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    PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 [ Homo sapiens (human) ]

    Gene ID: 51422, updated on 27-Nov-2024

    Summary

    Official Symbol
    PRKAG2provided by HGNC
    Official Full Name
    protein kinase AMP-activated non-catalytic subunit gamma 2provided by HGNC
    Primary source
    HGNC:HGNC:9386
    See related
    Ensembl:ENSG00000106617 MIM:602743; AllianceGenome:HGNC:9386
    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
    AAKG; CMH6; WPWS; AAKG2; H91620p
    Summary
    AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in heart (RPKM 15.2), prostate (RPKM 4.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRKAG2 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151556127..151877115, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152728656..153049942, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (151253213..151574200, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:151161805-151162306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26865 Neighboring gene NANOG hESC enhancer GRCh37_chr7:151187724-151188264 Neighboring gene RNA, 7SL, cytoplasmic 76, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26866 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:151216232-151216661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18821 Neighboring gene Ras homolog, mTORC1 binding Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26867 Neighboring gene MPRA-validated peak6846 silencer Neighboring gene eukaryotic translation termination factor 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 3106 Neighboring gene MPRA-validated peak6847 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151289181-151289681 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151300425-151300977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151377353-151378020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151379739-151380324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151380325-151380908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151380909-151381493 Neighboring gene VISTA enhancer hs2193 Neighboring gene VISTA enhancer hs2194 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:151401658-151401849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151417955-151418476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151421977-151422477 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151423711-151424574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26869 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:151432471-151433128 Neighboring gene VISTA enhancer hs2199 Neighboring gene VISTA enhancer hs2200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151481003-151481892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151481893-151482782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151487603-151488104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151491193-151492090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151493035-151493617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151493618-151494199 Neighboring gene PRKAG2 antisense RNA 2 Neighboring gene MPRA-validated peak6848 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151535109-151535690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151551046-151551566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151551567-151552087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151584831-151585642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151585643-151586454 Neighboring gene PRKAG2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151587423-151587923 Neighboring gene MPRA-validated peak6849 silencer Neighboring gene RNA, U6 small nuclear 604, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26875 Neighboring gene uncharacterized LOC105375570 Neighboring gene MPRA-validated peak6850 silencer

    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

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in PRKAG2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Hypertrophic cardiomyopathy 6 not available
    Lethal congenital glycogen storage disease of heart
    MedGen: C1849813 OMIM: 261740 GeneReviews: Not available
    not available
    Wolff-Parkinson-White pattern
    MedGen: C0043202 OMIM: 194200 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-05)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-05)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Knockdown of SIRT1 by its inhibitor or siRNA results in Tat-mediated reduction of phosphorylation of AMP-activated protein kinase (AMPK) and downstream acetyl-CoA carboxylase (ACC) PubMed
    tat HIV-1 Tat induces IL-6 and TNF-alpha expression through the activation of cAMP-dependent protein kinase pathways PubMed
    Vpr vpr HIV-1 Vpr directly interacts with PKA and is phosphorylated at position Ser79 by PKA. PKA activity is necessary for virion-delivered Vpr cell cycle arrest PubMed
    matrix gag HIV-1 Matrix impairs proliferation of normal lymphocytes in vitro by inducing the activity of the inhibitory protein kinase A (PKA) PubMed
    gag Protein kinase A (PKA) has been shown to phosphorylate HIV-1 Matrix in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    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 ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables AMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cAMP-dependent protein kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cAMP-dependent protein kinase regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphorylase kinase regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to glucose starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to nutrient levels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycogen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of D-glucose import TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of carbon utilization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of fatty acid oxidation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of glycolytic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sterol biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of nucleotide-activated protein kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of nucleotide-activated protein kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nucleotide-activated protein kinase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    5'-AMP-activated protein kinase subunit gamma-2
    Names
    AMPK subunit gamma-2
    epididymis secretory sperm binding protein
    protein kinase, AMP-activated, gamma 2 non-catalytic subunit

    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_007486.2 RefSeqGene

      Range
      5117..326105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_430

    mRNA and Protein(s)

