KCNN3 - potassium calcium-activated channel subfamily N member 3 Gene

Also Known as SK3; ZLS3; hSK3; SKCA3; KCa2.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3782

About KCNN3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,697,455-154,870,281 (from NCBI)

This gene has 5 transcripts (splice variants), 135 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 8.1), endometrium (RPKM 1.9) and 16 other tissues.

Summary

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

KCNN3 Products (5)

mRNA Protein Name
NM_001204087.2 NP_001191016.1 small conductance calcium-activated potassium channel protein 3 isoform c
NM_001365837.1 NP_001352766.1 small conductance calcium-activated potassium channel protein 3 isoform d
NM_001365838.1 NP_001352767.1 small conductance calcium-activated potassium channel protein 3 isoform e
NM_002249.6 NP_002240.3 small conductance calcium-activated potassium channel protein 3 isoform a
NM_170782.3 NP_740752.1 small conductance calcium-activated potassium channel protein 3 isoform b
Molecular Function GO Annotation Evidence References Source
enables calmodulin binding IDA
IDA: Inferred from direct assay
31155282 GOA
enables inward rectifier potassium channel activity IDA
IDA: Inferred from direct assay
12382077 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables small conductance calcium-activated potassium channel activity IDA
IDA: Inferred from direct assay
12382077 GOA
Biological Process GO Annotation Evidence References Source
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
12382077 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNN3 Protein Structure

SK_channel

SK_channel: Calcium-activated SK potassium channel (269 - 387)

Ion_trans_2

Ion_trans_2: Ion channel (468 - 546)

CaMBD

CaMBD: Calmodulin binding domain (561 - 637)

  • 0
  • 200
  • 400
  • 600
  • 731 a.a.
Protein Preferred Names Protein Names

small conductance calcium-activated potassium channel protein 3

  • SKCa 3

Related Diseases

Diseases Alias
Zimmermann-Laband Syndrome 3
  • ZLS3

Zimmermann-Laband Syndrome
  • Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome

  • Laband Syndrome

  • Zimmerman Laband Syndrome

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Spinocerebellar Ataxia 2
  • Spinocerebellar Ataxia Type 2

  • SCA2

  • Amyotrophic Lateral Sclerosis 13

  • Spinocerebellar Degeneration With Slow Eye Movements

  • SDSEM

  • Spinocerebellar Atrophy Ii

  • Olivopontocerebellar Atrophy Ii

  • Opca2

  • Cerebellar Degeneration With Slow Eye Movements

  • Wadia-Swami Syndrome

  • Amyotrophic Lateral Sclerosis Type 13

  • ALS13

  • Olivopontocerebellar Atrophy Holguin Type

  • Spinocerebellar Ataxia Cuban Type

  • Olivopontocerebellar Atrophy, Holguin Type

  • Spinocerebellar Ataxia, Cuban Type

  • Amyotrophic Lateral Sclerosis, Susceptibility To, 13

  • Olivopontocerebellar Atrophy 2

  • Sca 2

  • Spinocerebellar Ataxia With Slow Eye Movements

  • Spinocerebellar Atrophy 2

  • Wadia Swami Syndrome

  • Opca Ii

  • Spinocerebellar Ataxia-2

  • Ataxia, Spinocerebellar, Type 2

Anorexia Nervosa
  • Anorexia Nervosa, Susceptibility To

  • ANON

  • Anorexia Nervosa, Susceptibility To, 1

  • An

  • Anorexia Nervosa 1

  • An - [Anorexia Nervosa]

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Myotonic Dystrophy 1
  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy

Hypertrichosis
Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Vascular Anomaly

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

Episodic Ataxia, Type 2
  • Episodic Ataxia Type 2

  • EA2

  • Apca

  • Capa

  • Cerebellopathy, Hereditary Paroxysmal

  • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

  • Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

  • Episodic Ataxia With Nystagmus

  • Ataxia, Episodic, With Nystagmus

  • Episodic Ataxia, Nystagmus-Associated

  • Ataxia, Familial Paroxysmal

  • Acetazolamide-Responsive Episodic Ataxia Syndrome

  • Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

  • Ataxia, Familial, Paroxysmal

  • Nystagmus-Associated Episodic Ataxia

  • Familial Paroxysmal Ataxia

  • Episodic Ataxia 2

  • Ea-2

  • Episodic Ataxia Nystagmus-Associated

  • Hereditary Paroxysmal Cerebellopathy

  • Ataxia, Episodic, Type 2

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 KCNN3 RGD RGD:2964
Felis catus KCNN3 VGNC VGNC:107887
Bos taurus KCNN3 VGNC VGNC:30485
Mus musculus KCNN3 MGD MGI:2153183
Macaca mulatta KCNN3 VGNC VGNC:74004
Canis familiaris KCNN3 VGNC VGNC:42286
Others KCNN3 NCBI