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

Gene ID: 2768, updated on 13-May-2022

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
Predicted to enable D5 dopamine receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Involved in regulation of TOR signaling and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]
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
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2728105..2844308, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2841649..2957882, complement)
105.20220307 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 Sharpr-MPRA regulatory region 8408 Neighboring gene Sharpr-MPRA regulatory region 3776 Neighboring gene tweety family member 3 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene prefoldin subunit 4 pseudogene Neighboring gene Sharpr-MPRA regulatory region 5898 Neighboring gene caspase recruitment domain family member 11 Neighboring gene CARD11 antisense RNA 1

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

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

Markers

Homology

Clone Names

  • MGC99644, MGC104623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D5 dopamine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase 2A binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in blood coagulation TAS
Traceable Author Statement
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of vascular associated smooth muscle cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of fibroblast migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in brush border membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in focal adhesion HDA PubMed 
part_of heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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)

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_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, Q6ZQV4
    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
    Q03113
    UniProtKB/TrEMBL
    Q6ZQV4
    Related
    ENSP00000275364.3, ENST00000275364.8
    Conserved Domains (1) summary
    smart00275
    Location:42379
    G_alpha; G protein alpha subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)