Information on CXCR2
Basic details
Alt. symbols: IL8RB | CMKAR2 | CD182
Approved name: C-X-C motif chemokine receptor 2
Alt. names: interleukin 8 receptor, beta, chemokine (C-X-C motif) receptor 2
Location: 2q35: 218125289 - 218137251 (+)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.475000 | pLI: 0.40528440 | LOEUF: 1.132
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
WHIMS2 |
WHIM syndrome 2 | AR |
619407 |
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 CXCR2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000318507.7 | CCDS2408 | Select | protein_coding | 3 | Yes | 2853 | NM_001168298,NM_001557 |
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 CXCR2
| ID | Year | Title | Journal | PMID | Variants |
|---|