full name
nibrin

synonyms
AT-V1, AT-V2, ATV, NBS, NBS1, P95, NBN, ENSG00000104320

HGNC
HGNC:7652

Entrez Gene
Gene:4683

ENSEMBL
ENSG00000104320

location
chr: 8
start: 90945564
stop: 90996952
strand: -

OMIM
OMIM:602667: NBN
OMIM:609135: Aplastic anemia
OMIM:613065: Leukemia, acute lymphoblastic
OMIM:251260: Nijmegen breakage syndrome

transcripts
NM_002485.4

pathways
BARD1 signaling events [NCBI:137959] [Pathway Interaction Database:bard1pathway] [PUBMED:12086603] [PUBMED:15159397] [PUBMED:12732733] [PUBMED:14988723] [PUBMED:14647430] [PUBMED:11927591] [PUBMED:12183411] [PUBMED:8944023] [PUBMED:11278247] [PUBMED:15632137] [PUBMED:9811458] [PUBMED:12154023] [PUBMED:15905410] [PUBMED:12612651] [PUBMED:15665273] [PUBMED:12354784] [PUBMED:10910365] [PUBMED:16391231] [PUBMED:12431996] [PUBMED:15782130] [PUBMED:15184379] [PUBMED:11301010] [PUBMED:9267023] [PUBMED:15886201] [PUBMED:11943588] [PUBMED:10477523] [PUBMED:9738006] [PUBMED:11239454] [PUBMED:10764811]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle Checkpoints [NCBI:1269742] [REACTOME:R-HSA-69620]
Cellular Senescence [NCBI:1270426] [REACTOME:R-HSA-2559583] [PUBMED:21078816] [PUBMED:18711403] [PUBMED:22048312] [PUBMED:19818705] [PUBMED:17662938] [PUBMED:23746838] [PUBMED:9282108] [PUBMED:17667954] [PUBMED:13905658]
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
DNA Damage/Telomere Stress Induced Senescence [NCBI:1270429] [REACTOME:R-HSA-2559586] [PUBMED:15790808] [PUBMED:15574587] [PUBMED:10669743] [PUBMED:9733515] [PUBMED:9357549] [PUBMED:8242751] [PUBMED:17694070] [PUBMED:2342578] [PUBMED:9733514] [PUBMED:10037601] [PUBMED:2392154] [PUBMED:9843217] [PUBMED:19528227] [PUBMED:16166375] [PUBMED:8242752]
DNA Double Strand Break Response [NCBI:1309096] [REACTOME:R-HSA-5693606] [PUBMED:20965415]
DNA Double-Strand Break Repair [NCBI:1309095] [REACTOME:R-HSA-5693532] [PUBMED:12897142] [PUBMED:20965415]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
G2/M Checkpoints [NCBI:1269753] [REACTOME:R-HSA-69481]
G2/M DNA damage checkpoint [NCBI:1269754] [REACTOME:R-HSA-69473]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) [NCBI:1309100] [REACTOME:R-HSA-5693567] [PUBMED:20965415]
HDR through Homologous Recombination (HRR) [NCBI:1309102] [REACTOME:R-HSA-5685942] [PUBMED:20965415]
HDR through MMEJ (alt-NHEJ) [NCBI:1309109] [REACTOME:R-HSA-5685939] [PUBMED:25642963] [PUBMED:25642960] [PUBMED:25643323] [PUBMED:21816818] [PUBMED:25201414] [PUBMED:20483915] [PUBMED:16012167] [PUBMED:19357644] [PUBMED:25789972]
HDR through Single Strand Annealing (SSA) [NCBI:1309108] [REACTOME:R-HSA-5685938] [PUBMED:12791985] [PUBMED:17962301] [PUBMED:25122754] [PUBMED:21804533] [PUBMED:12139939] [PUBMED:10212258] [PUBMED:10921897] [PUBMED:19357644] [PUBMED:21240188] [PUBMED:21325134] [PUBMED:9837724] [PUBMED:15485900] [PUBMED:17928296] [PUBMED:18539610] [PUBMED:12370410] [PUBMED:17965729] [PUBMED:22977173] [PUBMED:14734547] [PUBMED:21052091]
Homologous DNA Pairing and Strand Exchange [NCBI:1309103] [REACTOME:R-HSA-5693579] [PUBMED:9880493] [PUBMED:17996710] [PUBMED:12912992] [PUBMED:19369211] [PUBMED:19268590] [PUBMED:17996711] [PUBMED:24141787] [PUBMED:20871615] [PUBMED:20965415] [PUBMED:20871616] [PUBMED:23149936]
