RAD51C Gene (Protein Coding)

RAD51 Paralog C

GC17P058692
GIFtS:
45
This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fan... See more...

Aliases for RAD51C Gene

Aliases for RAD51C Gene

  • RAD51 Paralog C 2 3 5
  • DNA Repair Protein RAD51 Homolog 3 3 4
  • RAD51-Like Protein 2 3 4
  • RAD51L2 3 4
  • R51H3 3 4
  • RAD51 (S. Cerevisiae) Homolog C 2
  • RAD51 Homolog C (S. Cerevisiae) 2
  • Yeast RAD51 Homolog 3 3
  • RAD51 Homolog C 4
  • BROVCA3 3
  • FANCO 3

External Ids for RAD51C Gene

Previous GeneCards Identifiers for RAD51C Gene

  • GC17P056517
  • GC17P059251
  • GC17P057112
  • GC17P057244
  • GC17P054124
  • GC17P056769
  • GC17P052130

Summaries for RAD51C Gene

Entrez Gene Summary for RAD51C Gene

  • This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for RAD51C Gene

RAD51C (RAD51 Paralog C) is a Protein Coding gene. Diseases associated with RAD51C include Breast-Ovarian Cancer, Familial 3 and Fanconi Anemia, Complementation Group O. Among its related pathways are Meiosis and Resolution of D-loop Structures through Holliday Junction Intermediates. Gene Ontology (GO) annotations related to this gene include nucleotide binding and four-way junction DNA binding. An important paralog of this gene is RAD51B.

UniProtKB/Swiss-Prot Summary for RAD51C Gene

  • Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD21 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. Has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis.

Gene Wiki entry for RAD51C Gene

Additional gene information for RAD51C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAD51C Gene

Genomics for RAD51C Gene

GeneHancer (GH) Regulatory Elements for RAD51C Gene

Promoters and enhancers for RAD51C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAD51C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAD51C gene promoter:
  • E47
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta

Genomic Locations for RAD51C Gene

Genomic Locations for RAD51C Gene
chr17:58,692,536-58,735,611
(GRCh38/hg38)
Size:
43,076 bases
Orientation:
Plus strand
chr17:56,769,934-56,811,703
(GRCh37/hg19)
Size:
41,770 bases
Orientation:
Plus strand

Genomic View for RAD51C Gene

Genes around RAD51C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD51C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD51C Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RAD51C Gene

Proteins for RAD51C Gene

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  • Protein details for RAD51C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43502-RA51C_HUMAN
    Recommended name:
    DNA repair protein RAD51 homolog 3
    Protein Accession:
    O43502
    Secondary Accessions:
    • O43503
    • Q3B783

    Protein attributes for RAD51C Gene

    Size:
    376 amino acids
    Molecular mass:
    42190 Da
    Quaternary structure:
    • Part of the Rad21 paralog protein complexes BCDX2 and CX3; the complexes have a ring-like structure arranged into a flat disc around a central channel. The BCDX2 complex consits of RAD51B, RAD51C, RAD51D and XRCC2; the CX3 complex consists of RAD51C and XRCC3. The BCDX2 subcomplex RAD51B:RAD51C interacts with RAD51. Interacts with SWSAP1; involved in homologous recombination repair. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3.

    Alternative splice isoforms for RAD51C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD51C Gene

Protein Expression for RAD51C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RAD51C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAD51C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAD51C Gene

Domains & Families for RAD51C Gene

Gene Families for RAD51C Gene

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

Protein Domains for RAD51C Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAD51C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76539, highly similar to Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 3, mRNA (Q7KZJ0_HUMAN)
  • RAD51-like protein 2 (RA51C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43502

UniProtKB/Swiss-Prot:

RA51C_HUMAN :
  • Belongs to the RecA family. RAD51 subfamily.
Family:
  • Belongs to the RecA family. RAD51 subfamily.
genes like me logo Genes that share domains with RAD51C: view

Function for RAD51C Gene

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  2. CRISPR
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Molecular function for RAD51C Gene

