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Protein

Breast cancer type 2 susceptibility protein

Gene

BRCA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SHFM1/DSS1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).11 Publications

GO - Molecular functioni

  • gamma-tubulin binding Source: UniProtKB
  • H3 histone acetyltransferase activity Source: UniProtKB
  • H4 histone acetyltransferase activity Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein C-terminus binding Source: MGI
  • single-stranded DNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, DNA recombination, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139618-MONOMER.
ReactomeiR-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-912446. Meiotic recombination.
SignaLinkiP51587.
SIGNORiP51587.

Names & Taxonomyi

Protein namesi
Recommended name:
Breast cancer type 2 susceptibility protein
Alternative name(s):
Fanconi anemia group D1 protein
Gene namesi
Name:BRCA2
Synonyms:FACD, FANCD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:1101. BRCA2.

Subcellular locationi

GO - Cellular componenti

  • BRCA2-MAGE-D1 complex Source: UniProtKB
  • centrosome Source: UniProtKB
  • cytoplasm Source: HPA
  • lateral element Source: MGI
  • nuclear chromosome, telomeric region Source: BHF-UCL
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • protein complex Source: UniProtKB
  • secretory granule Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC)19 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
See also OMIM:114480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02816725G → R in BC; abolishes interaction with PALB2. 1 Publication1
Natural variantiVAR_02816831W → C in BC; abolishes interaction with PALB2. 1 Publication1
Natural variantiVAR_02816931W → R in BC; abolishes interaction with PALB2. 1 Publication1
Natural variantiVAR_00508532F → L in BC. 1 Publication1
Natural variantiVAR_02070542Y → C in BC and ovarian cancer; unknown pathological significance. 2 PublicationsCorresponds to variant rs4987046dbSNPEnsembl.1
Natural variantiVAR_00508653K → R in BC. 1 Publication1
Natural variantiVAR_02070660N → S in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_03271264T → I in BC. 1 Publication1
Natural variantiVAR_00508881F → L in BC. 1 Publication1
Natural variantiVAR_005089201P → R in BC. 1 Publication1
Natural variantiVAR_005090211V → A in BC. 1 Publication1
Natural variantiVAR_005091222P → S in BC. 1 Publication1
Natural variantiVAR_032715225T → A in one patient with BC; normal RNA expression and splicing. 1 Publication1
Natural variantiVAR_032717326S → R in BC. 1 PublicationCorresponds to variant rs28897706dbSNPEnsembl.1
Natural variantiVAR_008767327K → E in BC; unknown pathological significance. 1
Natural variantiVAR_020707405G → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020708431T → I in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020709448R → H in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020710462E → G in BC; unknown pathological significance. 3 PublicationsCorresponds to variant rs56403624dbSNPEnsembl.1
Natural variantiVAR_032718505I → T in BC. 1 PublicationCorresponds to variant rs28897708dbSNPEnsembl.1
Natural variantiVAR_005095554C → W in BC and pancreas cancer. 1 Publication1
Natural variantiVAR_020712613L → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_005097728D → A in BC. 1
Natural variantiVAR_032719729I → M in BC. 1 Publication1
Natural variantiVAR_008772935D → N in BC; unknown pathological significance. Corresponds to variant rs28897716dbSNPEnsembl.1
Natural variantiVAR_0207131036E → K in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207141106S → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0327201172S → L in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207151179S → N in BC. 1 Publication1
Natural variantiVAR_0051001302Missing in BC. 1
Natural variantiVAR_0207171445K → T in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0327211522L → F in one patient with BC. 1 Publication1
Natural variantiVAR_0207181524F → V in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207191580C → Y in BC; somatic mutation. 1 Publication1
Natural variantiVAR_0207201679T → I in BC. 1 Publication1
Natural variantiVAR_0327221690K → N in BC. 1 Publication1
Natural variantiVAR_0327231730N → Y in BC. 1 Publication1
Natural variantiVAR_0087791771G → D in BC; unknown pathological significance. 2 PublicationsCorresponds to variant rs80358755dbSNPEnsembl.1
