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: 27,885-71,000 reverse strand.
About this transcript
This transcript has 22 exons, is annotated with 14 domains and features and maps to 600 oligo probes.
Gene
This transcript is a product of gene ENSG00000288445.2 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000671838.2 | HPS5-212 | 4840 | 1129aa | ENSP00000500370.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPZ3-1 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000672413.1 | HPS5-216 | 4725 | 1015aa | ENSP00000499956.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPZ3-2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000672334.1 | HPS5-214 | 4147 | 1015aa | ENSP00000500042.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPZ3-2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000673322.1 | HPS5-220 | 2160 | 400aa | ENSP00000500818.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000672381.1 | HPS5-215 | 1275 | 263aa | ENSP00000500840.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000672223.1 | HPS5-213 | 759 | 160aa | ENSP00000500693.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000673434.1 | HPS5-221 | 1642 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | - | |
| ENST00000673145.1 | HPS5-219 | 485 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | - | |
| ENST00000673578.1 | HPS5-222 | 320 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | - | |
| ENST00000672622.1 | HPS5-217 | 1121 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000673098.1 | HPS5-218 | 711 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |