Information on AP3B1
Alt. symbols: ADTB3A | HPS2
Approved name: adaptor related protein complex 3 subunit beta 1
Alt. names: adaptor related protein complex 3 beta 1 subunit
Location: 5q14.1: 77991640 - 78294762 (-)
Gene type: protein_coding, 29 transcripts.
Scores: LoFtool: 0.483000 | pLI: 0.99538603 | LOEUF: 0.344
Gene Ontology (GO)
- Molecular function:
- Cell component:
- Biological process: vesicle-mediated transport [GO:0016192]; anterograde synaptic vesicle transport [GO:0048490]
Normal function
Dysfunction and disease
Hermansky-Pudlak syndrome 2 [MIM:608233]. Biallelic mutations in AP3B1 cause Hermansky-Pudlak syndrome 2. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HPS2 |
Hermansky-Pudlak syndrome 2 | AR |
608233 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of AP3B1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000519295.7 | CCDS64186 | protein_coding | 27 | No | 3986 | NM_001271769 | ||
| 201 | ENST00000255194.11 | 1 | CCDS4041 | Select | protein_coding | 27 | Yes | 3980 | NM_003664 |
| 205 | ENST00000519888.6 | processed_transcript | No | NM_001410752 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 AP3B1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|