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    GNG2 G protein subunit gamma 2 [ Homo sapiens (human) ]

    Gene ID: 54331, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GNG2provided by HGNC
    Official Full Name
    G protein subunit gamma 2provided by HGNC
    Primary source
    HGNC:HGNC:4404
    See related
    Ensembl:ENSG00000186469 MIM:606981; AllianceGenome:HGNC:4404
    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
    HG3F1
    Summary
    This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in brain (RPKM 43.3), spleen (RPKM 22.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNG2 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (51826174..51969795)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (46033129..46176839)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (52292892..52436513)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927598 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:52242760-52242929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8375 Neighboring gene olfactory receptor family 7 subfamily E member 106 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 159 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52282721-52283222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52326949-52327450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8384 Neighboring gene uncharacterized LOC102723604 Neighboring gene uncharacterized LOC105370497 Neighboring gene Sharpr-MPRA regulatory region 5932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52480482-52481434 Neighboring gene RNA transcription, translation and transport factor Neighboring gene Sharpr-MPRA regulatory region 12958 Neighboring gene nidogen 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Functional analysis of GNG2 in human malignant melanoma cells. Yajima I, et al. J Dermatol Sci, 2012 Dec. PMID 23031273
    2. Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2). Ong OC, et al. Genomics, 1997 Aug 15. PMID 9286705
    3. Topography of Gng2- and NetrinG2-expression suggests an insular origin of the human claustrum. Pirone A, et al. PLoS One, 2012. PMID 22957104, Free PMC Article
    4. Interference with KCNJ2 inhibits proliferation, migration and EMT progression of apillary thyroid carcinoma cells by upregulating GNG2 expression. Chen S, et al. Mol Med Rep, 2021 Sep. PMID 34212982, Free PMC Article
    5. Molecular basis of receptor/G protein coupling selectivity studied by coexpression of wild type and mutant m2 muscarinic receptors with mutant G alpha(q) subunits. Kostenis E, et al. Biochemistry, 1997 Feb 11. PMID 9063897

    See all (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interference with KCNJ2 inhibits proliferation, migration and EMT progression of apillary thyroid carcinoma cells by upregulating GNG2 expression.
      Title: Interference with KCNJ2 inhibits proliferation, migration and EMT progression of apillary thyroid carcinoma cells by upregulating GNG2 expression.
    2. this paper shows that GNG2 gene polymorphism is associated with IgA nephropathy risk in Chinese Han population
      Title: 3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population.
    3. Low GNG2 expression is associated with Abdominal Aortic Aneurysm.
      Title: miR-30a-GNG2 and miR-15b-ACSS2 Interaction Pairs May Be Potentially Crucial for Development of Abdominal Aortic Aneurysm by Influencing Inflammation.
    4. High GNG2 expression is associated with alcoholic hepatitis.
      Title: The role of the IL-8 signaling pathway in the infiltration of granulocytes into the livers of patients with alcoholic hepatitis.
    5. G-protein betagamma subunits are positive regulators of Kv7.4 and native vascular Kv7 channel activity.
      Title: G-protein βγ subunits are positive regulators of Kv7.4 and native vascular Kv7 channel activity.
    6. Alteration of gene expression profiling including GPR174 and GNG2 is associated with vasovagal syncope.
      Title: Alteration of gene expression profiling including GPR174 and GNG2 is associated with vasovagal syncope.
    7. Data indicate that endogenous mTOR interacts with Gbetagamma.
      Title: Gβγ interacts with mTOR and promotes its activation.
    8. increased protein expression level of GNG2 alone inhibits proliferation of malignant melanoma cells in vitro and in vivo
      Title: Functional analysis of GNG2 in human malignant melanoma cells.
    9. presence of Gng2 and Netrin-G2 immunoreactive elements in the insular cortex, but not in the putamen, suggests a possible common ontogeny of the claustrum and insula
      Title: Topography of Gng2- and NetrinG2-expression suggests an insular origin of the human claustrum.
    10. Gbetagamma inhibits Epac-induced Ca 2+ elevation in melanoma cells. Cross talk of Ca 2+ signaling between Gbetagamma & Epac plays a major role in melanoma cell migration.
      Title: Gβγ subunits inhibit Epac-induced melanoma cell migration.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
    EBI GWAS Catalog
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein beta-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G-protein beta-subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-activating dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to catecholamine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to prostaglandin E stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of heterotrimeric G-protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of heterotrimeric G-protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2
    Names
    g gamma-I
    guanine nucleotide binding protein (G protein), gamma 2
    guanine nucleotide binding protein gamma 2
    guanine nucleotide-binding protein G(I)/G(O) gamma-2 subunit
    heterotrimeric guanine nucleotide-binding protein 3F1
    NP_001230702.1
    NP_001230703.1
    NP_001376636.1
    NP_001376637.1
    NP_001376638.1
    NP_001376639.1
    NP_444292.1
    XP_016876866.1
    XP_024305401.1
    XP_024305402.1
    XP_047287441.1
    XP_047287442.1
    XP_047287443.1
    XP_047287444.1
    XP_047287446.1
    XP_054232205.1
    XP_054232206.1
    XP_054232207.1
    XP_054232208.1
    XP_054232209.1
    XP_054232210.1
    XP_054232211.1
    XP_054232212.1

    NCBI Reference Sequences (RefSeq)

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    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_001243773.2 → NP_001230702.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      See identical proteins and their annotated locations for NP_001230702.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL358333, BQ025819, DA226565, DC318652
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    2. NM_001243774.2 → NP_001230703.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      See identical proteins and their annotated locations for NP_001230703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL358333, BE245271, BQ025819, DC318652
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Related
      ENSP00000334448.4, ENST00000335281.8
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    3. NM_001389707.1 → NP_001376636.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL079307, AL358333
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    4. NM_001389708.1 → NP_001376637.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL079307, AL358333
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    5. NM_001389709.1 → NP_001376638.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL358333
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    6. NM_001389710.1 → NP_001376639.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL358333
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Related
      ENSP00000452014.1, ENST00000554736.5
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    7. NM_053064.5 → NP_444292.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor

      See identical proteins and their annotated locations for NP_444292.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL358333, BQ025819, DA785895, DC318652
      Consensus CDS
      CCDS32082.1
      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Related
      ENSP00000451231.1, ENST00000556766.6
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      51826174..51969795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431486.1 → XP_047287442.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    2. XM_017021377.2 → XP_016876866.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Related
      ENSP00000484021.1, ENST00000615906.4
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    3. XM_024449633.2 → XP_024305401.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    4. XM_024449634.2 → XP_024305402.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9
      Conserved Domains (1) summary
      smart00224
      Location:9 → 71
      GGL; G protein gamma subunit-like motifs

    5. XM_047431490.1 → XP_047287446.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    6. XM_047431488.1 → XP_047287444.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    7. XM_047431487.1 → XP_047287443.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    8. XM_047431485.1 → XP_047287441.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      46033129..46176839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376231.1 → XP_054232206.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    2. XM_054376235.1 → XP_054232210.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    3. XM_054376234.1 → XP_054232209.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    4. XM_054376237.1 → XP_054232212.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    5. XM_054376236.1 → XP_054232211.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    6. XM_054376233.1 → XP_054232208.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    7. XM_054376232.1 → XP_054232207.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X2

      UniProtKB/Swiss-Prot
      P59768, Q5JPE2, Q6P9A9

    8. XM_054376230.1 → XP_054232205.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59768.2 GenPept UniProtKB/Swiss-Prot:P59768

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