1. Gene
  2. RNF168 - ring finger protein 168 Gene

RNF168 - ring finger protein 168 Gene

Homo sapiens

Also known as RIDL; hRNF168

Gene ID: 165918 | Gene type: protein coding

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 Reference
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