1. Gene
  2. KCNMB3 - potassium calcium-activated channel subfamily M regulatory beta subunit 3 Gene

KCNMB3 - potassium calcium-activated channel subfamily M regulatory beta subunit 3 Gene

Homo sapiens

Also known as HBETA3; KCNMB2; KCNMBL; BKBETA3; SLOBETA3; SLO-BETA-3; K(VCA)BETA-3

Gene ID: 27094 | Gene type: protein coding

About KCNMB3

Cytogenetic location: 3q26.32 Genomic coordinates (GRCh38): 3:179,239,703-179,267,050 (from NCBI)

This gene has 7 transcripts (splice variants), 162 orthologues and 3 paralogues. Ubiquitous expression in fat (RPKM 6.7), gall bladder (RPKM 6.6) and 25 other tissues.

Summary

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]

KCNMB3 Products(5)

mRNA Protein Name
NM_001163677.2 NP_001157149.1 calcium-activated potassium channel subunit beta-3 isoform e
NM_014407.3 NP_055222.3 calcium-activated potassium channel subunit beta-3 isoform d
NM_171828.3 NP_741979.1 calcium-activated potassium channel subunit beta-3 isoform a
NM_171829.3 NP_741980.1 calcium-activated potassium channel subunit beta-3 isoform b
NM_171830.2 NP_741981.1 calcium-activated potassium channel subunit beta-3 isoform c

KCNMB3 Protein Structure

CaKB

CaKB: Calcium-activated potassium channel, beta subunit (47 - 244)

  • 0
  • 100
  • 200
  • 279 a.a.
Protein Preferred Names Protein Names

calcium-activated potassium channel subunit beta-3

BK channel beta subunit 3

Related Diseases

Diseases Alias
Epilepsy, Familial Adult Myoclonic, 5

FAME5

Fcmte5

Cortical Myoclonic Tremor With Epilepsy, Familial, 5

Familial Adult Myoclonic Epilepsy 5

Epilepsy, Myoclonic, Familial Adult, 5

Familial Cortical Myoclonic Tremor And Epilepsy 5

Familial Cortical Myoclonic Tremor With Epilepsy 5

Epilepsy, Myoclonic, Familial Adult, Type 5

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

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
Mus musculus KCNMB3 MGD MGI:3612244
Felis catus KCNMB3 VGNC VGNC:102764
Macaca mulatta KCNMB3 VGNC VGNC:74000
Canis familiaris KCNMB3 VGNC VGNC:42283
Rattus norvegicus KCNMB3 RGD RGD:1311852
Bos taurus KCNMB3 VGNC VGNC:30481