Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5889
Gene name Gene Name - the full gene name approved by the HGNC.	RAD51 paralog C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RAD51C
Synonyms (NCBI Gene) Gene synonyms aliases	BROVCA3, FANCO, R51H3, RAD51L2
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q22
Summary Summary of gene provided in NCBI Entrez 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 RA

Show/Hide all(83)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140804406	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs145310733	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs147241704	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs149228565	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200293302	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs201079501	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201529791	T>C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs267606997	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs267606998	G>T	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs267606999	G>C	Risk-factor, likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs377586976	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs387907159	C>A,G,T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs587780257	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs587780259	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587781490	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs587781680	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs587782036	G>A,C	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs587782170	AA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587782286	AG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs587782533	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587782699	->TA	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs587782702	G>T	Likely-pathogenic, risk-factor	Intron variant, genic downstream transcript variant
rs587782818	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs727503760	AGTA>-	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, splice donor variant
rs730881931	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Stop lost, non coding transcript variant, splice donor variant, terminator codon variant
rs730881939	->A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs730881940	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs746870368	G>A,T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs746993675	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs748589398	A>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs754367349	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs758847241	A>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs760235677	G>A,T	Likely-pathogenic, pathogenic, risk-factor	Splice donor variant, genic downstream transcript variant
rs765143155	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs767796996	G>A,C	Likely-pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs768793789	->C	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs770637624	C>T	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs778157321	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs786201909	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs786202563	ACCAA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786203945	CT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs876658644	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs876659497	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs975635861	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1057517812	CA>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1057519355	G>-	Risk-factor, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1060502588	C>G,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1060502601	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060502605	ATCA>-,ATCAATCA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064795774	T>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1327086366	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs1413872299	G>C,T	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1466185247	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1555593450	TCA>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555593457	A>G	Likely-pathogenic	Splice acceptor variant
rs1555593458	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1555593521	->AATG	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555593553	T>C,G	Likely-benign, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, synonymous variant
rs1555593616	A>T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555593670	C>T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555593715	T>A	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555594590	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555594617	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555594861	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1555594864	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555594912	AAGG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555597094	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1555597132	TATT>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555599090	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555599288	G>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555602141	TTGTTCCTGC>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555602159	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1567785872	G>C,T	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained, non coding transcript variant
rs1567786326	C>G	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1567786509	AGAAATTTG>C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567789009	T>A	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1567799818	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1567799943	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1598455598	->AT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1598460116	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1598460178	AG>T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1598460710	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1598504016	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000898	hsa-miR-15a-5p	Microarray	18362358
MIRT000897	hsa-miR-16-5p	Microarray	18362358
MIRT029315	hsa-miR-26b-5p	Microarray	19088304
MIRT048689	hsa-miR-99a-5p	CLASH	23622248
MIRT048598	hsa-miR-100-5p	CLASH	23622248
MIRT1288145	hsa-miR-1200	CLIP-seq
MIRT1288146	hsa-miR-3074-5p	CLIP-seq
MIRT1288147	hsa-miR-4477a	CLIP-seq
MIRT1288148	hsa-miR-4517	CLIP-seq
MIRT1288149	hsa-miR-1298	CLIP-seq
MIRT1288150	hsa-miR-4436b-5p	CLIP-seq
MIRT1288151	hsa-miR-4477b	CLIP-seq
MIRT1288152	hsa-miR-513a-3p	CLIP-seq
MIRT1288153	hsa-miR-513b	CLIP-seq
MIRT1288154	hsa-miR-548ag	CLIP-seq
MIRT1288155	hsa-miR-548ai	CLIP-seq
MIRT1288156	hsa-miR-648	CLIP-seq
MIRT2085308	hsa-miR-4643	CLIP-seq
MIRT2085309	hsa-miR-466	CLIP-seq
MIRT2085310	hsa-miR-4789-3p	CLIP-seq
MIRT2457689	hsa-miR-329	CLIP-seq
MIRT2457690	hsa-miR-362-3p	CLIP-seq
MIRT2457691	hsa-miR-3941	CLIP-seq
MIRT2457692	hsa-miR-4282	CLIP-seq
MIRT2457693	hsa-miR-603	CLIP-seq

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000400	Function	Four-way junction DNA binding	IBA
GO:0000400	Function	Four-way junction DNA binding	IDA	20207730
GO:0000707	Process	Meiotic DNA recombinase assembly	IBA
GO:0000722	Process	Telomere maintenance via recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23149936
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9469824
GO:0005515	Function	Protein binding	IPI	9469824, 11751635, 11842113, 16395335, 21965664, 24005329, 24141787, 26496610, 28514442, 28864920, 32296183, 33961781, 34591612, 35849344
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12966089, 16215984
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9469824
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IBA
GO:0005657	Component	Replication fork	IDA	20207730
GO:0005737	Component	Cytoplasm	IDA	16215984
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	20413593
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IDA	19451272
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9469824
GO:0006310	Process	DNA recombination	IDA	19451272
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	9469824
GO:0006974	Process	DNA damage response	IEA
GO:0007062	Process	Sister chromatid cohesion	ISS
GO:0007066	Process	Female meiosis sister chromatid cohesion	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007141	Process	Male meiosis I	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IBA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IMP	14716019
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	23108668
GO:0030054	Component	Cell junction	IDA
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IBA
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA	11751635
GO:0033065	Component	Rad51C-XRCC3 complex	IBA
GO:0033065	Component	Rad51C-XRCC3 complex	IDA	11751635
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16215984
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

MIM	HGNC	e!Ensembl
602774	9820	ENSG00000108384

Protein

UniProt ID

O43502

Protein name

DNA repair protein RAD51 homolog 3 (R51H3) (RAD51 homolog C) (RAD51-like protein 2)

Protein 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 RAD5

PDB

8FAZ , 8GBJ , 8OUY , 8OUZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08423	Rad51	31 → 349	Rad51	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate.