UniProtKB/Swiss-Prot Function:
Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD21 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. Has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis.
UniProtKB/Swiss-Prot Induction:
Stress-induced increase in the mitochondrial levels is seen.
GENATLAS Biochemistry:
yeast (S cerevisiae) RAD51 homolog 3,highly expressed in testis,involved in mitosis and meiotic recombination events

Phenotypes From GWAS Catalog for RAD51C Gene

Gene Ontology (GO) - Molecular Function for RAD51C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000400 contributes_to four-way junction DNA binding IDA,IBA 20207730
GO:0003677 DNA binding TAS,IEA 9469824
GO:0005515 protein binding IPI 9469824
GO:0005524 ATP binding IEA --
GO:0008094 DNA-dependent ATPase activity IEA --
genes like me logo Genes that share ontologies with RAD51C: view
genes like me logo Genes that share phenotypes with RAD51C: view

Human Phenotype Ontology for RAD51C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD51C Gene

MGI Knock Outs for RAD51C:

Animal Model Products

  • Taconic Biosciences Mouse Models for RAD51C

CRISPR Products

miRNA for RAD51C Gene

miRTarBase miRNAs that target RAD51C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAD51C Gene

Localization for RAD51C Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD51C Gene

Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. Note=DNA damage induces an increase in nuclear levels. Accumulates in DNA damage induced nuclear foci or RAD51C foci which is formed during the S or G2 phase of cell cycle. Accumulation at DNA lesions requires the presence of NBN/NBS1, ATM and RPA.

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 RAD51C gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
  • Nucleus (3)
  • Cell Junctions (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAD51C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 12966089
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IDA,IBA 20207730
GO:0005737 cytoplasm IDA,IEA 16215984
GO:0005739 mitochondrion IEA,IDA 20413593
genes like me logo Genes that share ontologies with RAD51C: view

Pathways & Interactions for RAD51C Gene

genes like me logo Genes that share pathways with RAD51C: view

Gene Ontology (GO) - Biological Process for RAD51C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IEA --
GO:0000724 double-strand break repair via homologous recombination IMP 23149936
GO:0006281 DNA repair IEA,IDA 19451272
GO:0006310 DNA recombination IDA,TAS 19451272
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with RAD51C: view

No data available for SIGNOR curated interactions for RAD51C Gene

Drugs & Compounds for RAD51C Gene

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  1. Drug

(3) Drugs for RAD51C Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 48
Poly(ADP-ribose) Polymerase Inhibitors Pharma 554
genes like me logo Genes that share compounds with RAD51C: view

Transcripts for RAD51C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RAD51C Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(181) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD51C Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - -
SP8: - - - -
SP9:
SP10: -
SP11:

Relevant External Links for RAD51C Gene

GeneLoc Exon Structure for
RAD51C
ECgene alternative splicing isoforms for
RAD51C

Expression for RAD51C Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAD51C Gene

mRNA expression in normal human tissues for RAD51C Gene
mRNA expression by GTEx for RAD51C GenemRNA expression by BioGPS for RAD51C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAD51C Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAD51C Gene



Protein tissue co-expression partners for RAD51C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAD51C Gene:

RAD51C

SOURCE GeneReport for Unigene cluster for RAD51C Gene:

Hs.412587

mRNA Expression by UniProt/SwissProt for RAD51C Gene:

O43502-RA51C_HUMAN
Tissue specificity: Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate.

Evidence on tissue expression from TISSUES for RAD51C Gene

  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD51C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RAD51C: view

No data available for mRNA differential expression in normal tissues for RAD51C Gene

Orthologs for RAD51C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD51C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RAD51C 33 32
  • 99.4 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia RAD51C 33 32
  • 91.85 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia RAD51C 33 32
  • 91.3 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rad51c 32
  • 87.76 (n)
mouse
(Mus musculus)
 Mammalia Rad51c 17 33 32
  • 87.67 (n)
oppossum
(Monodelphis domestica)
 Mammalia RAD51C 33
  • 68 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RAD51C 33
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RAD51C 32
  • 71.51 (n)
lizard
(Anolis carolinensis)
 Reptilia RAD51C 33
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rad51c 32
  • 65.08 (n)
Str.18691 32
zebrafish
(Danio rerio)
 Actinopterygii rad51c 33 32
  • 63.35 (n)
 OneToOne
Dr.14386 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2850 32
fruit fly
(Drosophila melanogaster)
 Insecta spn-D 33
  • 28 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DMC1 33
  • 26 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons RAD51C 32
  • 49.9 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0578000 32
  • 49.36 (n)
Species where no ortholog for RAD51C 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAD51C Gene

