JUP junction plakoglobin [Homo sapiens (human)] - Gene

Summary

Official Symbol: JUPprovided by HGNC
Official Full Name: junction plakoglobinprovided by HGNC
Primary source: HGNC:HGNC:6207
See related: Ensembl:ENSG00000173801 MIM:173325; AllianceGenome:HGNC:6207
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PG; DP3; PDGB; PKGB; CTNNG; DPIII
Summary: This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
Expression: Broad expression in skin (RPKM 236.9), esophagus (RPKM 189.1) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41754609..41786711, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42611153..42643244, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39910861..39942963, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRIM50 Inhibits Gastric Cancer Progression by Regulating the Ubiquitination and Nuclear Translocation of JUP.
Title: TRIM50 Inhibits Gastric Cancer Progression by Regulating the Ubiquitination and Nuclear Translocation of JUP.
Plakoglobin and High-Mobility Group Box 1 Mediate Intestinal Epithelial Cell Apoptosis Induced by Clostridioides difficile TcdB.
Title: Plakoglobin and High-Mobility Group Box 1 Mediate Intestinal Epithelial Cell Apoptosis Induced by Clostridioides difficile TcdB.
ICAT promotes colorectal cancer metastasis via binding to JUP and activating the NF-kappaB signaling pathway.
Title: ICAT promotes colorectal cancer metastasis via binding to JUP and activating the NF-κB signaling pathway.
Opposing prognostic relevance of junction plakoglobin in distinct prostate cancer patient subsets.
Title: Opposing prognostic relevance of junction plakoglobin in distinct prostate cancer patient subsets.
KRT13 promotes stemness and drives metastasis in breast cancer through a plakoglobin/c-Myc signaling pathway.
Title: KRT13 promotes stemness and drives metastasis in breast cancer through a plakoglobin/c-Myc signaling pathway.
Ral GEF with the PH Domain and SH3 Binding Motif 1 Regulated by Splicing Factor Junction Plakoglobin and Pyrimidine Metabolism Are Prognostic in Uterine Carcinosarcoma.
Title: Ral GEF with the PH Domain and SH3 Binding Motif 1 Regulated by Splicing Factor Junction Plakoglobin and Pyrimidine Metabolism Are Prognostic in Uterine Carcinosarcoma.
JUP/plakoglobin is regulated by salt-inducible kinase 2, and is required for insulin-induced signalling and glucose uptake in adipocytes.
Title: JUP/plakoglobin is regulated by salt-inducible kinase 2, and is required for insulin-induced signalling and glucose uptake in adipocytes.
Junction plakoglobin regulates and destabilizes HIF2alpha to inhibit tumorigenesis of renal cell carcinoma.
Title: Junction plakoglobin regulates and destabilizes HIF2α to inhibit tumorigenesis of renal cell carcinoma.
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Title: Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Plakoglobin is involved in cytoskeletal rearrangement of podocytes under the regulation of UCH-L1.
Title: Plakoglobin is involved in cytoskeletal rearrangement of podocytes under the regulation of UCH-L1.

Submit: New GeneRIF Correction See all GeneRIFs (93)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	Compare labs
Arrhythmogenic right ventricular dysplasia 12 MedGen: C1969081 OMIM: 611528 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	Compare labs
Naxos disease MedGen: C1832600 OMIM: 601214 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Jup (e-PCR), detects polymorphism
- UniSTS:143648

RH17679 (e-PCR)
- UniSTS:54645

G07167 (e-PCR)
- UniSTS:55163

JUP (e-PCR)
- UniSTS:44727

SHGC-30259 (e-PCR)
- UniSTS:80066

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cell adhesion molecule binding	IPI Inferred from Physical Interaction more info	PubMed
enables cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC Inferred by Curator more info	PubMed
enables cytoskeletal protein-membrane anchor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to indole-3-methanol	IDA Inferred from Direct Assay more info	PubMed
involved_in desmosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in desmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in endothelial cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of blood vessel endothelial cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IC Inferred by Curator more info	PubMed
involved_in positive regulation of cell-matrix adhesion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of catenin complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
part_of gamma-catenin-TCF7L2 complex	IDA Inferred from Direct Assay more info	PubMed
NOT located_in hemidesmosome	ISS Inferred from Sequence or Structural Similarity more info
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-DNA complex	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in zonula adherens	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: junction plakoglobin

Names: catenin (cadherin-associated protein), gamma 80kDa; desmoplakin III; desmoplakin-3; desmosomal protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009090.2 RefSeqGene

Range

5001..37106

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_401

mRNA and Protein(s)

NM_001352773.2 → NP_001339702.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
NM_001352774.2 → NP_001339703.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks alternate segments in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
NM_001352775.2 → NP_001339704.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks alternate segments in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
NM_001352776.2 → NP_001339705.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple differences in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
NM_001352777.2 → NP_001339706.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (7) has a novel exon in the 5' UTR and lacks an alternate segment in the 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
NM_002230.4 → NP_002221.1 junction plakoglobin

See identical proteins and their annotated locations for NP_002221.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate segment in the 5' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Related

ENSP00000377508.3, ENST00000393931.8

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
NM_021991.4 → NP_068831.1 junction plakoglobin

See identical proteins and their annotated locations for NP_068831.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Related

ENSP00000311113.5, ENST00000310706.9

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

41754609..41786711 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435939.1 → XP_047291895.1 junction plakoglobin isoform X2

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487
XM_047435934.1 → XP_047291890.1 junction plakoglobin isoform X1
XM_006721874.4 → XP_006721937.1 junction plakoglobin isoform X2

See identical proteins and their annotated locations for XP_006721937.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
XM_047435935.1 → XP_047291891.1 junction plakoglobin isoform X1
XM_006721875.2 → XP_006721938.1 junction plakoglobin isoform X2

See identical proteins and their annotated locations for XP_006721938.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
XM_047435942.1 → XP_047291898.1 junction plakoglobin isoform X2

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487
XM_011524758.2 → XP_011523060.1 junction plakoglobin isoform X2

See identical proteins and their annotated locations for XP_011523060.1

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
XM_047435937.1 → XP_047291893.1 junction plakoglobin isoform X1
XM_047435941.1 → XP_047291897.1 junction plakoglobin isoform X2

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487
XM_017024590.2 → XP_016880079.1 junction plakoglobin isoform X2

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam00514
Location:221 → 253

Arm; Armadillo/beta-catenin-like repeat
XM_047435940.1 → XP_047291896.1 junction plakoglobin isoform X2

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487
XM_047435938.1 → XP_047291894.1 junction plakoglobin isoform X2

UniProtKB/Swiss-Prot

P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9

UniProtKB/TrEMBL

A0A0S2Z487

Related

ENSP00000377507.1, ENST00000393930.5