Gene: JPH2 ENSG00000149596

Description

junctophilin 2 [Source:HGNC Symbol;Acc:14202]

Gene Synonyms

CMH17, JP-2, JP2

Location

GRCh37:CM000682.1

About this gene

This gene has 2 transcripts (splice variants), 3 paralogues and is associated with 2 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000372980.3	JPH2-001	4787	696aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13325	B4E3T9 Q86VZ3 Q9BR39	NM_020433.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000342272.3	JPH2-002	1923	129aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13326	Q9BR39	NM_175913.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

Summary

Name

JPH2 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q9BR39

CCDS

This gene is a member of the Human CCDS set: CCDS13325.1, CCDS13326.1

LRG

LRG_394 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000149596.6

Other assemblies

This gene maps to 44,111,695-44,187,578 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000033037 (version 1)

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