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RAD51D RAD51 paralog D [ Homo sapiens (human) ]

Gene ID: 5892, updated on 12-Nov-2024

Summary

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Official Symbol
RAD51Dprovided by HGNC
Official Full Name
RAD51 paralog Dprovided by HGNC
Primary source
HGNC:HGNC:9823
See related
Ensembl:ENSG00000185379 MIM:602954; AllianceGenome:HGNC:9823
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
TRAD; R51H3; BROVCA4; RAD51L3
Summary
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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See RAD51D in Genome Data Viewer
Location:
17q12
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35092221..35119860, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36040135..36067774, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33419240..33446879, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAD51L3-RFFL readthrough Neighboring gene ring finger and FYVE like domain containing E3 ubiquitin protein ligase Neighboring gene small nucleolar RNA U13 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:33390277-33391476 Neighboring gene ribosomal protein L37 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:33416287-33416938 Neighboring gene MPRA-validated peak2815 silencer Neighboring gene RNA, U6 small nuclear 840, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12059 Neighboring gene fibronectin type III domain containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:33468753-33469630 Neighboring gene notchless homolog 1 Neighboring gene Sharpr-MPRA regulatory region 3440/5406 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:33487621-33487791 Neighboring gene unc-45 myosin chaperone B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Four cancer cases with pathological germline variant RAD51D c.270_271dup. Ishihara E, et al. J Obstet Gynaecol Res, 2024 Sep. PMID 39117461
  2. Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. Rivera B, et al. Cancer Res, 2017 Aug 15. PMID 28646019
  3. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. Gutiérrez-Enríquez S, et al. Int J Cancer, 2014 May 1. PMID 24130102
  4. Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants. Biswas S, et al. J Genet, 2024. PMID 39445568
  5. Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece. Konstanta I, et al. J Hum Genet, 2018 Nov. PMID 30111881

See all (101) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
    Title: Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
  2. Four cancer cases with pathological germline variant RAD51D c.270_271dup.
    Title: Four cancer cases with pathological germline variant RAD51D c.270_271dup.
  3. Endometrial Cancer in a Family With RAD51D Gene Mutation.
    Title: Endometrial Cancer in a Family With RAD51D Gene Mutation.
  4. Structural insights into BCDX2 complex function in homologous recombination.
    Title: Structural insights into BCDX2 complex function in homologous recombination.
  5. Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
    Title: Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
  6. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    Title: UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
  7. YTHDF3 mediates HNF1alpha regulation of cervical cancer radio-resistance by promoting RAD51D translation in an m6A-dependent manner.
    Title: YTHDF3 mediates HNF1α regulation of cervical cancer radio-resistance by promoting RAD51D translation in an m6A-dependent manner.
  8. Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
    Title: Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
  9. Clinical characteristics and survival analysis of Chinese ovarian cancer patients with RAD51D germline mutations.
    Title: Clinical characteristics and survival analysis of Chinese ovarian cancer patients with RAD51D germline mutations.
  10. Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.
    Title: Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.
Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Breast-ovarian cancer, familial, susceptibility to, 4
MedGen: C3280345 OMIM: 614291 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2024-01-09)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2024-01-09)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough RAD51L3-RFFL

Readthrough gene: RAD51L3-RFFL, Included gene: RFFL

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent DNA damage sensor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ATP-dependent activity, acting on DNA IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP-dependent activity, acting on DNA IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA binding TAS
Traceable Author Statement
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 gamma-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA strand invasion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA strand invasion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in interstrand cross-link repair IEA
Inferred from Electronic Annotation
more info
  
involved_in reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomere maintenance via recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
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 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus TAS
Traceable Author Statement
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

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Preferred Names
DNA repair protein RAD51 homolog 4
Names
RAD51 homolog D
RAD51-like protein 3
recombination repair protein

NCBI Reference Sequences (RefSeq)

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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_031858.1 RefSeqGene

    Range
    5001..25078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_516

mRNA and Protein(s)

  1. NM_001142571.2 → NP_001136043.1  DNA repair protein RAD51 homolog 4 isoform 6

    See identical proteins and their annotated locations for NP_001136043.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon but instead includes a different in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (6) is longer than isoform 1.
    Source sequence(s)
    AC022916, AK296241, AL117459, BX647297
    Consensus CDS
    CCDS45646.1
    UniProtKB/Swiss-Prot
    O75771
    Related
    ENSP00000466399.1, ENST00000590016.6
    Conserved Domains (1) summary
    cl21455
    Location:109 → 337
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_002878.4 → NP_002869.3  DNA repair protein RAD51 homolog 4 isoform 1

    See identical proteins and their annotated locations for NP_002869.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as TRAD) encodes isoform 1.
    Source sequence(s)
    AC022916, AL117459, BI916871, BX647297
    Consensus CDS
    CCDS11287.1
    UniProtKB/Swiss-Prot
    B4DJU7, E1P637, O43537, O60355, O75196, O75771, O75847, O75848, O76073, O76085, O94908, Q9UFU5
    Related
    ENSP00000338790.6, ENST00000345365.11
    Conserved Domains (2) summary
    cl27598
    Location:8 → 55
    TOP1Bc; Bacterial DNA topoisomeraes I ATP-binding domain
    cl28885
    Location:82 → 317
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...

  3. NM_133629.3 → NP_598332.1  DNA repair protein RAD51 homolog 4 isoform 4

    See identical proteins and their annotated locations for NP_598332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as TRAD-d3) lacks three alternate exons which results in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC022916, AL117459, BX647297
    Consensus CDS
    CCDS11288.1
    UniProtKB/Swiss-Prot
    O75771
    Related
    ENSP00000338408.6, ENST00000335858.11
    Conserved Domains (1) summary
    cl21455
    Location:36 → 205
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. NR_037711.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as TRAD-d1) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB016223, AC022916, AL117459, BI916871

  2. NR_037712.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as TRAD-d2) lacks an alternate exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB016224, AC022916, AL117459, BI916871

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    35092221..35119860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    36040135..36067774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133627.1: Suppressed sequence

    Description
    NM_133627.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate

  2. NM_133628.1: Suppressed sequence

    Description
    NM_133628.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

  3. NM_133630.1: Suppressed sequence

    Description
    NM_133630.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75771.1 GenPept UniProtKB/Swiss-Prot:O75771

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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