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RELBView Gene Facts |
Gene Facts External Data Attribution
- HGNC Symbol
- RELB (HGNC:9956) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RELB proto-oncogene, NF-kB subunit
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- REL-B
- GenCC Classifications
- Limited2 (Read more about GenCC Classifications)
- %HI
- 38.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD v4.0 pLI score)
- LOEUF
- 0.51(Read more about gnomAD v4.0 LOEUF score)
pLI and LOEUF metrics based on ENST00000221452 transcript - ACMG SF v3.2 Gene?
- No
- Cytoband
- 19q13.32
- Genomic Coordinates
-
GRCh37/hg19: chr19:45504722-45541450 NCBI Ensembl UCSC GRCh38/hg38: chr19:45001464-45038192 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006509.4 ENST00000221452.13 (Read more about MANE Select)
- Function
- NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences ... (Source: Uniprot)
Gene-Disease Validity
