Human (GRCh38.p14)
Description

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Source:HGNC Symbol;Acc:HGNC:17022]

Gene Synonyms

AIBP63, BLOC2S2, RU2

Location
About this transcript

This transcript has 11 exons, is annotated with 3 domains and features, is associated with 16542 variant alleles and maps to 257 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000671838.2HPS5-21248401129aaENSP00000500370.1
 
Protein coding
Q9UPZ3-1 -Ensembl CanonicalGENCODE basic
ENST00000672413.1HPS5-21647251015aaENSP00000499956.1
 
Protein coding
Q9UPZ3-2 -GENCODE basic
ENST00000672334.1HPS5-21441471015aaENSP00000500042.1
 
Protein coding
Q9UPZ3-2 -GENCODE basic
ENST00000673322.1HPS5-2202160400aaENSP00000500818.1
 
Protein coding
--GENCODE basic
ENST00000672381.1HPS5-2151275263aaENSP00000500840.1
 
Protein coding
--GENCODE basic
ENST00000672223.1HPS5-213759160aaENSP00000500693.1
 
Protein coding
--CDS 3' incomplete
ENST00000673434.1HPS5-2211642No protein-
 
Protein coding CDS not defined
---
ENST00000673145.1HPS5-219485No protein-
 
Protein coding CDS not defined
---
ENST00000673578.1HPS5-222320No protein-
 
Protein coding CDS not defined
---
ENST00000672622.1HPS5-2171121No protein-
 
Retained intron
---
ENST00000673098.1HPS5-218711No protein-
 
Retained intron
---
Statistics

Exons: 11, Coding exons: 8, Transcript length: 2,160 bps, Translation length: 400 residues

Version

ENST00000673322.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project, projected to the alternate locus via a mapping from the primary assembly.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.