Information on REL
Basic details
Alt. symbols: I-Rel | c-Rel
Approved name: REL proto-oncogene, NF-kB subunit
Alt. names: v-rel avian reticuloendotheliosis viral oncogene homolog
Location: 2p16.1: 60881491 - 60931612 (+)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.286000 | pLI: 0.96951633 | LOEUF: 0.229
Normal function
REL encodes the proto-oncogene c-Rel, a protein member of the NF-?B family of transcription factors and contains a Rel homology domain (RHD) at its N-terminus and two C-terminal transactivation domains. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes.
Dysfunction and disease
Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [Load More]
[Reviewed by Jessica Lineth Rojas Restrepo on 2020-06-25 16:12:09]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD92 |
Immunodeficiency 92 | AR |
619652 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of REL
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000295025.12 | CCDS1864 | protein_coding | 11 | No | 11255 | NM_002908 | ||
| 202 | ENST00000394479.4 | CCDS74515 | Select | protein_coding | 10 | Yes | 11108 | NM_001291746 | |
| 204 | ENST00000699191.1 | protein_coding | No | XM_017004627 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in REL
| ID | Year | Title | Journal | PMID | Variants |
|---|