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Aliases for RFC2 Gene

Aliases for RFC2 Gene

  • Replication Factor C Subunit 2 2 3 5
  • Replication Factor C (Activator 1) 2, 40kDa 2 3
  • Activator 1 Subunit 2 3 4
  • RF-C 40 KDa Subunit 3 4
  • A1 40 KDa Subunit 3 4
  • RFC40 3 4
  • Replication Factor C (Activator 1) 2 (40kD) 2
  • Replication Factor C 40 KDa Subunit 4
  • Activator 1 40 KDa Subunit 4
  • Activator 1 2

External Ids for RFC2 Gene

Previous GeneCards Identifiers for RFC2 Gene

  • GC07M072286
  • GC07M073044
  • GC07M073057
  • GC07M073090
  • GC07M073283
  • GC07M073645
  • GC07M069527

Summaries for RFC2 Gene

Entrez Gene Summary for RFC2 Gene

  • This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]

GeneCards Summary for RFC2 Gene

RFC2 (Replication Factor C Subunit 2) is a Protein Coding gene. Diseases associated with RFC2 include Williams-Beuren Syndrome and Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1. Among its related pathways are DNA Double-Strand Break Repair and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. GO annotations related to this gene include magnesium chelatase activity and DNA clamp loader activity.

UniProtKB/Swiss-Prot for RFC2 Gene

  • The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity).

Gene Wiki entry for RFC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFC2 Gene

Genomics for RFC2 Gene

Regulatory Elements for RFC2 Gene

Enhancers for RFC2 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
GH07G074269 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.7 -17.3 -17263 4.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 FOS POM121B RFC2 MIR590 GTF2IRD2P1 LAT2 LIMK1 GC07M074256 CLIP2
GH07G074252 1.4 ENCODE dbSUPER 19.7 -0.7 -722 4.4 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 GLIS1 RFC2 POM121B MIR590 GTF2IRD2P1 GC07P074254 GC07M074256
GH07G074278 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -25.6 -25605 3.3 HDGF PKNOX1 ATF1 ARID4B SIN3A BRCA1 ZNF121 ZNF548 FOS ZNF263 MIR590 POM121B RFC2 BAZ1B GTF2IRD2P1 GTF2IRD2 LAT2 DNAJC30 TRIM50 CLIP2
GH07G074324 1.6 FANTOM5 ENCODE dbSUPER 13.1 -70.5 -70485 1.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 CLIP2 RFC2 MIR590 GC07P074342
GH07G074171 1.1 ENCODE 12.6 +79.6 79610 6.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 LIMK1 RFC2 ABHD11-AS1 POM121B MIR590 EIF4H LAT2 GC07M074172 GC07P074192
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFC2 on UCSC Golden Path with GeneCards custom track

Promoters for RFC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213598 58 1601 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1

Genomic Location for RFC2 Gene

Chromosome:
7
Start:
74,231,485 bp from pter
End:
74,254,458 bp from pter
Size:
22,974 bases
Orientation:
Minus strand

Genomic View for RFC2 Gene

Genes around RFC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFC2 Gene

Proteins for RFC2 Gene

  • Protein details for RFC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35250-RFC2_HUMAN
    Recommended name:
    Replication factor C subunit 2
    Protein Accession:
    P35250
    Secondary Accessions:
    • B5BU07
    • D3DXG3
    • P32846
    • Q9BU93

    Protein attributes for RFC2 Gene

    Size:
    354 amino acids
    Molecular mass:
    39157 Da
    Quaternary structure:
    • Heterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17. The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by PCNA. RFC2 also interacts with PRKAR1A; the complex may be involved in cell survival (PubMed:15655353). Interacts with DDX11 (PubMed:18499658).

    Alternative splice isoforms for RFC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFC2 Gene

Post-translational modifications for RFC2 Gene

  • Ubiquitination at Lys82, isoforms=2176, and Lys192
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RFC2 Gene

Domains & Families for RFC2 Gene

Gene Families for RFC2 Gene

Graphical View of Domain Structure for InterPro Entry

P35250

UniProtKB/Swiss-Prot:

RFC2_HUMAN :
  • Belongs to the activator 1 small subunits family.
Family:
  • Belongs to the activator 1 small subunits family.
genes like me logo Genes that share domains with RFC2: view

Function for RFC2 Gene

Molecular function for RFC2 Gene

GENATLAS Biochemistry:
replication factor C2,component of complex A-1,DNA polymerase accessory protein "clamp loader",ATP dependent,required to assemble PCNA and polymerase delta on the DNA template
UniProtKB/Swiss-Prot Function:
The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity).

Gene Ontology (GO) - Molecular Function for RFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003689 contributes_to DNA clamp loader activity IDA 12930902
GO:0005515 protein binding IPI 9488738
GO:0005524 ATP binding IEA,TAS --
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with RFC2: view
genes like me logo Genes that share phenotypes with RFC2: view

Human Phenotype Ontology for RFC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RFC2 Gene

miRTarBase miRNAs that target RFC2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RFC2 Gene

Localization for RFC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFC2 Gene

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 RFC2 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005663 DNA replication factor C complex IDA 9488738
GO:0031390 Ctf18 RFC-like complex IDA 12930902
genes like me logo Genes that share ontologies with RFC2: view

Pathways & Interactions for RFC2 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
2 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
3 DNA Double-Strand Break Repair
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 Homologous DNA Pairing and Strand Exchange
genes like me logo Genes that share pathways with RFC2: view

