Description
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Source:HGNC Symbol;Acc:HGNC:17022]
Gene Synonyms
AIBP63, BLOC2S2, RU2
Location
Scaffold HG2111_PATCH: 27,494-71,024 reverse strand.
GRCh38:ML143360.1
View this gene on the primary assembly.
About this gene
This gene has 11 transcripts (splice variants), 1 gene allele and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000671838.2 | HPS5-212 | 4840 | 1129aa | ENSP00000500370.1 | Protein coding | Q9UPZ3-1 | - | Ensembl Canonical, GENCODE basic, | |
| ENST00000672413.1 | HPS5-216 | 4725 | 1015aa | ENSP00000499956.1 | Protein coding | Q9UPZ3-2 | - | GENCODE basic, | |
| ENST00000672334.1 | HPS5-214 | 4147 | 1015aa | ENSP00000500042.1 | Protein coding | Q9UPZ3-2 | - | GENCODE basic, | |
| ENST00000673322.1 | HPS5-220 | 2160 | 400aa | ENSP00000500818.1 | Protein coding | - | - | GENCODE basic, | |
| ENST00000672381.1 | HPS5-215 | 1275 | 263aa | ENSP00000500840.1 | Protein coding | - | - | GENCODE basic, | |
| ENST00000672223.1 | HPS5-213 | 759 | 160aa | ENSP00000500693.1 | Protein coding | - | - | CDS 3' incomplete, | |
| ENST00000673434.1 | HPS5-221 | 1642 | No protein | - | Protein coding CDS not defined | - | - | - | |
| ENST00000673145.1 | HPS5-219 | 485 | No protein | - | Protein coding CDS not defined | - | - | - | |
| ENST00000673578.1 | HPS5-222 | 320 | No protein | - | Protein coding CDS not defined | - | - | - | |
| ENST00000672622.1 | HPS5-217 | 1121 | No protein | - | Retained intron | - | - | - | |
| ENST00000673098.1 | HPS5-218 | 711 | No protein | - | Retained intron | - | - | - |