    1. NM_001040633.2NP_001035723.1  5'-AMP-activated protein kinase subunit gamma-2 isoform c

      See identical proteins and their annotated locations for NP_001035723.1

      Status: REVIEWED

      Source sequence(s)
      BC020540, BC068598, DA084454, DA187928, DA697901
      Consensus CDS
      CCDS43683.1
      UniProtKB/TrEMBL
      A0A384MDZ2
      Related
      ENSP00000376549.2, ENST00000392801.6
      Conserved Domains (3) summary
      PHA03307
      Location:2177
      PHA03307; transcriptional regulator ICP4; Provisional
      cd04618
      Location:225362
      CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1
      cd04641
      Location:388511
      CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
    2. NM_001304527.2NP_001291456.1  5'-AMP-activated protein kinase subunit gamma-2 isoform d

      See identical proteins and their annotated locations for NP_001291456.1

      Status: REVIEWED

      Source sequence(s)
      AK301123, BC020540
      Consensus CDS
      CCDS94236.1
      UniProtKB/TrEMBL
      B7Z6X8, E9PGP6
      Related
      ENSP00000419577.2, ENST00000492843.6
      Conserved Domains (2) summary
      cd04618
      Location:144281
      CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1
      cd04641
      Location:307430
      CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
    3. NM_001304531.2NP_001291460.1  5'-AMP-activated protein kinase subunit gamma-2 isoform b

      See identical proteins and their annotated locations for NP_001291460.1

      Status: REVIEWED

      Source sequence(s)
      AC006358, AW664063, BC020540, DA151645
      Consensus CDS
      CCDS47752.1
      UniProtKB/Swiss-Prot
      Q9UGJ0
      Related
      ENSP00000419493.2, ENST00000476632.2
      Conserved Domains (2) summary
      cd04618
      Location:28165
      CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1
      cd04641
      Location:191314
      CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
    4. NM_001363698.2NP_001350627.1  5'-AMP-activated protein kinase subunit gamma-2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
      UniProtKB/TrEMBL
      B7Z6X8
      Conserved Domains (2) summary
      cd04618
      Location:145282
      CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1
      cd04641
      Location:308431
      CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
    5. NM_001407021.1NP_001393950.1  5'-AMP-activated protein kinase subunit gamma-2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
    6. NM_001407022.1NP_001393951.1  5'-AMP-activated protein kinase subunit gamma-2 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
    7. NM_001407023.1NP_001393952.1  5'-AMP-activated protein kinase subunit gamma-2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
      UniProtKB/TrEMBL
      A0A494C155
      Related
      ENSP00000498886.2, ENST00000652321.2
    8. NM_001407024.1NP_001393953.1  5'-AMP-activated protein kinase subunit gamma-2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
      UniProtKB/TrEMBL
      A0A384MDZ2
      Related
      ENSP00000498796.1, ENST00000651764.1
    9. NM_001407026.1NP_001393955.1  5'-AMP-activated protein kinase subunit gamma-2 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
      UniProtKB/TrEMBL
      A0A494C1K7
      Related
      ENSP00000499111.1, ENST00000652047.1
    10. NM_001407027.1NP_001393956.1  5'-AMP-activated protein kinase subunit gamma-2 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
      UniProtKB/TrEMBL
      A0A494C1K7
    11. NM_001407028.1NP_001393957.1  5'-AMP-activated protein kinase subunit gamma-2 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    12. NM_001407029.1NP_001393958.1  5'-AMP-activated protein kinase subunit gamma-2 isoform k

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    13. NM_001407030.1NP_001393959.1  5'-AMP-activated protein kinase subunit gamma-2 isoform l

      Status: REVIEWED

      Source sequence(s)
      AC006966, AC074257, AC093583
    14. NM_001407031.1NP_001393960.1  5'-AMP-activated protein kinase subunit gamma-2 isoform m

      Status: REVIEWED

      Source sequence(s)
      AC006966, AC074257, AC093583
    15. NM_001407032.1NP_001393961.1  5'-AMP-activated protein kinase subunit gamma-2 isoform n

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257
    16. NM_001407033.1NP_001393962.1  5'-AMP-activated protein kinase subunit gamma-2 isoform o

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966, AC074257, AC093583
    17. NM_001407034.1NP_001393963.1  5'-AMP-activated protein kinase subunit gamma-2 isoform p

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    18. NM_001407035.1NP_001393964.1  5'-AMP-activated protein kinase subunit gamma-2 isoform p

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    19. NM_001407036.1NP_001393965.1  5'-AMP-activated protein kinase subunit gamma-2 isoform q

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    20. NM_001407037.1NP_001393966.1  5'-AMP-activated protein kinase subunit gamma-2 isoform r