Natural variantiVAR_0207211804V → A in BC. 1 Publication1
Natural variantiVAR_0327241887T → M in BC. 1 Publication1
Natural variantiVAR_0207221901E → K in BC. 1 Publication1
Natural variantiVAR_0207231929I → V in BC; unknown pathological significance. 1 PublicationCorresponds to variant rs79538375dbSNPEnsembl.1
Natural variantiVAR_0207242031T → A in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0327262044G → V in one patient with BC. 1 PublicationCorresponds to variant rs56191579dbSNPEnsembl.1
Natural variantiVAR_0207252072S → C in BC. 1 Publication1
Natural variantiVAR_0087832089E → D in BC. 1 Publication1
Natural variantiVAR_0207262094Y → C in BC. 1 Publication1
Natural variantiVAR_0207272096P → L in BC. 1 Publication1
Natural variantiVAR_0207282118V → L in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207292128K → N in BC. 1 Publication1
Natural variantiVAR_0327282135N → H in BC. 1 Publication1
Natural variantiVAR_0327292222Y → C in BC. 1 Publication1
Natural variantiVAR_0051052274G → V in BC. 1
Natural variantiVAR_0207302275E → G in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207312293F → L in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207322353G → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0051062415H → N in BC. 1 Publication1
Natural variantiVAR_0051072421Q → H in BC. 1
Natural variantiVAR_0327312456Q → E in BC. 1 Publication1
Natural variantiVAR_0207332488R → K in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0639112502R → C in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0087892515T → I in BC; unknown pathological significance. 1 PublicationCorresponds to variant rs28897744dbSNPEnsembl.1
Natural variantiVAR_0639122627I → F in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0639132653L → P in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0639142659R → K in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0186612722T → R in BC. 2 Publications1
Natural variantiVAR_0207352723D → H in BC; unknown pathological significance; disrupts interaction with SHFM1/DSS1 promoting interaction with XPO1 and BRCA2 cytoplasmic localization; in heterozygous state promotes RAD51 cytoplasmic localization. 2 Publications1
Natural variantiVAR_0207362728V → I in BC. 3 PublicationsCorresponds to variant rs28897749dbSNPEnsembl.1
Natural variantiVAR_0207372729K → N in BC; unknown pathological significance; no effect on homologous recombination-mediated DNA repair; no effect on interaction with SHFM1. 2 PublicationsCorresponds to variant rs80359065dbSNPEnsembl.1
Natural variantiVAR_0639172748G → D in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207382793G → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207392950K → N in BC; unknown pathological significance. 2 PublicationsCorresponds to variant rs28897754dbSNPEnsembl.1
Natural variantiVAR_0207403013T → I in BC; unknown pathological significance. 2 PublicationsCorresponds to variant rs28897755dbSNPEnsembl.1
Natural variantiVAR_0051083095D → E in BC; unknown pathological significance. 2 Publications1
Natural variantiVAR_0087943098Y → H in BC and ovarian cancer; unknown pathological significance. 2 PublicationsCorresponds to variant rs41293521dbSNPEnsembl.1
Natural variantiVAR_0051103118M → T in BC. 1 Publication1
Natural variantiVAR_0207433124N → I in BC. 1 Publication1
Natural variantiVAR_0207443196K → E in BC. 1 PublicationCorresponds to variant rs80359228dbSNPEnsembl.1
Natural variantiVAR_0051113357T → R in BC. 1
Pancreatic cancer 2 (PNCA2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
See also OMIM:613347
Breast-ovarian cancer, familial, 2 (BROVCA2)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612555
Fanconi anemia complementation group D1 (FANCD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:605724
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0327302336R → H in FANCD1; affects protein splicing and expression; decreases homologous recombination-mediated DNA repair. 3 PublicationsCorresponds to variant rs28897743dbSNPEnsembl.1
Natural variantiVAR_0327322510L → P in FANCD1; hypersensitive to DNA damage; disrupts interaction with SHFM1. 2 Publications1
Natural variantiVAR_0327332626W → C in FANCD1; hypersensitive to DNA damage; no effect on interaction with SHFM1. 3 Publications1
Glioma 3 (GLM3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
See also OMIM:613029

