Description

autoimmune regulator [Source:HGNC Symbol;Acc:HGNC:360]

Synonyms

APECED, APS1, PGA1

Location

Chromosome 21: 44,285,838-44,298,648 forward strand.

GRCh38:CM000683.2

About this gene

This gene has 5 transcripts (splice variants), 56 orthologues, 4 paralogues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
AIRE-001ENST000002915822257545aaENSP00000291582
 
Protein coding
CCDS13706O43918 NM_000383
NP_000374
TSL:1GENCODE basicAPPRIS P1
AIRE-005ENST000005308124306No protein-
 
Retained intron
---TSL:2
AIRE-004ENST000005279192409No protein-
 
Retained intron
---TSL:2
AIRE-006ENST000003379091361No protein-
 
Retained intron
---TSL:1
AIRE-007ENST000003979941279No protein-
 
Retained intron
---TSL:5

Gene-based displays