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Aliases for RNF6 Gene

Aliases for RNF6 Gene

  • Ring Finger Protein 6 2 3 5
  • RING-Type E3 Ubiquitin Transferase RNF6 4
  • Ring Finger Protein (C3H2C3 Type) 6 2
  • RING-H2 Protein RNF-6 2
  • EC 2.3.2.27 4
  • SPG2 4

External Ids for RNF6 Gene

Previous GeneCards Identifiers for RNF6 Gene

  • GC13M024766
  • GC13M020766
  • GC13M025636
  • GC13M024584
  • GC13M024504
  • GC13M025604
  • GC13M026706
  • GC13M007604

Summaries for RNF6 Gene

Entrez Gene Summary for RNF6 Gene

  • The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNF6 Gene

RNF6 (Ring Finger Protein 6) is a Protein Coding gene. Diseases associated with RNF6 include Esophageal Cancer. Among its related pathways are Class I MHC mediated antigen processing and presentation and Androgen receptor signaling pathway. GO annotations related to this gene include ligase activity and androgen receptor binding. An important paralog of this gene is RLIM.

UniProtKB/Swiss-Prot for RNF6 Gene

  • E3 ubiquitin-protein ligase mediating Lys-48-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates Lys-6 and Lys-27-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF6 Gene

Genomics for RNF6 Gene

Regulatory Elements for RNF6 Gene

Enhancers for RNF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G026185 1.6 FANTOM5 Ensembl ENCODE 11.7 +35.8 35819 2.6 PKNOX1 ATF1 ARID4B SIN3A DMAP1 FEZF1 ZNF48 YY1 SLC30A9 ZNF766 RNF6 WASF3 ATP8A2P3 ENSG00000277368
GH13G026253 1.1 ENCODE 11.7 -32.5 -32486 3.0 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 RNF6 CDK8 ENSG00000278413
GH13G026497 0.9 ENCODE dbSUPER 10.1 -276.0 -275986 2.2 GTF2F1 CTCF MXI1 FOXA2 RAD21 EP300 JUND HSF1 NFE2 MAFK RNF6 WASF3 GC13P026404
GH13G026219 1.1 ENCODE 7.5 +0.7 741 3.6 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 RNF6 ENSG00000277368 ATP8A2P3
GH13G026503 0.8 Ensembl ENCODE 10.1 -280.5 -280542 0.2 CTCF RFX1 BHLHE40 ZIC2 RAD21 RNF6 WASF3 GC13P026404
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF6 on UCSC Golden Path with GeneCards custom track

Promoters for RNF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000060209 659 2201 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for RNF6 Gene

Chromosome:
13
Start:
26,132,115 bp from pter
End:
26,222,559 bp from pter
Size:
90,445 bases
Orientation:
Minus strand

Genomic View for RNF6 Gene

Genes around RNF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF6 Gene

Proteins for RNF6 Gene

  • Protein details for RNF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y252-RNF6_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF6
    Protein Accession:
    Q9Y252
    Secondary Accessions:
    • B4DDP0
    • Q5W0H0
    • Q9BZP5
    • Q9UF41

    Protein attributes for RNF6 Gene

    Size:
    685 amino acids
    Molecular mass:
    78091 Da
    Quaternary structure:
    • Interacts with LIMK1 (By similarity). Interacts with AR.
    Miscellaneous:
    • Required for prostate tumor cell growth.

    Alternative splice isoforms for RNF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF6 Gene

Post-translational modifications for RNF6 Gene

  • Ubiquitination at Lys608
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF6 Gene

Domains & Families for RNF6 Gene

Gene Families for RNF6 Gene

Protein Domains for RNF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y252

UniProtKB/Swiss-Prot:

RNF6_HUMAN :
  • Belongs to the RNF12 family.
Family:
  • Belongs to the RNF12 family.
genes like me logo Genes that share domains with RNF6: view

Function for RNF6 Gene

Molecular function for RNF6 Gene

GENATLAS Biochemistry:
RING finger protein 6,not disrupted in the translocation t(4;13) associated with myeloproliferative disorders
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase mediating Lys-48-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates Lys-6 and Lys-27-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator.

