Description

peroxisomal membrane protein 2, 22kDa [Source:HGNC Symbol;Acc:HGNC:9716]

Synonyms

PMP22

INSDC coordinates

chromosome:GRCh38:CM000674.2:132687606:132704991:1

About this gene

This gene has 5 transcripts (splice variants), 47 orthologues, 2 paralogues, is a member of 4 Ensembl protein families and is associated with 22 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PXMP2-001ENST00000317479957195aaENSP00000321271
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9279Q9NR77 NM_018663
NP_061133
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
PXMP2-004ENST00000428960762227aaENSP00000398708
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F5GXM0 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PXMP2-002ENST00000543589632160aaENSP00000446049
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F5H4N4 -TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PXMP2-005ENST0000045437953783aaENSP00000484702
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087X249 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PXMP2-003ENST0000053909351649aaENSP00000444486
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-F5GZF7 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays