Description
peripheral myelin protein 22 [Source:HGNC Symbol;Acc:9118]
Gene Synonyms
CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
Location
Chromosome 17: 15,133,095-15,168,643 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 8 transcripts (splice variants), 3 paralogues and is associated with 11 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000395938.2 | PMP22-001 | 1817 | 160aa | ENSP00000379269.2 | Protein coding | CCDS11168 | B4DUL1 Q01453 Q6FH25 | NM_153321.2 | Ensembl Canonical, GENCODE basic, |
ENST00000312280.3 | PMP22-002 | 1810 | 160aa | ENSP00000308937.3 | Protein coding | CCDS11168 | B4DUL1 Q01453 Q6FH25 | NM_153322.2 | GENCODE basic, |
ENST00000494511.1 | PMP22-004 | 872 | 161aa | ENSP00000462782.1 | Protein coding | J3KT36 J3QS08 | - | GENCODE basic, | |
ENST00000395936.1 | PMP22-003 | 816 | 118aa | ENSP00000379268.1 | Protein coding | A8MU75 | - | GENCODE basic, | |
ENST00000426385.3 | PMP22-008 | 571 | 125aa | ENSP00000409824.3 | Protein coding | J3KQW0 | - | GENCODE basic, | |
ENST00000580584.1 | PMP22-006 | 428 | 51aa | ENSP00000464468.1 | Protein coding | J3QS08 | - | CDS 3' incomplete, | |
ENST00000471150.2 | PMP22-005 | 637 | No protein | - | Retained intron | - | - | - | |
ENST00000580497.1 | PMP22-007 | 576 | No protein | - | Retained intron | - | - | - |