Homologous recombination [NCBI:83046] [KEGG:hsa03440] [PUBMED:12589470] [PUBMED:15902993] [PUBMED:16935872] [PUBMED:17395553] [PUBMED:18086882] [PUBMED:17571595] [PUBMED:18430459]
Homology Directed Repair [NCBI:1309099] [REACTOME:R-HSA-5693538] [PUBMED:11242102] [PUBMED:20965415] [PUBMED:11376695] [PUBMED:12427531]
Meiosis [NCBI:1269865] [REACTOME:R-HSA-1500620] [PUBMED:20051984] [PUBMED:20364103] [PUBMED:16543383] [PUBMED:18948708]
Meiotic recombination [NCBI:1269866] [REACTOME:R-HSA-912446] [PUBMED:16543383] [PUBMED:20364103] [PUBMED:20051984]
Nonhomologous End-Joining (NHEJ) [NCBI:1309110] [REACTOME:R-HSA-5693571] [PUBMED:10802669] [PUBMED:21293379] [PUBMED:16914548] [PUBMED:12509254] [PUBMED:12607005] [PUBMED:17470781] [PUBMED:12364621] [PUBMED:11493912] [PUBMED:23333306] [PUBMED:22179609] [PUBMED:25512557] [PUBMED:22529269] [PUBMED:23505375] [PUBMED:15574327] [PUBMED:12077346] [PUBMED:11030616] [PUBMED:14561766] [PUBMED:8422676] [PUBMED:23727112] [PUBMED:17525340] [PUBMED:23306437] [PUBMED:10757784] [PUBMED:16439205] [PUBMED:10959836] [PUBMED:15790808] [PUBMED:16377563] [PUBMED:11955432] [PUBMED:22373579] [PUBMED:19001859] [PUBMED:12023295] [PUBMED:15451442] [PUBMED:16093244] [PUBMED:10572166]
Presynaptic phase of homologous DNA pairing and strand exchange [NCBI:1309104] [REACTOME:R-HSA-5693616] [PUBMED:20729858] [PUBMED:15665856] [PUBMED:20729832] [PUBMED:23149936] [PUBMED:23810717] [PUBMED:15703751] [PUBMED:18317453] [PUBMED:20729859] [PUBMED:11751635]
Processing of DNA double-strand break ends [NCBI:1309101] [REACTOME:R-HSA-5693607] [PUBMED:25122754] [PUBMED:18171670] [PUBMED:20965415] [PUBMED:22231403] [PUBMED:25558984] [PUBMED:19357644] [PUBMED:21325134] [PUBMED:21240188] [PUBMED:21659603] [PUBMED:23468639] [PUBMED:25659039]
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks [NCBI:1309098] [REACTOME:R-HSA-5693565] [PUBMED:18483401] [PUBMED:21293379] [PUBMED:10866324] [PUBMED:9488723] [PUBMED:18001825] [PUBMED:18006705] [PUBMED:11571274] [PUBMED:12364621] [PUBMED:22234877] [PUBMED:10802669] [PUBMED:17553757] [PUBMED:10550055] [PUBMED:23333306] [PUBMED:20023648] [PUBMED:18077395] [PUBMED:19203578] [PUBMED:22373579] [PUBMED:19203579] [PUBMED:19234442] [PUBMED:16377563] [PUBMED:15201865] [PUBMED:19092802] [PUBMED:17525340] [PUBMED:22589545] [PUBMED:11025670] [PUBMED:16651405] [PUBMED:19001859] [PUBMED:18001824]
Regulation of TP53 Activity [NCBI:1383076] [REACTOME:R-HSA-5633007] [PUBMED:19450511] [PUBMED:20457558] [PUBMED:23825024] [PUBMED:25641576]
Regulation of TP53 Activity through Phosphorylation [NCBI:1383080] [REACTOME:R-HSA-6804756] [PUBMED:11780126] [PUBMED:21317932] [PUBMED:15866171] [PUBMED:12393879] [PUBMED:11740489] [PUBMED:11447225] [PUBMED:9733515] [PUBMED:12851404] [PUBMED:10884347] [PUBMED:10710310] [PUBMED:11239457] [PUBMED:9925639] [PUBMED:11546806] [PUBMED:11551930] [PUBMED:10570149] [PUBMED:18490454] [PUBMED:17591690] [PUBMED:19965871] [PUBMED:12064478] [PUBMED:10673501] [PUBMED:22611192] [PUBMED:9843217] [PUBMED:15053879] [PUBMED:12914926] [PUBMED:10673500] [PUBMED:17349958] [PUBMED:14702041] [PUBMED:20959462] [PUBMED:10435622] [PUBMED:9733514]
