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    KCNIP2 potassium voltage-gated channel interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 30819, updated on 3-Apr-2024

    Summary

    Official Symbol
    KCNIP2provided by HGNC
    Official Full Name
    potassium voltage-gated channel interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:15522
    See related
    Ensembl:ENSG00000120049 MIM:604661; AllianceGenome:HGNC:15522
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KCHIP2
    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]
    Expression
    Biased expression in fat (RPKM 117.8), heart (RPKM 37.5) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10q24.32
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101825974..101843800, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (102709458..102727289, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103585731..103603557, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene FGF8 5' regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103542131-103542770 Neighboring gene nucleophosmin/nucleoplasmin 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103577734-103578309 Neighboring gene O-GlcNAcase Neighboring gene Sharpr-MPRA regulatory region 4495 Neighboring gene KCNIP2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103587343-103588542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103590597-103591113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2731 Neighboring gene Sharpr-MPRA regulatory region 3638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103596213-103596713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103603069-103603574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2734 Neighboring gene uncharacterized LOC101927445 Neighboring gene armadillo like helical domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:103662223-103662886 Neighboring gene uncharacterized LOC124902492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2735

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC17241, DKFZp566L1246

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chemical synaptic transmission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in clustering of voltage-gated potassium channels IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of calcium ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane repolarization during cardiac muscle cell action potential TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of potassium ion export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of voltage-gated potassium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in potassium ion export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of heart contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of heart contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Kv4.2-KChIP2 channel complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of potassium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated potassium channel complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    Kv channel-interacting protein 2
    Names
    A-type potassium channel modulatory protein 2
    Kv channel interacting protein 2
    cardiac voltage-gated potassium channel modulatory subunit
    potassium channel-interacting protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029836.1 RefSeqGene

      Range
      5121..22947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014591.5NP_055406.2  Kv channel-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055406.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as KChIP4.2, encodes the longest isoform (1).
      Source sequence(s)
      AF367018, AJ276317, AK094668, AL136722, BC034685
      Consensus CDS
      CCDS7521.1
      UniProtKB/TrEMBL
      B3KNV3
      Related
      ENSP00000420040.1, ENST00000461105.5
      Conserved Domains (1) summary
      COG5126
      Location:108274
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    2. NM_173191.3NP_775283.1  Kv channel-interacting protein 2 isoform 2

      See identical proteins and their annotated locations for NP_775283.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as KChIP2.4 or KChIP2L, lacks an in-frame segment in the coding region, as compared to variant 1. Isoform 2 is thus shorter than isoform 1.
      Source sequence(s)
      AF367021, AJ276317, AK094668, AL136722, BC034685
      Consensus CDS
      CCDS7522.1
      UniProtKB/Swiss-Prot
      A6NJE5, A8MQ75, Q3YAC6, Q3YAC8, Q3YAC9, Q7Z6F1, Q96K86, Q96T41, Q96T42, Q96T43, Q96T44, Q9H0N4, Q9HD10, Q9HD11, Q9NS60, Q9NS61, Q9NY10, Q9NZI1
      UniProtKB/TrEMBL
      B3KNV3
      Related
      ENSP00000349055.2, ENST00000356640.7
      Conserved Domains (1) summary
      COG5126
      Location:93259
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    3. NM_173192.3NP_775284.1  Kv channel-interacting protein 2 isoform 3

      See identical proteins and their annotated locations for NP_775284.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as KChIP2.1, lacks an in-frame segment in the coding region, as compared to variant 1. Isoform 3 is thus shorter than isoform 1.
      Source sequence(s)
      AJ276317, AK094668, AL136722, BC034685
      Consensus CDS
      CCDS41562.1
      UniProtKB/TrEMBL
      B3KNV3
      Related
      ENSP00000350733.3, ENST00000358038.7
      Conserved Domains (1) summary
      COG5126
      Location:75241
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    4. NM_173193.3NP_775285.1  Kv channel-interacting protein 2 isoform 4

