1. Gene
  2. PLN - phospholamban Gene

PLN - phospholamban Gene

Homo sapiens

Also known as PLB; CMD1P; CMH18

Gene ID: 5350 | Gene type: protein coding

About PLN

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:118,548,296-118,561,716 (from NCBI)

This gene has 1 transcript (splice variant), 187 orthologues and is associated with 5 phenotypes. Biased expression in heart (RPKM 615.2), gall bladder (RPKM 62.5) and 1 other tissue.

Summary

The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]

PLN Products(1)

mRNA Protein Name
NM_002667.5 NP_002658.1 cardiac phospholamban

PLN Protein Structure

Phospholamban

Phospholamban: Phospholamban (1 - 52)

  • 0
  • 52 a.a.
Protein Preferred Names Protein Names

cardiac phospholamban

Recombinant PLN Proteins

Cat. No. Product Name Accession Purity
HY-P72275 Cardiac phospholamban/PLN, Human (P.pastoris, GST) P26678 (M1-L52) ≥95%

Related Diseases

Diseases Alias
Cardiomyopathy, Dilated, 1p

Dilated Cardiomyopathy 1p

CMD1P

Cardiomyopathy, Dilated 1p

Cardiomyopathy, Dilated, Type 1p

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18

CMH18

Cardiomyopathy, Hypertrophic, 18

Cardiomyopathy Familial Hypertrophic 18

Cardiomyopathy, Familial Hypertrophic 18

Cardiomyopathy, Hypertrophic, Familial, Type 18

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9

ARVD9

Arrhythmogenic Right Ventricular Cardiomyopathy 9

Arvc9

Familial Arrhythmogenic Right Ventricular Dysplasia 9

Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Brody Disease

Brody Myopathy

BROD

Sarcoplasmic Reticulum -Ca2+Atpase Deficiency

Myopathy, Brody

Schwartz-Jampel Syndrome, Type 1

Schwartz-Jampel Syndrome

SJS1

Schwartz-Jampel-Aberfeld Syndrome

Sjs

Chondrodystrophic Myotonia

Schwartz-Jampel Syndrome Type 1

Sja Syndrome

Aberfeld Syndrome

Burton Skeletal Dysplasia

Burton Syndrome

Catel-Hempel Syndrome

Myotonic Chondrodystrophy

Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies

Osteochondromuscular Dystrophy

Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities

Schwartz-Jampel Syndrome 1

Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type

Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria

Schwartz Jampel Syndrome

Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities

Schwartz Jampel Aberfeld Syndrome

Congenital Blepharophimosis, Myopia, Myopathy Syndrome

Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Periarthritis
Cantu Syndrome

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Craniofaciocardioskeletal Syndrome

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum

HTOCD

Osteochondrodysplasia, Hypertrichotic

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLN RGD RGD:619894
Felis catus PLN VGNC VGNC:68906
Mus musculus PLN MGD MGI:97622
Canis familiaris PLN VGNC VGNC:44700
Bos taurus PLN VGNC VGNC:33038
Others PLN NCBI