Aliases for RFPL2 Gene

Aliases for RFPL2 Gene

  • Ret Finger Protein Like 2 2 3 5
  • RNF79 2 3 4
  • Ret Finger Protein-Like 2 3 4
  • RING Finger Protein 79 3 4
  • RFPL2 5

External Ids for RFPL2 Gene

Previous GeneCards Identifiers for RFPL2 Gene

  • GC22M029282
  • GC22M030910
  • GC22M032586
  • GC22M015544

Summaries for RFPL2 Gene

GeneCards Summary for RFPL2 Gene

RFPL2 (Ret Finger Protein Like 2) is a Protein Coding gene. Diseases associated with RFPL2 include Epilepsy, Familial Focal, With Variable Foci 1. An important paralog of this gene is RFPL3.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFPL2 Gene

Genomics for RFPL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RFPL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J032202 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 255.2 +2.0 2045 0.9 ZNF654 ZIC2 ZBTB10 YY1 ZNF341 CTCF KLF9 RAD21 SMC3 HNF4A RFPL2 IGLCOR22-1 C22orf42
GH22J032204 Promoter 1.3 EPDnew Ensembl 250.7 +0.1 100 2.2 KLF9 ZNF341 GABPA SP2 SAP130 TEAD3 FOSL2 DRAP1 ZSCAN5A ZBTB48 RFPL2 SLC5A4-AS1 CPSF1P1 IGLCOR22-1 C22orf42
GH22J032206 Promoter/Enhancer 1 Ensembl ENCODE 256.7 -2.0 -1969 0.3 ZNF654 ZNF580 CTCF RAD21 SMC3 YY1 HNF4A ZNF133 SP1 ZNF143 RFPL2 SLC5A4-AS1 CPSF1P1 RFPL3
GH22J032042 Promoter/Enhancer 1.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.5 +161.0 160965 3.1 REST SLC5A1 HSALNG0135010 NONHSAG033737.2 RFPL2 RFPL3 SLC5A4 lnc-YWHAH-6 HSALNG0135007-001 lnc-C22orf42-2 C22orf42
GH22J031926 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +278.0 278000 0.8 ZNF341 RFX5 NFYC RFX1 GATA2 RAD21 POLR2A BMI1 RFX3 LOC105372998 HSALNG0135002 RFPL2 RNU6-201P DEPDC5 YWHAH EIF4ENIF1 piR-57461-139 YWHAH-AS1 ENSG00000285404
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RFPL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RFPL2

Top Transcription factor binding sites by QIAGEN in the RFPL2 gene promoter:
  • CUTL1
  • NRSF form 1
  • POU2F1
  • POU2F1a
  • ZID

Genomic Locations for RFPL2 Gene

Latest Assembly
chr22:32,190,435-32,205,001
(GRCh38/hg38)
Size:
14,567 bases
Orientation:
Minus strand

Previous Assembly
chr22:32,586,422-32,600,836
(GRCh37/hg19 by Entrez Gene)
Size:
14,415 bases
Orientation:
Minus strand

chr22:32,586,422-32,600,718
(GRCh37/hg19 by Ensembl)
Size:
14,297 bases
Orientation:
Minus strand

Genomic View for RFPL2 Gene

Genes around RFPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFPL2 Gene

Proteins for RFPL2 Gene

  • Protein details for RFPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75678-RFPL2_HUMAN
    Recommended name:
    Ret finger protein-like 2
    Protein Accession:
    O75678

    Protein attributes for RFPL2 Gene

    Size:
    378 amino acids
    Molecular mass:
    42077 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH51910.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAA09045.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAG30449.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 3]: May be due to intron retention.

    Alternative splice isoforms for RFPL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFPL2 Gene

Post-translational modifications for RFPL2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for RFPL2 Gene

Domains & Families for RFPL2 Gene

Gene Families for RFPL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RFPL2 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Butyrophylin C-terminal DUF signature
  • SPRY-associated domain

Suggested Antigen Peptide Sequences for RFPL2 Gene

GenScript: Design optimal peptide antigens:
  • Ret finger protein-like 2 (Q6NSX6_HUMAN)
  • RING finger protein 79 (RFPL2_HUMAN)
genes like me logo Genes that share domains with RFPL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RFPL2 Gene