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2725W → A: Disrupts interaction with SHFM1/DSS1. 1 Publication1
Mutagenesisi3291S → E: Impaired interaction with RAD51. 1 Publication1
Mutagenesisi3387T → A: Loss of phosphorylation by CHEK1 and CHEK2 (in vitro). 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia, Tumor suppressor

Organism-specific databases

DisGeNETi675.
MalaCardsiBRCA2.
MIMi114480. phenotype.
605724. phenotype.
612555. phenotype.
613029. phenotype.
613347. phenotype.
Orphaneti1333. Familial pancreatic carcinoma.
1331. Familial prostate cancer.
84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
227535. Hereditary breast cancer.
213524. Hereditary site-specific ovarian cancer syndrome.
319462. Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.
PharmGKBiPA25412.

Polymorphism and mutation databases

BioMutaiBRCA2.
DMDMi14424438.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000649841 – 3418Breast cancer type 2 susceptibility proteinAdd BLAST3418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei70PhosphoserineCombined sources1
Modified residuei445PhosphoserineCombined sources1
Modified residuei492PhosphoserineCombined sources1
Modified residuei755PhosphoserineCombined sources1
Modified residuei1970PhosphoserineCombined sources1
Modified residuei2035PhosphothreonineCombined sources1
Modified residuei2095PhosphoserineCombined sources1
Modified residuei3291Phosphoserine; by CDK1 and CDK21 Publication1
Modified residuei3319PhosphoserineCombined sources1
Modified residuei3387Phosphothreonine; by CHEK1 and CHEK21 Publication1

Post-translational modificationi

Phosphorylated by ATM upon irradiation-induced DNA damage. Phosphorylation by CHEK1 and CHEK2 regulates interaction with RAD51. Phosphorylation at Ser-3291 by CDK1 and CDK2 is low in S phase when recombination is active, but increases as cells progress towards mitosis; this phosphorylation prevents homologous recombination-dependent repair during S phase and G2 by inhibiting RAD51 binding.3 Publications
Ubiquitinated in the absence of DNA damage; this does not lead to proteasomal degradation. In contrast, ubiquitination in response to DNA damage leads to proteasomal degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP51587.
PaxDbiP51587.
PeptideAtlasiP51587.
PRIDEiP51587.

PTM databases

iPTMnetiP51587.
PhosphoSitePlusiP51587.

Expressioni

Tissue specificityi

Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.

Gene expression databases

BgeeiENSG00000139618.
CleanExiHS_BRCA2.
ExpressionAtlasiP51587. baseline and differential.
GenevisibleiP51587. HS.

Organism-specific databases

HPAiHPA026815.
HPA056112.

Interactioni

Subunit structurei

Monomer and dimer. Interacts with RAD51; regulates RAD51 recruitment and function at sites of DNA repair. Interacts with WDR16, USP11, DMC1, ROCK2 and NPM1. Interacts with SHFM1/DSS1; the interaction masks a nuclear export signal in BRCA2. Interacts with both nonubiquitinated and monoubiquitinated FANCD2; this complex also includes XRCC3 and phosphorylated FANCG. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with BRCA1 only in the presence of PALB2 which serves as the bridging protein. Interacts with POLH; the interaction is direct. Interacts with the TREX-2 complex subunits PCID2 and SHFM1/DSS1 (PubMed:24896180, PubMed:21719596).22 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DMC1Q1456511EBI-79792,EBI-930865
FANCD2Q9BXW916EBI-79792,EBI-359343
FANCD2Q9BXW9-23EBI-79792,EBI-596878
HMG20BQ9P0W28EBI-79792,EBI-713401
PALB2Q86YC215EBI-79792,EBI-1222653
PDS5BQ9NTI526EBI-79792,EBI-1175604
POLHQ9Y2536EBI-79792,EBI-2827270
RAD51Q0660936EBI-79792,EBI-297202
SHFM1P608968EBI-79792,EBI-79819

GO - Molecular functioni

  • gamma-tubulin binding Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein C-terminus binding Source: MGI

Protein-protein interaction databases

BioGridi107142. 80 interactors.
DIPiDIP-24214N.
IntActiP51587. 26 interactors.
MINTiMINT-1540184.
STRINGi9606.ENSP00000369497.

