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GNA12 G protein subunit alpha 12 [ Homo sapiens (human) ]

Gene ID: 2768, updated on 4-Jan-2025

Summary

Official Symbol
GNA12provided by HGNC
Official Full Name
G protein subunit alpha 12provided by HGNC
Primary source
HGNC:HGNC:4380
See related
Ensembl:ENSG00000146535 MIM:604394; AllianceGenome:HGNC:4380
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RMP; gep; NNX3; HG1M1
Summary
Enables G protein activity; protein phosphatase 2A binding activity; and protein phosphatase activator activity. Involved in regulation of TOR signaling and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in lateral plasma membrane; neuron projection; and neuronal cell body. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in placenta (RPKM 20.5), ovary (RPKM 16.5) and 25 other tissues See more
Orthologs
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Genomic context

See GNA12 in Genome Data Viewer
Location:
7p22.3-p22.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2728105..2844308, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2841649..2957882, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2767739..2883942, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene IQ motif containing E Neighboring gene uncharacterized LOC107986760 Neighboring gene Sharpr-MPRA regulatory region 835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2662913-2663422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2671045-2671776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2672509-2673241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2673974-2674706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2676733-2677406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2677407-2678078 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2680771-2681442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2681443-2682114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25541 Neighboring gene Sharpr-MPRA regulatory region 8408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2692145-2692912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2699787-2700287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25542 Neighboring gene Sharpr-MPRA regulatory region 3776 Neighboring gene tweety family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2720455-2720960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2749197-2749892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25549 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2752776-2752975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25550 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2773373-2774360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2801665-2802194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2802725-2803253 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2811080-2811224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2847552-2848409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2848410-2849266 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2853274-2853476 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:2860641-2861330 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2861331-2862020 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2864095-2864737 Neighboring gene prefoldin subunit 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2883249-2884066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2896347-2896847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2902048-2902694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17888 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2909080-2909284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2911258-2911909 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2910232-2910451 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2913741-2914321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2936507-2937008 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2940368-2940617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2952618-2953118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2953119-2953619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2962703-2963419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2977052-2977948 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2978852-2979043 Neighboring gene caspase recruitment domain family member 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17890 Neighboring gene CARD11 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:3007255-3007437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:3019101-3019832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:3019833-3020562 Neighboring gene RN7SK pseudogene 130

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
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
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC99644, MGC104623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D5 dopamine receptor binding  
enables G protein activity PubMed 
enables G-protein beta/gamma-subunit complex binding  
enables GTP binding  
enables GTPase activity  
enables metal ion binding  
enables protein binding PubMed 
enables protein phosphatase 2A binding PubMed 
enables protein phosphatase activator activity PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway PubMed 
involved_in Rho protein signal transduction  
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway  
involved_in blood coagulation PubMed 
involved_in cell differentiation  
involved_in embryonic digit morphogenesis  
involved_in in utero embryonic development  
involved_in negative regulation of vascular associated smooth muscle cell migration  
involved_in negative regulation of vascular associated smooth muscle cell proliferation  
involved_in regulation of TOR signaling PubMed 
involved_in regulation of blood pressure  
involved_in regulation of cell shape  
involved_in regulation of fibroblast migration  
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process PubMed 
involved_in response to xenobiotic stimulus  
Component Evidence Code Pubs
is_active_in brush border membrane  
is_active_in cytoplasm  
located_in focal adhesion PubMed 
part_of heterotrimeric G-protein complex  
located_in lateral plasma membrane PubMed 
located_in neuron projection PubMed 
located_in neuronal cell body PubMed 
located_in plasma membrane  

General protein information

Preferred Names
guanine nucleotide-binding protein subunit alpha-12
Names
WUGSC:H_GS165O14.2
g alpha-12
guanine nucleotide binding protein (G protein) alpha 12
heterotrimeric guanine nucleotide-binding protein 1M1

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_001282440.1NP_001269369.1  guanine nucleotide-binding protein subunit alpha-12 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compare to isoform 1.
    Source sequence(s)
    AC006028, AK128701
    Consensus CDS
    CCDS64583.1
    UniProtKB/TrEMBL
    E9PC54
    Related
    ENSP00000386054.1, ENST00000407653.1
    Conserved Domains (2) summary
    cd00066
    Location:101299
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:101303
    G_alpha; G protein alpha subunit
  2. NM_001282441.2NP_001269370.1  guanine nucleotide-binding protein subunit alpha-12 isoform 3

    See identical proteins and their annotated locations for NP_001269370.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compare to isoform 1.
    Source sequence(s)
    AC006028, AK127842
    Consensus CDS
    CCDS64584.1
    UniProtKB/Swiss-Prot
    Q03113
    Related
    ENSP00000385935.3, ENST00000407904.7
    Conserved Domains (2) summary
    cd00066
    Location:45316
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:45320
    G_alpha; G protein alpha subunit
  3. NM_001293092.2NP_001280021.1  guanine nucleotide-binding protein subunit alpha-12 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 4) is shorter than isoform 1.
    Source sequence(s)
    AI381970, AK127842, AK295830, BC111464, CA446135
    UniProtKB/Swiss-Prot
    Q03113
    Conserved Domains (2) summary
    cd00066
    Location:58358
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:42362
    G_alpha; G protein alpha subunit
  4. NM_007353.3NP_031379.2  guanine nucleotide-binding protein subunit alpha-12 isoform 1

    See identical proteins and their annotated locations for NP_031379.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI381970, AK127842, AK128701, BI553022, BM557907, CA446135
    Consensus CDS
    CCDS5335.1
    UniProtKB/Swiss-Prot
    A4D204, B3KXS2, B7Z3F7, Q03113, Q2T9L1, Q5PPR5, Q86UM8, Q8TD71, Q9UDU9
    Related
    ENSP00000275364.3, ENST00000275364.8
    Conserved Domains (1) summary
    smart00275
    Location:42379
    G_alpha; G protein alpha subunit

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
    2728105..2844308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2841649..2957882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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