Function for RFPL2 Gene

Molecular function for RFPL2 Gene

GENATLAS Biochemistry:
ret finger protein-like 2,B box family

Phenotypes From GWAS Catalog for RFPL2 Gene

Gene Ontology (GO) - Molecular Function for RFPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RFPL2: view
genes like me logo Genes that share phenotypes with RFPL2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFPL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RFPL2 Gene

Localization for RFPL2 Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RFPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005654 nucleoplasm IBA 21873635
genes like me logo Genes that share ontologies with RFPL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for RFPL2 Gene

Pathways & Interactions for RFPL2 Gene

PathCards logo

SuperPathways for RFPL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RFPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0045893 positive regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with RFPL2: view

No data available for Pathways by source and SIGNOR curated interactions for RFPL2 Gene

Drugs & Compounds for RFPL2 Gene

No Compound Related Data Available

Transcripts for RFPL2 Gene

mRNA/cDNA for RFPL2 Gene

9 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFPL2

Alternative Splicing Database (ASD) splice patterns (SP) for RFPL2 Gene

No ASD Table

Relevant External Links for RFPL2 Gene

GeneLoc Exon Structure for
RFPL2

Expression for RFPL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RFPL2 Gene

mRNA differential expression in normal tissues according to GTEx for RFPL2 Gene

This gene is overexpressed in Brain - Cortex (x7.6), Brain - Frontal Cortex (BA9) (x7.5), Prostate (x4.6), and Brain - Putamen (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for RFPL2 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RFPL2 Gene



Protein tissue co-expression partners for RFPL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RFPL2

SOURCE GeneReport for Unigene cluster for RFPL2 Gene:

Hs.157427

mRNA Expression by UniProt/SwissProt for RFPL2 Gene:

O75678-RFPL2_HUMAN
Tissue specificity: Seems to be expressed in prostate and less abundantly in adult brain, fetal liver, and fetal kidney.
genes like me logo Genes that share expression patterns with RFPL2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFPL2 Gene

Orthologs for RFPL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RFPL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RFPL2 29
  • 98.24 (n)
-- 30
  • 80 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 55 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 38 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 36 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 19 (a)
ManyToMany
Species where no ortholog for RFPL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Zebrafish (Danio rerio)

Evolution for RFPL2 Gene

ENSEMBL:
Gene Tree for RFPL2 (if available)
TreeFam:
Gene Tree for RFPL2 (if available)
Alliance of Genome Resources:
Additional Orthologs for RFPL2

Paralogs for RFPL2 Gene

(10) SIMAP similar genes for RFPL2 Gene using alignment to 2 proteins:

  • RFPL2_HUMAN
  • Q6NSX6_HUMAN

Pseudogenes.org Pseudogenes for RFPL2 Gene

genes like me logo Genes that share paralogs with RFPL2: view

Variants for RFPL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RFPL2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs136467 -- p.Val348Ile
rs136468 -- p.Arg341Cys
rs136470 -- p.Ser324Gly
rs136472 -- p.Thr290Ser
rs136478 -- p.Cys141Tyr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RFPL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RFPL2 Gene

Variant ID Type Subtype PubMed ID
esv2422247 CNV duplication 17116639
esv3568364 CNV loss 25503493
esv3575476 CNV gain 25503493
esv3893474 CNV gain 25118596
nsv3597 CNV deletion 18451855
nsv459874 CNV gain 19166990
nsv588895 CNV gain 21841781
nsv834177 CNV gain 17160897
nsv834178 CNV loss 17160897
nsv953071 CNV deletion 24416366
nsv966105 CNV duplication 23825009

Variation tolerance for RFPL2 Gene

Residual Variation Intolerance Score: 95.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.82; 97.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFPL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFPL2
Leiden Open Variation Database (LOVD)
RFPL2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFPL2 Gene

Disorders for RFPL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RFPL2 Gene - From: CVR

Disorder Aliases PubMed IDs
epilepsy, familial focal, with variable foci 1
  • ffevf1
- elite association - COSMIC cancer census association via MalaCards
Search RFPL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RFPL2

genes like me logo Genes that share disorders with RFPL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RFPL2 Gene

Publications for RFPL2 Gene

  1. Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. (PMID: 10508838) Seroussi E … Dumanski JP (Genome research 1999) 2 3 4 22
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

Products for RFPL2 Gene

Sources for RFPL2 Gene