Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23630
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily E regulatory subunit 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNE5
Synonyms (NCBI Gene) Gene synonyms aliases	KCNE1L
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion sel

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	12324418
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	20533308, 32296183
GO:0005886	Component	Plasma membrane	IDA	20533308
GO:0008016	Process	Regulation of heart contraction	IMP	18313602
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	12324418, 21493962
GO:0015459	Function	Potassium channel regulator activity	IBA	21873635
GO:0015459	Function	Potassium channel regulator activity	IDA	12324418, 18313602, 21493962
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0044325	Function	Ion channel binding	IPI	12324418
GO:0060048	Process	Cardiac muscle contraction	IMP	18313602
GO:0060306	Process	Regulation of membrane repolarization	IDA	21493962
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA	21873635
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	21493962
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	18313602
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA	21873635
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	21493962
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	21493962
GO:0086011	Process	Membrane repolarization during action potential	IBA	21873635
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	18313602
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA	21873635
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	18313602, 21493962
GO:0097623	Process	Potassium ion export across plasma membrane	IBA	21873635
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	12324418, 21493962
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IDA	12324418, 18313602
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	12324418
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IBA	21873635
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA	21873635
GO:1903765	Process	Negative regulation of potassium ion export across plasma membrane	IDA	18313602
GO:2001257	Process	Regulation of cation channel activity	IDA	21493962

MIM	HGNC	e!Ensembl
300328	6241	ENSG00000176076

Protein

UniProt ID

Q9UJ90

Protein name

Potassium voltage-gated channel subfamily E regulatory beta subunit 5 (AMME syndrome candidate gene 2 protein) (Potassium channel subunit beta MiRP4) (Potassium voltage-gated channel subfamily E member 1-like protein)

Protein function

Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an in

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta. {ECO:0000269|PubMed:10493825}.

Sequence

MNCSESQRLRTLLSRLLLELHHRGNASGLGAGPRPSMGMGVVPDPFVGREVTSAKGDDAY
LYILLIMIFYACLAGGLILAYTRSRKLVEAKDEPSQACAEHEWAPGGALTADAEAAAGSQ
AEGRRQLASEGLPALAQGAERV

Sequence length

142

Interactions

View interactions

	Reactome
			Phase 3 - rapid repolarisation Phase 2 - plateau phase

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557 View all (6 more)	30289750, 29350269
Atrioventricular block	First degree atrioventricular block	rs766840243, rs763809932
Brugada syndrome	Brugada Syndrome (disorder), Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776 View all (97 more)	21493962, 10493825, 29350269, 30289750, 27484720
Elliptocytosis	Elliptocytosis, Hereditary	rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564 View all (1 more)
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Renal insufficiency	Renal Insufficiency	rs1596536873
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Arrhythmogenic Right Ventricular Dysplasia	Associate	30129429
Atrial Fibrillation	Associate	18313602, 21924735, 21967835
Brugada Syndrome	Associate	21967835
Death Sudden Cardiac	Associate	30129429
Heart Diseases	Associate	21967835
Long QT Syndrome	Associate	21967835
Tachycardia Ventricular	Associate	30129429

KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5)