' exoribonuclease family, domain 1 (32 - 166)

RNase_PH_C

RNase_PH_C: 3' exoribonuclease family, domain 2 (197 - 261)

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

exosome complex component RRP42

exosome complex exonuclease RRP42

Related Diseases

Diseases Alias
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 1b

Pontocerebellar Hypoplasia Type 1b

PCH1B

Pontocerebellar Hypoplasia 1b

Hypoplasia, Pontocerebellar, Type 1b

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

Trichohepatoenteric Syndrome 2

THES2

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

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 EXOSC7 MGD MGI:1913696
Macaca mulatta EXOSC7 VGNC VGNC:72383
Canis familiaris EXOSC7 VGNC VGNC:40527
Rattus norvegicus EXOSC7 RGD RGD:1309758
Felis catus EXOSC7 VGNC VGNC:62009
Bos taurus EXOSC7 VGNC VGNC:28661