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    21. NM_001407038.1NP_001393967.1  5'-AMP-activated protein kinase subunit gamma-2 isoform s

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    22. NM_001407039.1NP_001393968.1  5'-AMP-activated protein kinase subunit gamma-2 isoform t

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    23. NM_001407040.1NP_001393969.1  5'-AMP-activated protein kinase subunit gamma-2 isoform t

      Status: REVIEWED

      Source sequence(s)
      AC006358, AC006966
    24. NM_016203.4NP_057287.2  5'-AMP-activated protein kinase subunit gamma-2 isoform a

      See identical proteins and their annotated locations for NP_057287.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a, also referred to as PRKAG2-a).
      Source sequence(s)
      AJ249976, BC020540, DA123009
      Consensus CDS
      CCDS5928.1
      UniProtKB/Swiss-Prot
      Q53Y07, Q6NUI0, Q75MP4, Q9NUZ9, Q9UDN8, Q9UGJ0, Q9ULX8
      UniProtKB/TrEMBL
      A0A090N8Q6
      Related
      ENSP00000287878.3, ENST00000287878.9
      Conserved Domains (3) summary
      PHA03307
      Location:46221
      PHA03307; transcriptional regulator ICP4; Provisional
      cd04618
      Location:269406
      CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1
      cd04641
      Location:432555
      CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
    25. NM_024429.2NP_077747.1  5'-AMP-activated protein kinase subunit gamma-2 isoform b

      See identical proteins and their annotated locations for NP_077747.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) contains a distinct 5' UTR and lacks a large in-frame portion of the 5' coding region, compared to variant a. The resulting isoform (b, also referred to as PRKAG2-b) has a much shorter N-terminus when compared to isoform a. Variants b and e encode the same isoform (b).
      Source sequence(s)
      AK001887, BC020540
      Consensus CDS
      CCDS47752.1
      UniProtKB/Swiss-Prot
      Q9UGJ0
      Related
      ENSP00000387386.2, ENST00000418337.6
      Conserved Domains (2) summary
      cd04618
      Location:28165
      CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1
      cd04641
      Location:191314
      CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      151556127..151877115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420448.1XP_047276404.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X5

    2. XM_011516284.2XP_011514586.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X4

      Conserved Domains (3) summary
      COG0517
      Location:354474
      CBS; CBS domain [Signal transduction mechanisms]
      cd04618
      Location:273402
      CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
      cd04641
      Location:429548
      CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    3. XM_011516282.2XP_011514584.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X2

      Conserved Domains (3) summary
      COG0517
      Location:354474
      CBS; CBS domain [Signal transduction mechanisms]
      cd04618
      Location:273402
      CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
      cd04641
      Location:429548
      CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    4. XM_011516283.2XP_011514585.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X3

      Conserved Domains (3) summary
      COG0517
      Location:355475
      CBS; CBS domain [Signal transduction mechanisms]
      cd04618
      Location:274403
      CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
      cd04641
      Location:430549
      CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    5. XM_006716021.3XP_006716084.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X1

      Conserved Domains (3) summary
      COG0517
      Location:355475
      CBS; CBS domain [Signal transduction mechanisms]
      cd04618
      Location:274403
      CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
      cd04641
      Location:430549
      CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    6. XM_047420450.1XP_047276406.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X8

      UniProtKB/TrEMBL
      A0A494C068
      Related
      ENSP00000498384.1, ENST00000650858.1
    7. XM_017012277.3XP_016867766.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X7

      Related
      ENST00000650851.1
    8. XM_011516286.3XP_011514588.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X6

      Conserved Domains (3) summary
      COG0517
      Location:110230
      CBS; CBS domain [Signal transduction mechanisms]
      cd04618
      Location:29158
      CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
      cd04641
      Location:185304
      CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      152728656..153049942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358344.1XP_054214319.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X5

    2. XM_054358341.1XP_054214316.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X2

    3. XM_054358340.1XP_054214315.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X1

    4. XM_054358345.1XP_054214320.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X6

    5. XM_054358343.1XP_054214318.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X4

    6. XM_054358342.1XP_054214317.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X3

    7. XM_054358347.1XP_054214322.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X8

      UniProtKB/TrEMBL
      A0A494C068
    8. XM_054358346.1XP_054214321.1  5'-AMP-activated protein kinase subunit gamma-2 isoform X7