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    RAD51C RAD51 paralog C [ Homo sapiens (human) ]

    Gene ID: 5889, updated on 25-Jan-2024

    Summary

    Official Symbol
    RAD51Cprovided by HGNC
    Official Full Name
    RAD51 paralog Cprovided by HGNC
    Primary source
    HGNC:HGNC:9820
    See related
    Ensembl:ENSG00000108384 MIM:602774; AllianceGenome:HGNC:9820
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FANCO; R51H3; BROVCA3; RAD51L2
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 5.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RAD51C in Genome Data Viewer
    Location:
    17q22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58692573..58735611)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59560405..59603693)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56769934..56812972)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene testis expressed 14, intercellular bridge forming factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12491 Neighboring gene IGBP1 family member C Neighboring gene ReSE screen-validated silencer GRCh37_chr17:56777426-56777594 Neighboring gene RNA, U1 small nuclear 52, pseudogene Neighboring gene RNA, variant U1 small nuclear 34 Neighboring gene MPRA-validated peak2919 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12492 Neighboring gene uncharacterized LOC105371843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8775 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:56833223-56833371 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1E Neighboring gene RNA, U6 small nuclear 518, pseudogene Neighboring gene ribosomal protein S12 pseudogene 30

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Breast-ovarian cancer, familial, susceptibility to, 3
    MedGen: C3150659 OMIM: 613399 GeneReviews: Not available
    Compare labs
    Fanconi anemia complementation group O
    MedGen: C3150653 OMIM: 613390 GeneReviews: Fanconi Anemia
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26227, MGC104277

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to crossover junction DNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to crossover junction DNA endonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to four-way junction DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in female meiosis sister chromatid cohesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in meiotic DNA recombinase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of G2/M transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sister chromatid cohesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance via recombination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Holliday junction resolvase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Rad51B-Rad51C-Rad51D-XRCC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Rad51C-XRCC3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Rad51C-XRCC3 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA repair protein RAD51 homolog 3
    Names
    RAD51-like protein 2
    yeast RAD51 homolog 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023199.1 RefSeqGene

      Range
      4972..46741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_314

    mRNA and Protein(s)

    1. NM_002876.4NP_002867.1  DNA repair protein RAD51 homolog 3 isoform 2

      See identical proteins and their annotated locations for NP_002867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC011195, AF029670, BM987503
      Consensus CDS
      CCDS45745.1
      UniProtKB/TrEMBL
      Q7KZJ0
      Related
      ENSP00000391450.2, ENST00000421782.3
      Conserved Domains (2) summary
      pfam14520
      Location:1257
      HHH_5; Helix-hairpin-helix domain
      cl21455
      Location:100134
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_058216.3NP_478123.1  DNA repair protein RAD51 homolog 3 isoform 1

      See identical proteins and their annotated locations for NP_478123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC025521, AF029669, CB243543
      Consensus CDS
      CCDS11611.1
      UniProtKB/Swiss-Prot
      O43502, O43503, Q3B783
      UniProtKB/TrEMBL
      J3QKK3
      Related
      ENSP00000336701.4, ENST00000337432.9
      Conserved Domains (3) summary
      TIGR02236
      Location:21348
      recomb_radA; DNA repair and recombination protein RadA
      cd01123
      Location:100347
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:1257
      HHH_5; Helix-hairpin-helix domain

    RNA

    1. NR_103872.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025521, BC000667, BC107753, CB243543
    2. NR_103873.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA304618, AC011195, AI424321, AI914449

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      58692573..58735611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722004.4XP_006722067.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_006722067.1

      UniProtKB/TrEMBL
      H7C1R0
      Related
      ENSP00000401741.1, ENST00000413590.5
      Conserved Domains (1) summary
      cd01123
      Location:1231
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    2. XM_006722001.5XP_006722064.1  DNA repair protein RAD51 homolog 3 isoform X1

      UniProtKB/TrEMBL
      J3QKK3
      Conserved Domains (3) summary
      TIGR02236
      Location:21349
      recomb_radA; DNA repair and recombination protein RadA
      cd01123
      Location:100348
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:1257
      HHH_5; Helix-hairpin-helix domain
    3. XM_006722002.5XP_006722065.1  DNA repair protein RAD51 homolog 3 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TMU8
      Related
      ENSP00000513399.1, ENST00000697690.1
      Conserved Domains (2) summary
      cd01123
      Location:100306
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:1257
      HHH_5; Helix-hairpin-helix domain
    4. XM_047436505.1XP_047292461.1  DNA repair protein RAD51 homolog 3 isoform X4

    5. XM_011525094.3XP_011523396.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_011523396.1

      UniProtKB/TrEMBL
      H7C1R0
      Related
      ENSP00000513402.1, ENST00000697694.1
      Conserved Domains (1) summary
      cd01123
      Location:1231
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59560405..59603693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316832.1XP_054172807.1  DNA repair protein RAD51 homolog 3 isoform X3

      UniProtKB/TrEMBL
      H7C1R0
    2. XM_054316835.1XP_054172810.1  DNA repair protein RAD51 homolog 3 isoform X5

      UniProtKB/TrEMBL
      A0A8V8TML8, H7C1R0
    3. XM_054316837.1XP_054172812.1  DNA repair protein RAD51 homolog 3 isoform X6

      UniProtKB/TrEMBL
      J3QR58
    4. XM_054316834.1XP_054172809.1  DNA repair protein RAD51 homolog 3 isoform X3

      UniProtKB/TrEMBL
      H7C1R0
    5. XM_054316830.1XP_054172805.1  DNA repair protein RAD51 homolog 3 isoform X1

      UniProtKB/TrEMBL
      J3QKK3
    6. XM_054316831.1XP_054172806.1  DNA repair protein RAD51 homolog 3 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TMU8
    7. XM_054316836.1XP_054172811.1  DNA repair protein RAD51 homolog 3 isoform X4

    8. XM_054316833.1XP_054172808.1  DNA repair protein RAD51 homolog 3 isoform X3

      UniProtKB/TrEMBL
      H7C1R0