Structurei

Secondary structure

13418
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi31 – 35Combined sources5
Helixi1520 – 1522Combined sources3
Helixi1536 – 1541Combined sources6
Turni1542 – 1546Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1N0WX-ray1.70B1517-1551[»]
3EU7X-ray2.20X21-39[»]
ProteinModelPortaliP51587.
SMRiP51587.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51587.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1002 – 1036BRCA2 1Add BLAST35
Repeati1212 – 1246BRCA2 2Add BLAST35
Repeati1421 – 1455BRCA2 3Add BLAST35
Repeati1517 – 1551BRCA2 4Add BLAST35
Repeati1664 – 1698BRCA2 5Add BLAST35
Repeati1837 – 1871BRCA2 6Add BLAST35
Repeati1971 – 2005BRCA2 7Add BLAST35
Repeati2051 – 2085BRCA2 8Add BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 40Interaction with PALB2Add BLAST40
Regioni639 – 1000Interaction with NPM11 PublicationAdd BLAST362
Regioni1338 – 1781Interaction with POLH1 PublicationAdd BLAST444
Regioni1410 – 1595Required for stimulation of POLH DNA polymerization activityAdd BLAST186
Regioni2350 – 2545Interaction with FANCD2Add BLAST196
Regioni2481 – 2832Interaction with SHFM1/DSS12 PublicationsAdd BLAST352

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2682 – 2698Nuclear export signal; masked by interaction with SHFM1/DSS11 PublicationAdd BLAST17

Sequence similaritiesi

Contains 8 BRCA2 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4751. Eukaryota.
ENOG410Y06W. LUCA.
HOGENOMiHOG000139693.
HOVERGENiHBG050731.
InParanoidiP51587.
KOiK08775.
OrthoDBiEOG091G0C79.
TreeFamiTF105041.

