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

Homo sapiens

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

Gene ID: 3781 | Gene type: protein coding

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

Ion_trans_2

CaMBD

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07170	KCNN2 Human Pre-designed siRNA Set A		/	Unkown

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
Others	KCNN2	NCBI

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