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

Gene ID: 2768, updated on 11-Jun-2021

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
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (2728105..2844308, complement)
105.20201022 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 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

Associated conditions

Description Tests
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
GeneReviews: Not available
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
GeneReviews: Not available

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 
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 IEA
Inferred from Electronic Annotation
more info
 
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

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, 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 Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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