Family and domain databases

InterProiIPR015525. BRCA2.
IPR015252. BRCA2_hlx.
IPR015187. BRCA2_OB_1.
IPR015188. BRCA2_OB_3.
IPR002093. BRCA2_repeat.
IPR012340. NA-bd_OB-fold.
IPR015205. Tower_dom.
[Graphical view]
PANTHERiPTHR11289. PTHR11289. 2 hits.
PfamiPF09169. BRCA-2_helical. 1 hit.
PF09103. BRCA-2_OB1. 1 hit.
PF09104. BRCA-2_OB3. 1 hit.
PF00634. BRCA2. 8 hits.
PF09121. Tower. 1 hit.
[Graphical view]
PIRSFiPIRSF002397. BRCA2. 1 hit.
SMARTiSM01341. Tower. 1 hit.
[Graphical view]
SUPFAMiSSF50249. SSF50249. 4 hits.
SSF81872. SSF81872. 1 hit.
PROSITEiPS50138. BRCA2_REPEAT. 8 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P51587-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES
60 70 80 90 100
EHKNNNYEPN LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK
110 120 130 140 150
FKLDLGRNVP NSRHKSLRTV KTKMDQADDV SCPLLNSCLS ESPVVLQCTH
160 170 180 190 200
VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI SESLGAEVDP DMSWSSSLAT
210 220 230 240 250
PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL KKNDRFIASV
260 270 280 290 300
TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
310 320 330 340 350
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE
360 370 380 390 400
KYSFVSEVEP NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL
410 420 430 440 450
SGLNGAQMEK IPLLHISSCD QNISEKDLLD TENKRKKDFL TSENSLPRIS
460 470 480 490 500
SLPKSEKPLN EETVVNKRDE EQHLESHTDC ILAVKQAISG TSPVASSFQG
510 520 530 540 550
IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL EIHTVCSQKE
560 570 580 590 600
DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
610 620 630 640 650
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN
660 670 680 690 700
DSEEPTLSLT SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL
710 720 730 740 750
FITPEADSLS CLQEGQCEND PKSKKVSDIK EEVLAAACHP VQHSKVEYSD
760 770 780 790 800
TDFQSQKSLL YDHENASTLI LTPTSKDVLS NLVMISRGKE SYKMSDKLKG
810 820 830 840 850
NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM RVASPSRKVQ
860 870 880 890 900
FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
910 920 930 940 950
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV
960 970 980 990 1000
LAEENKNSVK QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI
1010 1020 1030 1040 1050
SNHSFGGSFR TASNKEIKLS EHNIKKSKMF FKDIEEQYPT SLACVEIVNT
1060 1070 1080 1090 1100
LALDNQKKLS KPQSINTVSA HLQSSVVVSD CKNSHITPQM LFSKQDFNSN
1110 1120 1130 1140 1150
HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS TFEVPENQMT
1160 1170 1180 1190 1200
ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
1210 1220 1230 1240 1250
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE
1260 1270 1280 1290 1300
TSAEVHPISL SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM
1310 1320 1330 1340 1350
TTGTFVEEIT ENYKRNTENE DNKYTAASRN SHNLEFDGSD SSKNDTVCIH
1360 1370 1380 1390 1400
KDETDLLFTD QHNICLKLSG QFMKEGNTQI KEDLSDLTFL EVAKAQEACH
1410 1420 1430 1440 1450
GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK ESFNKIVNFF
1460 1470 1480 1490 1500
DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
1510 1520 1530 1540 1550
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE
1560 1570 1580 1590 1600
QGTSEITSFS HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN
1610 1620 1630 1640 1650
DKNLVSIETV VPPKLLSDNL CRQTENLKTS KSIFLKVKVH ENVEKETAKS
1660 1670 1680 1690 1700
PATCYTNQSP YSVIENSALA FYTSCSRKTS VSQTSLLEAK KWLREGIFDG
1710 1720 1730 1740 1750
QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL SNSSMSNSYS
1760 1770 1780 1790 1800
YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
1810 1820 1830 1840 1850
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK
1860 1870 1880 1890 1900
IVCVSHETIK KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS
1910 1920 1930 1940 1950
EDILHNSLDN DECSTHSHKV FADIQSEEIL QHNQNMSGLE KVSKISPCDV
1960 1970 1980 1990 2000
SLETSDICKC SIGKLHKSVS SANTCGIFST ASGKSVQVSD ASLQNARQVF
2010 2020 2030 2040 2050
SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI SQKGFSYNVV
2060 2070 2080 2090 2100
NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
2110 2120 2130 2140 2150
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK
