KCNN2 - potassium calcium-activated channel subfamily N member 2 Gene

Also Known as SK2; hSK2; DYT34; SKCA2; KCa2.2; NEDMAB; SKCa 2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3781

About KCNN2

Cytogenetic location: 5q22.3 Genomic coordinates (GRCh38): 5:114,055,978-114,496,496 (from NCBI)

This gene has 11 transcripts (splice variants), 141 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 4.9), liver (RPKM 3.5) and 8 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. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of Potassium Channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three Other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

KCNN2 Products (3)

mRNA Protein Name
NM_001372233.1 NP_001359162.1 small conductance calcium-activated potassium channel protein 2 isoform c
NM_021614.4 NP_067627.3 small conductance calcium-activated potassium channel protein 2 isoform a
NM_170775.3 NP_740721.1 small conductance calcium-activated potassium channel protein 2 isoform b

KCNN2 Protein Structure

SK_channel

SK_channel: Calcium-activated SK potassium channel (120 - 238)

Ion_trans_2

Ion_trans_2: Ion channel (319 - 397)

CaMBD

CaMBD: Calmodulin binding domain (412 - 488)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 579 a.a.
Protein Preferred Names Protein Names

small conductance calcium-activated potassium channel protein 2

  • apamin-sensitive small-conductance Ca2+-activated potassium channel

KCNN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KCNN2 Q9H2S1 ACTN2 Homo sapiens P35609
Y2H
19815520
Intra
KCNN2 Q9H2S1 ACTN2 Homo sapiens P35609 19815520
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
  • NEDMAB

Dystonia 34, Myoclonic
  • DYT34

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Deafness, Autosomal Recessive 100
  • DFNB100

  • Autosomal Recessive Nonsyndromic Deafness 100

  • Autosomal Recessive Deafness 100

  • Deafness, Autosomal Recessive, 100

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

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 KCNN2 RGD RGD:2963
Felis catus KCNN2 VGNC VGNC:67927
Bos taurus KCNN2 VGNC VGNC:30484
Canis familiaris KCNN2 VGNC VGNC:42285
Mus musculus KCNN2 MGD MGI:2153182
Macaca mulatta KCNN2 VGNC VGNC:74003