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    PRKG2 protein kinase cGMP-dependent 2 [ Homo sapiens (human) ]

    Gene ID: 5593, updated on 27-Nov-2024

    Summary

    Official Symbol
    PRKG2provided by HGNC
    Official Full Name
    protein kinase cGMP-dependent 2provided by HGNC
    Primary source
    HGNC:HGNC:9416
    See related
    Ensembl:ENSG00000138669 MIM:601591; AllianceGenome:HGNC:9416
    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
    AMD4; PKG2; SMDP; cGK2; cGKII; PRKGR2
    Summary
    This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]
    Expression
    Biased expression in prostate (RPKM 4.2), small intestine (RPKM 4.1) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PRKG2 in Genome Data Viewer
    Location:
    4q21.21
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (81087370..81217836, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (84417063..84547534, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (82008524..82136376, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 299 Neighboring gene uncharacterized LOC105377305 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:81416935-81417840 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:81480892-81481084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15523 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:82075133-82075646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:82074618-82075132 Neighboring gene bone morphogenetic protein 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:82085265-82086464 Neighboring gene PRKG2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:82135408-82135908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:82135909-82136409 Neighboring gene uncharacterized LOC124900726 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:82296443-82296942 Neighboring gene RNA, U5A small nuclear 2, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15524 Neighboring gene RasGEF domain family member 1B

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Acromesomelic dysplasia 4
    MedGen: C5562028 OMIM: 619636 GeneReviews: Not available
    not available
    Spondylometaphyseal dysplasia, pagnamenta type
    MedGen: C5562030 OMIM: 619638 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cGMP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cGMP-dependent protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cGMP-dependent protein kinase activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitogen-activated protein kinase binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein serine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tetrahydrobiopterin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cGMP-dependent protein kinase 2
    Names
    cGMP-dependent protein kinase II
    protein kinase, cGMP-dependent, type II
    testicular tissue protein Li 99
    NP_001269409.1
    NP_001269410.1
    NP_001269411.1
    NP_001269412.1
    NP_001269414.1
    NP_001350330.1
    NP_006250.1
    XP_016863904.2
    XP_016863905.2
    XP_016863907.1
    XP_047271919.1
    XP_054206479.1
    XP_054206480.1
    XP_054206481.1

    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.

    mRNA and Protein(s)

    1. NM_001282480.1NP_001269409.1  cGMP-dependent protein kinase 2 isoform b

      See identical proteins and their annotated locations for NP_001269409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC139722, AK297673, AK316140, BF508892, DA569289, X94612
      Consensus CDS
      CCDS75150.1
      UniProtKB/TrEMBL
      B4DLF9, B7ZA25
      Related
      ENSP00000439967.1, ENST00000545647.5
      Conserved Domains (1) summary
      cd05572
      Location:39298
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
    2. NM_001282481.1NP_001269410.1  cGMP-dependent protein kinase 2 isoform b

      See identical proteins and their annotated locations for NP_001269410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC139722, AK296979, AK297673, AK316140, BF508892, DA569289, X94612
      Consensus CDS
      CCDS75150.1
      UniProtKB/TrEMBL
      B4DLF9, B7ZA25
      Conserved Domains (1) summary
      cd05572
      Location:39298
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
    3. NM_001282482.1NP_001269411.1  cGMP-dependent protein kinase 2 isoform c

      See identical proteins and their annotated locations for NP_001269411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC139722, AK297673, AK316140, BF508892, DA569289, DC348270, X94612
      UniProtKB/TrEMBL
      B4DLF9
      Conserved Domains (1) summary
      cd05572
      Location:19269
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
    4. NM_001282483.1NP_001269412.1  cGMP-dependent protein kinase 2 isoform d

      See identical proteins and their annotated locations for NP_001269412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The resulting isoform (d) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC139722, AK297673, AK316140, BF508892, DA462272, DA569289, X94612
      UniProtKB/TrEMBL
      B4DLF9
      Conserved Domains (1) summary
      cd05572
      Location:1238
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
    5. NM_001282485.2NP_001269414.1  cGMP-dependent protein kinase 2 isoform e

      See identical proteins and their annotated locations for NP_001269414.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in an internal exon compared to variant 1. The resulting isoform (e) is shorter compared to isoform a.
      Source sequence(s)
      AC098819, AC139722, AK297673, BF508892, DA569289, DB455792, X94612
      Consensus CDS
      CCDS64005.1
      UniProtKB/Swiss-Prot
      Q13237
      Related
      ENSP00000486129.1, ENST00000628926.1
      Conserved Domains (2) summary
      cd00038
      Location:286401
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd05572
      Location:439689
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
    6. NM_001363401.2NP_001350330.1  cGMP-dependent protein kinase 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site in the 5' UTR, compared to variant 1, and encodes isoform a. Variants 1 and 7 encode the same isoform (a).
      Source sequence(s)
      AC098819, AC139722
      Consensus CDS
      CCDS3589.1
      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
      Related
      ENSP00000378945.1, ENST00000395578.3
      Conserved Domains (2) summary
      cd00038
      Location:286401
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd05572
      Location:459718
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
    7. NM_006259.3NP_006250.1  cGMP-dependent protein kinase 2 isoform a

      See identical proteins and their annotated locations for NP_006250.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 7 encode the same isoform (a).
      Source sequence(s)
      AC098819, AC139722, BF508892, DA569289, DB455792, X94612
      Consensus CDS
      CCDS3589.1
      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
      Related
      ENSP00000264399.1, ENST00000264399.6
      Conserved Domains (2) summary
      cd00038
      Location:286401
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd05572
      Location:459718
      STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      81087370..81217836 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008415.2XP_016863904.2  cGMP-dependent protein kinase 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
    2. XM_017008416.2XP_016863905.2  cGMP-dependent protein kinase 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
    3. XM_047415963.1XP_047271919.1  cGMP-dependent protein kinase 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
    4. XM_017008418.1XP_016863907.1  cGMP-dependent protein kinase 2 isoform X2

      Conserved Domains (2) summary
      COG0664
      Location:162285
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:286401
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      84417063..84547534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350504.1XP_054206479.1  cGMP-dependent protein kinase 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
    2. XM_054350505.1XP_054206480.1  cGMP-dependent protein kinase 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DMX3, E7EPE6, O00125, O60916, Q13237
      UniProtKB/TrEMBL
      A0A140VJM3
    3. XM_054350506.1XP_054206481.1  cGMP-dependent protein kinase 2 isoform X2