2160 2170 2180 2190 2200
VSPYLSQFQQ DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF
2210 2220 2230 2240 2250
SDVPVKTNIE VCSTYSKDSE NYFETEAVEI AKAFMEDDEL TDSKLPSHAT
2260 2270 2280 2290 2300
HSLFTCPENE EMVLSNSRIG KRRGEPLILV GEPSIKRNLL NEFDRIIENQ
2310 2320 2330 2340 2350
EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE RQEIQNPNFT
2360 2370 2380 2390 2400
APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
2410 2420 2430 2440 2450
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN
2460 2470 2480 2490 2500
DNEIHQFNKN NSNQAAAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR
2510 2520 2530 2540 2550
QRVFPQPGSL YLAKTSTLPR ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI
2560 2570 2580 2590 2600
KINSKNAESF QFHTEDYFGK ESLWTGKGIQ LADGGWLIPS NDGKAGKEEF
2610 2620 2630 2640 2650
YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK EFANRCLSPE
2660 2670 2680 2690 2700
RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
2710 2720 2730 2740 2750
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK
2760 2770 2780 2790 2800
IILHGAELVG SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP
2810 2820 2830 2840 2850
FPLPLSSLFS DGGNVGCVDV IIQRAYPIQW MEKTSSGLYI FRNEREEEKE
2860 2870 2880 2890 2900
AAKYVEAQQK RLEALFTKIQ EEFEEHEENT TKPYLPSRAL TRQQVRALQD
2910 2920 2930 2940 2950
GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK QAQIQLEIRK
2960 2970 2980 2990 3000
AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL
3010 3020 3030 3040 3050
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ
3060 3070 3080 3090 3100
PREPLHFSKF LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL
3110 3120 3130 3140 3150
LAIKFWIDLN EDIIKPHMLI AASNLQWRPE SKSGLLTLFA GDFSVFSASP
3160 3170 3180 3190 3200
KEGHFQETFN KMKNTVENID ILCNEAENKL MHILHANDPK WSTPTKDCTS
3210 3220 3230 3240 3250
GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV STPVSAQMTS
3260 3270 3280 3290 3300
KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP
3310 3320 3330 3340 3350
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ
3360 3370 3380 3390 3400
ALLSGSTGEK QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS
3410
TEECEKNKQD TITTKKYI
Length:3,418
Mass (Da):384,202
Last modified:November 11, 2015 - v3
Checksum:i6A0B3B7B332153EB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti758S → N in CAA64484 (PubMed:8524414).Curated1
Sequence conflicti1761 – 1762GY → RI in CAA64484 (PubMed:8524414).Curated2
Sequence conflicti1767K → N in CAA64484 (PubMed:8524414).Curated1
Sequence conflicti2536S → P in CAA98995 (PubMed:15057823).Curated1
Sequence conflicti3216L → LVS in CAA97728 (PubMed:15057823).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02816725G → R in BC; abolishes interaction with PALB2. 1 Publication1
Natural variantiVAR_02816831W → C in BC; abolishes interaction with PALB2. 1 Publication1
Natural variantiVAR_02816931W → R in BC; abolishes interaction with PALB2. 1 Publication1
Natural variantiVAR_00508532F → L in BC. 1 Publication1
Natural variantiVAR_02070542Y → C in BC and ovarian cancer; unknown pathological significance. 2 PublicationsCorresponds to variant rs4987046dbSNPEnsembl.1
Natural variantiVAR_00508653K → R in BC. 1 Publication1
Natural variantiVAR_02070660N → S in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_03271264T → I in BC. 1 Publication1
Natural variantiVAR_00508775A → P in ovarian cancer and renal cancer; unknown pathological significance. 1 PublicationCorresponds to variant rs28897701dbSNPEnsembl.1
Natural variantiVAR_00508881F → L in BC. 1 Publication1
Natural variantiVAR_008766108N → H.1
Natural variantiVAR_032713118R → H in one patient with esophageal carcinoma. 1 Publication1
Natural variantiVAR_032714192M → T in one patient with pancreatic cancer. 1 Publication1
Natural variantiVAR_005089201P → R in BC. 1 Publication1
Natural variantiVAR_005090211V → A in BC. 1 Publication1
Natural variantiVAR_005091222P → S in BC. 1 Publication1
Natural variantiVAR_032715225T → A in one patient with BC; normal RNA expression and splicing. 1 Publication1
Natural variantiVAR_005092289N → H Common polymorphism; was originally thought to be linked to ovarian cancer. 6 PublicationsCorresponds to variant rs766173dbSNPEnsembl.1