Pathways by source for RFC2 Gene

Gene Ontology (GO) - Biological Process for RFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination TAS --
GO:0006260 DNA replication IEA,TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion TAS --
GO:0006297 nucleotide-excision repair, DNA gap filling TAS --
genes like me logo Genes that share ontologies with RFC2: view

No data available for SIGNOR curated interactions for RFC2 Gene

Drugs & Compounds for RFC2 Gene

(1) Drugs for RFC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RFC2: view

Transcripts for RFC2 Gene

mRNA/cDNA for RFC2 Gene

Unigene Clusters for RFC2 Gene

Replication factor C (activator 1) 2, 40kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: - - - -
SP2: -
SP3:
SP4: - -
SP5: -
SP6: -

Relevant External Links for RFC2 Gene

GeneLoc Exon Structure for
RFC2
ECgene alternative splicing isoforms for
RFC2

Expression for RFC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RFC2 Gene

Protein differential expression in normal tissues from HIPED for RFC2 Gene

This gene is overexpressed in Lung (10.7), Bone (10.3), and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RFC2 Gene



Protein tissue co-expression partners for RFC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RFC2 Gene:

RFC2

SOURCE GeneReport for Unigene cluster for RFC2 Gene:

Hs.647062

Evidence on tissue expression from TISSUES for RFC2 Gene

  • Liver(4.2)
  • Nervous system(3.8)
  • Skin(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RFC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RFC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RFC2 Gene

Orthologs for RFC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFC2 34 35
  • 99.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RFC2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFC2 34 35
  • 87.78 (n)
cow
(Bos Taurus)
Mammalia RFC2 34 35
  • 86.84 (n)
mouse
(Mus musculus)
Mammalia Rfc2 34 16 35
  • 84.43 (n)
rat
(Rattus norvegicus)
Mammalia Rfc2 34
  • 84.43 (n)
oppossum
(Monodelphis domestica)
Mammalia RFC2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 86 (a)
OneToMany
RFC2 34 35
  • 77.29 (n)
lizard
(Anolis carolinensis)
Reptilia RFC2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfc2 34
  • 76.65 (n)
Str.11896 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3920 34
zebrafish
(Danio rerio)
Actinopterygii rfc2 34 35
  • 75.07 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4413 34
fruit fly
(Drosophila melanogaster)
Insecta RfC40 36
  • 76 (a)
RfC4 34 35
  • 68.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007477 34
  • 64.81 (n)
worm
(Caenorhabditis elegans)
Secernentea rfc-2 36 34 35
  • 60.06 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR111W 34
  • 62.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03718g 34
  • 60.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFC4 34 35 37
  • 59.07 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RFC2 34
  • 63.46 (n)
rice
(Oryza sativa)
Liliopsida Os04g0569000 34
  • 63.66 (n)
Os.13010 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 74 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU10467 34
  • 61.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rfc4 34
  • 60.8 (n)
Species where no ortholog for RFC2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RFC2 Gene

ENSEMBL:
Gene Tree for RFC2 (if available)
TreeFam:
Gene Tree for RFC2 (if available)

Paralogs for RFC2 Gene

Pseudogenes.org Pseudogenes for RFC2 Gene

genes like me logo Genes that share paralogs with RFC2: view

No data available for Paralogs for RFC2 Gene

Variants for RFC2 Gene

Sequence variations from dbSNP and Humsavar for RFC2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000034531 -- 74,247,554(+) AGAAT(C/T)GCTTG intron-variant
rs1000134831 -- 74,254,311(+) CTTGC(C/T)GAAGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000217670 -- 74,254,077(+) CGCTC(A/G)CAGAG intron-variant
rs1001141045 -- 74,234,880(+) AGCCA(A/C)ATCAA intron-variant
rs1001220356 -- 74,255,119(+) CCAGC(C/T)TGGGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RFC2 Gene

Variant ID Type Subtype PubMed ID
esv3613698 CNV loss 21293372
esv3613705 CNV loss 21293372
nsv464563 CNV gain 19166990
nsv607480 CNV gain 21841781
nsv607481 CNV loss 21841781
nsv819656 CNV loss 19587683
nsv831030 CNV gain 17160897

Variation tolerance for RFC2 Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFC2 Gene

Human Gene Mutation Database (HGMD)
RFC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFC2 Gene

Disorders for RFC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RFC2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
blepharophimosis, epicanthus inversus, and ptosis, type 1
  • blepharophimosis, epicanthus inversus, and ptosis, type 2
- elite association - COSMIC cancer census association via MalaCards
Search RFC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RFC2_HUMAN
  • Note=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11003705). {ECO:0000269 PubMed:11003705}.

Relevant External Links for RFC2

Genetic Association Database (GAD)
RFC2
Human Genome Epidemiology (HuGE) Navigator
RFC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFC2
genes like me logo Genes that share disorders with RFC2: view

No data available for Genatlas for RFC2 Gene

Publications for RFC2 Gene

  1. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. (PMID: 11003705) Martindale D.W. … Koop B.F. (Mamm. Genome 2000) 3 4 22 64
  2. Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells. (PMID: 1313560) Chen M. … Hurwitz J. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 64
  3. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PMID: 20226869) Thyagarajan B. … Arora M. (Biol. Blood Marrow Transplant. 2010) 3 46 64
  4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 46 64
  5. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PMID: 20574454) Arora M. … Thyagarajan B. (Leukemia 2010) 3 46 64

Products for RFC2 Gene

Sources for RFC2 Gene

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