1. Gene
  2. RNF8 - ring finger protein 8 Gene

RNF8 - ring finger protein 8 Gene

Homo sapiens

Also known as hRNF8

Gene ID: 9025 | Gene type: protein coding

About RNF8

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:37,353,983-37,394,734 (from NCBI)

This gene has 8 transcripts (splice variants) and 192 orthologues. Ubiquitous expression in testis (RPKM 6.4), brain (RPKM 2.8) and 24 other tissues.

Summary

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

RNF8 Products(2)

mRNA Protein Name
NM_003958.4 NP_003949.1 E3 ubiquitin-protein ligase RNF8 isoform 1
NM_183078.3 NP_898901.1 E3 ubiquitin-protein ligase RNF8 isoform 2

RNF8 Protein Structure

FHA

FHA: FHA domain (38 - 109)

zf-RING_2

zf-RING_2: Ring finger domain (402 - 441)

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  • 485 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RNF8

C3HC4-type zinc finger protein

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

Dyskeratosis Congenita, Autosomal Recessive 3

DKCB3

Autosomal Recessive Dyskeratosis Congenita 3

Dyskeratosis Congenita, Autosomal Recessive, 3

Dyskeratosis Congenita, Autosomal Recessive, Type 3

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

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

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

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 RNF8 RGD RGD:1308035
Mus musculus RNF8 MGD MGI:1929069
Felis catus RNF8 VGNC VGNC:102507
Macaca mulatta RNF8 VGNC VGNC:76708
Canis familiaris RNF8 VGNC VGNC:45676
Bos taurus RNF8 VGNC VGNC:34073
Others RNF8 NCBI