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  2. KCNK3

KCNK3

Analyte Export to PDF
Name:
potassium two pore domain channel subfamily K member 3
Symbol:
KCNK3
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
K2p3.1
TASK
TASK-1
TASK1
TWIK-related acid-sensitive K+ 1
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Primary Arterial Hypertension (19 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVRL1 100.00 0 NM_000020.2
    AQP1 100.00 0 NM_198098.3
    ATP13A3 100.00 0 NM_024524.3
    BMPR1B 100.00 0 NM_001203.2
    BMPR2 100.00 0 NM_001204.6
    CAV1 100.00 0 NM_001753.4
    EIF2AK4 100.00 0 NM_001013703.3
    ENG 100.00 0 NM_000118.3
    EPHB4 100.00 0 NM_004444.4
    GDF2 100.00 0 NM_016204.3
    KCNA5 100.00 0 NM_002234.3
    KCNK3 100.00 0 NM_002246.2
    KDR 100.00 0 NM_002253.3
    RASA1 100.00 0 NM_002890.3
    SMAD4 100.00 0 NM_005359.5
    SMAD9 100.00 0 NM_001127217.2
    SOX17 100.00 0 NM_022454.3
    TBX4 100.00 0 NM_018488.3
    SMAD1 100.00 0 NM_005900.3
  • Primary cardiac arrhythmias (113 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADRB1 78.34 0 No comment
    ADRB2 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AGXT2 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALG10B 100.00 0 No comment
    ANK2 100.00 0 No comment
    BAG3 100.00 0 No comment
    CACNA1C 100.00 0 No comment
    CACNA2D1 100.00 0 No comment
    CACNA2D4 99.99 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CASQ2 100.00 0 No comment
    CAV3 100.00 0 No comment
    CIT 100.00 0 No comment
    CKMT2 100.00 0 No comment
    CRP 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTNNA3 100.00 0 No comment
    DEPDC5 99.62 0 No comment
    DPP6 96.95 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    EMD 99.84 0 No comment
    FGF12 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GJA5 100.00 0 No comment
    GPD1L 100.00 0 No comment
    HCN4 92.35 0 No comment
    HSPA1L 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KCNA5 100.00 0 No comment
    KCNAB2 100.00 0 No comment
    KCNB2 100.00 0 No comment
    KCND3 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNE2 100.00 0 No comment
    KCNE3 100.00 0 No comment
    KCNE4 100.00 0 No comment
    KCNE5 94.02 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ16 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNJ5 100.00 0 No comment
    KCNJ8 100.00 0 No comment
    KCNK17 100.00 0 No comment
    KCNK3 95.81 0 No comment
    KCNQ1 91.07 0 No comment
    KCNT1 99.74 0 No comment
    KIF21B 100.00 0 No comment
    LMNA 99.93 0 No comment
    MYBPC3 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYL4 100.00 0 No comment
    NAA10 96.03 0 No comment
    NKX2-5 100.00 0 No comment
    NKX2-6 100.00 0 No comment
    NOS1AP 100.00 0 No comment
    NPPA 100.00 0 No comment
    NUP155 100.00 0 No comment
    NUP37 100.00 0 No comment
    PI4KA 99.44 0 No comment
    PIK3CG 100.00 0 No comment
    PITX2 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLN 100.00 0 No comment
    PRRX1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    REM2 100.00 0 No comment
    RIMS1 99.79 0 No comment
    RNF207 99.91 0 No comment
    RYR1 98.38 0 No comment
    RYR2 100.00 0 No comment
    SCN10A 100.00 0 No comment
    SCN1B 94.12 0 No comment
    SCN2B 100.00 0 No comment
    SCN3B 100.00 0 No comment
    SCN4A 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCNN1A 100.00 0 No comment
