GenTIGS

Recombination activating 2 (RAG2) Associated conditions: 1. Severe combined immunodeficiency disease 2. Histiocytic medullary reticulosis 3. Common variable immunodeficiency

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_000536.4	NP_000527.2	NC_000011.10	(36590995..36598235, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001243785.2	NP_001230714.1	NC_000011.10	(36590995..36598235, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001243786.2	NP_001230715.1	NC_000011.10	(36590995..36598235, 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 1105 reference articles

Variant Information Recombination activating 2 (RAG2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Recombination activating 2 (RAG2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	mature B cell differentiation involved in immune response	Process	-
2	Homo sapiens	IEA	involved_in	pre-B cell allelic exclusion	Process	-
3	Homo sapiens	ISS	involved_in	pre-B cell allelic exclusion	Process	-
4	Homo sapiens	IEA	enables	DNA binding	Function	-
5	Homo sapiens	IEA	enables	chromatin binding	Function	-
6	Homo sapiens	ISS	enables	chromatin binding	Function	-
7	Homo sapiens	IEA	enables	phosphatidylinositol-4,5-bisphosphate binding	Function	-
8	Homo sapiens	ISS	enables	phosphatidylinositol-4,5-bisphosphate binding	Function	-
9	Homo sapiens	IEA	enables	phosphatidylinositol-3,4,5-trisphosphate binding	Function	-
10	Homo sapiens	ISS	enables	phosphatidylinositol-3,4,5-trisphosphate binding	Function	-
11	Homo sapiens	IEA	located_in	nucleus	Component	-
12	Homo sapiens	IEA	located_in	nucleoplasm	Component	-
13	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
14	Homo sapiens	IEA	involved_in	DNA recombination	Process	-
15	Homo sapiens	IEA	involved_in	chromatin organization	Process	-
16	Homo sapiens	IEA	enables	zinc ion binding	Function	-
17	Homo sapiens	ISS	enables	zinc ion binding	Function	-
18	Homo sapiens	ISS	involved_in	B cell differentiation	Process	-
19	Homo sapiens	ISS	involved_in	T cell differentiation in thymus	Process	-
20	Homo sapiens	IEA	involved_in	negative regulation of T cell differentiation in thymus	Process	-
21	Homo sapiens	IBA	involved_in	V(D)J recombination	Process	-
22	Homo sapiens	IEA	involved_in	V(D)J recombination	Process	-
23	Homo sapiens	ISS	involved_in	V(D)J recombination	Process	-
24	Homo sapiens	IEA	enables	phosphatidylinositol binding	Function	-
25	Homo sapiens	ISS	enables	phosphatidylinositol binding	Function	-
26	Homo sapiens	IEA	enables	phosphatidylinositol-3,4-bisphosphate binding	Function	-
27	Homo sapiens	ISS	enables	phosphatidylinositol-3,4-bisphosphate binding	Function	-
28	Homo sapiens	IBA	enables	sequence-specific DNA binding	Function	-
29	Homo sapiens	IEA	enables	metal ion binding	Function	-
30	Homo sapiens	IEA	enables	phosphatidylinositol-3,5-bisphosphate binding	Function	-
31	Homo sapiens	ISS	enables	phosphatidylinositol-3,5-bisphosphate binding	Function	-
32	Homo sapiens	IBA	part_of	DNA recombinase complex	Component	-
33	Homo sapiens	IEA	enables	histone H3K4me3 reader activity	Function	-
34	Homo sapiens	ISS	enables	histone H3K4me3 reader activity	Function	-