Regulation of Telomerase [NCBI:137987] [Pathway Interaction Database:telomerasepathway] [PUBMED:12037663] [PUBMED:11191110] [PUBMED:15381700] [PUBMED:10637317] [PUBMED:15314656] [PUBMED:10601322] [PUBMED:12545159] [PUBMED:11110707] [PUBMED:15371341] [PUBMED:12681489] [PUBMED:15824061] [PUBMED:15048073] [PUBMED:10850490] [PUBMED:16730176] [PUBMED:12181313] [PUBMED:16890531] [PUBMED:9837921] [PUBMED:10224060] [PUBMED:15331176] [PUBMED:16522649] [PUBMED:9822378] [PUBMED:15316005] [PUBMED:12699629] [PUBMED:16843438] [PUBMED:12151407] [PUBMED:12135483] [PUBMED:15655249] [PUBMED:10888888] [PUBMED:16765199] [PUBMED:16869756] [PUBMED:10837221] [PUBMED:16135795] [PUBMED:11074006] [PUBMED:11191109] [PUBMED:14712220] [PUBMED:16508638] [PUBMED:10471503] [PUBMED:11854288] [PUBMED:16785237] [PUBMED:9130722] [PUBMED:12956959] [PUBMED:15710386] [PUBMED:12586360] [PUBMED:12377759] [PUBMED:11433024] [PUBMED:15843522] [PUBMED:14749375] [PUBMED:11274138] [PUBMED:12676087] [PUBMED:16166375] [PUBMED:15371412]
Resolution of D-Loop Structures [NCBI:1309105] [REACTOME:R-HSA-5693537] [PUBMED:12902160] [PUBMED:20965415]
Resolution of D-loop Structures through Holliday Junction Intermediates [NCBI:1309106] [REACTOME:R-HSA-5693568] [PUBMED:24831703] [PUBMED:23509288] [PUBMED:22645308] [PUBMED:14527420] [PUBMED:19596236] [PUBMED:24509834] [PUBMED:14685245] [PUBMED:24076221] [PUBMED:24371268]
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) [NCBI:1309107] [REACTOME:R-HSA-5693554] [PUBMED:16855289] [PUBMED:22593209] [PUBMED:24115439] [PUBMED:20417600] [PUBMED:16648486] [PUBMED:19305001] [PUBMED:18957201]
Sensing of DNA Double Strand Breaks [NCBI:1309097] [REACTOME:R-HSA-5693548] [PUBMED:20965415] [PUBMED:15790808] [PUBMED:12556884] [PUBMED:16141325] [PUBMED:17923702] [PUBMED:12034743] [PUBMED:12427531]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]
Validated targets of C-MYC transcriptional activation [NCBI:169351] [Pathway Interaction Database:myc_activpathway] [PUBMED:18987359] [PUBMED:16537449] [PUBMED:9924025] [PUBMED:17643117] [PUBMED:8356088] [PUBMED:10688915] [PUBMED:1562593] [PUBMED:19020761] [PUBMED:10823814] [PUBMED:12637527] [PUBMED:9178906] [PUBMED:17967894] [PUBMED:15723053] [PUBMED:16508012] [PUBMED:8700224] [PUBMED:12091391] [PUBMED:20173740] [PUBMED:11522645] [PUBMED:15774466] [PUBMED:12776737] [PUBMED:12011429] [PUBMED:12138190] [PUBMED:10022128] [PUBMED:11511539] [PUBMED:12177005] [PUBMED:17599065] [PUBMED:6438521] [PUBMED:19745813] [PUBMED:8196628] [PUBMED:10891489] [PUBMED:8934531] [PUBMED:15723054] [PUBMED:9192621] [PUBMED:18042711] [PUBMED:10779353] [PUBMED:1989881] [PUBMED:8861962] [PUBMED:12529648] [PUBMED:16269333] [PUBMED:16172399] [PUBMED:8494784] [PUBMED:15282543] [PUBMED:8297793] [PUBMED:12776177] [PUBMED:9811896] [PUBMED:11103792] [PUBMED:17170079] [PUBMED:18593934] [PUBMED:11673469] [PUBMED:18408012] [PUBMED:1340466] [PUBMED:17088530] [PUBMED:8327497] [PUBMED:16423995] [PUBMED:12816956] [PUBMED:11598121] [PUBMED:14724288] [PUBMED:17848523] [PUBMED:10508165] [PUBMED:12695333] [PUBMED:17822678] [PUBMED:10606642] [PUBMED:9869632] [PUBMED:9212167] [PUBMED:19211792] [PUBMED:16287840] [PUBMED:18978814] [PUBMED:11511535] [PUBMED:15944709] [PUBMED:11604407] [PUBMED:11909865]