Description

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 [Source:HGNC Symbol;Acc:HGNC:15844]

Synonyms

LE, BLOC3S2, KIAA1667

Location

Chromosome 22: 26,443,423-26,483,837 reverse strand.

GRCh38:CM000684.2

About this gene

This gene has 18 transcripts (splice variants), 61 orthologues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HPS4-202ENST00000398145.64497708aaENSP00000381213
 
Protein coding
CCDS13835Q9NQG7 NM_022081
NP_001336825
NP_001336827
NP_001336828
NP_001336829
NP_001336830
NP_001336833
NP_001336834
NP_071364
TSL:1GENCODE basicAPPRIS P1
HPS4-201ENST00000336873.93786708aaENSP00000338457
 
Protein coding
CCDS13835Q9NQG7 NP_001336825
NP_001336827
NP_001336828
NP_001336829
NP_001336830
NP_001336833
NP_001336834
TSL:5GENCODE basicAPPRIS P1
HPS4-203ENST00000402105.73562703aaENSP00000384185
 
Protein coding
CCDS46677Q9NQG7 NM_152841
NP_690054
TSL:1GENCODE basic
HPS4-204ENST00000422379.21942481aaENSP00000415081
 
Protein coding
-F1LLU8 -CDS 3' incompleteTSL:5
HPS4-208ENST00000464362.54277167aaENSP00000430291
 
Nonsense mediated decay
-E5RG08 -TSL:5
HPS4-206ENST00000439453.53936196aaENSP00000406764
 
Nonsense mediated decay
-F8WC53 NR_073135
TSL:1
HPS4-205ENST00000429411.53492191aaENSP00000399705
 
Nonsense mediated decay
-F8VYA9 NR_073136
TSL:2
HPS4-216ENST00000493455.6986No protein-
 
Processed transcript
---TSL:3
HPS4-213ENST00000483631.1737No protein-
 
Processed transcript
---TSL:3
HPS4-211ENST00000479064.5697No protein-
 
Processed transcript
---TSL:3
HPS4-210ENST00000473782.1575No protein-
 
Processed transcript
---TSL:2
HPS4-207ENST00000459918.1556No protein-
 
Processed transcript
---TSL:5
HPS4-215ENST00000491142.1486No protein-
 
Processed transcript
---TSL:2
HPS4-218ENST00000519774.5471No protein-
 
Processed transcript
---TSL:2
HPS4-209ENST00000466781.56136No protein-
 
Retained intron
---TSL:1
HPS4-217ENST00000496385.52772No protein-
 
Retained intron
---TSL:2
HPS4-212ENST00000481910.11914No protein-
 
Retained intron
---TSL:2
HPS4-214ENST00000485842.5973No protein-
 
Retained intron
---TSL:3

Gene-based displays