      See identical proteins and their annotated locations for NP_775285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as KChIP2S, lacks two consecutive in-frame segment and has an additional in-frame segment in the coding region, as compared to variant 1. Isoform 4 is shorter, but has the same N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AF295530, AJ276317, AK094668, AL136722, BC034685
      Consensus CDS
      CCDS7523.1
      UniProtKB/TrEMBL
      Q09MK0
      Related
      ENSP00000341624.3, ENST00000353068.7
      Conserved Domains (1) summary
      COG5126
      Location:43216
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    5. NM_173194.3NP_775286.1  Kv channel-interacting protein 2 isoform 5

      See identical proteins and their annotated locations for NP_775286.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has a shorter and alternate 5' sequence including the 5' UTR and the 5' coding region, as compared to variant 1. Isoform 5 is shorter and has a distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC010789, AJ276317, AL136722, BC034685
      Consensus CDS
      CCDS7525.1
      UniProtKB/TrEMBL
      B4DW99
      Related
      ENSP00000239118.6, ENST00000348850.9
      Conserved Domains (1) summary
      COG5126
      Location:48214
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    6. NM_173195.3NP_775287.1  Kv channel-interacting protein 2 isoform 6

      See identical proteins and their annotated locations for NP_775287.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), also known as KChIP2.2, KChIP2T or KChIP2S, lacks two consecutive in-frame segments in the coding region, as compared to variant 1. It encodes a shorter isoform (6), that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AJ276317, AK094668, AL136722, BC034685
      Consensus CDS
      CCDS7524.1
      UniProtKB/TrEMBL
      Q09MK0
      Related
      ENSP00000344169.4, ENST00000343195.8
      Conserved Domains (1) summary
      COG5126
      Location:43209
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    7. NM_173197.3NP_775289.1  Kv channel-interacting protein 2 isoform 7

      See identical proteins and their annotated locations for NP_775289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), also known as KChIP2.5, lacks four coding segments: two consecutive in the 5' region, one in the middle, and one at the 3' end, but has an alternate segment at the 3' end, as compared to variant 1. The alternate segment contains the stop codon. Therefore, isoform 7 has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF367019, AK094668, BC034685
      Consensus CDS
      CCDS7526.1
      UniProtKB/TrEMBL
      A6NFF4
      Related
      ENSP00000239117.3, ENST00000239117.3
      Conserved Domains (1) summary
      cd00051
      Location:94165
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      101825974..101843800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269730.3XP_005269787.1  Kv channel-interacting protein 2 isoform X4

      UniProtKB/TrEMBL
      Q09MK0
      Conserved Domains (2) summary
      COG5126
      Location:43201
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:130201
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    2. XM_005269729.3XP_005269786.1  Kv channel-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      B3KNV3
      Conserved Domains (2) summary
      COG5126
      Location:75233
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:162233
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    3. XM_006717812.3XP_006717875.1  Kv channel-interacting protein 2 isoform X2

      UniProtKB/TrEMBL
      B3KNV3
      Conserved Domains (2) summary
      COG5126
      Location:93251
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:180251
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    4. XM_011539731.3XP_011538033.1  Kv channel-interacting protein 2 isoform X1

      UniProtKB/TrEMBL
      B4DW99
      Conserved Domains (2) summary
      COG5126
      Location:48206
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:135206
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    5. XM_017016161.2XP_016871650.1  Kv channel-interacting protein 2 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y6D7, Q09MK0
      Related
      ENSP00000495474.1, ENST00000642874.1
      Conserved Domains (1) summary
      COG5126
      Location:53219
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      102709458..102727289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365684.1XP_054221659.1  Kv channel-interacting protein 2 isoform X4

    2. XM_054365683.1XP_054221658.1  Kv channel-interacting protein 2 isoform X3

    3. XM_054365682.1XP_054221657.1  Kv channel-interacting protein 2 isoform X2

    4. XM_054365681.1XP_054221656.1  Kv channel-interacting protein 2 isoform X1

    5. XM_054365685.1XP_054221660.1  Kv channel-interacting protein 2 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y6D7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173342.2: Suppressed sequence

      Description
      NM_173342.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.