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

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: mouse all
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Genomic context

Location:: 7p22.3-p22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (2728105..2844308, complement)
RS_2023_10	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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Galpha12 signaling regulates transcriptional and phenotypic responses that promote glioblastoma tumor invasion.
Title: Gα12 signaling regulates transcriptional and phenotypic responses that promote glioblastoma tumor invasion.
ERalpha inhibits mesenchymal and amoeboidal movement of liver cancer cell via Galpha12.
Title: ERα inhibits mesenchymal and amoeboidal movement of liver cancer cell via Gα12.
Divergent C-terminal motifs in Galpha12 and Galpha13 provide distinct mechanisms of effector binding and SRF activation.
Title: Divergent C-terminal motifs in Gα12 and Gα13 provide distinct mechanisms of effector binding and SRF activation.
Plant miR171 modulates mTOR pathway in HEK293 cells by targeting GNA12.
Title: Plant miR171 modulates mTOR pathway in HEK293 cells by targeting GNA12.
G12/13 is activated by acute tethered agonist exposure in the adhesion GPCR ADGRL3.
Title: G12/13 is activated by acute tethered agonist exposure in the adhesion GPCR ADGRL3.
Galpha12 plays a crucial role in human airway smooth muscle contraction via RhoA-dependent activation of the PI3K/ROCK axis; targeting Galpha12 signaling may elucidate novel therapeutic targets in asthma
Title: Gα(12) facilitates shortening in human airway smooth muscle by modulating phosphoinositide 3-kinase-mediated activation in a RhoA-dependent manner.
the current studies provide evidence showing that c-Jun directly binds to a consensus binding sequence within the GNA12-5' regulatory region, thereby regulating GNA12 transcription.
Title: c-Jun Contributes to Transcriptional Control of GNA12 Expression in Prostate Cancer Cells.
we conclude that Galpha12 protects HUVECs[ human umbilical vein endothelial cells ] from serum withdrawal-induced apoptosis by retaining miR-155 expression.
Title: Galpha12 Protects Vascular Endothelial Cells from Serum Withdrawal-Induced Apoptosis through Regulation of miR-155.
RGS22 acts as a tumor suppressor, repressing human pancreatic adenocarcinoma cell migration by coupling to GNA12/13.
Title: RGS22 inhibits pancreatic adenocarcinoma cell migration through the G12/13 α subunit/F-actin pathway.
preeclampsia is associated with decreased methylation of the GNA12 promoter
Title: Preeclampsia is Associated with Decreased Methylation of the GNA12 Promoter.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47160 (e-PCR)
- UniSTS:789

SHGC-55936 (e-PCR)
- UniSTS:60952

IB3257 (e-PCR)
- UniSTS:63021

GDB:4585499 (e-PCR)
- UniSTS:68437

GDB:1318724 (e-PCR)
- UniSTS:62062

GNA12_2314 (e-PCR)
- UniSTS:280700

SGC30408 (e-PCR)
- UniSTS:81045

GDB:1318700 (e-PCR)
- UniSTS:28835

RH48509 (e-PCR)
- UniSTS:68008

RH17789 (e-PCR)
- UniSTS:26543

WI-8539 (e-PCR)
- UniSTS:79794

SHGC-2608 (e-PCR)
- UniSTS:34776

D12S364 (e-PCR), detects polymorphism
- UniSTS:25573

RH102425 (e-PCR)
- UniSTS:96759

RH91763 (e-PCR)
- UniSTS:91386

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D5 dopamine 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	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
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 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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_001282440.1 → NP_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:101 → 299

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

smart00275
Location:101 → 303

G_alpha; G protein alpha subunit
NM_001282441.2 → NP_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:45 → 316

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

smart00275
Location:45 → 320

G_alpha; G protein alpha subunit
NM_001293092.2 → NP_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:58 → 358

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

smart00275
Location:42 → 362

G_alpha; G protein alpha subunit
NM_007353.3 → NP_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:42 → 379

G_alpha; G protein alpha subunit