Information on NBEAL2
Basic details
Alt. symbols: KIAA0540
Approved name: neurobeachin like 2
Alt. names: neurobeachin-like 2
Location: 3p21.31: 46979666 - 47009704 (+)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.763000 | pLI: 0.86253306 | LOEUF: 0.320
Normal function
Dysfunction and disease
Gray platelet syndrome [MIM:139090] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
GPS |
Gray platelet syndrome with/without autoimmunity | AR |
Loss of Function | 139090 |
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 NBEAL2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000443829.5 | protein_coding | No | 3508 | XM_047447794 | ||||
| 201 | ENST00000416683.5 | protein_coding | No | 6364 | XM_047447791 | ||||
| 205 | ENST00000450053.8 | 1 | CCDS46817 | Select | protein_coding | 54 | Yes | 8842 | NM_015175 |
| 215 | ENST00000651747.1 | protein_coding | 53 | No | 8605 | NM_001365116 |
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 NBEAL2
| ID | Year | Title | Journal | PMID | Variants |
|---|