Information on MAN2B2
Basic details
Alt. symbols: KIAA0935
Approved name: mannosidase alpha class 2B member 2
Alt. names: mannosidase, alpha, class 2B, member 2 | core-specific lysosomal alpha-1,6-Mannosidase
Location: 4p16.1: 6575189 - 6623362 (+)
Gene type: protein_coding, 5 transcripts.
Scores: LoFtool: 0.322000 | pLI: 0.00000000 | LOEUF: 1.011
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 |
|---|---|---|---|---|---|
CID37 |
Combined immunodeficiency 37 | AR |
Loss of Function | - | 1 (1 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 MAN2B2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000285599.8 | CCDS33951 | Select | protein_coding | 19 | Yes | 5129 | NM_015274 | |
| 202 | ENST00000504248.5 | CCDS77898 | protein_coding | 19 | No | 2968 | NM_001292038 |
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 MAN2B2
| ID | Year | Title | Journal | PMID | Variants |
|---|