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GNG12 G protein subunit gamma 12 [ Homo sapiens (human) ]

Gene ID: 55970, updated on 17-Sep-2024

Summary

Official Symbol
GNG12provided by HGNC
Official Full Name
G protein subunit gamma 12provided by HGNC
Primary source
HGNC:HGNC:19663
See related
Ensembl:ENSG00000172380 MIM:615405; AllianceGenome:HGNC:19663
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
HG3A
Summary
Enables PDZ domain binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 59.3), small intestine (RPKM 55.3) and 24 other tissues See more
Orthologs
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Genomic context

See GNG12 in Genome Data Viewer
Location:
1p31.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (67701475..67833467, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (67578994..67710912, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (68167158..68299150, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12613 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 9 Neighboring gene RNA, 7SL, cytoplasmic 392, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr1.6815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 984 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68151855-68153054 Neighboring gene Sharpr-MPRA regulatory region 15496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:68174006-68174506 Neighboring gene Sharpr-MPRA regulatory region 6234 Neighboring gene growth arrest and DNA damage inducible alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1183 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:68211594-68212415 Neighboring gene uncharacterized LOC105378781 Neighboring gene Sharpr-MPRA regulatory region 6160 Neighboring gene RNA, U7 small nuclear 80 pseudogene Neighboring gene Sharpr-MPRA regulatory region 9183 Neighboring gene GNG12, DIRAS3 and WLS antisense RNA 1 Neighboring gene uncharacterized LOC124900403 Neighboring gene sirtuin 5 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ31352, FLJ34695

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G-protein beta-subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables PDZ domain binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
part_of heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12
Names
G-protein gamma-12 subunit
guanine nucleotide binding protein (G protein), gamma 12
heterotrimeric guanine nucleotide-binding protein 3A

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_018841.6NP_061329.3  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12

    See identical proteins and their annotated locations for NP_061329.3

    Status: VALIDATED

    Source sequence(s)
    AL832431, BC013090, BP236699, BU151184, BU620098
    Consensus CDS
    CCDS30749.1
    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6
    Related
    ENSP00000360021.3, ENST00000370982.4
    Conserved Domains (1) summary
    smart00224
    Location:1172
    GGL; G protein gamma subunit-like motifs

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    67701475..67833467 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425406.1XP_047281362.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6
  2. XM_047425415.1XP_047281371.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6
  3. XM_017001809.3XP_016857298.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6
    Conserved Domains (1) summary
    smart00224
    Location:1172
    GGL; G protein gamma subunit-like motifs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    67578994..67710912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337709.1XP_054193684.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6
  2. XM_054337710.1XP_054193685.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6
  3. XM_054337708.1XP_054193683.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

    UniProtKB/Swiss-Prot
    Q69YP5, Q9BRV5, Q9UBI6