Enzyme Numbers (IUBMB) for RNF6 Gene

Gene Ontology (GO) - Molecular Function for RNF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004842 ubiquitin-protein transferase activity IMP 19345326
GO:0005515 protein binding IPI 19345326
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with RNF6: view
genes like me logo Genes that share phenotypes with RNF6: view

Human Phenotype Ontology for RNF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RNF6 Gene

Localization for RNF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF6 Gene

Nucleus. Cytoplasm. Cell projection, axon. Nucleus, PML body. Note=Localizes to the PML nuclear bodies in Sertoli cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF6 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RNF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19345326
GO:0005737 cytoplasm IDA,IEA 19345326
GO:0016605 PML body IEA --
GO:0030424 axon ISS --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with RNF6: view

Pathways & Interactions for RNF6 Gene

genes like me logo Genes that share pathways with RNF6: view

UniProtKB/Swiss-Prot Q9Y252-RNF6_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IMP 19345326
GO:0006511 ubiquitin-dependent protein catabolic process ISS --
GO:0016567 protein ubiquitination IEA --
GO:0030517 negative regulation of axon extension ISS --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with RNF6: view

No data available for SIGNOR curated interactions for RNF6 Gene

Drugs & Compounds for RNF6 Gene

No Compound Related Data Available

Transcripts for RNF6 Gene

Unigene Clusters for RNF6 Gene

Ring finger protein (C3H2C3 type) 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - -
SP6: - - -
SP7: - -
SP8: - - - - - -
SP9: - - - - - - - -
SP10: - - -
SP11: -

Relevant External Links for RNF6 Gene

GeneLoc Exon Structure for
RNF6
ECgene alternative splicing isoforms for
RNF6

Expression for RNF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF6 Gene

Protein differential expression in normal tissues from HIPED for RNF6 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF6 Gene



Protein tissue co-expression partners for RNF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF6 Gene:

RNF6

SOURCE GeneReport for Unigene cluster for RNF6 Gene:

Hs.136885

mRNA Expression by UniProt/SwissProt for RNF6 Gene:

Q9Y252-RNF6_HUMAN
Tissue specificity: Weakly expressed in peripheral blood, spleen, prostate, testis and ovary. According to PubMed:18368307, it is preferentially expressed in testis and ovary and hardly detected in other tissues.

Evidence on tissue expression from TISSUES for RNF6 Gene

  • Nervous system(4.8)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • skin
genes like me logo Genes that share expression patterns with RNF6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RNF6 Gene

Orthologs for RNF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF6 35 34
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNF6 35 34
  • 91.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf6 16 35 34
  • 78.9 (n)
rat
(Rattus norvegicus)
Mammalia Rnf6 34
  • 76.93 (n)
cow
(Bos Taurus)
Mammalia RNF6 35 34
  • 74.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF6 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF6 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF6 35 34
  • 66.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF6 35
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rnf6 35
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mura 35
  • 10 (a)
OneToMany
Species where no ortholog for RNF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF6 Gene

ENSEMBL:
Gene Tree for RNF6 (if available)
TreeFam:
Gene Tree for RNF6 (if available)

Paralogs for RNF6 Gene

Paralogs for RNF6 Gene

(2) SIMAP similar genes for RNF6 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for RNF6 Gene

genes like me logo Genes that share paralogs with RNF6: view

Variants for RNF6 Gene

Sequence variations from dbSNP and Humsavar for RNF6 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs121434522 Pathogenic 26,215,577(-) CCCTA(A/G)AGAAA reference, missense
rs121434523 Pathogenic 26,215,158(-) GGGGA(A/G)CAGCT intron-variant, reference, missense
rs121434524 Pathogenic 26,215,151(-) AGCTG(A/G)CATTC intron-variant, reference, missense
rs1000012585 -- 26,147,209(+) ATTCA(A/T)GTATT intron-variant
rs1000052605 -- 26,185,519(+) AGGTG(A/G)GCGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF6 Gene

Variant ID Type Subtype PubMed ID
esv2469087 CNV deletion 19546169

Variation tolerance for RNF6 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF6 Gene

Disorders for RNF6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF6 Gene - From: OMIM, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
esophageal cancer
  • esophageal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search RNF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RNF6_HUMAN
  • Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269 PubMed:12154016}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for RNF6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF6
genes like me logo Genes that share disorders with RNF6: view

No data available for Genatlas for RNF6 Gene

Publications for RNF6 Gene

  1. Cloning and characterization of RNF6, a novel RING finger gene mapping to 13q12. (PMID: 10331950) Macdonald D.H.C. … Cross N.C.P. (Genomics 1999) 2 3 4 64
  2. Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination. (PMID: 19345326) Xu K. … Qiu Y. (Cancer Cell 2009) 3 4 64
  3. Cloning and identification of a novel RNF6 transcriptional splice variant Spg2 in human development. (PMID: 18368307) Zhu L. … Ma J. (Sci. China, Ser. C, Life Sci. 2008) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Gene control in germinal differentiation: RNF6, a transcription regulatory protein in the mouse sertoli cell. (PMID: 11971979) Lopez P. … Rassoulzadegan M. (Mol. Cell. Biol. 2002) 3 22 64

Products for RNF6 Gene

Sources for RNF6 Gene

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