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	-
2	REVIEWED	NM_001440379.1	NP_001427308.1	NC_000008.11	(89933330..89984666, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001440380.1	NP_001427309.1	NC_000008.11	(89933330..89984666, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_002485.5	NP_002476.2	NC_000008.11	(89933330..89984666, complement)	Reference GRCh38.p14 Primary Assembly	-

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 1602 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	IEA	involved_in	telomere maintenance	Process	-
3	Homo sapiens	IMP	involved_in	telomere maintenance	Process	11448772
4	Homo sapiens	IBA	involved_in	double-strand break repair via homologous recombination	Process	-
5	Homo sapiens	IDA	involved_in	double-strand break repair via homologous recombination	Process	22464731 23115235 27814491 27889449 28867292 30787182 30952868 38961290
6	Homo sapiens	IDA	involved_in	DNA double-strand break processing	Process	16622404
7	Homo sapiens	NAS	involved_in	DNA double-strand break processing	Process	26512707
8	Homo sapiens	HDA	located_in	chromosome, telomeric region	Component	19135898
9	Homo sapiens	IDA	is_active_in	chromosome, telomeric region	Component	28216226
10	Homo sapiens	IDA	located_in	chromosome, telomeric region	Component	10888888
11	Homo sapiens	IEA	colocalizes_with	chromosome, telomeric region	Component	-
12	Homo sapiens	IEA	located_in	chromosome, telomeric region	Component	-
13	Homo sapiens	ISS	colocalizes_with	chromosome, telomeric region	Component	-
14	Homo sapiens	IEA	involved_in	in utero embryonic development	Process	-
15	Homo sapiens	IEA	involved_in	blastocyst growth	Process	-
16	Homo sapiens	IBA	enables	damaged DNA binding	Function	-
17	Homo sapiens	IC	contributes_to	damaged DNA binding	Function	9590180
18	Homo sapiens	IEA	enables	damaged DNA binding	Function	-
19	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
20	Homo sapiens	IDA	located_in	nucleus	Component	10888888
21	Homo sapiens	IEA	located_in	nucleus	Component	-
22	Homo sapiens	NAS	located_in	nucleus	Component	18171670
23	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
24	Homo sapiens	IEA	located_in	nucleoplasm	Component	-
25	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
26	Homo sapiens	IEA	located_in	replication fork	Component	-
27	Homo sapiens	IEA	located_in	chromosome	Component	-
28	Homo sapiens	IDA	located_in	nucleolus	Component	10888888
29	Homo sapiens	TAS	located_in	cytosol	Component	-
30	Homo sapiens	IEA	involved_in	DNA repair	Process	-
31	Homo sapiens	IDA	involved_in	double-strand break repair	Process	9590181
32	Homo sapiens	IEA	involved_in	double-strand break repair	Process	-
33	Homo sapiens	IEA	involved_in	DNA damage response	Process	-
34	Homo sapiens	IBA	involved_in	mitotic G2 DNA damage checkpoint signaling	Process	-
35	Homo sapiens	IDA	involved_in	mitotic G2 DNA damage checkpoint signaling	Process	11438675
36	Homo sapiens	IEA	involved_in	mitotic G2 DNA damage checkpoint signaling	Process	-
37	Homo sapiens	IDA	located_in	PML body	Component	10811102 12470659
38	Homo sapiens	IEA	located_in	PML body	Component	-
39	Homo sapiens	TAS	involved_in	regulation of DNA-templated DNA replication initiation	Process	9590181
40	Homo sapiens	TAS	involved_in	DNA damage response, signal transduction by p53 class mediator	Process	9590181
41	Homo sapiens	IBA	part_of	Mre11 complex	Component	-
42	Homo sapiens	IDA	part_of	Mre11 complex	Component	9590181 10888888 19151086 27889449 28867292 30787182 38961290
43	Homo sapiens	IEA	part_of	Mre11 complex	Component	-
44	Homo sapiens	TAS	part_of	Mre11 complex	Component	27918544
45	Homo sapiens	IDA	involved_in	protection from non-homologous end joining at telomere	Process	28216226
46	Homo sapiens	IEA	involved_in	protection from non-homologous end joining at telomere	Process	-
47	Homo sapiens	IMP	involved_in	telomeric 3' overhang formation	Process	16374507
48	Homo sapiens	IMP	involved_in	positive regulation of telomere maintenance	Process	16374507
49	Homo sapiens	NAS	involved_in	homologous recombination	Process	30657944
50	Homo sapiens	IDA	is_active_in	site of double-strand break	Component	16622404 18411307 18582474 18583988 18678890 19338747 23115235 24534091 28867292 38961290
51	Homo sapiens	IDA	located_in	site of double-strand break	Component	15916964
52	Homo sapiens	IPI	enables	histone binding	Function	19338747
53	Homo sapiens	IDA	located_in	nuclear inclusion body	Component	12447371
54	Homo sapiens	IDA	involved_in	telomere maintenance in response to DNA damage	Process	28216226
55	Homo sapiens	IEA	involved_in	telomere maintenance in response to DNA damage	Process	-
56	Homo sapiens	IDA	enables	protein serine/threonine kinase activator activity	Function	16622404
57	Homo sapiens	NAS	involved_in	mitotic G2/M transition checkpoint	Process	22369660
58	Homo sapiens	IEA	involved_in	isotype switching	Process	-
59	Homo sapiens	IEA	involved_in	meiotic cell cycle	Process	-
60	Homo sapiens	TAS	involved_in	regulation of cell cycle	Process	9590181
61	Homo sapiens	IDA	involved_in	R-loop processing	Process	31537797
62	Homo sapiens	ISS	involved_in	protein K63-linked ubiquitination	Process	-
63	Homo sapiens	IMP	involved_in	t-circle formation	Process	27918544
64	Homo sapiens	IGI	involved_in	telomere maintenance via telomere trimming	Process	27918544
65	Homo sapiens	IDA	involved_in	double-strand break repair via alternative nonhomologous end joining	Process	28216226
66	Homo sapiens	IEA	involved_in	double-strand break repair via alternative nonhomologous end joining	Process	-
67	Homo sapiens	NAS	located_in	chromosomal region	Component	26512707
68	Homo sapiens	IDA	involved_in	DNA strand resection involved in replication fork processing	Process	27814491 27889449 30787182
69	Homo sapiens	NAS	involved_in	DNA strand resection involved in replication fork processing	Process	29709199
70	Homo sapiens	IDA	enables	phosphorylation-dependent protein binding	Function	18411307 18582474 18583988 18678890 19804756 24534091 27814491 30787182
71	Homo sapiens	IPI	enables	DNA-binding transcription factor binding	Function	11486038
72	Homo sapiens	IDA	enables	chromatin-protein adaptor activity	Function	18411307 18583988 19804756 24534091 27814491 27889449 28216226 30787182 38961290
73	Homo sapiens	IEA	enables	chromatin-protein adaptor activity	Function	-
74	Homo sapiens	IMP	involved_in	negative regulation of telomere capping	Process	17694070
75	Homo sapiens	ISS	involved_in	positive regulation of double-strand break repair via homologous recombination	Process	-
76	Homo sapiens	IDA	involved_in	protein localization to site of double-strand break	Process	18411307 18583988 24534091 27814491 27889449
77	Homo sapiens	IMP	involved_in	positive regulation of double-strand break repair	Process	15790808