GenTIGS

Nibrin (NBN) Associated conditions: 1. Microcephaly, normal intelligence and immunodeficiency 2. Hereditary breast ovarian cancer syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001024688.3	NP_001019859.1	NC_000008.11	(89933330..89984666, complement)	Reference GRCh38.p14 Primary Assembly	O60934
2	REVIEWED	NM_002485.5	NP_002476.2	NC_000008.11	(89933330..89984666, complement)	Reference GRCh38.p14 Primary Assembly	O60934

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1566 reference articles

Variant Information Nibrin (NBN) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Nibrin (NBN)

ClinVar variants:Revealing mutagenic patterns

GO Term of Nibrin (NBN)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	acts_upstream_of_or_within	DNA damage checkpoint signaling	Process	12529385
2	Homo sapiens	IMP	involved_in	telomere maintenance	Process	11448772
3	Homo sapiens	IBA	involved_in	double-strand break repair via homologous recombination	Process	21873635
4	Homo sapiens	NAS	involved_in	DNA double-strand break processing	Process	26512707
5	Homo sapiens	HDA	located_in	chromosome, telomeric region	Component	19135898
6	Homo sapiens	IDA	located_in	chromosome, telomeric region	Component	10888888
7	Homo sapiens	ISS	colocalizes_with	chromosome, telomeric region	Component	-
8	Homo sapiens	IEA	involved_in	blastocyst growth	Process	-
9	Homo sapiens	IBA	enables	damaged DNA binding	Function	21873635
10	Homo sapiens	IC	contributes_to	damaged DNA binding	Function	9590180
11	Homo sapiens	IPI	enables	protein binding	Function	9590181 12419185 12470659 12607005 15916964 16377563 17500065 17612497 18001824 18001825 18583988 18678890 19609304 19683501 19759395 19804756 20224574 21108945 22078559 22157895 22565321 24534091 24651726 24981860 25064736 25558984 25895060 26869104 27568553 29656893
12	Homo sapiens	IDA	located_in	nucleus	Component	10888888
13	Homo sapiens	NAS	located_in	nucleus	Component	18171670
14	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
15	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
16	Homo sapiens	IEA	located_in	replication fork	Component	-
17	Homo sapiens	IDA	located_in	nucleolus	Component	10888888
18	Homo sapiens	IDA	located_in	Golgi apparatus	Component	-
19	Homo sapiens	TAS	located_in	cytosol	Component	-
20	Homo sapiens	IDA	involved_in	double-strand break repair	Process	9590181
21	Homo sapiens	IBA	involved_in	mitotic G2 DNA damage checkpoint signaling	Process	21873635
22	Homo sapiens	IDA	involved_in	mitotic G2 DNA damage checkpoint signaling	Process	11438675
23	Homo sapiens	IEA	involved_in	neuroblast proliferation	Process	-
24	Homo sapiens	IDA	located_in	PML body	Component	10811102 12470659
25	Homo sapiens	TAS	involved_in	regulation of DNA-templated DNA replication initiation	Process	9590181
26	Homo sapiens	TAS	involved_in	DNA damage response, signal transduction by p53 class mediator	Process	9590181
27	Homo sapiens	IBA	part_of	Mre11 complex	Component	21873635
28	Homo sapiens	IDA	part_of	Mre11 complex	Component	9590181 10888888 19151086
29	Homo sapiens	IPI	part_of	Mre11 complex	Component	31147924
30	Homo sapiens	TAS	part_of	Mre11 complex	Component	27918544
31	Homo sapiens	IMP	involved_in	telomeric 3' overhang formation	Process	16374507
32	Homo sapiens	IDA	involved_in	positive regulation of protein autophosphorylation	Process	15790808
33	Homo sapiens	IMP	involved_in	positive regulation of telomere maintenance	Process	16374507
34	Homo sapiens	IBA	involved_in	DNA duplex unwinding	Process	21873635
35	Homo sapiens	IMP	involved_in	DNA duplex unwinding	Process	15790808
36	Homo sapiens	IDA	involved_in	positive regulation of kinase activity	Process	15790808
37	Homo sapiens	NAS	involved_in	homologous recombination	Process	30657944
38	Homo sapiens	IDA	located_in	site of double-strand break	Component	15916964
39	Homo sapiens	IDA	located_in	nuclear inclusion body	Component	12447371
40	Homo sapiens	NAS	involved_in	mitotic G2/M transition checkpoint	Process	22369660
41	Homo sapiens	IEA	involved_in	isotype switching	Process	-
42	Homo sapiens	IEA	involved_in	neuromuscular process controlling balance	Process	-
43	Homo sapiens	IEA	involved_in	meiotic cell cycle	Process	-
44	Homo sapiens	TAS	involved_in	regulation of cell cycle	Process	9590181
45	Homo sapiens	IPI	part_of	BRCA1-C complex	Component	16391231
46	Homo sapiens	IMP	involved_in	t-circle formation	Process	27918544
47	Homo sapiens	IGI	involved_in	telomere maintenance via telomere trimming	Process	27918544
48	Homo sapiens	IEA	involved_in	intrinsic apoptotic signaling pathway	Process	-
49	Homo sapiens	NAS	located_in	chromosomal region	Component	26512707
50	Homo sapiens	NAS	involved_in	DNA strand resection involved in replication fork processing	Process	29709199
51	Homo sapiens	IPI	enables	DNA-binding transcription factor binding	Function	11486038
52	Homo sapiens	IMP	involved_in	negative regulation of telomere capping	Process	17694070