Natural variantiVAR_032716315C → S in one patient with esophageal carcinoma. 1 PublicationCorresponds to variant rs79483201dbSNPEnsembl.1
Natural variantiVAR_018908322K → Q.1 PublicationCorresponds to variant rs11571640dbSNPEnsembl.1
Natural variantiVAR_032717326S → R in BC. 1 PublicationCorresponds to variant rs28897706dbSNPEnsembl.1
Natural variantiVAR_008767327K → E in BC; unknown pathological significance. 1
Natural variantiVAR_005093355V → L in lung cancer. 1
Natural variantiVAR_005094372N → H Common polymorphism; may be associated with an increased risk of breast cancer. 10 PublicationsCorresponds to variant rs144848dbSNPEnsembl.1
Natural variantiVAR_020707405G → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020708431T → I in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020709448R → H in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020710462E → G in BC; unknown pathological significance. 3 PublicationsCorresponds to variant rs56403624dbSNPEnsembl.1
Natural variantiVAR_032718505I → T in BC. 1 PublicationCorresponds to variant rs28897708dbSNPEnsembl.1
Natural variantiVAR_056751513K → R.Corresponds to variant rs28897709dbSNPEnsembl.1
Natural variantiVAR_005095554C → W in BC and pancreas cancer. 1 Publication1
Natural variantiVAR_008768582T → P.1 PublicationCorresponds to variant rs80358457dbSNPEnsembl.1
Natural variantiVAR_020711598T → A.1 PublicationCorresponds to variant rs28897710dbSNPEnsembl.1
Natural variantiVAR_035436599S → F.1 PublicationCorresponds to variant rs1046984dbSNPEnsembl.1
Natural variantiVAR_076440606P → L.1 Publication1
Natural variantiVAR_020712613L → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_005096630T → I in ovarian cancer. 1
Natural variantiVAR_008769707D → Y.Corresponds to variant rs80358487dbSNPEnsembl.1
Natural variantiVAR_005097728D → A in BC. 1
Natural variantiVAR_032719729I → M in BC. 1 Publication1
Natural variantiVAR_008770784M → V.2 PublicationsCorresponds to variant rs11571653dbSNPEnsembl.1
Natural variantiVAR_008771886N → I.1
Natural variantiVAR_018909929L → S.1 PublicationCorresponds to variant rs2227943dbSNPEnsembl.1
Natural variantiVAR_008772935D → N in BC; unknown pathological significance. Corresponds to variant rs28897716dbSNPEnsembl.1
Natural variantiVAR_018910976S → F.1 PublicationCorresponds to variant rs11571656dbSNPEnsembl.1
Natural variantiVAR_056752982I → L.Corresponds to variant rs28897717dbSNPEnsembl.1
Natural variantiVAR_018911987N → I.1 PublicationCorresponds to variant rs2227944dbSNPEnsembl.1
Natural variantiVAR_005098991N → D Common polymorphism. 8 PublicationsCorresponds to variant rs1799944dbSNPEnsembl.1
Natural variantiVAR_0207131036E → K in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207141106S → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0050991147N → S.1 PublicationCorresponds to variant rs1799951dbSNPEnsembl.1
Natural variantiVAR_0327201172S → L in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207151179S → N in BC. 1 Publication1
Natural variantiVAR_0207161279N → S.2 Publications1
Natural variantiVAR_0087731286Missing .1
Natural variantiVAR_0087741290C → Y.Corresponds to variant rs41293485dbSNPEnsembl.1
Natural variantiVAR_0051001302Missing in BC. 1
Natural variantiVAR_0087751414T → M.Corresponds to variant rs70953664dbSNPEnsembl.1
Natural variantiVAR_0087761420D → Y.6 PublicationsCorresponds to variant rs28897727dbSNPEnsembl.1
Natural variantiVAR_0207171445K → T in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0087771513D → N.1
Natural variantiVAR_0327211522L → F in one patient with BC. 1 Publication1
Natural variantiVAR_0207181524F → V in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0051011529G → R in bladder cancer. Corresponds to variant rs28897728dbSNPEnsembl.1
Natural variantiVAR_0567531542V → M.Corresponds to variant rs28897729dbSNPEnsembl.1
Natural variantiVAR_0189121561H → N.1 PublicationCorresponds to variant rs2219594dbSNPEnsembl.1
Natural variantiVAR_0207191580C → Y in BC; somatic mutation. 1 Publication1
Natural variantiVAR_0087781593E → D.1 Publication1
