RAG2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RAG2 (HGNC:9832) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- recombination activating 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 3.71(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 0.73(Read more about gnomAD LOEUF score)
- Cytoband
- 11p12
- Genomic Coordinates
-
GRCh37/hg19: chr11:36613493-36619786 NCBI Ensembl UCSC GRCh38/hg38: chr11:36590996-36598236 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000536.4 ENST00000311485.8 (Read more about MANE Select)
- Function
- Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T- cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, gene... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-37088
ClinGen Curation ID:
CCID:007749
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Omenn syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)