RAD51C RAD51 paralog C [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 17q22

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (58692573..58735611)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (59560405..59603693)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56769934..56812972)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.
Title: Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.
RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles.
Title: RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Title: Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Structural insights into BCDX2 complex function in homologous recombination.
Title: Structural insights into BCDX2 complex function in homologous recombination.
Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
Title: Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Title: SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
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.
Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.
Title: Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.
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.
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
Title: Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.

Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483677

G42247 (e-PCR)
- UniSTS:93350

WI-18519 (e-PCR)
- UniSTS:83421

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 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

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Preferred Names: DNA repair protein RAD51 homolog 3

Names: RAD51-like protein 2; yeast RAD51 homolog 3

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

NG_023199.1 RefSeqGene

Range

4972..46741

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_314

mRNA and Protein(s)

NM_002876.4 → NP_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:12 → 57

HHH_5; Helix-hairpin-helix domain

cl21455
Location:100 → 134

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_058216.3 → NP_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:21 → 348

recomb_radA; DNA repair and recombination protein RadA

cd01123
Location:100 → 347

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:12 → 57

HHH_5; Helix-hairpin-helix domain

RNA

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
NR_103873.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA304618, AC011195, AI424321, AI914449

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

58692573..58735611

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722004.4 → XP_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:1 → 231

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 ...
XM_006722001.5 → XP_006722064.1 DNA repair protein RAD51 homolog 3 isoform X1

UniProtKB/TrEMBL

J3QKK3

Conserved Domains (3) summary

TIGR02236
Location:21 → 349

recomb_radA; DNA repair and recombination protein RadA

cd01123
Location:100 → 348

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:12 → 57

HHH_5; Helix-hairpin-helix domain
XM_006722002.5 → XP_006722065.1 DNA repair protein RAD51 homolog 3 isoform X2

UniProtKB/TrEMBL

A0A8V8TMU8

Related

ENSP00000513399.1, ENST00000697690.1

Conserved Domains (2) summary

cd01123
Location:100 → 306

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:12 → 57

HHH_5; Helix-hairpin-helix domain
XM_047436505.1 → XP_047292461.1 DNA repair protein RAD51 homolog 3 isoform X4
XM_011525094.3 → XP_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:1 → 231

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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

59560405..59603693

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H7C1R0
XM_054316835.1 → XP_054172810.1 DNA repair protein RAD51 homolog 3 isoform X5

UniProtKB/TrEMBL

A0A8V8TML8, H7C1R0
XM_054316837.1 → XP_054172812.1 DNA repair protein RAD51 homolog 3 isoform X6

UniProtKB/TrEMBL

J3QR58
XM_054316834.1 → XP_054172809.1 DNA repair protein RAD51 homolog 3 isoform X3

UniProtKB/TrEMBL

H7C1R0
XM_054316830.1 → XP_054172805.1 DNA repair protein RAD51 homolog 3 isoform X1

UniProtKB/TrEMBL

J3QKK3
XM_054316831.1 → XP_054172806.1 DNA repair protein RAD51 homolog 3 isoform X2

UniProtKB/TrEMBL

A0A8V8TMU8
XM_054316836.1 → XP_054172811.1 DNA repair protein RAD51 homolog 3 isoform X4
XM_054316833.1 → XP_054172808.1 DNA repair protein RAD51 homolog 3 isoform X3

UniProtKB/TrEMBL

H7C1R0