Natural variantiVAR_0567541643V → A.Corresponds to variant rs28897731dbSNPEnsembl.1
Natural variantiVAR_0207201679T → I in BC. 1 Publication1
Natural variantiVAR_0327221690K → N in BC. 1 Publication1
Natural variantiVAR_0327231730N → Y in BC. 1 Publication1
Natural variantiVAR_0087791771G → D in BC; unknown pathological significance. 2 PublicationsCorresponds to variant rs80358755dbSNPEnsembl.1
Natural variantiVAR_0207211804V → A in BC. 1 Publication1
Natural variantiVAR_0087801805N → S.Corresponds to variant rs80358765dbSNPEnsembl.1
Natural variantiVAR_0051021880N → K Polymorphism; was originally thought to be linked to breast cancer. 2 PublicationsCorresponds to variant rs11571657dbSNPEnsembl.1
Natural variantiVAR_0327241887T → M in BC. 1 Publication1
Natural variantiVAR_0207221901E → K in BC. 1 Publication1
Natural variantiVAR_0087811902D → N.Corresponds to variant rs4987048dbSNPEnsembl.1
Natural variantiVAR_0051031915T → M May be a rare polymorphism; somatic mutation. 6 PublicationsCorresponds to variant rs4987117dbSNPEnsembl.1
Natural variantiVAR_0207231929I → V in BC; unknown pathological significance. 1 PublicationCorresponds to variant rs79538375dbSNPEnsembl.1
Natural variantiVAR_0567551979S → R.Corresponds to variant rs28897737dbSNPEnsembl.1
Natural variantiVAR_0327251988V → I in one patient with esophageal carcinoma; somatic mutation. 1 Publication1
Natural variantiVAR_0207242031T → A in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0051042034R → C.3 PublicationsCorresponds to variant rs1799954dbSNPEnsembl.1
Natural variantiVAR_0327262044G → V in one patient with BC. 1 PublicationCorresponds to variant rs56191579dbSNPEnsembl.1
Natural variantiVAR_0207252072S → C in BC. 1 Publication1
Natural variantiVAR_0087822074H → N.Corresponds to variant rs34309943dbSNPEnsembl.1
Natural variantiVAR_0087832089E → D in BC. 1 Publication1
Natural variantiVAR_0207262094Y → C in BC. 1 Publication1
Natural variantiVAR_0207272096P → L in BC. 1 Publication1
Natural variantiVAR_0327272108R → C.1 PublicationCorresponds to variant rs55794205dbSNPEnsembl.1
Natural variantiVAR_0615632116H → R.Corresponds to variant rs55953736dbSNPEnsembl.1
Natural variantiVAR_0207282118V → L in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207292128K → N in BC. 1 Publication1
Natural variantiVAR_0327282135N → H in BC. 1 Publication1
Natural variantiVAR_0087842138V → F.1 PublicationCorresponds to variant rs11571659dbSNPEnsembl.1
Natural variantiVAR_0189132162K → R.1 PublicationCorresponds to variant rs11571660dbSNPEnsembl.1
Natural variantiVAR_0327292222Y → C in BC. 1 Publication1
Natural variantiVAR_0567562238D → E.Corresponds to variant rs28897742dbSNPEnsembl.1
Natural variantiVAR_0051052274G → V in BC. 1
Natural variantiVAR_0207302275E → G in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207312293F → L in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0327302336R → H in FANCD1; affects protein splicing and expression; decreases homologous recombination-mediated DNA repair. 3 PublicationsCorresponds to variant rs28897743dbSNPEnsembl.1
Natural variantiVAR_0567572336R → Q.Corresponds to variant rs28897743dbSNPEnsembl.1
Natural variantiVAR_0207322353G → R in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0051062415H → N in BC. 1 Publication1
Natural variantiVAR_0051072421Q → H in BC. 1
Natural variantiVAR_0189142440H → R.1 PublicationCorresponds to variant rs4986860dbSNPEnsembl.1
Natural variantiVAR_0567582447N → D.Corresponds to variant rs4986859dbSNPEnsembl.1
Natural variantiVAR_0327312456Q → E in BC. 1 Publication1
Natural variantiVAR_0087852466A → V Polymorphism; was originally thought to be linked to ovarian cancer. 5 Publications1
Natural variantiVAR_0087862480L → V.Corresponds to variant rs80358965dbSNPEnsembl.1
Natural variantiVAR_0207332488R → K in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0087872490I → T Polymorphism; no effect on homologous recombination-mediated DNA repair; no effect on interaction with SHFM1. 2 PublicationsCorresponds to variant rs11571707dbSNPEnsembl.1
Natural variantiVAR_0639112502R → C in BC; unknown pathological significance. 1 Publication