    SDHAF3 100.00 0 No comment
    SEMA3A 100.00 0 No comment
    SHOX2 99.15 0 No comment
    SIRT6 100.00 0 No comment
    SLC2A5 99.60 0 No comment
    SLC4A3 100.00 0 No comment
    SLMAP 100.00 0 No comment
    SNTA1 84.25 0 No comment
    TBX5 100.00 0 No comment
    TGFB2 100.00 0 No comment
    DDR2 97.72 0 No comment
    TNNI3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRDN 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TTN 100.00 0 No comment
    UBR4 99.99 0 No comment
    UBR5 100.00 0 No comment
    WDR26 100.00 0 No comment
    XIRP1 100.00 0 No comment
    ZC3HC1 100.00 0 No comment
  • Pulmonary Arterial Hypertension (24 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BMPR2 100.00 0
    ACVRL1 100.00 0
    ENG 100.00 0
    CAV1 100.00 0
    SMAD9 100.00 0
    KCNK3 94.00 0
    BMPR1B 100.00 0
    SMAD4 98.00 0
    EIF2AK4 100.00 0
    TBX4 95.00 0
    GDF2 100.00 0
  • Respiratory Disorders panel (137 genes) - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 99.96 1
    ABCC8 99.98 1
    ACVRL1 99.88 1
    AP3B1 99.89 1
    AQP1 99.99 1
    ARHGEF1 99.97 1
    ASAH1 99.90 1
    ASCL1 99.82 1
    ATP13A3 99.84 1
    ATP6AP1 100.00 1
    BDNF 100.00 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMP10 99.96 1
    BMPR1B 99.61 1
    BMPR2 99.95 1
    CARD11 99.97 1
    CAV1 99.97 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CD19 99.98 1
    CD81 99.97 1
    CIITA 99.99 1
    CLEC1A 99.97 1
    CLEC7A 99.98 1
    COPA 99.61 1
    CR2 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    DKC1 99.59 1
    DNAAF1 99.99 1
    DNAAF2 99.91 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAH9 99.79 1
    DOCK8 99.86 1
    DTNBP1 99.89 1
    EFEMP2 99.94 1
    EIF2AK4 99.97 1
    ELMOD2 99.80 1
    ELN 99.86 1
    ENG 100.00 1
    ERBIN 99.69 1
    FAM111B 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBLN5 100.00 1
    FLNA 99.99 1
    FNIP1 99.87 1
    FOXF1 99.99 1
    FOXP3 99.93 1
    GARS1 99.93 1
    GATA2 99.99 1
    GBA1 96.92 1
    GDF2 100.00 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    IKZF1 99.92 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IRF2BP2 100.00 1
    ITCH 95.57 1
    ITGA3 99.86 1
    KCNA5 100.00 1
    KCNK3 100.00 1
    KDR 99.86 1
    LRBA 99.76 1
    LTBP4 99.99 1
    MARS1 99.97 1
    MOGS 100.00 1
    MS4A1 99.60 1
    MUC5B 99.94 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NKX2-1 100.00 1
    NME8 99.83 1
    NOD2 99.98 1
    NOTCH3 99.99 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    PARN 99.75 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    POU2AF1 99.43 1
    PTEN 99.89 1
    RAC2 99.99 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RGPD4 71.96 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RTEL1 100.00 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SEC61A1 99.99 1
    SERPINA1 100.00 1
    SFTPA1 99.99 1
    SFTPA2 99.81 1
    SFTPB 99.99 1
    SFTPC 99.99 1
    SFTPD 99.62 1
    SH3KBP1 99.95 1
    SLC34A2 99.99 1
    SLC7A7 99.99 1
    SMAD4 99.97 1
    SMAD9 99.99 1
    SMPD1 100.00 1
    SOX17 100.00 1
    SPINK5 99.91 1
    STAT3 99.97 1
    STAT5B 99.50 1
    STING1 99.87 1
    TBX4 99.96 1
    TERC 98.59 1
    TERT 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TINF2 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TRNT1 99.97 1
    TSC1 99.99 1
    TSC2 99.98 1
    ZNF341 100.00 1