Sequence

MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALET
LQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKT
TEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHL
QLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVI
VDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPA
LGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTE
GSLSTRKRSRDPEEEL

Sequence length

376

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination Fanconi anemia pathway		HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Presynaptic phase of homologous DNA pairing and strand exchange Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Breast Cancer	Malignant tumor of breast	rs730881940, rs587782818	N/A
Endometrial carcinoma	endometrial carcinoma	rs587781490	N/A
Fanconi Anemia	Fanconi anemia complementation group O	rs1555593553, rs1555593616, rs757128712, rs267606999, rs1555594590, rs1060502605, rs587782170, rs1567799943, rs1598460710, rs746993675, rs730881931, rs767796996, rs387907159, rs1555602159, rs1060502601 View all (74 more)	N/A
gastric cancer	Gastric cancer	rs779582317	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Carcinoma	hereditary breast carcinoma	N/A	N/A	GenCC
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
premature ovarian failure	Premature ovarian failure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Alzheimer Disease	Associate	34367470
Ataxia	Associate	27296891
Breast Neoplasms	Associate	22370629, 22383991, 22476429, 22843497, 23021409, 24139550, 24359560, 25452441, 26534844, 26824983, 26873923, 28419251, 28796317, 28825726, 28864920 View all (30 more)
Breast Neoplasms	Stimulate	32091585
Carcinogenesis	Associate	27465554
Carcinoma Hepatocellular	Associate	38297111
Carcinoma Non Small Cell Lung	Associate	27465554, 37074454
Carcinoma Ovarian Epithelial	Associate	24504028, 26261251, 29020732, 30640700, 36162851, 36210504
Colorectal Neoplasms	Associate	25669972, 27296891, 35567913, 35881546
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	40282418
COVID 19	Associate	33186762
Fanconi Anemia	Associate	22383991, 23620800, 24141787, 27296891, 31584931, 37031326, 37974167, 39299233
Genetic Diseases Inborn	Associate	29659569
Glioblastoma	Associate	35406779
Graft vs Host Disease	Associate	28024868, 30640700
Head and Neck Neoplasms	Associate	24315737
Hepatitis B	Associate	38297111
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21990120, 22370629, 22476429, 23176254, 23239986, 23300655, 24139550, 24141787, 24315737, 24504028, 24549055, 25343521, 26976419, 27753535, 28796317 View all (14 more)
Infections	Stimulate	38297111
Inflammatory Breast Neoplasms	Associate	34445631
Leukemia Myeloid Acute	Associate	26689913
Muir Torre Syndrome	Associate	33319852
Neoplasms	Associate	12853621, 22370629, 24141787, 24315737, 24359560, 24742710, 25669972, 26689913, 26824983, 27296891, 27465554, 27621404, 29020732, 29053726, 29659569 View all (22 more)
Neoplasms	Inhibit	27107417, 27753535, 32669601
Neoplasms Cystic Mucinous and Serous	Associate	24504028, 40428378
Neoplastic Syndromes Hereditary	Associate	32090079, 35960913, 40282418
Neuroblastoma	Associate	36493725
Ovarian Neoplasms	Associate	21990120, 22843497, 23047548, 23176254, 24240112, 24359560, 24504028, 25343521, 26057125, 26261251, 26406958, 26718727, 26873923, 28418444, 28829762 View all (19 more)
Pancreatic Neoplasms	Associate	29961768, 34620795, 39256447
Polycythemia Vera	Associate	40282418
Prostatic Neoplasms	Associate	23176254, 29659569, 30587560, 33107155, 34388386
Prostatic Neoplasms Castration Resistant	Associate	32606146
Recombinant chromosome 8 syndrome	Associate	24504028, 30803719, 33149131, 35643464, 36099300, 37193789
Sebaceous Gland Neoplasms	Associate	33319852
Squamous Cell Carcinoma of Head and Neck	Associate	24315737
Stomach Neoplasms	Associate	26689913, 28024868, 31127894, 36484990, 40282418
T Lymphocytopenia Idiopathic CD4 Positive	Associate	37344587
Testicular Germ Cell Tumor	Associate	33513287
Triple Negative Breast Neoplasms	Associate	26824983, 28085182, 30949688, 33471974, 34488828, 35084436, 36315097
Urethral Neoplasms	Associate	37986697
Urinary Bladder Neoplasms	Stimulate	40282418

RAD51C (RAD51 paralog C)