KCNIP2 - potassium voltage-gated channel interacting protein 2 Gene

Also Known as KCHIP2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 30819

About KCNIP2

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:101,825,974-101,843,800 (from NCBI)

This gene has 14 transcripts (splice variants), 268 orthologues and 14 paralogues. Biased expression in fat (RPKM 117.8), heart (RPKM 37.5) and 1 other tissue.

Summary

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each Other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]

KCNIP2 Products (7)

mRNA Protein Name
NM_014591.5 NP_055406.2 Kv channel-interacting protein 2 isoform 1
NM_173191.3 NP_775283.1 Kv channel-interacting protein 2 isoform 2
NM_173192.3 NP_775284.1 Kv channel-interacting protein 2 isoform 3
NM_173193.3 NP_775285.1 Kv channel-interacting protein 2 isoform 4
NM_173194.3 NP_775286.1 Kv channel-interacting protein 2 isoform 5
NM_173195.3 NP_775287.1 Kv channel-interacting protein 2 isoform 6
NM_173197.3 NP_775289.1 Kv channel-interacting protein 2 isoform 7
Molecular Function GO Annotation Evidence 参考文献 由来
contributes to A-type (transient outward) potassium channel activity IDA
IDA: Inferred from direct assay
21349352 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15358149 GOA
enables potassium channel regulator activity IDA
IDA: Inferred from direct assay
21493962 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10551270 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
21493962 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in action potential IDA
IDA: Inferred from direct assay
14980201 GOA
involved in clustering of voltage-gated potassium channels IDA
IDA: Inferred from direct assay
11287421 GOA
involved in membrane repolarization IDA
IDA: Inferred from direct assay
14980201 GOA
involved in muscle contraction IDA
IDA: Inferred from direct assay
11287421 GOA
involved in positive regulation of potassium ion export across plasma membrane IDA
IDA: Inferred from direct assay
21349352 GOA
involved in regulation of membrane repolarization IDA
IDA: Inferred from direct assay
21493962 GOA
involved in regulation of potassium ion export across plasma membrane IDA
IDA: Inferred from direct assay
21493962 GOA
involved in regulation of potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
21493962 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of Kv4.2-KChIP2 channel complex IPI
IPI: Inferred from physical interaction
14980201 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
11287421 GOA
part of voltage-gated potassium channel complex IDA
IDA: Inferred from direct assay
21493962 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

KCNIP2 Protein Structure

EF-hand_8

EF-hand_8: EF-hand domain pair (120 - 169)

EF-hand_7

EF-hand_7: EF-hand domain pair (181 - 251)

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

Kv channel-interacting protein 2

  • A-type potassium channel modulatory protein 2

KCNIP2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
KCNIP2 Q9NS61 KCND2 Homo sapiens Q9NZV8
EM
14980201
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Spinocerebellar Ataxia Type 19/22
  • Sca19/22

  • Spinocerebellar Ataxia 19 And 22

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Cardiomyopathy, Dilated, 1e
  • Left Ventricular Noncompaction 9

  • Left Ventricular Noncompaction 5

  • Dilated Cardiomyopathy 1e

  • Dilated Cardiomyopathy 1s

  • CMD1E

  • Cdcd2

  • Cardiomyopathy, Dilated, 1y

  • CMD1Y

  • Cardiomyopathy, Dilated, 1s

  • CMD1S

  • Dilated Cardiomyopathy 1y

  • Dilated Cardiomyopathy With Conduction Defect 2

  • Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Defect 2

  • Cardiomyopathy Dilated With Conduction Defect Type 2

  • Cardiomyopathy, Dilated 1e

  • Cardiomyopathy, Dilated 1s

  • Cardiomyopathy, Dilated 1y

  • Left Ventricular Non-Compaction 5

  • LVNC5

  • Left Ventricular Non-Compaction 9

  • LVNC9

  • Cardiomyopathy, Dilated, Type 1e

  • Cardiomyopathy, Dilated, Type 1s

  • Cardiomyopathy, Dilated, Type 1y

Spinocerebellar Ataxia 13
  • Spinocerebellar Ataxia Type 13

  • SCA13

  • Autosomal Dominant Cerebellar Ataxia With Intellectual Disability

  • Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability

  • Spinocerebellar Ataxia-13

  • Ataxia, Spinocerebellar, Type 13

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Long Qt Syndrome 2
  • LQT2

  • Long Qt Syndrome, Acquired, Reduced Susceptibility To

  • Long Qt Syndrome 1/2

  • Long Qt Syndrome 2/3

  • Long Qt Syndrome 2/5

  • Long Qt Syndrome 2, Acquired, Susceptibility To

  • Long Qt Syndrome, Acquired, Reduced

  • Long Qt Syndrome Type 2

  • Long Qt Syndrome 2/9

  • Lqt1/2

  • Lqt2/3

  • Lqt2/5

  • Lqt2/9

  • Susceptibility To Acquired Long Qt Syndrome 2

  • Long Qt Syndrome-2

  • Qt Syndrome, Long, Type 2

  • Long Qt Syndrome 1-2

  • Long Qt Syndrome 2-3

  • Long Qt Syndrome 2-5

  • Long Qt Syndrome 9

Heart Conduction Disease
  • Conduction Disorder Of The Heart

  • Heart Rhythm Disease

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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

生物種 Symbol 由来 ID
Canis familiaris KCNIP2 VGNC VGNC:42255
Bos taurus KCNIP2 VGNC VGNC:30451
Macaca mulatta KCNIP2 VGNC VGNC:73833
Rattus norvegicus KCNIP2 RGD RGD:70887
Felis catus KCNIP2 VGNC VGNC:63041
Mus musculus KCNIP2 MGD MGI:2135916
Others KCNIP2 NCBI