GenTIGSA Gene Database on Rare Genetic Disorders

Partner and localizer of BRCA2 (PALB2) Associated conditions:  1. Lynch syndrome  2. Fanconi anemia  3. Hereditary breast ovarian cancer syndrome  4. Familial cancer of breast 
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_001407306.1 NP_001394235.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
2 REVIEWED NM_024675.4 NP_078951.2 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
3 REVIEWED NM_001407314.1 NP_001394243.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
4 REVIEWED NM_001407313.1 NP_001394242.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
5 REVIEWED NM_001407312.1 NP_001394241.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
6 REVIEWED NM_001407311.1 NP_001394240.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
7 REVIEWED NM_001407310.1 NP_001394239.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
8 REVIEWED NM_001407309.1 NP_001394238.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
9 REVIEWED NM_001407308.1 NP_001394237.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
10 REVIEWED NM_001407307.1 NP_001394236.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
11 REVIEWED NM_001407296.1 NP_001394225.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
12 REVIEWED NM_001407305.1 NP_001394234.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
13 REVIEWED NM_001407304.1 NP_001394233.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
14 REVIEWED NM_001407302.1 NP_001394231.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
15 REVIEWED NM_001407301.1 NP_001394230.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
16 REVIEWED NM_001407300.1 NP_001394229.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
17 REVIEWED NM_001407299.1 NP_001394228.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
18 REVIEWED NM_001407298.1 NP_001394227.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2
19 REVIEWED NM_001407297.1 NP_001394226.1 NC_000016.10 (23603164..23641309, complement) Reference GRCh38.p14 Primary Assembly Q86YC2

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 1274 reference articles

Variant Information Partner and localizer of BRCA2 (PALB2Mutation Visualization Dashboard: Pathogenic variant distribution chart

 

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Partner and localizer of BRCA2 (PALB2)
ClinVar variants:Revealing mutagenic patterns

GO Term of Partner and localizer of BRCA2 (PALB2)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIBAinvolved_indouble-strand break repair via homologous recombinationProcess21873635 
2Homo sapiensIDAinvolved_indouble-strand break repair via homologous recombinationProcess19369211 19423707 28398198 
3Homo sapiensIMPinvolved_indouble-strand break repair via homologous recombinationProcess26323318 
4Homo sapiensIEAinvolved_insomitogenesisProcess
5Homo sapiensIEAinvolved_ininner cell mass cell proliferationProcess
6Homo sapiensIBAenablesDNA bindingFunction21873635 
7Homo sapiensIDAenablesDNA bindingFunction20871616 
8Homo sapiensIPIenablesprotein bindingFunction17420451 19369211 19423707 
19609323 20332121 20871616 
22193777 22244764 22293751 
24141787 24485656 25960410 
26649820 26833090 28319063 
28514442 29656893 30410870 
32296183 34591612 
9Homo sapiensNASlocated_innucleusComponent19369211 
10Homo sapiensIBAis_active_innucleoplasmComponent21873635 
11Homo sapiensIDAlocated_innucleoplasmComponent
12Homo sapiensTASlocated_innucleoplasmComponent
13Homo sapiensIEAinvolved_inapoptotic processProcess
14Homo sapiensIEAinvolved_inmesoderm developmentProcess
15Homo sapiensIEAinvolved_inanimal organ morphogenesisProcess
16Homo sapiensIDAlocated_innuclear speckComponent
17Homo sapiensIDApart_ofprotein-containing complexComponent26833090 
18Homo sapiensIEAinvolved_inmulticellular organism growthProcess
19Homo sapiensIEAinvolved_inpost-anal tail morphogenesisProcess
20Homo sapiensIEAinvolved_innegative regulation of apoptotic processProcess
21Homo sapiensIEAinvolved_inembryonic organ developmentProcess
22Homo sapiensIPIpart_ofDNA repair complexComponent19369211