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Aliases for RTFDC1 Gene

Aliases for RTFDC1 Gene

  • Replication Termination Factor 2 Domain Containing 1 2 3 5
  • Replication Termination Factor 2 Domain-Containing Protein 1 3 4
  • C20orf43 3 4
  • Chromosome 20 Open Reading Frame 43 2
  • UPF0549 Protein C20orf43 3
  • Protein RTF2 Homolog 3
  • SHUJUN-3 3
  • HSPC164 3
  • CDAO5 3

External Ids for RTFDC1 Gene

Previous HGNC Symbols for RTFDC1 Gene

  • C20orf43

Previous GeneCards Identifiers for RTFDC1 Gene

  • GC20P055045

Summaries for RTFDC1 Gene

GeneCards Summary for RTFDC1 Gene

RTFDC1 (Replication Termination Factor 2 Domain Containing 1) is a Protein Coding gene.

Gene Wiki entry for RTFDC1 Gene

Additional gene information for RTFDC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTFDC1 Gene

Genomics for RTFDC1 Gene

Regulatory Elements for RTFDC1 Gene

Enhancers for RTFDC1 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
GH20H056408 1.9 FANTOM5 Ensembl ENCODE dbSUPER 29.6 -51.5 -51471 17 HNRNPUL1 PKNOX1 FOXA2 ARNT ZFP64 YBX1 YY1 ZNF766 CBX5 FOS CASS4 RTFDC1 RPL39P CSTF1 ENSG00000280387 FAM210B GCNT7 FAM209B
GH20H056432 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.1 -34.3 -34281 3.8 ZFHX2 EGR1 ZMYM3 ZNF24 MAFK SPI1 EGR2 CASS4 RTFDC1 RPL39P
GH20H056436 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -27.7 -27714 8.4 PKNOX1 FOXA2 TBL1XR1 EBF1 RELA E2F1 GATA3 POLR2A EED SCRT2 CASS4 RTFDC1 FAM209A RPL39P
GH20H056426 1.4 Ensembl ENCODE dbSUPER 12.1 -39.7 -39659 5.8 HDAC1 TBL1XR1 TCF12 GATA2 EGR1 FOS ETV6 CREM EGR2 SMARCA5 CASS4 RTFDC1 RPL39P FAM209A FAM210B
GH20H056460 0.8 ENCODE dbSUPER 15.6 -7.6 -7551 1.5 CTBP1 RFX1 FOS BMI1 ZBTB40 ATF2 RTFDC1 CASS4 RPL39P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RTFDC1 on UCSC Golden Path with GeneCards custom track

Promoters for RTFDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for RTFDC1 Gene

Genomic Locations for RTFDC1 Gene
50,865 bases
Plus strand

Genomic View for RTFDC1 Gene

Genes around RTFDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTFDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTFDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTFDC1 Gene

Proteins for RTFDC1 Gene

  • Protein details for RTFDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein RTF2 homolog
    Protein Accession:
    Secondary Accessions:
    • E1P5Z9
    • Q9BYL7
    • Q9HCV9
    • Q9NX29
    • Q9NZZ8
    • Q9P002
    • Q9UHW3

    Protein attributes for RTFDC1 Gene

    306 amino acids
    Molecular mass:
    33887 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RTFDC1 Gene

Post-translational modifications for RTFDC1 Gene

  • Ubiquitination at Lys59
  • Modification sites at PhosphoSitePlus

Other Protein References for RTFDC1 Gene

No data available for DME Specific Peptides for RTFDC1 Gene

Domains & Families for RTFDC1 Gene

Gene Families for RTFDC1 Gene

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

Protein Domains for RTFDC1 Gene

Suggested Antigen Peptide Sequences for RTFDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the rtf2 family.
  • Belongs to the rtf2 family.
genes like me logo Genes that share domains with RTFDC1: view

Function for RTFDC1 Gene

Phenotypes From GWAS Catalog for RTFDC1 Gene

Gene Ontology (GO) - Molecular Function for RTFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with RTFDC1: view

Phenotypes for RTFDC1 Gene

genes like me logo Genes that share phenotypes with RTFDC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RTFDC1 Gene

Localization for RTFDC1 Gene

Subcellular locations from

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 RTFDC1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RTFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IBA,IEA --
genes like me logo Genes that share ontologies with RTFDC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RTFDC1 Gene

