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

Chromosome 11: 18,278,668-18,322,198 reverse strand.

GRCh38:CM000673.2

View alleles of this gene on alternative sequences

About this gene

This gene has 11 transcripts (splice variants), 1 gene allele, 207 orthologues, 1 paralogue and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000349215.8HPS5-20148401129aaENSP00000265967.5
 
Protein coding
CCDS7836Q9UPZ3-1 NM_181507.2MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000396253.7HPS5-20347251015aaENSP00000379552.3
 
Protein coding
CCDS7837Q9UPZ3-2 -GENCODE basicTSL:1
ENST00000438420.6HPS5-20541471015aaENSP00000399590.2
 
Protein coding
CCDS7837Q9UPZ3-2 -GENCODE basicTSL:1
ENST00000531848.1HPS5-2062160400aaENSP00000431758.1
 
Protein coding
G3V159 -GENCODE basicTSL:5
ENST00000537258.1HPS5-2071275263aaENSP00000437437.1
 
Protein coding
F5H6Q8 -GENCODE basicTSL:5
ENST00000544218.5HPS5-209759160aaENSP00000441781.1
 
Protein coding
F5GWM5 -TSL:3CDS 3' incomplete
ENST00000352460.7HPS5-2021642No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000589545.1HPS5-211485No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000543728.1HPS5-208320No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000545561.1HPS5-2101121No protein-
 
Retained intron
--TSL:2
ENST00000399287.7HPS5-204711No protein-
 
Retained intron
--TSL:1