ENSEMBL:
Gene Tree for RAD51C (if available)
TreeFam:
Gene Tree for RAD51C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAD51C: view image

Paralogs for RAD51C Gene

Paralogs for RAD51C Gene

genes like me logo Genes that share paralogs with RAD51C: view

Variants for RAD51C Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for RAD51C Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000113630 uncertain-significance, Hereditary cancer-predisposing syndrome, Fanconi anemia, complementation group O 58,692,732(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1036386535 likely-benign, Breast-ovarian cancer, familial 3, Fanconi anemia, complementation group O 58,694,916(+) T/C/G intron_variant
rs1057517641 likely-pathogenic, Fanconi anemia, complementation group O, Breast-ovarian cancer, familial 3 58,692,790(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, splice_donor_variant, upstream_transcript_variant
rs1057517644 likely-benign, Fanconi anemia, complementation group O, Breast-ovarian cancer, familial 3, not specified, Hereditary cancer-predisposing syndrome 58,710,004(+) A/G genic_downstream_transcript_variant, intron_variant
rs1057519355 risk-factor, Breast-ovarian cancer, familial 3 58,695,014(+) GG/G 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RAD51C Gene

Variant ID Type Subtype PubMed ID
dgv1489n106 CNV deletion 24896259
dgv1490n106 CNV deletion 24896259
esv1778308 CNV deletion 17803354
esv2664231 CNV deletion 23128226
esv2674642 CNV deletion 23128226
esv2716079 CNV deletion 23290073
esv2758698 CNV gain 17122850
esv3640893 CNV loss 21293372
esv991006 CNV deletion 20482838
nsv1066945 CNV loss 25217958
nsv1134659 CNV deletion 24896259
nsv1150939 CNV deletion 26484159
nsv428347 CNV gain 18775914
nsv833498 CNV loss 17160897

Variation tolerance for RAD51C Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD51C Gene

Human Gene Mutation Database (HGMD)
RAD51C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD51C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD51C Gene

Disorders for RAD51C Gene

MalaCards: The human disease database

(12) MalaCards diseases for RAD51C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
breast-ovarian cancer, familial 3
  • breast-ovarian cancer, familial, susceptibility to, 3
fanconi anemia, complementation group o
  • fanco
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
ovarian cancer
  • ovarian cancer, somatic
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RA51C_HUMAN
  • Fanconi anemia complementation group O (FANCO) [MIM:613390]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:20400963, ECO:0000269 PubMed:24141787}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO:0000269 PubMed:20400964, ECO:0000269 PubMed:21990120, ECO:0000269 PubMed:24141787}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAD51C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAD51C: view

No data available for Genatlas for RAD51C Gene

Publications for RAD51C Gene

  1. Isolation and characterization of RAD51C, a new human member of the RAD51 family of related genes. (PMID: 9469824) Dosanjh MK … Schild D (Nucleic acids research 1998) 2 3 4 23 56
  2. Interplay between human DNA repair proteins at a unique double-strand break in vivo. (PMID: 16395335) Rodrigue A … Masson JY (The EMBO journal 2006) 3 4 23 56
  3. Cellular localization of human Rad51C and regulation of ubiquitin-mediated proteolysis of Rad51. (PMID: 16215984) Bennett BT … Knight KL (Journal of cellular biochemistry 2005) 3 4 23 56
  4. Domain mapping of the Rad51 paralog protein complexes. (PMID: 14704354) Miller KA … Albala JS (Nucleic acids research 2004) 3 4 23 56
  5. Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro. (PMID: 12427746) Lio YC … Chen DJ (The Journal of biological chemistry 2003) 3 4 23 56

ExternalLinks

View latest publications for RAD51C gene in Mastermind

Products for RAD51C Gene