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    GNA11 G protein subunit alpha 11 [ Homo sapiens (human) ]

    Gene ID: 2767, updated on 5-May-2024

    Summary

    Official Symbol
    GNA11provided by HGNC
    Official Full Name
    G protein subunit alpha 11provided by HGNC
    Primary source
    HGNC:HGNC:4379
    See related
    Ensembl:ENSG00000088256 MIM:139313; AllianceGenome:HGNC:4379
    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
    FBH; FBH2; FHH2; HG1K; HHC2; GNA-11; HYPOC2
    Summary
    The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
    Expression
    Broad expression in small intestine (RPKM 57.6), duodenum (RPKM 46.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GNA11 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3094362..3123999)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3068114..3097735)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3094360..3123997)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3054606-3055171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3057431-3057995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3057996-3058560 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3059514-3059717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9822 Neighboring gene TLE family member 5, transcriptional modulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9824 Neighboring gene uncharacterized LOC105372242 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3066867-3067075 Neighboring gene Sharpr-MPRA regulatory region 11171 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3076432-3076689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3094165-3095152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3095153-3096138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3096139-3097126 Neighboring gene Sharpr-MPRA regulatory region 3290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3107873-3108374 Neighboring gene uncharacterized LOC124904615 Neighboring gene ribosomal protein L35 pseudogene 10

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env PLC-beta activation and intracellular Ca2+ release are required for HIV-1 gp120-mediated Rac-1 activation and membrane fusion via the G-alpha(q/11) family of G proteins 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 G protein activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTP binding TAS
    Traceable Author Statement
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity TAS
    Traceable Author Statement
    more info
     
    enables enzyme regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled acetylcholine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cranial skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in entrainment of circadian clock ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion channel modulating, G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ligand-gated ion channel signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipase C-activating dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phototransduction, visible light ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in photoreceptor outer segment 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

    Preferred Names
    guanine nucleotide-binding protein subunit alpha-11
    Names
    g alpha-11
    guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
    guanine nucleotide-binding protein G(y) subunit alpha
    heterotrimeric guanine nucleotide-binding protein 1K

    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_033852.2 RefSeqGene

      Range
      4953..34590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1111

    mRNA and Protein(s)

    1. NM_002067.5NP_002058.2  guanine nucleotide-binding protein subunit alpha-11

      See identical proteins and their annotated locations for NP_002058.2

      Status: REVIEWED

      Source sequence(s)
      AC005262, BC089041, HY118575, KF456478
      Consensus CDS
      CCDS12103.1
      UniProtKB/Swiss-Prot
      O15109, P29992, Q14350, Q6IB00
      UniProtKB/TrEMBL
      Q59FM5
      Related
      ENSP00000078429.3, ENST00000078429.9
      Conserved Domains (1) summary
      cd00066
      Location:40353
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3094362..3123999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3068114..3097735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)