Pathways & Interactions for RTFDC1 Gene

SuperPathways for RTFDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0071171 site-specific DNA replication termination at RTS1 barrier IBA --
GO:1902979 mitotic DNA replication termination IEA --
genes like me logo Genes that share ontologies with RTFDC1: view

No data available for Pathways by source and SIGNOR curated interactions for RTFDC1 Gene

Drugs & Compounds for RTFDC1 Gene

No Compound Related Data Available

Transcripts for RTFDC1 Gene

Unigene Clusters for RTFDC1 Gene

Replication termination factor 2 domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RTFDC1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: -
SP2: - - - - -
SP3: -

Relevant External Links for RTFDC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RTFDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RTFDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RTFDC1 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for RTFDC1 Gene

This gene is overexpressed in Breast (23.1), Adrenal (12.8), and Peripheral blood mononuclear cells (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RTFDC1 Gene

Protein tissue co-expression partners for RTFDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RTFDC1 Gene:


SOURCE GeneReport for Unigene cluster for RTFDC1 Gene:


Evidence on tissue expression from TISSUES for RTFDC1 Gene

  • Nervous system(4.6)
  • Blood(4.4)
  • Adrenal gland(4.3)
  • Skin(3.6)
  • Lung(3.2)
  • Intestine(2.9)
genes like me logo Genes that share expression patterns with RTFDC1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RTFDC1 Gene

Orthologs for RTFDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RTFDC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RTFDC1 33 34
  • 99.24 (n)
(Bos Taurus)
Mammalia RTFDC1 33 34
  • 89.97 (n)
(Canis familiaris)
Mammalia RTFDC1 33 34
  • 88.85 (n)
(Mus musculus)
Mammalia Rtfdc1 33 16 34
  • 84.1 (n)
(Rattus norvegicus)
Mammalia Rtfdc1 33
  • 83.77 (n)
(Monodelphis domestica)
Mammalia RTFDC1 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia RTFDC1 34
  • 59 (a)
(Gallus gallus)
Aves RTFDC1 34
  • 69 (a)
C20H20ORF43 33
  • 67.98 (n)
(Anolis carolinensis)
Reptilia RTFDC1 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rtfdc1 33
  • 68.11 (n)
Str.6685 33
African clawed frog
(Xenopus laevis)
Amphibia MGC64388 33
(Danio rerio)
Actinopterygii rtfdc1 33 34
  • 63.05 (n)
wufd99e08 33
fruit fly
(Drosophila melanogaster)
Insecta CG6443 33 34
  • 51.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010176 33
  • 50.58 (n)
(Caenorhabditis elegans)
Secernentea C01A2.5 33 34
  • 49.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4832 34
  • 37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2260 33
Species where no ortholog for RTFDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for RTFDC1 Gene

Gene Tree for RTFDC1 (if available)
Gene Tree for RTFDC1 (if available)

Paralogs for RTFDC1 Gene

No data available for Paralogs for RTFDC1 Gene

Variants for RTFDC1 Gene

Sequence variations from dbSNP and Humsavar for RTFDC1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000143480 -- 56,492,244(+) AGCTA(A/G)TTTTT intron-variant
rs1000220069 -- 56,489,307(+) GATCC(A/C)CCCGC intron-variant
rs1000233454 -- 56,480,694(+) AGGCC(A/G)TTGTA intron-variant
rs1000319060 -- 56,512,968(+) CTCCC(A/G)TAAGC intron-variant
rs1000326944 -- 56,491,566(+) CGGTT(C/G)AGTCT intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for RTFDC1 Gene

Variant ID Type Subtype PubMed ID
dgv787e214 CNV gain 21293372
esv2722575 CNV deletion 23290073
esv29810 CNV gain 19812545
esv3646189 CNV loss 21293372
nsv1056574 CNV gain 25217958
nsv525425 CNV gain 19592680
nsv834013 CNV gain 17160897
nsv834015 CNV loss 17160897

Variation tolerance for RTFDC1 Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RTFDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTFDC1 Gene

Disorders for RTFDC1 Gene

Relevant External Links for RTFDC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for RTFDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RTFDC1 Gene

Publications for RTFDC1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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 60
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 60
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 60

Products for RTFDC1 Gene

Sources for RTFDC1 Gene

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