GenTIGS

BRCA2 DNA repair associated (BRCA2) Associated conditions: 1. Fanconi anemia 2. Neuroblastoma 3. Familial cancer of breast 4. Ateleiotic dwarfism 5. 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_000059.4	NP_000050.3	NC_000013.11	(32315507..32400267)	Reference GRCh38.p14 Primary Assembly	P51587
2	REVIEWED	NM_001406719.1	NP_001393648.1	NC_000013.11	(32315507..32400267)	Reference GRCh38.p14 Primary Assembly	P51587
3	REVIEWED	NM_001406720.1	NP_001393649.1	NC_000013.11	(32315507..32400267)	Reference GRCh38.p14 Primary Assembly	P51587
4	REVIEWED	NM_001406721.1	NP_001393650.1	NC_000013.11	(32315507..32400267)	Reference GRCh38.p14 Primary Assembly	P51587
5	REVIEWED	NM_001406722.1	NP_001393651.1	NC_000013.11	(32315507..32400267)	Reference GRCh38.p14 Primary Assembly	P51587
6	REVIEWED	NR_176251.1	-	NC_000013.11	(32315507..32400267)	Reference GRCh38.p14 Primary Assembly	P51587

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 1 Link 2 Link 32143 reference articles

Variant Information BRCA2 DNA repair associated (BRCA2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene BRCA2 DNA repair associated (BRCA2)

ClinVar variants:Revealing mutagenic patterns

GO Term of BRCA2 DNA repair associated (BRCA2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	part_of	nuclear ubiquitin ligase complex	Component	14636569
2	Homo sapiens	IEA	involved_in	telomere maintenance via recombination	Process	-
3	Homo sapiens	IBA	involved_in	double-strand break repair via homologous recombination	Process	21873635
4	Homo sapiens	IDA	involved_in	double-strand break repair via homologous recombination	Process	20729832 28398198
5	Homo sapiens	IMP	involved_in	double-strand break repair via homologous recombination	Process	21719596
6	Homo sapiens	IDA	located_in	chromosome, telomeric region	Component	21076401
7	Homo sapiens	IDA	located_in	lateral element	Component	9774970
8	Homo sapiens	IEA	involved_in	oocyte maturation	Process	-
9	Homo sapiens	IEA	involved_in	inner cell mass cell proliferation	Process	-
10	Homo sapiens	IPI	enables	protease binding	Function	15314155
11	Homo sapiens	IDA	enables	single-stranded DNA binding	Function	20729832
12	Homo sapiens	IDA	NOT enables	histone acetyltransferase activity	Function	9824164
13	Homo sapiens	IDA	enables	protein binding	Function	9774970
14	Homo sapiens	IPI	enables	protein binding	Function	9560268 9774970 10373512 10551859 11597317 12242698 12442171 15115758 15800615 15930293 15967112 16099937 16205630 16275750 17420451 17515903 17515904 17541404 18212739 18264088 19303847 19369211 19423707 19609323 19628690 20421506 20729832 20729859 21399666 21601571 21719596 22116401 22193777 22293751 24013206 24141787 24485656 24981860 25282148 25585578 26649820 26833090 28319063 30410870 31242413 34591612
15	Homo sapiens	IBA	is_active_in	nucleus	Component	21873635
16	Homo sapiens	IDA	located_in	nucleus	Component	9560268 9774970 14636569 17286961 26833090
17	Homo sapiens	NAS	located_in	nucleus	Component	19369211
18	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
19	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
20	Homo sapiens	IDA	located_in	centrosome	Component	17286961 21276791
21	Homo sapiens	IDA	located_in	cytosol	Component	-
22	Homo sapiens	TAS	located_in	cytosol	Component	-
23	Homo sapiens	IMP	involved_in	nucleotide-excision repair	Process	16845393
24	Homo sapiens	IMP	involved_in	double-strand break repair	Process	16845393
25	Homo sapiens	IEA	involved_in	chromatin remodeling	Process	-
26	Homo sapiens	IBA	involved_in	regulation of DNA-templated transcription	Process	21873635
27	Homo sapiens	IEA	involved_in	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	Process	-
28	Homo sapiens	IEA	involved_in	male meiosis I	Process	-
29	Homo sapiens	IEA	involved_in	spermatogenesis	Process	-
30	Homo sapiens	IEA	involved_in	brain development	Process	-
31	Homo sapiens	IEA	involved_in	female gonad development	Process	-
32	Homo sapiens	IEA	involved_in	response to X-ray	Process	-
33	Homo sapiens	IEA	involved_in	response to UV-C	Process	-
34	Homo sapiens	IEA	involved_in	response to gamma radiation	Process	-
35	Homo sapiens	IDA	enables	histone H3 acetyltransferase activity	Function	9619837
36	Homo sapiens	IDA	enables	histone H4 acetyltransferase activity	Function	9619837
37	Homo sapiens	IDA	located_in	secretory granule	Component	8589722
38	Homo sapiens	IEA	involved_in	regulation of cytokinesis	Process	-
39	Homo sapiens	IDA	part_of	protein-containing complex	Component	9774970 26833090
40	Homo sapiens	IDA	part_of	BRCA2-MAGE-D1 complex	Component	15930293
41	Homo sapiens	IDA	involved_in	negative regulation of mammary gland epithelial cell proliferation	Process	15930293
42	Homo sapiens	IEA	involved_in	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	Process	-
43	Homo sapiens	IPI	enables	identical protein binding	Function	21601571 25282148
44	Homo sapiens	IPI	enables	gamma-tubulin binding	Function	17286961
45	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	9126734
46	Homo sapiens	IEA	involved_in	positive regulation of mitotic cell cycle	Process	-
47	Homo sapiens	IMP	involved_in	centrosome duplication	Process	17286961
48	Homo sapiens	IDA	involved_in	establishment of protein localization to telomere	Process	21076401
49	Homo sapiens	IEA	involved_in	hematopoietic stem cell proliferation	Process	-
50	Homo sapiens	IMP	involved_in	cellular response to ionizing radiation	Process	14636569
51	Homo sapiens	IEA	involved_in	cellular senescence	Process	-
52	Homo sapiens	IPI	part_of	DNA repair complex	Component	19369211
53	Homo sapiens	IMP	involved_in	mitotic recombination-dependent replication fork processing	Process	21076401
54	Homo sapiens	NAS	involved_in	regulation of DNA damage checkpoint	Process	14636569