RNF168 - ring finger protein 168 Gene

Also Known as RIDL; hRNF168

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 165918

About RNF168

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,468,783-196,503,768 (from NCBI)

This gene has 2 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in testis (RPKM 13.5), bone marrow (RPKM 9.5) and 24 other tissues.

Summary

This gene encodes an E3 ubiquitin Ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]

RNF168 Products (1)

mRNA Protein Name
NM_152617.4 NP_689830.2 E3 ubiquitin-protein ligase RNF168

RNF168 Protein Structure

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (16 - 54)

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  • 571 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RNF168

  • RING-type E3 ubiquitin transferase RNF168

RNF168 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RNF168 Q8IYW5 UBE2N Homo sapiens P61088 19203578
Intra
RNF168 Q8IYW5 TRIM8 Homo sapiens Q9BZR9 32296183
Intra
RNF168 Q8IYW5 TRIM8 Homo sapiens Q9BZR9 32296183
Intra
RNF168 Q8IYW5 TRIM8 Homo sapiens Q9BZR9 32296183
Intra
RNF168 Q8IYW5 ALAS1 Homo sapiens P13196 32296183
Intra
RNF168 Q8IYW5 ALAS1 Homo sapiens P13196 32296183
Intra
RNF168 Q8IYW5 RNF11 Homo sapiens Q9Y3C5
Y2H
15231748
Intra
RNF168 Q8IYW5 H1-0 Homo sapiens P07305 26503038
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Riddle Syndrome
  • RIDL

  • Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome

  • Rnf168 Deficiency

  • Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties

  • Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties

Immunodeficiency 46
  • Tfrc-Related Combined Immunodeficiency

  • IMD46

  • Cid Due To Tfrc Deficiency

  • Combined Immunodeficiency Due To Tfrc Deficiency

Chromosome 3q29 Duplication Syndrome
  • Chromosome 3q29 Microduplication Syndrome

  • Trisomy 3q29

  • Microduplication 3q29 Syndrome

  • 3q29 Microduplication

  • 3q29 Microduplication Syndrome

  • 3q29 Interstitial Microduplication

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Agammaglobulinemia 4, Autosomal Recessive
  • Agammaglobulinemia 4

  • AGM4

  • Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect

  • B Cell Linker Protein Deficiency

  • B-Cell Linker Protein Deficiency

  • Blnk Deficiency

  • Agammaglobulinemia Autosomal Recessive Due To Blnk Defect

  • Agammaglobulinemia, Type 4, Autosomal Recessive

Lig4 Syndrome
  • Dna Ligase Iv Deficiency

  • Ligase 4 Syndrome

  • LIG4S

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

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
Rattus norvegicus RNF168 RGD RGD:1585168
Bos taurus RNF168 VGNC VGNC:97307
Macaca mulatta RNF168 VGNC VGNC:76840
Felis catus RNF168 VGNC VGNC:101463
Mus musculus RNF168 MGD MGI:1917488
Canis familiaris RNF168 VGNC VGNC:45643
Others RNF168 NCBI